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Sample records for dizygotic monochorionic twin

  1. Blood Chimerism in Dizygotic Monochorionic Twins During 5 Years Observation.

    PubMed

    Dziegiel, M H; Hansen, M H; Haedersdal, S; Barrett, A N; Rieneck, K; Main, K M; Hansen, A T; Clausen, F B

    2017-04-19

    Dizygotic monochorionic twin pregnancies can result in blood chimerism due to in utero twin-to-twin exchange of stem cells. In this case, we examined the proportion of allogeneic red blood cells by flow cytometry and the proportion of allogeneic nucleated cells by digital polymerase chain reaction at 7 months and again at 5 years. We found an increase in the proportion of allogeneic cells from 63% to 89% in one twin, and a similar increase in autologous cells in the other twin from 57% to 84%. A paradigm for stem cell therapy could be modeled on this case: induction of tolerance and chimerism by antenatal transfusion of donor stem cells. The procedure would hold the promise of transplantation and tolerance induction without myeloablative conditioning for inheritable benign hematological diseases such as sickle cell disease and thalassemia. © 2017 The American Society of Transplantation and the American Society of Transplant Surgeons.

  2. Antenatal Diagnosis of Dizygotic, Monochorionic Twins Following IVF/ICSI.

    PubMed

    Korsun, P; Bals-Pratsch, M; Ortmann, O; Markus, S; Germer, U

    2016-06-01

    Monochorionic twins are usually monozygotic and thus usually have the same sex. A case of monochorionic diamniotic twins following IVF/ICSI and laser treatment of the zona pellucida ("assisted hatching") is presented in which partial embryo amalgamation appears to have occurred. Discordant sex between the twins was suspected on detailed antenatal ultrasound at 13 + 3 weeks gestation and was confirmed on subsequent examinations. The sexual phenotype at birth was female for one twin and male for the other. Placental histology confirmed the monochorionic, diamniotic situation. Cytogenetic analysis of both twins was carried out postpartum on various tissues. On karyotyping of blood lymphocytes the male and female twins each had one mosaic of male and female cells. Oral mucosal cells showed normal male and female karyotypes respectively. Analysis of urothelium showed a normal result for the male infant, and a weak gonosomal mosaic with an XX and XY constellation for the female infant. At least for blood lymphocytes, a diagnosis of chimerism was proven.

  3. Antenatal Diagnosis of Dizygotic, Monochorionic Twins Following IVF/ICSI

    PubMed Central

    Korsun, P.; Bals-Pratsch, M.; Ortmann, O.; Markus, S.; Germer, U.

    2016-01-01

    Monochorionic twins are usually monozygotic and thus usually have the same sex. A case of monochorionic diamniotic twins following IVF/ICSI and laser treatment of the zona pellucida (“assisted hatching”) is presented in which partial embryo amalgamation appears to have occurred. Discordant sex between the twins was suspected on detailed antenatal ultrasound at 13 + 3 weeks gestation and was confirmed on subsequent examinations. The sexual phenotype at birth was female for one twin and male for the other. Placental histology confirmed the monochorionic, diamniotic situation. Cytogenetic analysis of both twins was carried out postpartum on various tissues. On karyotyping of blood lymphocytes the male and female twins each had one mosaic of male and female cells. Oral mucosal cells showed normal male and female karyotypes respectively. Analysis of urothelium showed a normal result for the male infant, and a weak gonosomal mosaic with an XX and XY constellation for the female infant. At least for blood lymphocytes, a diagnosis of chimerism was proven. PMID:27365544

  4. Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation.

    PubMed

    Mayeur Le Bras, Anne; Petit, François; Benachi, Alexandra; Bedel, Bettina; Oucherif, Salima; Martinovic, Jelena; Armanet, Narjes; Tosca, Lucie; Gautier, Valérie; Parisot, Frédéric; Labrune, Philippe; Tachdjian, Gérard; Brisset, Sophie

    2016-04-01

    Monochorionic twins are generally considered as a monozygotic twin pregnancy. However, several cases of monochorial dizygotic twin pregnancies have been reported. We report on a rare case of monochorionic dizygotic twin pregnancy conceived after induced ovulation in a 32-year-old woman. The diagnosis was made on morphological ultrasound examination at 18+4 weeks of gestation, showing two fetuses with discordant sex. The amniocentesis was declined by the patient. The monochorionic status was confirmed after a histopathalogical study of the placenta. At delivery, both a phenotypically normal boy and a phenotypically normal girl without sexual abnormality were observed. This analysis also revealed the presence of vascular anastomoses between both fetal circulations. Postnatal cytogenetic analyses indicated the presence of a chimerism in peripheral blood lymphocytes. This chimerism was not observed in cells obtained from a buccal swab. Molecular determination of zygosity confirmed the existence of the confined peripheral blood chimerism with the presence of four parental alleles. We report on a case of monochorionic dizygotic twin pregnancy. This observation underlies the need to carefully assess twin pregnancies, especially when obtained after assisted reproductive technology. © 2016 Wiley Periodicals, Inc.

  5. Twins reunited: scientific and personal perspectives/twin research studies: multiple birth effects on IQ and body size; life style, muscles, and metabolism; monochorionic dizygotic twin with blood chimerism; amniocentesis for twins/twins in the media: identical doctors; freedom fighter for twins; twin scholarships; Auguste and Jean-Felix Piccard; twins born apart.

    PubMed

    Segal, Nancy L; Mulligan, Christy A

    2014-04-01

    A reunion of 38-year-old female monozygotic twins took place in Daegu, South Korea, on January 14, 2014. Scientific and personal perspectives on this extraordinary event are provided. A review of timely twin research follows, covering the effects of multiple births on IQ and body size, lifestyle and physical fitness associations, a rare case of a dizygotic twin with blood chimerism and definitional issues surrounding amniocentesis-related loss in multiple birth pregnancies. Interesting and informative mention of twins in the media includes twin doctors, a twin freedom fighter, the availability of college scholarships for twins, a new book about the Piccard family (two of whose members were twins), and co-twins born before and after the new year. A follow-up to a previous mention of identical twin biatheletes is also provided.

  6. Contemporary management of complicated monochorionic twins.

    PubMed

    Moise, Karen Y; Kugler, Lisa; Jones, Tyra

    2012-01-01

    Monochorionic twins are at increased risk for unique complications including twin-twin transfusion syndrome (TTTS), selective intrauterine growth restriction (sIUGR), and twin-reversed arterial perfusion (TRAP) sequence. Twin-twin transfusion syndrome is treated with laser photocoagulation whereas selective reduction is an option in previable sIUGR or TRAP sequence. The nurse is integral in the management, education, care and support of women with complicated pregnancies. © 2012 AWHONN, the Association of Women's Health, Obstetric and Neonatal Nurses.

  7. Spontaneous unilateral dizygotic twin tubal pregnancy.

    PubMed

    Tam, Teresa; Khazaei, Ali

    2009-02-01

    Spontaneous dizygotic unilateral twin tubal pregnancy is an extremely rare occurrence with a high risk for pregnancy-related mortality, and a diagnostic challenge for obstetricians. We present a case of a 27-year-old woman with spontaneous twin tubal pregnancy. Transvaginal color Doppler sonography revealed 2 separate gestational sacs within the right adnexa, each containing an embryo. Cytogenetic examination of the trophoblastic tissues confirmed the diagnosis of dizygotic twin ectopic pregnancy. Clinical signs and symptoms together with imaging studies help in the diagnosis of this rare variant of ectopic pregnancies.

  8. The sex ratios of monozygotic and dizygotic twins.

    PubMed

    James, William H

    2010-08-01

    Fellman and Eriksson (2010) cited my suggestion that the sex ratio (proportion male) of monozygotic (MZ) twins is lower than that of dizygotic (DZ) twins (James 1975). Here I offer elaborations on and potential explanations for this.

  9. Natal teeth in premature dizygotic twin girls.

    PubMed

    Dahake, Prasanna T; Shelke, Anup U; Kale, Yogesh J; Iyer, Vidya Vijay

    2015-12-18

    Presence or eruption of teeth immediately at or after birth is a rarely reported phenomenon. This condition is referred to as natal teeth, neonatal teeth, congenital teeth, fetal teeth, predeciduous teeth and dentitia praecox. The most affected teeth are lower primary central incisors with the incidence of 1:2000 for natal and 1:3500 for neonatal teeth. The aetiology of this anomaly is still not clear, however, attributes have been reported in relation to congenital teeth, multiple factors and some syndromes. The management of such cases depends on clinical characteristics of natal or neonatal teeth, as well as complications that they might cause. The aim of this paper is to discuss a rare case of occurrence of two natal teeth in both premature dizygotic twin female babies with specific emphasis on the literature review related to concerns regarding prevalence, aetiology, clinical characteristics, differential diagnosis, complications and management. 2015 BMJ Publishing Group Ltd.

  10. Hematological disorders at birth in complicated monochorionic twins.

    PubMed

    Verbeek, Lianne; Slaghekke, Femke; Sueters, Marieke; Middeldorp, Johanna M; Klumper, Frans J; Haak, Monique C; Oepkes, Dick; Lopriore, Enrico

    2017-06-01

    Monochorionic twins are at risk of severe complications including twin-twin transfusion syndrome (TTTS), twin anemia-polycythemia sequence (TAPS) and acute peripartum TTTS. The pathophysiology is based on inter-twin blood transfusion through placental vascular anastomoses. Areas covered: This review focuses on the incidence, management and outcome of neonatal hematological complications at birth in TTTS, TAPS and acute peripartum TTTS. Expert commentary: Hematological disorders are often present at birth in monochorionic twins and include acute or chronic anemia, polycythemia and thrombocytopenia. Routine measurement of complete blood counts in all complicated monochorionic twins is strongly recommended. Increased awareness on these disorders and correct diagnostic tests will lead to prompt and adequate management at birth.

  11. Genetic modelling of dizygotic twinning in pedigrees of spontaneous dizygotic twins

    SciTech Connect

    Meulemans, W.J.; Derom, C.A.; Derom, R.M.

    1996-01-22

    The inheritance of spontaneous dizygotic (DZ) twinning was investigated in 1,422 three-generation pedigrees ascertained through mothers of spontaneous DZ proband twins. DZ twinning was modelled as a trait expressed only in women. The penetrance was modelled first as a parity independent and secondly as parity dependent. The observed frequencies of maternal and paternal grandmothers with DZ twins differed significantly from the expectations under an X-linked mode of inheritance. Complex segregation analysis showed that the parity-independent phenotype of {open_quotes}having DZ twins{close_quotes} was consistent with an autosomal monogenic dominant model, with a gene frequency of 0.035 and a female-specific lifetime penetrance of 0.10. Recessive, polygenic, and sporadic models were rejected. The autosomal dominant model revealed a strong robustness against a changing population prevalence and the loss of information due to the presence of same-sexed twin pairs of unknown zygosity. When DZ twinning was modelled as a parity dependent trait, the data were compatible with an autosomal dominant model with a gene frequency of 0.306 and a penetrance of 0.03 per birth for female gene carriers. 19 refs., 5 tabs.

  12. Pathology of twin placentas with special attention to monochorionic twin placentas.

    PubMed

    Nikkels, P G J; Hack, K E A; van Gemert, M J C

    2008-12-01

    The risk of perinatal morbidity and mortality in twins is 3-7 times higher than in singletons. In comparison to dichorionic twins, monochorionic twins are at increased risk for perinatal mortality and serious morbidity. In both type of twins growth discordance can occur. Discordant growth of dichorionic twins could be due to differences in placental mass or differences in placental parenchymal lesions, whereas birth weight discordancy in monochorionic twins is caused by placental vascular anastomoses. In this review the different types of complications (acardiac twins, acute and chronic twin-twin transfusion syndrome) due to different combinations of vascular anastomoses are discussed in relation to a computer model developed to gain more insight into the development of the twin-twin transfusion syndrome. The angioarchitecture of 395 monochorionic twin placentas was studied. Mortality was highest in the absence of an arterio-arterial anastomosis (42%) and lowest in the presence of an arterio-arterial anastomosis (15%). If mortality occurred, pregnancies with double mortality usually had an arterio-arterial anastomosis. If pregnancies were complicated by one death, a veno-venous anastomosis is more likely to be present. In conclusion, monochorionic twin pregnancies are a high risk pregnancy with a high chance of both mortality and morbidity; placental characteristics are a major contributor to adverse outcome in these pregnancies.

  13. Neonatal morbidity in growth-discordant monochorionic twins: comparison between the larger and the smaller twin.

    PubMed

    Lopriore, Enrico; Sluimers, Carolien; Pasman, Suzanne A; Middeldorp, Johanna M; Oepkes, Dick; Walther, Frans J

    2012-08-01

    Fetal growth restriction in singletons has been shown to enhance fetal lung maturation and reduce the risk of respiratory distress syndrome due to increased endogenous steroid production. However, data on lung maturation in growth-discordant monochorionic (thus, identical) twins are lacking. Our objective was to compare the risk of severe neonatal morbidity between the larger and the smaller twin in monochorionic twins with birth weight discordance (BWD). We included in the study all consecutive monochorionic diamniotic pregnancies with severe BWD (≥25%) and two live-born twins delivered at our center (n=47 twin pairs). We compared the incidence of neonatal morbidity, particularly respiratory distress syndrome (RDS), and cerebral lesions between the larger and the smaller co-twin. The incidence of severe neonatal morbidity in the larger and smaller twin was 38% (18/47) and 19% (9/47), respectively (odds ratio (OR) 2.66, 95% confidence interval (CI) 0.94-7.44) and was due primarily to the higher incidence of RDS, 32% (15/47) and 6% (3/47), respectively (OR 6.88, 95% CI 1.66-32.83). In conclusion, this study shows that the larger twin in monochorionic twin pairs with BWD is at increased risk of severe neonatal morbidity, particularly RDS, compared to the smaller twin.

  14. Antenatal detection of arteriovenous anastomoses in monochorionic twin pregnancy.

    PubMed

    Sau, A; Weber, M; Shennan, A H; Maxwell, D

    2008-01-01

    To revalidate the detection technique for arteriovenous anastomoses in an unselected group of monochorionic twins, and to make recommendations about its applicability for more widespread use. Women with monochorionic diamniotic (MCDA) twins were recruited and underwent placental mapping by color Doppler ultrasound. Images of placental maps showing the location and type of anastomoses were saved as digital video clips. After delivery, dye injection study of all the placentas was performed to delineate the site and type of anastomoses. A digital photograph of each injection study was taken and saved. The antenatal ultrasound images and postnatal dye injection studies were compared. 18 sets MCDA twins were evaluated. In 3 cases there was evidence of twin-to-twin transfusion syndrome. Dye injection of 18 placentas revealed 21 arterio-arterial anastomoses (AAA), 21 arteriovenous anastomoses (AVA) and 4 veno-venous anastomoses (VVA). Of these, 10 (48%) AAAs and 5 (24%) AVAs were detected antenatally by color Doppler. In all cases, where an AVA was detected, the placenta was located anteriorly. Antenatal detection of AVA was feasible when the placenta was located anteriorly, but proved difficult in posteriorly situated placentas.

  15. Sleep-EEG in dizygotic twins discordant for Williams syndrome.

    PubMed

    Bódizs, Róbert; Gombos, Ferenc; Szocs, Katalin; Réthelyi, János M; Gerván, Patrícia; Kovács, Ilona

    2014-01-30

    Reports on twin pairs concordant and discordant for Williams syndrome were published before, but no study unravelled sleep physiology in these cases yet. We aim to fill this gap by analyzing sleep records of a twin pair discordant for Williams syndrome extending our focus on presleep wakefulness and sleep spindling. We performed multiplex ligation-dependent probe amplification of the 7q11.23 region of a 17 years old dizygotic opposite-sex twin pair discordant for Williams syndrome. Polysomnography of laboratory sleep at this age was analyzed and followed-up after 1.5 years by ambulatory polysomnography. Sleep stages scoring, EEG power spectra and sleep spindle analyses were carried out. The twin brother showed reduced levels of amplification for all of the probes in the 7q11.23 region indicating a typical deletion spanning at least 1.038 Mb between FKBP6 and CLIP2. The results of the twin sister showed normal copy numbers in the investigated region. Lower sleep times and efficiencies, as well as higher slow wave sleep percents of the twin brother were evident during both recordings. Roughly equal NREM, Stage 2 and REM sleep percents were found. EEG analyses revealed state and derivation-independent decreases in alpha power, lack of an alpha spectral peak in presleep wakefulness, as well as higher NREM sleep sigma peak frequency in the twin brother. Faster sleep spindles with lower amplitude and shorter duration characterized the records of the twin brother. Spectra show a striking reliability and correspondence between the two situations (laboratory vs. home records). Alterations in sleep and specific neural oscillations including the alpha/sigma waves are inherent aspects of Williams syndrome.

  16. NOTE: Haemodynamic resistance model of monochorionic twin pregnancies complicated by acardiac twinning

    NASA Astrophysics Data System (ADS)

    Umur, Asli; van Gemert, Martin J. C.; van den Wijngaard, Jeroen P. H. M.; Ross, Michael G.; Nikkels, Peter G. J.

    2004-07-01

    An acardiac twin is a severely malformed monochorionic twin fetus that lacks most organs, particularly a heart. It grows during pregnancy, because it is perfused by its developmentally normal co-twin (called the pump twin) via a set of placental arterioarterial and venovenous anastomoses. The pump twin dies intrauterine or neonatally in about 50% of the cases due to congestive heart failure, polyhydramnios and prematurity. Because the pathophysiology of this pregnancy is currently incompletely understood, we modified our previous haemodynamic model of monochorionic twins connected by placental vascular anastomoses to include the analysis of acardiac twin pregnancies. We incorporated the fetoplacental circulation as a resistance circuit and used the fetal umbilical flow that perfuses the body to define fetal growth, rather than the placental flow as done previously. Using this modified model, we predicted that the pump twin has excess blood volume and increased mean arterial blood pressure compared to those in the acardiac twin. Placental perfusion of the acardiac twin is significantly reduced compared to normal, as a consequence of an increased venous pressure, possibly implying reduced acardiac placental growth. In conclusion, the haemodynamic analysis may contribute to an increased knowledge of the pathophysiologic consequences of an acardiac body mass for the pump twin.

  17. Craniofacial skeletal dysplasia of opposite-sex dizygotic twins.

    PubMed

    Chou, Szu-Ting; Tseng, Yu-Chuan; Pan, Chin-Yun; Chang, Jenny Zwei-Chieng; Chang, Hong-Po

    2011-05-01

    Craniofacial skeletal dysplasia can lead to different skeletal malocclusions. Both environmental factors and heredity contribute to the formation of malocclusions. There are strong familial tendencies in the development of Angle's Class II and III malocclusions. Cases such as opposite-typed (Class II and III) malocclusions with skeletal and dentoalveolar discordance in siblings or dizygotic (DZ) twins have seldom been reported. We describe the rare case of a pair of opposite-sex DZ twins with completely different skeletal malocclusions, and discuss the clinical considerations for treatment. The patients were twins aged 13 years and 4 months. The girl had mandibular prognathism and a Class III dentoskeletal relationship, whereas the boy had skeletal Class II with mandibular retrusion. Several morphological traits have been implicated with hormonal effect. However, there was no evidence of whether the masculinization effect had any impact on jaw size in the female fetus or whether this effect lasted into adolescence. We suggest that, although DZ twins share the same growth environment, genetic or other unknown extrinsic factors can result in discordance of characteristics of the craniofacial skeleton, dentition, and occlusion. Copyright © 2011 Formosan Medical Association & Elsevier. Published by Elsevier B.V. All rights reserved.

  18. Twin anemia-polycythemia sequence in monochorionic twins: implications for diagnosis and treatment.

    PubMed

    Baschat, Ahmet A; Oepkes, Dick

    2014-09-01

    Twin anemia-polycythemia sequence (TAPS) is a recently described complication of monochorionic placentation characterized by discordance in hemoglobin (Hgb) levels in the absence of amniotic fluid abnormality characteristic of classical twin-twin transfusion syndrome (TTTS). The placental angioarchitecture that predisposes to TAPS consists of small diameter arteriovenous anastomoses and the absence of balancing arterioarterial anastomoses. This vascular pattern occurs sporadically in 3 to 5% of monochorionic twins or iatrogenically following 2 to 13% of selective fetoscopic laser surgeries for TTTS. The diagnosis is based on measurement of the middle cerebral artery peak systolic velocity (MCA-PSV) which is not part of the Quintero staging for TTTS. With mild disease increased MCA-PSV in the anemic donor twin and a decreased MCA-PSV in the recipient twin are characteristic while severe disease is associated with critical Doppler findings, hydrops or single twin demise as in TTTS. Treatment options include fetoscopic laser, fetal blood transfusion, conservative management, and often preterm delivery. The most promising approach to TAPS is its prevention since the iatrogenic form comprises the majority of cases. When the fetoscopic laser technique is modified by coagulating the chorionic plate along the vascular equator (equatorial dichorionization or "Solomon" technique) the incidence of postlaser TAPS and recurrent TTTS is significantly reduced, survival is improved, and there is no increase in complications.

  19. NOTE: Modelling the influence of amnionicity on the severity of twin twin transfusion syndrome in monochorionic twin pregnancies

    NASA Astrophysics Data System (ADS)

    van den Wijngaard, Jeroen P. H. M.; Umur, Asli; Ross, Michael G.; van Gemert, Martin J. C.

    2004-03-01

    Clinical treatment for diamniotic monochorionic twin twin transfusion syndrome (TTTS) may include conversion of diamniotic pregnancies to a monoamniotic monochorionic state by disrupting the amnion septum. We sought to test the underlying hypothesis, i.e. that a monoamniotic state reduces the severity of TTTS. With use of our previously developed mathematical model of two equal fetoplacental circulatory units connected by various sizes and types of placental anastomoses, we compared the haemodynamic and amniotic fluid dynamics of monoamniotic and diamniotic twins that develop TTTS. We used three anastomotic patterns that produce severe, moderate or mild forms of TTTS, respectively, in our diamniotic monochorionic twin model. Monoamnionicity was modelled by adding the two amniotic fluid volumes and using the volume-averaged amniotic fluid osmolality. The results were as follows: for severe TTTS, small differences develop between diamniotic and monoamniotic donor twins in fetal urine production, swallowed volume, blood volume, blood pressures, net fetofetal transfusion, and blood and amniotic fluid osmolality. However, the circulatory imbalance between the monoamniotic twins deteriorates similar to that of diamniotic twins. The pathophysiological differences tend to disappear for milder TTTS. In conclusion, our model suggests that the uncommon finding of TTTS in monoamniotic twins is not due to the presence of a single amniotic sac. Rather, clinically significant differences in anastomotic patterns and the delayed or lack of identification of manifestations in monoamniotic twins account for the reduced rate of TTTS diagnosis. Based on these results we expect the clinical disruption of the amnion septum in diamniotic monochorionic TTTS pregnancies to have only minimal benefits.

  20. Successful management of discordant alobar holoprosencephaly in monochorionic diamniotic twins with normal karyotype: a case report.

    PubMed

    Zhang, J; Yang, T; Wang, X; Yu, H

    2015-01-01

    Holoprosencephaly (HPE), a complex brain malformation resulting from incomplete cleavage of the prosencephalon into distinct cerebral hemispheres, is rare in newborns. Two preterm male neonates were born at 34 weeks' and five days' gestation in the monochorionic diamniotic twin pregnancy complicated with pre-eclampsia and intrahepatic cholestasis of pregnancy, and one of them was prenatally diagnosed with alobar HPE by ultrasonography with frontal bossing, hydrocephaly, hypotelorism of eyes, flat nasal bridge, macroglossia, and cheilo/palatoschisis at birth. Karyotyping by G-banding of amniocentesis specimens in normal twin and fetal umbilical blood in both fetuses showed 46, XY. This report expands discordant alobar holoprosencephaly in monochorionic diamniotic twins.

  1. Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair

    PubMed Central

    Pavone, Piero; Praticò, Andrea Domenico; Pavone, Vito; Falsaperla, Raffaele

    2013-01-01

    The present report describes clinical variability in an affected dizygotic twin pair. Twin 1 showed classical features of the congenital myasthenic syndromes (CMS), that is, ptosis, dysphonia, asthenia and hypotonia. In twin 2, these clinical signs were less pronounced, but subtle resulting in severe lumbar hyperlordosis. Molecular analysis, performed for both twins, revealed the presence of three polymorphisms in the heterozygous form in RAPSN gene. The present report highlights the clinical variability of the CMS. PMID:23365176

  2. [Neurodevelopmental Outcomes of Very Preterm or Very Low Birth Weigth Infants: Comparison of Monochorionic and Dichorionic Twins with Singletons].

    PubMed

    Taborda, Adelaide; Oliveira, Guiomar

    2016-11-01

    Twins are associated with a delayed development and cerebral palsy. The purpose of this work was to compare the neurologic morbidity in very preterm or very low birth weight dichorionic and monochorionic twins with singletons. We conducted a retrospective cohort study of livebirths lowest through 32 weeks of gestation or very low weight infants admitted to Neonatal Intensive Care Unit of a level III hospital, between 2006 and 2010. Development was evaluated with the Growing Skills II Scale at 24 months of age. Cerebral palsy was defined by predetermined criteria by Surveillance of Cerebral Palsy in Europe. Infants were analyzed as twins and singletons cohort. Within the twin category the infants were further separated as dichorionic and monochorionic and were compared with singletons infants. Logistic regression models were used to control for demographic and clinical factors. The cohort of infants who were assessed for neurodevelopmental impaired, consisted of 194 singletons infants and 89 twins (50 dichorionic; 39 monochorionic). Monochorionic twins, when compared with the singletons, showed an increased risk of severe developmental delay in these areas: locomotion (adjusted OR 12.2) language (adjusted OR 6.5) and autonomy (adjusted OR 7.2). Cerebral palsy was diagnosed in 4.1% of singleton infants and 15.4% of monochorionic twins. The adjusted risk of severe developmental delay and cerebral palsy in monochorionic twins was 3.6 and 4.2, respectively. This work showed higher rate of moderate and severe neurodevelopment delay including cerebral palsy in monochorionic twins compared to singletons infants. Analysis by groups stratified according to gestational age and comparison of monochorionic and dichorionic twins displayed the role of chorionicity for these neurodevelopmental disorders. In our sample the monochorionic twins are associated with an independent risk of neurodevelopmental delay.

  3. Echogenic material in the fetal gallbladder in a surviving monochorionic twin.

    PubMed

    Sepulveda, W; Stagiannis, K D

    1996-01-01

    Fetal gallstones or echogenic sludge in the fetal gallbladder have rarely been reported prenatally despite the increasing number of ultrasound scans performed during pregnancy. In this report we present a case in which diffuse echogenic material was detected in the fetal gallbladder in a surviving monochorionic twin. This report identifies another predisposing factor for fetal gallstones/sludge in the perinatal period.

  4. Ultrasound predictors of mortality in monochorionic twins with selective intrauterine growth restriction.

    PubMed

    Ishii, K; Murakoshi, T; Hayashi, S; Saito, M; Sago, H; Takahashi, Y; Sumie, M; Nakata, M; Matsushita, M; Shinno, T; Naruse, H; Torii, Y

    2011-01-01

    The aim of this study was to evaluate the use of ultrasound assessment to predict risk of mortality in expectantly managed monochorionic twin fetuses with selective intrauterine growth restriction (sIUGR). This was a retrospective study of 101 monochorionic twin pregnancies diagnosed with sIUGR before 26 weeks of gestation. All patients were under expectant management during the observation period. At the initial evaluation, the presence or absence of each of the following abnormalities was documented: oligohydramnios; stuck twin phenomenon; severe IUGR < 3(rd) centile of estimated fetal weight; abnormal Doppler in the umbilical artery; and polyhydramnios in the larger twin. The relationships between these ultrasound findings and mortality of sIUGR fetuses were evaluated using multiple logistic regression analysis. Of 101 sIUGR twins, 22 (21.8%) fetuses suffered intrauterine demise and nine (8.9%) suffered neonatal death; 70 (69.3%) survived the neonatal period. Multiple logistic regression analysis revealed that the stuck twin phenomenon (odds ratio (OR): 14.5; 95% CI: 2.2-93.2; P = 0.006) and constantly absent diastolic flow in the umbilical artery (OR: 29.4; 95% CI: 3.3-264.0; P = 0.003) were significant risk factors for mortality. Not only abnormal Doppler flow in the umbilical artery but also severe oligohydramnios should be recognized as important indicators for mortality in monochorionic twins with sIUGR.

  5. Monochorionic twins with the same blood karyotype of 46,XY/47,XYY but different phenotypes.

    PubMed

    Wuttikonsammakit, Piyawadee; Tanawattanacharoen, Somchai; Uerpairojkit, Boonchai

    2010-02-01

    We report the case of a 13-year-old woman who was pregnant with phenotypically discordant monochorionic twins: one with cystic hygroma and hydrops, the other one normal. Fetal blood sampling was performed by intrahepatic blood collection for karyotyping of both fetuses, revealing the same genotype of 46,XY/47,XYY in 2:1 proportion. Phenotypic discordance in monozygotic twins can have various causes, such as placental vascular anatomy, differences in allocation of the number of blastomeres or genetic postzygotic events.

  6. Digitalization of the mother in treating hydrops fetalis in monochorionic twin with Ebstein's anomaly. Case report.

    PubMed

    Koike, T; Minakami, H; Shiraishi, H; Ogawa, S; Matsubara, S; Honma, Y; Sato, I

    1997-01-01

    Hydrops fetalis thought to be due to Ebstein's anomaly was seen at 22 weeks' gestation in one of two fetuses with a monochorionic placenta. Hydrops was treated with maternal digitalization and resolved by the 28th week of gestation. Hydrops did not recur while maternal digitalization continued. A clinical diagnosis of twin-to-twin transfusion syndrome required termination of the pregnancy at 33 weeks of gestation. The twin with Ebstein's anomaly died 22 hours after birth. The other twin survived and was normal at 19 months of age. Thus, administration of digitalis to the mother controlled hydrops fetalis in one fetus, and ultimately led to the survival of the healthy infant.

  7. Monozygotic Monochorionic Twins Discordant for Trisomy 21: A Reason to Evaluate Both Fetuses: A Case Report.

    PubMed

    Macatangga, Monica; De la Calle, Maria; Torres, Maria Luisa; Bartha, Jose Luis

    2016-01-01

    The occurrence of a discordant chromosomal abnormality in monozygotic twins is an extremely rare condition. We report the prenatal sonographic findings and cytogenetic studies in a monochorionic twin pregnancy discordant for severe fetal anomalies. Amniocentesis was normal for both twins. The pregnancy was managed conservatively, resulting in the delivery of discordant twins at 28 weeks. Cytogenetic analysis performed on cultured lymphocytes from peripheral blood revealed a mosaic 47XY+21 (in 2% of the cells)/46XY (in 98%) in the structurally normal twin, and a mosaic 47XY+21 (4%)/46XY (96%) for the abnormal twin. The abnormal neonate died shortly after delivery. The structurally normal twin survived without sequelae and had a normal karyotype 2 years later. This report adds to the literature a case of a monochorionic twin pregnancy with a mosaic fetus who gives his co-twin trisomic cells through placental vascular anastomoses, this twin being a chimera, highlighting the necessity of performing molecular genetics with polymorphic DNA markers to differentiate chimerism from mosaicism and define the origin of cell lines.

  8. Monochorionic and dichorionic twin pregnancies discordant for fetal anencephaly: a systematic review of prenatal management options.

    PubMed

    Lust, Annelies; De Catte, Luc; Lewi, Liesbeth; Deprest, Jan; Loquet, Philippe; Devlieger, Roland

    2008-04-01

    The aim of this study was to evaluate the effect of selective feticide (SF) compared to expectant management (EM) on perinatal outcome in dichorionic and monochorionic twins discordant for anencephaly. For this purpose, we conducted a systematic review of literature and added ten unpublished cases. As a result, we found that in dichorionic twins, mean gestational age (GA) at birth in the SF group was 38.0 weeks versus 34.9 weeks (P = 0.0002). Mean birth weight was 2922 g in the SF group versus 2474 g (P = 0.03). In monochorionic twins, mean GA at birth was 35.2 weeks versus 32.7 weeks (P = 0.1). Mean birth weight was 2711 g versus 1667 g (P = 0.0001). We conclude that while SF does not reduce perinatal mortality, it does result in significantly longer gestations and higher birth weight, and appears to be the management of choice in dichorionic twins discordant for anencephaly. In monochorionic twins, SF also increases birth weight, but in view of the complexity of this group, no clear recommendations can be made.

  9. Perinatal Outcomes of Monochorionic-Diamniotic Twin Pregnancies Uncomplicated at 28 Weeks of Gestation.

    PubMed

    Suzuki, Shunji

    2016-01-01

    We examined the prevalence of specific perinatal complications of monochorionic-diamniotic twin pregnancies in cases without any abnormal findings until the second trimester of pregnancy. This was a retrospective cohort study performed at a tertiary perinatal center in Tokyo, Japan. There were 88 cases of uncomplicated monochorionic-diamniotic twin pregnancies at 28 weeks of gestation. In five of them (5.7%), there were serious complications associated with placental circulatory imbalance between the twins during the third trimester of pregnancy. Two cases were complicated by twin-twin transfusion syndrome, two cases were complicated by twin anemia-polycythemia sequence, and one case was complicated by acute twin-twin transfusion syndrome. In the five cases, no abnormal ultrasonographic findings or symptoms were recognized one or two weeks prior to the diagnosis. Fifty-eight cases (65.9%) were delivered at term uneventfully. Serious complications due to placental circulatory imbalance between twins occurred in about 6% of cases during the third trimester of pregnancy.

  10. Chromosomal Aberrations in Monozygotic and Dizygotic Twins Versus Singletons in Denmark During 1968-2009.

    PubMed

    Kroeldrup, Lone; Larsen, Lisbeth A; Fagerberg, Christina; Hertz, Jens M; Christensen, Kaare

    2017-06-01

    Hall (Embryologic development and monozygotic twinning. Acta Geneticae Medicae et Gemellologiae, Vol. 45, 1996, pp. 53-57) hypothesized that chromosomal aberrations can lead to monozygotic (MZ) twinning. However, twinning and chromosomal aberrations increase prenatal mortality and could reduce the prevalence of chromosomal aberrations in live-born twins. We compared prevalence proportion ratios (PPR) of chromosomal aberrations and trisomy 21 (T21) in live-born twins versus singletons born in Denmark during 1968-2009. We linked the Danish Twin Registry and a 5% random sample of all singletons to the Danish Cytogenetic Central Register and calculated PPR adjusted for maternal age for MZ, dizygotic (DZ), and all twins versus singletons. Zygosity was based on questionnaires or genetic markers. No overall difference in risk of chromosomal aberrations or T21 in twins versus singletons was found. PPR in MZ and DZ twins was 0.87 (95% CI [0.60, 1.27]) and 1.05 (95% CI [0.88, 1.27]), respectively. For T21 there was a tendency to a lower prevalence in MZ twins compared to singletons (PPR: 0.29, 95% CI [0.07, 1.14]), whereas PPR was significantly increased in DZ twins (1.62, 95% CI [1.20, 2.19]). The observed proportion of MZ twin pairs among twin pairs with aberrations (0.22, 95% CI [0.16, 0.28]) was significantly lower than the proportion expected from the Weinberg method (0.32, 95% CI [CI, 0.26, 0.39]). Based on databases providing complete national coverage on twins with chromosomal aberrations, we found no overall difference in risk of chromosomal aberrations or T21 in twins versus singletons. Around conception twins may have an increased risk of chromosomal aberrations, but loss of especially MZ embryos could lead to similar risk among live-born twins and singletons.

  11. Coincidence of Incomplete Pentalogy of Cantrell and Meningomyelocele in a Dizygotic Twin Pregnancy

    PubMed Central

    Timur, Hakan; Bayram, Hatice; Şükran Çakar, Esra; Danışman, Nuri

    2015-01-01

    Pentalogy of Cantrell is an extremely rare and lethal syndrome. Ectopia cordis is frequently found in fetuses with POC but not required for incomplete forms. Likewise, meningomyelocele is a relatively uncommon neural tube defect affecting central nervous system and associated with neurological problems. Herein, we presented a woman with dizygotic twin pregnancy having coincidence of incomplete POC and MMC in each individual fetus, which has never been reported previously. PMID:26421202

  12. NOTE: Arterio-venous flow between monochorionic twins determined during intra-uterine transfusion

    NASA Astrophysics Data System (ADS)

    van Gemert, Martin J. C.; van den Wijngaard, Jeroen P. H. M.; Lopriore, Enrico; Pasman, Suzanne A.; Vandenbussche, Frank P. H. A.

    2008-04-01

    Twin-twin transfusion syndrome (TTTS) is a severe complication of monozygotic (identical) twin fetuses sharing one single (monochorionic) placenta. TTTS is caused by a net inter-twin transfusion of blood through placental anastomoses, from one twin (the donor) to the other (the recipient), which link the two feto-placental circulations. Currently, the only reliable method to measure the net inter-twin transfusion clinically is when incomplete laser therapy of TTTS occurs and one of the twins becomes anemic and requires an intra-uterine transfusion of adult red blood cells. Then, differences between adult hemoglobin concentrations measured during the transfusion and at birth relate not only to the net inter-twin transfusion but also to the finite lifetime of the adult red blood cells. We have analyzed this situation, derived the differential equations of adult hemoglobin in the donor and recipient twins, given the solutions and given expressions relating the net inter-twin flow with clinically measured parameters. We have included single and multiple intra-uterine transfusions. In conclusion, because incomplete laser therapy occurs frequently, and some cases require an intra-uterine transfusion, this method may allow collecting a wealth of net inter-twin flow data from clinicians involved in laser therapy of TTTS. To aid to the widespread use of this method, we have presented the equations as clearly as possible in tables for easy use by others.

  13. Comparisons of dermatoglyphic patterns in monochorionic and dichorionic monozygotic twins.

    PubMed Central

    Reed, T; Uchida, I A; Norton, J A; Christian, J C

    1978-01-01

    The data presented here indicate that different influences affect dermatoglyphic pattern development in MC-MZ and DC-MZ twins. Only five of 84 variables had significant mean differences but their clustering suggested a real difference in mean placement of the atd angle. Nineteen of 84 variables had significantly different within-pair mean squares for the two twin types. Larger numbers of twins will be required to obtain accurate estimates of the magnitude of the dermatoglyphic differences between MC-MZ and DC-MZ twins. Studies of dermatoglyphics in MC-MZ and DC-MZ twins are important to the understanding of factors which influence early embryonic development and when better documented may provide a mechanism for retrospectively diagnosing placental type of MZ twins. PMID:568879

  14. Placental sharing, birthweight discordance, and vascular anastomoses in monochorionic diamniotic twin placentas.

    PubMed

    Lewi, Liesbeth; Cannie, Mieke; Blickstein, Isaac; Jani, Jacques; Huber, Agnes; Hecher, Kurt; Dymarkowski, Steven; Gratacós, Eduard; Lewi, Paul; Deprest, Jan

    2007-12-01

    The purpose of this study was to examine the relationship between placental territory and birthweight discordance and vascular anastomoses in monochorionic diamniotic twin placentas from pregnancies that were not complicated by twin-to-twin transfusion syndrome with 2 liveborn twins. Placentas originated from a prospective follow-up study of monochorionic diamniotic twins included in the first trimester. After injection with dyed barium sulphate, a digital x-ray angiography and high-resolution digital photograph were taken. The 2 venous territories were delineated on the angiogram. The diameter of each arterioarterial anastomosis and of each vein that participated in an arteriovenous anastomosis was measured on the digital photograph. Net transfusion over the arteriovenous anastomoses was calculated as the difference between the total venous diameters of the 2 placental parts. One hundred placentas were analyzed. Birthweight discordance increased with placental territory discordance (P < .0001). Arterioarterial diameter (P < .01), net arteriovenous transfusion (P < .001), and total anastomotic diameter (P < .01) increased with placental territory discordance. On the other hand, birthweight discordance for a given placental territory discordance decreased with increasing arterioarterial diameter (P < .01), net arteriovenous transfusion (P < .001), and total anastomotic diameter (P < .01). In unequally shared placentas, the 2 fetal circulations are more tightly linked than in equally shared placentas, which may reduce the birthweight discordance for a given placental territory discordance.

  15. First-trimester sonographic prediction of obstetric and neonatal outcomes in monochorionic diamniotic twin pregnancies.

    PubMed

    Allaf, M Baraa; Vintzileos, Anthony M; Chavez, Martin R; Wax, Joseph A; Ravangard, Samadh F; Figueroa, Reinaldo; Borgida, Adam; Shamshirsaz, Amir; Markenson, Glenn; Davis, Sarah; Habenicht, Rebecca; Haeri, Sina; Ozhand, Ali; Johnson, Jeffery; Sangi-Haghpeykar, Haleh; Spiel, Melissa; Ruano, Rodrigo; Meyer, Marjorie; Belfort, Michael A; Ogburn, Paul; Campbell, Winston A; Shamshirsaz, Alireza A

    2014-01-01

    The purpose of this study was to investigate whether discordant nuchal translucency and crown-rump length measurements in monochorionic diamniotic twins are predictive of adverse obstetric and neonatal outcomes. We conducted a multicenter retrospective cohort study including all monochorionic diamniotic twin pregnancies with two live fetuses at the 11-week to 13-week 6-day sonographic examination who had serial follow-up sonography until delivery. Isolated nuchal translucency, crown-rump length, and combined discordances were correlated with adverse obstetric outcomes, individually and in composite, including the occurrence of 1 or more of the following in either fetus: intrauterine growth restriction (IUGR), twin-twin transfusion syndrome (TTTS), intrauterine fetal death (IUFD), growth discordance (≥ 20%), and preterm birth before 28 weeks' gestation. Correlations with adverse composite neonatal outcomes were also studied. A receiver operating characteristic curve analysis and a logistic regression analysis with a generalized estimating equation were conducted. Fifty-four of the 177 pregnancies included (31%) had an adverse composite obstetric outcome, with TTTS in 19 (11%), IUGR in 21 (12%), discordant growth in 14 (8%), IUFD in 14 (8%), and preterm birth before 28 weeks in 10 (6%). Of the 254 neonates included in the study, 69 (27%) were complicated by adverse composite neonatal outcomes, with respiratory distress syndrome being the most common (n = 59 [23%]). The areas under the curve for the combined discordances to predict composite obstetric and neonatal outcomes were 0.62 (95% confidence interval, 0.52-0.72), and 0.54 (95% confidence interval, 0.46-0.61), respectively. In our population, nuchal translucency, crown-rump length, and combined discordances in monochorionic diamniotic twin pregnancies were not predictive of adverse composite obstetric and neonatal outcomes.

  16. [Monochorionic, monoamniotic twin pregnancies. Diagnostic problems. Outcome risk factors].

    PubMed

    Pessonnier, A; Ko-Kivok-Yun, P; Fournie, A

    1994-01-01

    A monochorial monoamniotic twin pregnancy was conducted to term with the delivery of two live infants. The diagnostic problems are due to the rarity of this type of twin pregnancy. The main complications are recalled, essentially related to funicular and dystocic problems at delivery. Such pregnancies require careful management. A caesarean section should always be entertained.

  17. Placental markers of twin-to-twin transfusion syndrome in diamniotic-monochorionic twins: A morphometric analysis of deep artery-to-vein anastomoses.

    PubMed

    De Paepe, M E; Shapiro, S; Greco, D; Luks, V L; Abellar, R G; Luks, C H; Luks, F I

    2010-04-01

    Twin-to-twin transfusion syndrome (TTTS) is a multifactorial disorder that develops in 9-15% of diamniotic-monochorionic twin gestations. While the pathogenesis of TTTS remains poorly understood, unbalanced deep artery-to-vein (AV) anastomoses have traditionally been implicated in the gradual shift of blood from donor to recipient. The aim of this study was to define the placental markers of twin-to-twin transfusion syndrome, with special emphasis on the deep AV anastomoses. A prospective cohort of 284 consecutive diamniotic/monochorionic twin placentas was examined at Women and Infants Hospital between 2001 and 2008. Following exclusion of monoamniotic, multiple, disrupted and laser-treated placentas, 218 twin placentas (21 TTTS and 197 non-TTTS controls) formed the subject of this study. Placentas were injected with color-coded dyes. Anatomic characteristics and choriovascular anastomotic patterns of TTTS placentas were compared with non-TTTS controls. The TTTS placentas showed significantly higher frequencies of velamentous cord insertion, magistral vascular distribution patterns, uneven placental sharing, absence of AA anastomoses and presence of VV anastomoses. Deep AV anastomoses were identified in >or=95% of TTTS and non-TTTS placentas and were overall more abundant than previously reported. The total and net numbers of AV anastomoses were similar in both groups. However, the net cross-sectional area of AV anastomoses, which also takes into account the caliber of the vessels, was significantly smaller in TTTS placentas. There was no correlation between the direction of the AV imbalance and the twin donor/recipient status. In conclusion, TTTS has distinct placental characteristics, warranting their routine inclusion in the diamniotic-monochorionic placental pathology report. Our findings suggest imbalance of AV anastomoses is not required for the development for TTTS, although their presence, whether balanced or unbalanced, may contribute to the creation or

  18. Compatibility and conflict: negotiation of relationships by dizygotic same-sex twin girls.

    PubMed

    Danby, Susan; Thorpe, Karen

    2006-02-01

    This article conceptualizes the child as having active agency in the constructions of their social worlds, and reports on a study that understands the twin experiences from the perspectives of the twins. It examines how twins account for their relationships with their co-twins. The study drew on accounts of 60 twin children--10 monozygotic (MZ), 10 dizygotic (DZ) same-sex, 10 DZ opposite-sex pairs--aged 5 to 10 years and their parent (n = 30). The children engaged in a sticker activity in which they represented their friendships, including their friendship with their co-twin. Using the task as a resource, the children were asked about their friends, the attributes of friendship and examples of everyday friendships encounters. These were audio-recorded and transcribed. Further, parents completed a questionnaire that provided demographic information and asked parents about the children's social experiences including twin children's time spent together, shared interests and their co-twin relationship. Using data from the pictorial representation from the sticker task and parent questionnaires, differences in relationship between MZ, DZ same-sex and DZ opposite-sex twins were examined and used to select a smaller sample for detailed study. DZ same-sex twins tended to view their co-twin less favorably and there was a nonsignificant trend in which conflict was elevated, compared to the other two groups. Based on these findings, the transcripts selected for analysis focuses on the DZ same-sex girls. The girls reported that they had differences of thought, activity and self-presentation. Conflict, competition and challenge as types of social interaction were described, suggesting that the everyday relationship of the twin with her co-twin is always being negotiated and realigned. Evident here is the complexity of social interactions in which the twins engaged everyday with each other.

  19. Mode of delivery and neonatal outcome in uncomplicated monochorionic twin pregnancies.

    PubMed

    Weisz, Boaz; Hogen, Liat; Yinon, Yoav; Mazaki, Shali; Gindes, Liat; Schiff, Eyal; Lipitz, Shlomo

    2012-12-01

    The association between of mode of delivery and perinatal morbidity in monochorionic (MC) twins is not clear. Thus there is no agreement regarding the optimal mode of delivery of MC twins. The aim of this study is to determine the impact of the mode of delivery on neonatal outcome of uncomplicated MC twins in a tertiary center with a strict policy of delivering MC twins by 37 weeks' gestation. Retrospective analysis of all uncomplicated MC twin deliveries at a tertiary referral hospital during a 5-year period. Complicated MC pregnancies (fetal death, selective reduction, twin to twin transfusion syndrome, fetal growth restriction of one or both twins or major fetal anomalies) were excluded. Induction of labor or planned caesarean sections of uncomplicated MC pregnancies was conducted between 35 and 37 weeks of gestation. Neonatal outcomes of MC twins were compared according to the mode of delivery. Moreover, mode of delivery was compared with a control group of 1934 dichorionic (DC) twin pregnancies delivered during the same period. The rate of Caesarean section was 63.4% in uncomplicated MC/DA twins pregnancies and this was similar to our rate in DC twins (61%, p = 0.65). Multivariate analysis revealed that adverse neonatal outcome was significantly associated with gestational age at delivery, neonatal birth weight discordance and male gender but not with the intended or actual mode of delivery. Delivering MC twin pregnancies by 37 weeks' gestation is associated with similar rate of vaginal deliveries compared with DC twin pregnancies. The neonatal outcome was not affected by the mode of delivery, and therefore vaginal delivery seems safe in MC twins.

  20. Identical Choroid Plexus Cysts in Monozygotic Monochorionic Twins.

    PubMed

    Qureshi, Adnan I; Degenhardt, Jan; Axt-Fliedner, Roland; Kohl, Thomas

    2016-01-01

    Choroid plexus cysts have been infrequently reported with chromosomal abnormalities.Isolated choroid plexus cysts in a monozygotic twin pair hints to a genetically determined pathway as a possible cause.

  1. [Specific placental complications of monochorionic diamniotic twins born after 24 weeks of pregnancies - restrospective analysis].

    PubMed

    Vlašínová, I; Hruban, L; Janků, P; Gerychová, R; Ventruba, P; Ťápalová, V; Hodická, Z

    2015-06-01

    Purpose of this study was to determine the frequency of occurence of specific complications of monochorionic diamniotic twins born after 24 weeks of pregnancies and the effect of these complications on perinatal morbidity and mortality. Restrospective analysis. Dpt. of Obstetrics and Gynecology Masaryk University and University Hospital Brno. A retrospective analysis of 175 monochorionic diamniotic pregnancies (mo-bi), which were terminated after the 24th week of pregnancy at the Department of Obstetrics and Gynecology Masaryk University and University Hospital Brno between the years 2008-2013. The specific complications such as twin-to-twin syndrome (TTTs), twin anemia polycytemia sequens (TAPS), selective intrauterine growth restriction (sIUGR), twin-arterial revers perfusion sequence (TRAP), single intrauterine fetal death (IUFD), placental insufficiency with both twins were identified using prenatal ultrasound examinations, perinatal results and the result of pathological anatomical examinations. Perinatal morbidity, neonatal mortality and neurological development were evaluated. The numbers of late detections of specific complications were observed. Specific complications in our group were identified in 50 pregnancies (28.6%). TTTs was diagnosed most often, by 18 pregnancies (10.3%), next most frequent diagnosis were sIUGR (9.7%) and TAPS (3.4%). The placental insufficiency with both twins complicated 2.6% pregnancies. 10 children had abnormal neurological development. Pregnancies with late detection had the worst perinatal results. No acute TTTs during delivery was detected. Specific placental complication reached 29.7% in our file. The most frequent complication was TTTs (10.3%) and selective growth restriction (9.7%). Pregnancies with late diagnosis of these complications had the worst results. The prenatal care by monochorial biamnial pregnancies should be at specialized centres from the 16th week of pregnancy every two weeks.

  2. Cerebral Lesions at Fetal Magnetic Resonance Imaging and Neurologic Outcome After Single Fetal Death in Monochorionic Twins.

    PubMed

    Jatzko, Birgit; Rittenschober-Böhm, Judith; Mailath-Pokorny, Mariella; Worda, Christof; Prayer, Daniela; Kasprian, Gregor; Worda, Katharina

    2015-10-01

    Single fetal death (sFD) in monochorionic twin pregnancies is associated with substantial morbidity and mortality in the survivor. The aim of our study was to evaluate the rate of cerebral lesions detected at fetal Magnetic Resonance Imaging (MRI) and to correlate the results with the neurologic outcome of the survivors of monochorionic twin pregnancies after sFD. Between 2005 and 2012, 11 monochorionic twin pregnancies with sFD and subsequent fetal MRI of the survivor were included. All neonates underwent neurologic assessment after birth and 56% of surviving infants underwent long-term neurologic assessment. MRI findings and neurologic outcome of the survivors were evaluated. Gestational age at sFD was 20.9 (±2.9) weeks; 55% (6/11) of survivors of monochorionic twin pregnancies after sFD showed cerebral lesions at fetal MRI; 72% (8/11) of all survivors had normal neonatal neurologic outcome: all survivors with normal fetal MRI and 50% of survivors with cerebral lesions at fetal MRI. Long-term neurologic assessment was normal in all tested patients with normal fetal MRI and in one of three tested patients with cerebral lesions at fetal MRI. Survivors of monochorionic twin pregnancies after sFD show a high rate of cerebral lesions at fetal MRI. The importance of cerebral lesions at fetal MRI in survivors after sFD in monochorionic twin pregnancies is uncertain. All tested survivors with normal fetal MRI showed normal neurologic outcome but only one of three survivors with cerebral lesions at fetal MRI showed normal long-term neurologic outcome.

  3. [Selective termination of pregnancy for monochorionic twins: a national survey of professional practice].

    PubMed

    Arlicot, C; Potin, J; Simon, E; Perrotin, F

    2014-06-01

    Selective Termination of Pregnancy (STOP) for discordant fetal condition in monochorionic twin pregnancy is a rarely performed procedure raising technical and ethical considerations. There are no epidemiological data available in France concerning STOP and no guideline or scientific consensus on how or when to perform has been published. We conducted a study of national practice using a declarative questionnaire sent by e-mail to each medical coordinator of every 48 Multidisciplinary Center for Prenatal Diagnosis in France. The questions focused on the issues of 2010 and 2011. Two reminders were sent in case of no answer. The response rate to the questionnaire was 56 %; 81 % of centers have experienced at least once during the two years 2010-2011 a discordant fetal anomaly in monochorionic twin pregnancy. Only 59 % of centers perform all the techniques of STOP. When interruption of the umbilical blood flow is considered, bipolar forceps coagulation is the most used (75 %). Achieving STOP during a cesarean section is a common practice (75 % of centers). Locoregional anesthesia is the preferred mode of anesthesia for STOP. STOP on monochorionic twin pregnancy is not practiced in all Multidisciplinary Center for Prenatal Diagnosis in France. The most widely practiced and most studied technique is bipolar forceps coagulation. The option of an expectant management should always be considered and its risks should be balanced with those of STOP. The practice of STOP during cesarean section is not unusual. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  4. Very Low Birth Weight Monochorionic Diamniotic Twins as a Risk Factor for Symptomatic Patent Ductus Arteriosus.

    PubMed

    Yamaguchi, Hiroshi; Wada, Keiko; Nagasawa, Miho; Kikusui, Takefumi; Sakai, Hitomi; Mizobuchi, Masami; Yoshimoto, Seiji; Nakao, Hideto

    2016-01-01

    Some prior studies have shown that symptomatic patent ductus arteriosus (sPDA) is highly familial. Although it is estimated that both genetic and environmental factors may contribute to sPDA, evidence is still lacking. The aim of this study was to determine the risk factors for sPDA, focusing on the genetic and in utero environment by analyzing very low birth weight (VLBW) singletons and twins. This retrospective case-control study reviewed the medical records of 445 VLBW infants (25 weeks ≤ gestational age <32 weeks, 600 g ≤ birth weight <1,500 g) and compared the incidence of sPDA among monochorionic diamniotic (MD) twins (n = 65), dichorionic diamniotic (DD) twins (n = 66), and singletons (n = 314). Stepwise multiple regression analysis showed that twin siblings (p = 0.001), gestational week (p < 0.001), antenatal steroid use (p = 0.021), and premature rupture of membranes (p = 0.002) were independent predictors of sPDA. Incidence of sPDA in MD twin siblings was significantly higher than that in singletons (p < 0.01), whereas no significant difference was found between singletons and DD twins or between MD and DD twins. The current results show that being a VLBW MD twin is an independent risk factor for sPDA, and that both genetic and in utero environmental factors may contribute to its development. © 2016 S. Karger AG, Basel.

  5. Identical monochorionic twins with down syndrome and paternal origin of the extra chromosome 21.

    PubMed

    Urumova, A; Tasic, Velibor; Bojadjieva, E; Pomponi, M G; Neri, G; Gucev, Z

    2012-01-01

    Trisomy 21, the cause of Down syndrome (DS), is the most frequent trisomy in humans. The risk for DS increases with maternal age: mothers under 25 years of age are known to have an average risk of a DS pregnancy of 1: 1600, rising to 1: 350 at age 35 and to 1: 40 at 43, respectively. Twins with DS are rare. We report on monozygotic (MZ), monochorionic twin sisters with DS, whose parents are young (24 and 26 years old, respectively) and healthy. Family history is non contributory; pregnancy and delivery were uneventful. Both girls presented at birth with clinical manifestations of Down syndrome, that was confirmed cytogenetically (47XX,+21). Microsatellites analysis indicated that the twins are identical and that the extra chromosome 21 was of paternal origin. For practical purposes, the causative non disjunction should be considered a single sporadic event, with an empirical recurrence risk estimated at about 1%.

  6. Conservative treatment for interstitial monochorionic twin pregnancy: case report and review of the published work.

    PubMed

    Berretta, Roberto; Merisio, Carla; Dall'Asta, Andrea; Verrotti, Carla; Rolla, Martino; Bruni, Stefano; Bacchi Modena, Alberto

    2014-03-01

    Interstitial pregnancy is considered one of the most hazardous types of ectopic pregnancies, with a mortality rate of 2-2.5%. We describe a case of a viable monochorionic twin pregnancy in a 35-year-old woman successfully treated with systemic methotrexate associated with bilateral uterine arteries' embolization. β-hCG was undetectable 67 days after the first administration of methotrexate and the ultrasonography performed on day 67 showed the remnant of the gestational sac in the right uterine horn, a thin endometrium and a normal myometrial vascularization. Conservative treatment allowed us to avoid surgical treatment and to preserve the patient's fertility.

  7. Suicidal Behaviors in Surviving Monozygotic and Dizygotic Co-Twins: Is the Nature of the Co-Twin's Cause of Death a Factor?

    ERIC Educational Resources Information Center

    Segal, Nancy L.

    2009-01-01

    Genetically informative samples can address hereditary and experiential influences on suicide-related behaviors. The frequency of suicide-related behaviors was compared in twins from two survivor groups: (1) those whose co-twins' deaths were suicides (monozygotic [MZ]: n = 47; dizygotic [DZ]: n = 31), and (2) those whose co-twins' deaths were…

  8. Suicidal Behaviors in Surviving Monozygotic and Dizygotic Co-Twins: Is the Nature of the Co-Twin's Cause of Death a Factor?

    ERIC Educational Resources Information Center

    Segal, Nancy L.

    2009-01-01

    Genetically informative samples can address hereditary and experiential influences on suicide-related behaviors. The frequency of suicide-related behaviors was compared in twins from two survivor groups: (1) those whose co-twins' deaths were suicides (monozygotic [MZ]: n = 47; dizygotic [DZ]: n = 31), and (2) those whose co-twins' deaths were…

  9. Analysis of middle cerebral artery peak systolic velocity in monochorionic twin pregnancies as a method for identifying spontaneous twin anaemia-polycythaemia sequence.

    PubMed

    Sainz, José A; Romero, Cristina; García-Mejido, José; Soto, Fátima; Turmo, Enriqueta

    2014-07-01

    A regular Doppler control evaluation of middle cerebral artery peak systolic velocity is needed in order to identify twin anaemia polycythaemia sequence in monochorionic twin pregnancies. Here, we present a clinical case of spontaneous TAPS, and we review the diagnostic criteria and management strategies for this syndrome.

  10. Dizygotic twins discordant for early-onset Citrobacter koseri and group B streptococcal sepsis.

    PubMed

    Lin, Wei-Jen; Wang, Chih-Chien; Lo, Wen-Tsung; Chu, Mong-Ling; Lee, Chuen-Ming

    2005-05-01

    Early-onset neonatal sepsis is usually a multisystem fulminant illness with prominent respiratory symptoms, and typically the infant has acquired the organism from the maternal genital tract during the intrapartum period. In this article, we report a rare case of dizygotic twins where each individual suffered early-onset sepsis caused by a different pathogen. Group B streptococcal (GBS) sepsis was diagnosed in twin A 1 day after birth; sepsis and meningitis caused by Citrobacter koseri was diagnosed in twin B at the age of the 4 days. The mother developed pre-eclampsia and fever and the twins were delivered via cesarean section at 35 week's gestation. Twin A received ampicillin treatment for 14 days and recovered fully. Twin B was treated with ceftriaxone for 4 weeks and follow-up brain ultrasound revealed persistent enlargement of the bilateral-lateral ventricles. When empiric antibiotic is considered for the symptomatic twin of a sibling with early-onset GBS infection, samples of blood and cerebrospinal fluid (CSF) should be obtained for culture study before treatment. Adjustment of antibiotic treatment based on the results of cultures and CSF Gram stain and antibiotic susceptibility test is essential.

  11. A case of monochorionic-diamniotic twin pregnancy with polyhydramnios-polyhydramnios sequence.

    PubMed

    Inde, Yusuke; Miyake, Hidehiko; Takaya, Akane; Ono, Shuichi; Igarashi, Miwa; Suzuki, Shunji

    2009-04-01

    We present a case of monochorionic-diamniotic (MD) twin pregnancy with polyhydramnios-polyhydramnios sequence. A 20-year-old woman, gravida 1, para 0, was referred to our hospital at 31 weeks and 6 days' gestation for consultation about a high-risk pregnancy due to the presence of discordant fetal growth pattern (26% of fetal growth discordance) with polyhydramnios in MD twin pregnancy. Ultrasound examination at admission showed a maximal vertical pocket (MVP) of 11.4 cm in twin A and an MVP of 4.7 cm in twin B. At 33 weeks' gestation, the MVPs had increased to 22.2 cm and 10.2 cm, respectively. At 33 weeks and 2 days' gestation, Cesarean section was performed because of uncontrolled uterine contractions associated with polyhydramnios. Twin A was a female weighing 2,280 g, and twin B was a female weighing 1,782 g (22% growth discordance). The estimated amniotic fluid volumes of twins A and B were 5,000 and 1,000 mL, respectively.

  12. A novel C-terminal truncating NR5A1 mutation in dizygotic twins

    PubMed Central

    Hattori, Atsushi; Zukeran, Hiroaki; Igarashi, Maki; Toguchi, Suzuka; Toubaru, Yuji; Inoue, Takanobu; Katoh-Fukui, Yuko; Fukami, Maki

    2017-01-01

    Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating NR5A1 mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development. Our results highlight the functional importance of C-terminal region of NR5A1 and indicate that NR5A1 mutations can be associated with intrafamilial phenotypic variations, progressive testicular dysfunction, hypogonadotropic hypogonadism, and borderline adrenal dysfunction. PMID:28326187

  13. A novel C-terminal truncating NR5A1 mutation in dizygotic twins.

    PubMed

    Hattori, Atsushi; Zukeran, Hiroaki; Igarashi, Maki; Toguchi, Suzuka; Toubaru, Yuji; Inoue, Takanobu; Katoh-Fukui, Yuko; Fukami, Maki

    2017-01-01

    Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating NR5A1 mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development. Our results highlight the functional importance of C-terminal region of NR5A1 and indicate that NR5A1 mutations can be associated with intrafamilial phenotypic variations, progressive testicular dysfunction, hypogonadotropic hypogonadism, and borderline adrenal dysfunction.

  14. Estimating the Risk of Monochorionic Twins in IVF Pregnancies From the Perspective of a Prenatal Diagnosis Unit.

    PubMed

    Sarais, Veronica; Paffoni, Alessio; Baffero, Giulia Maria; Parazzini, Fabio; Persico, Nicola; Somigliana, Edgardo

    2016-02-01

    The aim of the present work was to estimate the risk of monochorionic twin (MCT) pregnancies in in vitro fertilization (IVF) cycles using data from a prenatal diagnosis unit. This was a retrospective cross-sectional study reporting on the frequency of IVF pregnancies among women attending a prenatal diagnosis service specifically dedicated to the management of monochorionic pregnancies. The observed rate was compared with the local regional rate of IVF births (2.2%). A binomial distribution model was used to calculate the 95% CI of proportions. One hundred and forty-five monochorionic pregnancies were selected. Ten of these were achieved with IVF, corresponding to a rate of 6.9% (95% CI: 3.5-11.8), significantly higher than the background rate in the local population of 2.2%. When considering exclusively monochorionic pregnancies achieving delivery of two viable newborns (n = 132), the number of IVF pregnancies was nine (6.8%, 95% CI: 3.7-12.5). We did not detect major differences in pregnancy outcome between IVF and natural monochorionic pregnancies, with the exception of the proportion of newborns with a neonatal birth < 2,500 g (100% vs. 80%, p = .03). In conclusion, data obtained from the perspective of a prenatal diagnosis unit suggest that women undergoing IVF face a 3- to 4-fold increased risk of monochorionic pregnancies.

  15. Prevalence and Heritability of Early Childhood Caries Among Monozygotic and Dizygotic Twins.

    PubMed

    Kuppan, Anuradha; Rodrigues, Steven; Samuel, Victor; Ramakrishnan, Mahesh; Halawany, Hassan S; Abraham, Nimmi B; Jacob, Vimal; Anil, Sukumaran

    2017-02-01

    Deciphering the relative importance of genetic and environmental factors, which play a major role in the prevalence of early childhood caries (ECC), can help clinicians with planning a long-term preventive treatment. The objective of the study was to determine the prevalence and heritability of ECC among monozygotic (MZ) and dizygotic (DZ) twins in Chennai, India, in the year 2013. A cross-sectional study was designed to estimate the prevalence of ECC among twins. Zygosity classification for the survey framework was adapted from a highly accurate parental report questionnaire pertaining to the physical similarity between twins. The associated heritability index was estimated. The Decayed, Missing, Filled Surface (DMFS) Index was used as the diagnostic criterion for dental caries. The prevalence of ECC was estimated at 18.7%. The correlation coefficient between the twin pair showed significant correlation. The heritability index for ECC was estimated at 15% higher prevalence of ECC found among children in the age group 25-36 months. The heritability estimate indicated a relatively low genetic influence for early childhood caries among twins. There was no significant difference detected in the concordance rate for the MZ and DZ twins. Further research could be directed toward the prevalence of ECC among higher age group children to explore the role of genetic and environmental factors.

  16. Mirror imaging of impacted and supernumerary teeth in dizygotic twins: A case report.

    PubMed

    Cassetta, Michele; Altieri, Federica; Giordano, Alessandra

    2015-02-01

    Mesiodens is the most common type of supernumerary tooth found in the premaxilla. It might be discovered by the clinical examination by chance on a radiograph or as the cause of an unerupted maxillary central incisor. The genetic transmission of supernumerary and impacted teeth is poorly understood. Mirror imaging in twins has been reported frequently in relation to several unilateral dental anomalies including mesiodens. This phenomenon is the appearance of an asymmetrical feature or anomaly occurring on the right side of one twin but on the left side of the other twin. The event of mesiodens mirror imaging in monozygotic twins has been described in literature. This is the first reported case of mesiodens mirror images in dizygotic twins. The de-scribed mesiodens caused the eruption failure of maxillary permanent incisors. The super-numerary teeth were removed to facilitate the spontaneous eruption of the impacted perma-nent maxillary incisors. Studies related to supernumerary teeth can be useful to clinicians in the early diagnosis of this anomaly. Clinical and radiographic examinations provide a correct therapeutic approach. Key words:Supernumerary teeth, twins, dental development.

  17. Mirror imaging of impacted and supernumerary teeth in dizygotic twins: A case report

    PubMed Central

    Altieri, Federica; Giordano, Alessandra

    2015-01-01

    Background: Mesiodens is the most common type of supernumerary tooth found in the premaxilla. It might be discovered by the clinical examination by chance on a radiograph or as the cause of an unerupted maxillary central incisor. The genetic transmission of supernumerary and impacted teeth is poorly understood. Mirror imaging in twins has been reported frequently in relation to several unilateral dental anomalies including mesiodens. This phenomenon is the appearance of an asymmetrical feature or anomaly occurring on the right side of one twin but on the left side of the other twin. The event of mesiodens mirror imaging in monozygotic twins has been described in literature. Results: This is the first reported case of mesiodens mirror images in dizygotic twins. The de-scribed mesiodens caused the eruption failure of maxillary permanent incisors. The super-numerary teeth were removed to facilitate the spontaneous eruption of the impacted perma-nent maxillary incisors. Clinical Implications: Studies related to supernumerary teeth can be useful to clinicians in the early diagnosis of this anomaly. Clinical and radiographic examinations provide a correct therapeutic approach. Key words:Supernumerary teeth, twins, dental development. PMID:25810831

  18. IQ similarity in monozygotic and dizygotic twin children: effects of the same versus different examiners: a research note.

    PubMed

    Segal, N L; Russell, J

    1991-05-01

    The Wechsler Intelligence Scale for Children--Revised was administered to two independently identified samples of monozygotic (MZ) and dizygotic (DZ) twin children. Co-twins in the first sample were tested by the same examiner, while co-twins in the second sample were tested by different examiners. IQ intraclass correlations were similar for the two MZ twin samples (.84 and .88), and identical for the two DZ twin samples (.54). The implications of this analysis are discussed with reference to twin study methodology, research on IQ similarity and replication of child development research.

  19. Long-Term Neurodevelopmental Outcome of Monochorionic and Matched Dichorionic Twins

    PubMed Central

    Hack, Karien E. A.; Koopman-Esseboom, Corine; Derks, Jan B.; Elias, Sjoerd G.; de Kleine, Martin J. K.; Baerts, Wim; Go, Attie T. J. I.; Schaap, Arty H. P.; van der Hoeven, Mark A. H. B. M.; Eggink, Alex J.; Sollie, Krystyna M.; Weisglas-Kuperus, Nynke; A.Visser, Gerard H.

    2009-01-01

    Background Monochorionic (MC) twins are at increased risk for perinatal mortality and serious morbidity due to the presence of placental vascular anastomoses. Cerebral injury can be secondary to haemodynamic and hematological disorders during pregnancy (especially twin-to-twin transfusion syndrome (TTTS) or intrauterine co-twin death) or from postnatal injury associated with prematurity and low birth weight, common complications in twin pregnancies. We investigated neurodevelopmental outcome in MC and dichorionic (DC) twins at the age of two years. Methods This was a prospective cohort study. Cerebral palsy (CP) was studied in 182 MC infants and 189 DC infants matched for weight and age at delivery, gender, ethnicity of the mother and study center. After losses to follow-up, 282 of the 366 infants without CP were available to be tested with the Griffiths Mental Developmental Scales at 22 months corrected age, all born between January 2005 and January 2006 in nine perinatal centers in The Netherlands. Due to phenotypic (un)alikeness in mono-or dizygosity, the principal investigator was not blinded to chorionic status; perinatal outcome, with exception of co-twin death, was not known to the examiner. Findings Four out of 182 MC infants had CP (2.2%) - two of the four CP-cases were due to complications specific to MC twin pregnancies (TTTS and co-twin death) and the other two cases of CP were the result of cystic PVL after preterm birth - compared to one sibling of a DC twin (0.5%; OR 4.2, 95% CI 0.5–38.2) of unknown origin. Follow-up rate of neurodevelopmental outcome by Griffith's test was 76%. The majority of 2-year-old twins had normal developmental status. There were no significant differences between MC and DC twins. One MC infant (0.7%) had a developmental delay compared to 6 DC infants (4.2%; OR 0.2, 95% 0.0–1.4). Birth weight discordancy did not influence long-term outcome, though the smaller twin had slightly lower developmental scores than its larger co-twin

  20. Sirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital.

    PubMed

    Nokeaingtong, Kwannapas; Kaewchai, Sirirat; Visrutaratna, Pannee; Khuwuthyakorn, Varangthip

    2015-05-14

    Those born with sirenomelia, a rare congenital anomaly, have features resembling a mermaid. Characteristics of sirenomelia are a single lower limb, sacral and pelvic bone defects, and anorectal and urogenital malformations. There is an increased incidence of sirenomelia in males and twins. This case was a preterm male, dizygotic twin and product of in vitro fertilisation. The baby was born by caesarean section due to breech presentation. He was found to have a fused lower extremity and absent external genitalia and anus. The baby passed away shortly after birth due to severe respiratory failure. Radiographic findings showed small lung volume and pneumothoraces. There were multiple segmental fusions of the vertebrae. Single femur and single tibia were presented in a fused lower limb. Autopsy demonstrated large intestinal atresia, intra-abdominal testes, absence of kidney, ureter and bladder, single umbilical artery, agenesis of blood vessels at lower extremity and agenesis of sacrum and coccyx.

  1. [Blood cell chimerism in dizygotic twins conceived by in vitro fertilization].

    PubMed

    Martos-Moreno, G Á; Campos, C; Flores, R; Yturriaga, R; Pérez-Jurado, L A; Argente, J

    2013-10-01

    We present a case of hematopoietic chimerism in dizygotic twins (male and female) conceived by in vitro fertilization (IVF). At 8 years of age a blood karyotype was performed on the female due to the presence of clitoromegaly. Two different lines: 46,XX (53%) and 46,XY (47%) were found. FISH studies confirmed the presence of the SRY gene in 46,XY cells. Karyotyping of the male showed two different lines: 46,XY (58%) and 46,XX (42%). SRY gene was present in 46,XY cells. Microsatellite analyses of blood DNA revealed tetra-allelic contribution at some autosomal loci with similar proportions of maternal and paternal alleles and X/Y chromosome dose. FISH in buccal mucous showed that all cells from the female were 46,XX and those from the male 46,XY. The gonadal karyotype in the female was 46,XX without SRY. Hence, we report 46,XX/46,XY chimerism in dizygotic twins. Blood chimerism was confirmed by performing FISH on the buccal cells of the patients.

  2. Correlation between Chronological Age, Dental Age and Skeletal Age among Monozygoyic and Dizygotic Twins

    PubMed Central

    Gupta, Mohit; Divyashree, R; Abhilash, PR; A Bijle, Mohammed Nadeem; Murali, KV

    2013-01-01

    Introduction: Chronological age, dental development, height and weight measurements, sexual maturation characteristics and skeletal age are some biological indicators that have been used to identify time of growth. Many researchers have agreed that skeletal maturity is closely related to the craniofacial growth, and bones of hand and wrist are reliable parameters in assessing it. The complete hand and wrist radiograph involves 30 bones and assessment of these bones is one elaborate task. The present study is therefore, undertaken to assess the correlation between the chronological age, dental age and skeletal ages among different types of twins. Materials and Methods: The study consisted of 60 subjects (30 twins) aged 8 to 16 years, divided into group of 10 monozygotic, 10 dizygotic and 10 mixed sex twins. The sample was selected from Twin Survey- 2008 conducted by Department of Orthodontics and Dentofacial Orthopaedics, Sree Balaji Dental College and Hospital, Chennai. Their zygosity was determined by sex, blood groups and by the parent. The chronological age was measured by the date of birth given by the parents. Panoramic and hand wrist x-rays were taken. Dental age was assessed by Demerjian et al method and skeletal age by Greulich and Pyle method. The correlation among twins in dental and skeletal ages with the chronological age was assessed using Correlation Coefficient and Student's't' Test. Results: The obtained data was fed into the computer and statistical analysis was done for the same using the SPSS version 10.0. Statistical significance was tested at P<0.05 level. Mean and Standard Deviation, Correlation Coefficient, Student's't' Test statistical methods were employed. The result showed highly significant 'p' value as <0.001 in all the correlations except for mixed pairs. Descriptive statistics in most of the areas demonstrated a non-significant result between zygosity groups. Conclusion: There is a correlation existing between the individual

  3. Dizygotic twin pregnancies after medically assisted reproduction and after natural conception: maternal and perinatal outcomes.

    PubMed

    Bensdorp, Alexandra J; Hukkelhoven, Chantal W; van der Veen, Fulco; Mol, Ben W J; Lambalk, Cornelis B; van Wely, Madelon

    2016-08-01

    To compare maternal and perinatal outcomes in dizygotic twin pregnancies conceived after medically assisted reproduction (MAR) with outcomes after natural conception (NC). Nationwide registry based study. Academic medical center. Primiparous women who delivered opposite sex twins between January 2000 and December 2012 in the Netherlands, comprising dizygotic twin pregnancies: 6,694 women, 470 after ovulation induction (OI), 511 after intrauterine insemination with controlled ovarian hyperstimulation (IUI-COH), 2,437 after in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI), and 3,276 after NC. None. Multivariable logistic regression and generalized linear mixed models to evaluate differences in outcomes: maternal outcomes of hypertension, preeclampsia, preterm delivery, hemorrhage, and delivery mode, perinatal outcomes including small for gestational age (SGA) with birth weight <10th percentile, birth weight <1,500 g, 5-minute Apgar score <7, admission to neonatal intensive care unit, congenital anomalies, and perinatal mortality. We found no statistically significant differences in maternal or perinatal outcomes after OI compared with NC. Women pregnant after IVF-ICSI had a lower risk for hypertension (adjusted odds ratio [aOR] 0.74; 95% confidence interval [CI], 0.66-0.83) compared with women pregnant after NC. After IUI-COH more children had Apgar scores <7 (adjusted odds ratio (aOR) 1.38; 95% confidence interval (CI) 1.05-1.81) and perinatal mortality rates were higher (aOR 1.56; 95% CI, 1.04-2.33) compared with NC. We found no differences in perinatal outcomes after IVF-ICSI compared with NC. Overall, maternal and perinatal risks other than those due to multiplicity are similar for twin pregnancies conceived after MAR and after NC. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  4. Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility

    PubMed Central

    Mbarek, Hamdi; Steinberg, Stacy; Nyholt, Dale R.; Gordon, Scott D.; Miller, Michael B.; McRae, Allan F.; Hottenga, Jouke Jan; Day, Felix R.; Willemsen, Gonneke; de Geus, Eco J.; Davies, Gareth E.; Martin, Hilary C.; Penninx, Brenda W.; Jansen, Rick; McAloney, Kerrie; Vink, Jacqueline M.; Kaprio, Jaakko; Plomin, Robert; Spector, Tim D.; Magnusson, Patrik K.; Reversade, Bruno; Harris, R. Alan; Aagaard, Kjersti; Kristjansson, Ragnar P.; Olafsson, Isleifur; Eyjolfsson, Gudmundur Ingi; Sigurdardottir, Olof; Iacono, William G.; Lambalk, Cornelis B.; Montgomery, Grant W.; McGue, Matt; Ong, Ken K.; Perry, John R.B.; Martin, Nicholas G.; Stefánsson, Hreinn; Stefánsson, Kari; Boomsma, Dorret I.

    2016-01-01

    Spontaneous dizygotic (DZ) twinning occurs in 1%–4% of women, with familial clustering and unknown physiological pathways and genetic origin. DZ twinning might index increased fertility and has distinct health implications for mother and child. We performed a GWAS in 1,980 mothers of spontaneous DZ twins and 12,953 control subjects. Findings were replicated in a large Icelandic cohort and tested for association across a broad range of fertility traits in women. Two SNPs were identified (rs11031006 near FSHB, p = 1.54 × 10−9, and rs17293443 in SMAD3, p = 1.57 × 10−8) and replicated (p = 3 × 10−3 and p = 1.44 × 10−4, respectively). Based on ∼90,000 births in Iceland, the risk of a mother delivering twins increased by 18% for each copy of allele rs11031006-G and 9% for rs17293443-C. A higher polygenic risk score (PRS) for DZ twinning, calculated based on the results of the DZ twinning GWAS, was significantly associated with DZ twinning in Iceland (p = 0.001). A higher PRS was also associated with having children (p = 0.01), greater lifetime parity (p = 0.03), and earlier age at first child (p = 0.02). Allele rs11031006-G was associated with higher serum FSH levels, earlier age at menarche, earlier age at first child, higher lifetime parity, lower PCOS risk, and earlier age at menopause. Conversely, rs17293443-C was associated with later age at last child. We identified robust genetic risk variants for DZ twinning: one near FSHB and a second within SMAD3, the product of which plays an important role in gonadal responsiveness to FSH. These loci contribute to crucial aspects of reproductive capacity and health. PMID:27132594

  5. Sleep EEG composition in the first three months of life in monozygotic and dizygotic twins.

    PubMed

    Vucinovic, Mirjana; Kardum, Goran; Bonkovic, Mirjana; Resic, Biserka; Ursic, Anita; Vukovics, Jonatan

    2014-07-01

    We investigated genetic influence on sleep electroencephalogram (EEG) composition by a classical twin study of monozygotic (MZ) and dizygotic (DZ) twins in the first 3 months of life. Polysomnographic (PSG) recordings were obtained in 10 MZ and 20 DZ twin pairs in the 37th, 46th, and 52nd week of postmenstrual age (PMA). The EEG power spectra were generated on the basis of fast Fourier transformation (FFT). Genetic influence on active sleep/rapid eye movement (AS/REM)] and quiet sleep/non rapid eye movement (QS/NREM) sleep composition was estimated by calculating within pair concordance and the intraclass correlation coefficients (ICCs) for delta (0.5-3.5 Hz), theta (4-7.5 Hz), alpha (8-11.5 Hz), sigma (12-14 Hz), and beta (14.5-20 Hz) at central derivation. MZ twins show higher ICCs than DZ twins for alpha, sigma, and beta spectral powers during QS/NREM sleep in the 37th, 46th, and 52nd week PMA. However, there was no significant difference (P > .05) between the 2 types of twins in absolute differences of EEG spectral power of the alpha, beta, and sigma frequency ranges in the 37th, 46th, and 52nd week PMA. The greatest mean absolute difference within MZ and DZ twin pairs and also between MZ and DZ twin groups was identified in the delta frequency range. Our findings gave an indication of genetic influence on alpha, sigma, and beta frequency ranges in the QS/NREM sleep stage.

  6. Leptin is differentially expressed and epigenetically regulated across monochorionic twin placenta with discordant fetal growth.

    PubMed

    Schrey, S; Kingdom, J; Baczyk, D; Fitzgerald, B; Keating, S; Ryan, G; Drewlo, S

    2013-11-01

    Severely growth-discordant monochorionic (MC) twins offer a unique opportunity to study fetal and placental growth based on a similar genetic background and maternal host environment where the healthy twin serves as an ideal control. Differences in development of MC twins may therefore be due to differential epigenetic regulation of genes involved in placental development and function. Growth-discordant twins are known for abnormal angio-architecture in the placenta of the smaller twin. Since the reasons for this phenotype are mostly unknown this study was aimed to investigate the expression and regulation of genes known to be involved in angiogenesis. We studied 10 severely growth-discordant MC twin placentas (birthweight difference ≥20%) without twin-twin-transfusion syndrome and 5 growth-concordant MC twin placentas. Growth-discordant twin placentas were phenotyped by histology. Placental mRNA expression of 88 angiogenesis-related genes was measured by PCR array. ELISA assay and immunohistochemistry were used to confirm PCR results. EpiTYPTER for DNA methylation was used to determine if methylation ratios were responsible for differential gene expression. The PCR array analysis showed significant mRNA up-regulation in the placental share of the smaller twin for several genes. These included leptin (24.6-fold, P = 0.017), fms-like tyrosine kinase 1 (Flt1, 2.4-fold, P = 0.016) and Endoglin (Eng, 1.86-fold, P = 0.078). None of the other 84 angiogenesis-related genes showed significant differences. ELISA confirmed significantly increased leptin protein expression (49.22 versus 11.03 pg/ml, P = 0.049) in the smaller twin of the discordant growth cohort. Leptin expression in smaller twins' placentas was associated with elevated DNA methylation of the leptin promotor region suggesting the inhibition of binding of a transcriptional activator/inhibitor in that region. We attempted to overcome the limitation of sample size by careful patient selection. We minimized any

  7. Doppler detection of arterio-arterial anastomoses in monochorionic twins: feasibility and clinical application.

    PubMed

    Taylor, M J; Denbow, M L; Tanawattanacharoen, S; Gannon, C; Cox, P M; Fisk, N M

    2000-07-01

    The accuracy of in-vivo detection of arterio-arterial anastomoses (AAA) in monochorionic (MC) twins and its predictive value for twin-twin transfusion syndrome (TTTS) was assessed in 105 consecutive MC twins scanned at fortnightly intervals. AAA were sought using spectral and colour energy Doppler and ultrasound findings were compared with placental injection studies. AAA were identified in vivo in 59 (56%) pregnancies and at injection study in 68 (65%). The overall sensitivity and specificity was 85 and 97.3% respectively for the detection of AAA. Detection rates were higher at later gestations, with anterior placentae and with larger diameter AAA. The median insonation time to detect an AAA was 10 min (range 1-30). Where an AAA was identified, 15% of pregnancies (nine of 59) developed TTTS compared to 61% (28 of 46) when no AAA was seen (odds ratio 8.6). We conclude that AAA can be detected in vivo with high sensitivity and specificity without undue prolongation of scanning times and have a role in risk stratification in the antenatal assessment of MC twins.

  8. Placental weight and birth weight to placental weight ratio in monochorionic and dichorionic growth-restricted and non-growth-restricted twins

    PubMed Central

    Souza, Mariângela Alves; de Lourdes Brizot, Maria; Biancolin, Sckarlet Ernandes; Schultz, Regina; de Carvalho, Mário Henrique Burlacchini; Francisco, Rossana Pulcineli Vieira; Zugaib, Marcelo

    2017-01-01

    OBJECTIVE: The aim of the present study was to compare the placental weight and birth weight/placental weight ratio for intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins. METHODS: This was a retrospective analysis of placentas from twin pregnancies. Placental weight and the birth weight/placental weight ratio were compared in intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins. The association between cord insertion type and placental lesions in intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins was also investigated. RESULTS: A total of 105 monochorionic (intrauterine growth restriction=40; non-intrauterine growth restriction=65) and 219 dichorionic (intrauterine growth restriction=57; non-intrauterine growth restriction=162) placentas were analyzed. A significantly lower placental weight was observed in intrauterine growth-restricted monochorionic (p=0.022) and dichorionic (p<0.001) twins compared to non-intrauterine growth-restricted twins. There was no difference in the birth weight/placental weight ratio between the intrauterine growth restriction and non-intrauterine growth restriction groups for either monochorionic (p=0.36) or dichorionic (p=0.68) twins. Placental weight and the birth weight/placental weight ratio were not associated with cord insertion type or with placental lesions. CONCLUSION: Low placental weight, and consequently reduced functional mass, appears to be involved in fetal growth restriction in monochorionic and dichorionic twins. The mechanism by which low placental weight influences the birth weight/placental weight ratio in intrauterine growth-restricted monochorionic and dichorionic twins needs to be determined in larger prospective studies. PMID:28591337

  9. Selective reduction in complicated monochorionic twins: prediction of obstetric outcome and comparison of techniques.

    PubMed

    Yinon, Y; Ashwal, E; Weisz, B; Chayen, B; Schiff, E; Lipitz, S

    2015-12-01

    To compare the outcomes of radiofrequency ablation (RFA) and bipolar cord coagulation (BPC) methods for selective feticide in complicated monochorionic (MC) twin gestations and to determine risk factors for adverse pregnancy outcome. This was a retrospective cohort study of all patients with complicated MC twin pregnancy who underwent selective reduction in a single tertiary care center between 2000 and 2014. We compared the two methods with respect to various demographic, obstetric and perinatal outcome variables. Fifty-three selective terminations in complicated MC twin gestations were performed, 36 by RFA and 17 by BPC. Each technique resulted in a similar overall survival rate of the remaining twin (88.9% vs 76.5%, P = 0.25). Likewise, the mean procedure-to-delivery interval, the rate of spontaneous preterm delivery < 37, < 34, < 32 and < 28 weeks and the rate of preterm prelabor rupture of the membranes did not differ between the groups. However, among patients in the BPC group, there was a trend towards earlier gestational age at delivery (31.3 vs 35.0 weeks, P = 0.09) compared with in the RFA group. There was selective reduction by RFA due to selective intrauterine growth restriction (sIUGR) in 19 cases, 17 (89.5%) of which survived perinatally, with delivery at a median gestational age of 37 weeks. There were no significant differences in perinatal outcome, irrespective of whether the procedure was performed pre- or post-viability. All post-viability reductions, most of which were by RFA, resulted in perinatal survival. Perinatal outcome of complicated MC twin gestations undergoing selective feticide seems to be similar regardless of whether termination is by BPC or RFA. Nevertheless, RFA appears to be particularly useful in MC twins complicated by sIUGR and in cases requiring selective reduction beyond the age of viability. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

  10. Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes.

    PubMed

    Bohec, Caroline; Douet-Guilbert, Nathalie; Basinko, Audrey; Le Bris, Marie-Josée; Marcorelles, Pascale; Audrézet, Marie-Pierre; Tetefort, Rémi; Bages, Karine; Collet, Michel; Morel, Frederic; De Braekeleer, Marc

    2010-01-01

    We report twins for whom ultrasound examinations revealed a Turner syndrome in the female fetus and a normal male fetus. A selective pregnancy termination was decided on the female fetus with hydrops. The death of both twins called in question the chorionic diagnosis. Amniotic fluid cytogenetic analysis revealed a 45,X karyotype in the female twin and a 47,XYY karyotype in the male twin. Molecular cytogenetic analysis on genital and renal cells showed different levels of 45,X/47,XYY mosaicism in both twins; molecular analysis on the amniocytes showed monozygosity. Monozygotic twins with discordant sex are very rare. This study showed the difficult diagnosis and management of a monochorionic twin pregnancy with discordant fetal sex.

  11. Risk Factors and Relationship of Cutaneous and Uveal Melanocytic Lesions in Monozygotic and Dizygotic Twin Pairs

    PubMed Central

    Varga, Anita; Szabó, Hajnalka; Orvos, Hajnalka; Kemény, Lajos; Oláh, Judit

    2016-01-01

    Background The similar genetic background of a pair of twins, and the similar environmental impacts to which they are exposed allow an exact and objective investigation of various constitutional and environmental factors in naevus development. As far as we are aware, this is the first published survey that simultaneously examines cutaneous and ocular pigmented lesions in an appreciable sample of identical and non-identical twins. Methods 172 pairs of twins of Caucasian origin were included in this study. A whole-body skin examination and a detailed ophthalmological examination were performed to determine the density of melanocytic lesions. A standardized questionnaire was used to assess the data relating to constitutional, sun exposure and other variables. Results A notably high proportion of the subjects (36.78%) manifested one or more clinically atypical melanocytic naevi (CAMNs), and approximately one-third (31.4%) of them at least one benign uveal pigmented lesion (BUPL). The incidence of iris freckles (IFs), iris naevi (INs) and choroidal naevi (CHNs) proved to be 25.35%, 5.98% and 3.52%, respectively. The interclass correlation coefficients for common melanocytic naevi (CMNs), CAMNs, and INs were 0.77, 0.76 and 0.86 in monozygotic twins, as compared with 0.5, 0.27 and 0.25 in dizygotic twin pairs, respectively. A statistically significant correlation was found between the prevalence of CAMNs and that of INs. Conclusions This significant correlation suggests the existence of a subgroup of Caucasian people with an increased susceptibility to both cutaneous and ocular naevus formation. There is accumulating evidence that, besides the presence of cutaneous atypical naevi, INs can serve as a marker of a predisposed phenotype at risk of uveal melanoma. The correlation between cutaneous and ocular pigmented lesions underlines the need for the adequate ophthalmological screening of subjects with CAMNs and INs. PMID:27486750

  12. Acute hemorrhage in monochorionic twins with ruptured velamentous vessels: anemic twin resuscitated by its co-twin through placental vascular anastomoses?

    PubMed

    Gillissen, A; Sueters, M; van Lith, J M; Walther, F J; Lopriore, E

    2013-01-01

    Monochorionic (MC) twin pregnancies are at increased risk of several complications including acute or chronic twin-twin transfusion syndrome (TTTS) and twin anemia-polycythemia sequence (TAPS). Both TTTS and TAPS result from inter-twin fetofetal transfusion through the placental vascular anastomoses. In addition, MC twin pregnancies are at increased risk of having a velamentous cord insertion, which has been linked with poor perinatal outcome due to risk of rupture of the velamentous vessels. In sporadic cases, these vascular connections may have a positive effect instead of a deleterious effect. We present a case of acute fetal distress in a MC twin pregnancy caused by acute hemorrhage following rupture of velamentous vessels. An emergency cesarean section delivery was performed at 29+2 weeks' gestation. One infant was severely anemic at birth and required immediate treatment with volume expansion and blood transfusion. Acute fetal blood loss through the ruptured vessels led to an acute fetofetal transfusion from the co-twin through the placental vascular anastomoses. Delayed intervention could have resulted in severe hypovolemic shock and acute anemia in both fetuses. Instead, in the current case, placental vascular anastomoses had a transient protective role and allowed transfusion of blood from one co-twin into the circulation of the anemic twin.

  13. Outcome following selective fetal reduction in monochorionic and dichorionic twin pregnancies discordant for structural, chromosomal and genetic disorders.

    PubMed

    Nobili, Elena; Paramasivam, Gowrishankar; Kumar, Sailesh

    2013-04-01

    To investigate the indications for offering selective fetal reduction in monochorionic (MC) and dichorionic (DC) twins and to correlate obstetric outcome with the antenatal procedure. All cases of MC and DC twins discordant for structural anomalies and for chromosomal/genetic abnormalities were included. Selective reductions performed for twin-to-twin transfusion syndrome or growth restriction were excluded. For DC twins, feticide was achieved using intracardiac injection of potassium chloride (KCl). For MC twins, bipolar cord occlusion (BCO), interstitial laser or radiofrequency ablation (RFA) was used. There were 121 twin pregnancies discordant for structural and chromosomal abnormalities. Only 88 (56 were MC twins and 32 were DC twins) had selective reduction. For both MC and DC twins, the leading indication for selective reduction was structural anomalies with CNS malformations the most common. For all MC fetal reduction techniques, the overall pregnancy loss rate (<24 weeks) was 8.9% with RFA having the lowest procedure loss rate (7.7%). The preterm delivery rate was lowest with reduction in DC pregnancies. The live birth rates for MC twins were >87% and 100% for DC twins. Selective reduction in MC pregnancies carries an increased procedure-related and preterm delivery rate compared with DC pregnancies. The main indication for selective reduction was structural malformations, with a predominance of CNS anomalies. © 2013 The Authors ANZJOG © 2013 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  14. Does the sex of one's co-twin affect height and BMI in adulthood? A study of dizygotic adult twins from 31 cohorts.

    PubMed

    Bogl, Leonie H; Jelenkovic, Aline; Vuoksimaa, Eero; Ahrenfeldt, Linda; Pietiläinen, Kirsi H; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Hur, Yoon-Mi; Jeong, Hoe-Uk; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Cutler, Tessa L; Kandler, Christian; Jang, Kerry L; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; Derom, Catherine A; Vlietinck, Robert F; Nelson, Tracy L; Whitfield, Keith E; Corley, Robin P; Huibregtse, Brooke M; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Willemsen, Gonneke; Bartels, Meike; van Beijsterveldt, Toos C E M; Pang, Zengchang; Tan, Qihua; Zhang, Dongfeng; Martin, Nicholas G; Medland, Sarah E; Montgomery, Grant W; Hjelmborg, Jacob V B; Rebato, Esther; Swan, Gary E; Krasnow, Ruth; Busjahn, Andreas; Lichtenstein, Paul; Öncel, Sevgi Y; Aliev, Fazil; Baker, Laura A; Tuvblad, Catherine; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Rijsdijk, Fruhling; Magnusson, Patrik K E; Pedersen, Nancy L; Aslan, Anna K Dahl; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Duncan, Glen E; Buchwald, Dedra; Tarnoki, Adam D; Tarnoki, David L; Yokoyama, Yoshie; Hopper, John L; Loos, Ruth J F; Boomsma, Dorret I; Sørensen, Thorkild I A; Silventoinen, Karri; Kaprio, Jaakko

    2017-01-01

    The comparison of traits in twins from opposite-sex (OS) and same-sex (SS) dizygotic twin pairs is considered a proxy measure of prenatal hormone exposure. To examine possible prenatal hormonal influences on anthropometric traits, we compared mean height, body mass index (BMI), and the prevalence of being overweight or obese between men and women from OS and SS dizygotic twin pairs. The data were derived from the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins) database, and included 68,494 SS and 53,808 OS dizygotic twin individuals above the age of 20 years from 31 twin cohorts representing 19 countries. Zygosity was determined by questionnaires or DNA genotyping depending on the study. Multiple regression and logistic regression models adjusted for cohort, age, and birth year with the twin type as a predictor were carried out to compare height and BMI in twins from OS pairs with those from SS pairs and to calculate the adjusted odds ratios and 95% confidence intervals for being overweight or obese. OS females were, on average, 0.31 cm (95% confidence interval (CI) 0.20, 0.41) taller than SS females. OS males were also, on average, taller than SS males, but this difference was only 0.14 cm (95% CI 0.02, 0.27). Mean BMI and the prevalence of overweight or obesity did not differ between males and females from SS and OS twin pairs. The statistically significant differences between OS and SS twins for height were small and appeared to reflect our large sample size rather than meaningful differences of public health relevance. We found no evidence to support the hypothesis that prenatal hormonal exposure or postnatal socialization (i.e., having grown up with a twin of the opposite sex) has a major impact on height and BMI in adulthood.

  15. Chorioamniotic membrane separation after fetoscopy in monochorionic twin pregnancy: incidence and impact on perinatal outcome.

    PubMed

    Ortiz, J U; Eixarch, E; Peguero, A; Lobmaier, S M; Bennasar, M; Martinez, J M; Gratacós, E

    2016-03-01

    To evaluate the incidence of chorioamniotic membrane separation (CMS) after fetoscopy in monochorionic diamniotic (MCDA) twins and its impact on pregnancy outcome. The study group comprised a consecutive series of 338 women with an MCDA pregnancy complicated by twin-twin transfusion syndrome (TTTS) or selective intrauterine growth restriction (sIUGR) treated with selective laser photocoagulation of communicating vessels (SLPCV) or cord occlusion (CO). Data obtained included cervical length, gestational age at procedure, type and duration of surgery and placental location. The incidence of CMS, the rates of miscarriage and preterm prelabor rupture of membranes (PPROM), gestational age at delivery and neonatal survival were recorded. Of the study population of MCDA pregnancies, 270 (79.9%) had TTTS and 68 (20.1%) had sIUGR. SLPCV was performed in 252 (74.6%) cases and CO in 86 (25.4%). Postoperative CMS was observed in 70 (20.7%) cases. Patients with CMS had higher rates of miscarriage (14.3% vs 7.1%; P = 0.049), PPROM before 32 weeks (43.3% vs 13.7%; P < 0.001) and preterm delivery before 32 weeks (53.3% vs 26.1%; P < 0.001) and a lower rate of neonatal survival of at least one twin (81.7% vs 93.6%; P = 0.003). Multivariate analysis showed that gestational age at surgery was the only independent predictor, with the highest proportion of CMS occurring in cases that underwent surgery before 18 weeks' gestation (odds ratio, 2.941 (95% CI, 1.640-5.275); P < 0.001). There was no influence of cervical length, placental location, duration of surgery or type of surgery on the risk of CMS. CMS complicated one-fifth of all MCDA pregnancies that underwent fetoscopy. It appeared to be more common in those who underwent surgery before 18 weeks' gestation and was associated with poorer outcomes. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

  16. Increased Fetal Plasma Erythropoietin in Monochorionic Twin Pregnancies With Selective Intrauterine Growth Restriction and Abnormal Umbilical Artery Doppler.

    PubMed

    Chang, Yao-Lung; Chao, An-Shine; Peng, Hsiu-Huei; Chang, Shuenn-Dyh; Su, Sheng-Yuan; Chen, Kuan-Ju; Cheng, Po-Jen; Wang, Tzu-Hao

    2016-08-01

    Hypoxia is the primary stimulus for the production of erythropoietin (EPO) in both fetal and adult life. Here, we investigated fetal plasma EPO concentrations in monochorionic (MC) twin pregnancies with selective intrauterine growth restriction (sIUGR) and abnormal umbilical artery (UA) Doppler. We diagnosed sIUGR in presence of (1) birth-weight discordance >20% and (2) either twin with a birth weight <10th percentile. An abnormal UA Doppler was defined as a persistent absent-reverse end diastolic flow (AREDF). The intertwin EPO ratio was calculated as the plasma EPO level of the smaller (or small-for-gestational-age) twin divided by the EPO concentration of the larger (or appropriate-for-gestational-age (AGA)) twin. Thirty-two MC twin pairs were included. Of these, 17 pairs were normal twins (Group 1), seven pairs were twins with sIUGR without UA Doppler abnormalities (Group 2), and eight pairs were twins with sIUGR and UA Doppler abnormalities (Group 3). The highest EPO ratio was identified in Group 3 (p < .001) but no significant differences were observed between Groups 1 and 2. Fetal hemoglobin levels did not differ significantly in the three groups, and fetal EPO concentration did not correlate with gestational age at birth. We conclude that fetal plasma EPO concentrations are selectively increased in MC twin pregnancies with sIUGR and abnormal UA Doppler, possibly as a result of uncompensated hypoxia.

  17. Impact of Monochorionicity and Twin to Twin Transfusion Syndrome on Prenatal Attachment, Post Traumatic Stress Disorder, Anxiety and Depressive Symptoms

    PubMed Central

    Carrier, Aude; Bussières, Laurence; Golse, Bernard; Ville, Yves

    2016-01-01

    Monochronioric (MC) twin pregnancies are considered as high-risk pregnancies with potential complications requiring in-utero interventions. We aimed to assess prenatal attachment, anxiety, post-traumatic stress disorder (PTSD) and depressive symptoms in MC pregnancies complicated with Twin-To-Twin-transfusion syndrome (TTTS) in comparison to uncomplicated monochorionic (UMC) and dichorionic pregnancies (DC). Auto-questionnaires were filled out at diagnosis of TTTS and at successive milestones. Prenatal attachment, PTSD, anxiety and perinatal depression were evaluated respectively by the Prenatal Attachment Inventory (PAI) completed for each twin, the Post-traumatic Checklist Scale (PCLS), the State-Trait Anxiety Inventory (STAI) and the Edinburgh Perinatal Depression Scale (EPDS). There was no significant difference in the PAI scores between the two twins. In the DC and UMC groups, PAI scores increased throughout pregnancy, whilst it didn’t for TTTS group. TTTS and DC had a similar prenatal attachment while MC mothers expressed a significantly higher attachment to their fetuses and expressed it earlier. At the announcement of TTTS, 72% of the patients present a score over the threshold at the EPDS Scale, with a higher score for TTTS than for DC (p = 0.005), and UMC (p = 0.007) at the same GA. 30% of mothers in TTTS group have PTSD during pregnancy. 50% of TTTS- patients present an anxiety score over the threshold (STAI-Scale), with a score significantly higher in TTTS than in UMC (p<0.001) or DC (p<0.001). The proportion of subject with a STAI–State over the threshold is also significantly higher in TTTS than in DC at 20 GW (p = 0.01) and at 26 GW (p<0.05). The STAI-state scores in UMC and DC increase progressively during pregnancy while they decrease significantly in TTTS. TTTS announcement constitutes a traumatic event during a pregnancy with an important risk of PTSD, high level of anxiety and an alteration of the prenatal attachment. These results should

  18. Impact of Monochorionicity and Twin to Twin Transfusion Syndrome on Prenatal Attachment, Post Traumatic Stress Disorder, Anxiety and Depressive Symptoms.

    PubMed

    Beauquier-Maccotta, Berengere; Chalouhi, Gihad E; Picquet, Anne-Laure; Carrier, Aude; Bussières, Laurence; Golse, Bernard; Ville, Yves

    2016-01-01

    Monochronioric (MC) twin pregnancies are considered as high-risk pregnancies with potential complications requiring in-utero interventions. We aimed to assess prenatal attachment, anxiety, post-traumatic stress disorder (PTSD) and depressive symptoms in MC pregnancies complicated with Twin-To-Twin-transfusion syndrome (TTTS) in comparison to uncomplicated monochorionic (UMC) and dichorionic pregnancies (DC). Auto-questionnaires were filled out at diagnosis of TTTS and at successive milestones. Prenatal attachment, PTSD, anxiety and perinatal depression were evaluated respectively by the Prenatal Attachment Inventory (PAI) completed for each twin, the Post-traumatic Checklist Scale (PCLS), the State-Trait Anxiety Inventory (STAI) and the Edinburgh Perinatal Depression Scale (EPDS). There was no significant difference in the PAI scores between the two twins. In the DC and UMC groups, PAI scores increased throughout pregnancy, whilst it didn't for TTTS group. TTTS and DC had a similar prenatal attachment while MC mothers expressed a significantly higher attachment to their fetuses and expressed it earlier. At the announcement of TTTS, 72% of the patients present a score over the threshold at the EPDS Scale, with a higher score for TTTS than for DC (p = 0.005), and UMC (p = 0.007) at the same GA. 30% of mothers in TTTS group have PTSD during pregnancy. 50% of TTTS- patients present an anxiety score over the threshold (STAI-Scale), with a score significantly higher in TTTS than in UMC (p<0.001) or DC (p<0.001). The proportion of subject with a STAI-State over the threshold is also significantly higher in TTTS than in DC at 20 GW (p = 0.01) and at 26 GW (p<0.05). The STAI-state scores in UMC and DC increase progressively during pregnancy while they decrease significantly in TTTS. TTTS announcement constitutes a traumatic event during a pregnancy with an important risk of PTSD, high level of anxiety and an alteration of the prenatal attachment. These results should guide

  19. Population based study of prevalence of islet cell autoantibodies in monozygotic and dizygotic Danish twin pairs with insulin dependent diabetes mellitus.

    PubMed Central

    Petersen, J. S.; Kyvik, K. O.; Bingley, P. J.; Gale, E. A.; Green, A.; Dyrberg, T.; Beck-Nielsen, H.

    1997-01-01

    OBJECTIVE: To study the comparative importance of environment and genes in the development of islet cell autoimmunity associated with insulin dependent diabetes mellitus. DESIGN: Population based study of diabetic twins. SETTING: Danish population. SUBJECTS: 18 monozygotic and 36 dizygotic twin pairs with one or both partners having insulin dependent diabetes. MAIN OUTCOME MEASURES: Presence of islet cell antibodies, insulin autoantibodies, and autoantibodies to glutamic acid decarboxylase (GAD65) in serum samples from twin pairs 10 years (range 0-30 years) and 9.5 years (2-30 years) after onset of disease. RESULTS: In those with diabetes the prevalence of islet cell antibodies, insulin autoantibodies, and autoantibodies to glutamic acid decarboxylase in the 26 monozygotic twins was 38%, 85%, and 92%, respectively, and in the dizygotic twins was 57%, 70%, and 57%, respectively. In those without diabetes the proportions were 20%, 50%, and 40% in the 10 monozygotic twins and 26%, 49%, and 40% in the 35 dizygotic twins. CONCLUSION: There is no difference between the prevalence of islet cell autoantibodies in dizygotic and monozygotic twins without diabetes, suggesting that islet cell autoimmunity is environmentally rather than genetically determined. Furthermore, the prevalence of islet cell antibodies was higher in the non-diabetic twins than in other first degree relatives of patients with insulin dependent diabetes. This implies that the prenatal or early postnatal period during which twins are exposed to the same environment, in contrast with that experienced by first degree relatives, is of aetiological importance. PMID:9169400

  20. Bacterial colonization, enamel defects and dental caries in 4-6-year-old mono- and dizygotic twins.

    PubMed

    Ooi, Gregory; Townsend, Grant; Seow, W Kim

    2014-03-01

    Knowledge of the genetic and environmental influences in caries aetiology has relevance for preventive dentistry. This classical twin study compared concordance of mutans streptococci (MS) and lactobacilli (LB) colonization, enamel defects, and caries in a cohort of 4-6-year-old mono- (MZ) and dizygotic (DZ) twin pairs. The twins were examined for prevalence and concordance of enamel opacities and hypoplasia, oral counts of MS and LB, and dental caries. Bacterial counts were assessed using a commercial microbiological kit. Thirty-four MZ and 50 DZ twins (mean gestational age 35.0 ± 2.4 weeks, and birthweight 2.4 ± 0.6 kg) were examined. There were no statistically significant differences between MZ and DZ twins in the prevalence of MS, LB, and enamel hypoplasia. Concordance rates for MS and LB presence and prevalence of enamel defects within MZ and DZ twin pairs were not significantly different. There were more children with caries in DZ compared with MZ twins (18% vs 3%, P = 0.0029), most likely due to increased daily frequency of sugar consumption and less toothbrushing. Concordance data from MZ and DZ twins did not demonstrate any statistically significant difference in susceptibility for enamel defects and colonization of MS and LB. © 2013 BSPD, IAPD and John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. Placenta share discordance and umbilical artery Doppler change after antenatal betamethasone administration in monochorionic twins with selective intrauterine growth restriction: is there a link?

    PubMed

    Chang, Yao-Lung; Chang, Shuenn-Dyh; Chao, An-Shine; Hsieh, Peter C C; Wang, Chao-Nin; Wang, Tzu-Hao

    2012-10-01

    This study was designed to evaluate the degree of placenta share discordance in relation to the betamethasone-induced return of positive end-diastolic flow in monochorionic twin pregnancies with selective intrauterine growth restriction (sIUGR) and abnormal umbilical artery Doppler. Monochorionic twins with sIUGR was defined as one twin having an estimated fetal weight below the 10th percentile combined with an estimated fetal weight discordance >25%. The umbilical artery Doppler directly prior to (D0) and 24 hours (D1) and 48 hours (D2) after the first dose of betamethasone administration was recorded. The estimated individual placental weight in monochorionic twins was obtained by cutting the placenta along the vascular equator into two territories; the placenta share discordance was calculated as [(estimated individual placental weight of appropriated for gestational age twin- estimated individual placental weight of growth restricted twin)/estimated individual placental weight of appropriated for gestational age twin] × 100%. Six (23.1%) of the 26 included cases achieved betamethasone-induced return of positive umbilical artery end-diastolic flow. The difference of placenta share discordance and birth weight discordance were not significantly different between twins with and without betamethasone-induced return of positive umbilical artery end-diastolic flow. Thus, according to our study results, it was proposed that although the placenta share discordance correlated with the abnormal umbilical artery Doppler in the IUGR fetus in monochorionic twin, the betamethasone-induced return of positive umbilical artery end-diastolic flow, however, did not reveal the similar relationship with the severity of placenta share discordance.

  2. Cord blood level of insulin-like growth factor-1 and IGF binding protein-3 in monochorionic twins.

    PubMed

    Teng, Ru-Jeng; Wu, Tzong-Jin; Hsieh, Fon-Jou

    2015-04-01

    Insulin-like growth factors (IGFs) and their binding proteins (IGFBPs) are known to modulate fetal growth but their role in intrauterine growth of monochorionic twins (MCT) has not been studied. Cord venous blood was collected directly after birth. IGF-1 and IGFBP-3 in the cord venous blood were quantified by radioimmunoassay. Birth weights (BWs) were obtained electronically. Placentas were examined for chorionicity. Cord blood was collected in 37 pairs of MCT (15 pairs were males). BWs ranged from 564 to 3240 g, and gestational ages (GAs) were between 24 weeks and 39 weeks. There was a correlation between BW and cord venous blood IGFBP-3 concentration (r = 0.28, p = 0.015), but not between BW and cord venous blood IGF-1 level. There was no difference in IGF-1 between the heavier twins (30.8 ± 61.8 ng/mL) and lighter twins (33.2 ± 63.7 ng/mL), but a trend (p = 0.096) of higher IGFBP-3 level was demonstrated in heavier twins (3.14 ± 1.23 μg/mL) than in lighter twins (2.71 ± 1.19 μg/mL). The IGFBP-3 levels were higher (p = 0.042) in female twins (3.20 ± 1.33 μg/mL) than in male twins (2.64 ± 1.04 μg/mL). The IGF-1 level of the heavier twins correlated significantly to their lighter co-twin (r = 0.73, p < 0.001). Our data showed that cord venous blood IGF-1 level might be controlled mainly by genetic factors. IGFBP-3 might play an important role in fetal growth. Copyright © 2013. Published by Elsevier B.V.

  3. Ultrasonic identification of pump twin by dual-gate Doppler in a monochorionic-triamniotic triplet twin reversed arterial perfusion sequence before preventative radiofrequency ablation: a case report.

    PubMed

    Takahashi, Yuichiro; Iwagaki, Shigenori; Chiaki, Rika; Asai, Kazuhiko; Matsui, Masako; Kawabata, Ichiro

    2017-05-09

    We performed a dual-gate Doppler examination for a twin reversed arterial perfusion (TRAP) sequence in a monochorionic-triamniotic triplet pregnancy at 16 weeks of gestation and were able to identify the pump twin by arterial pulse rate synchronicity. We performed radiofrequency ablation to coagulate blood flow in the acardius at 16 weeks of gestation without any postoperative complication. At 29 weeks of gestation, we performed a cesarean section due to preterm rupture of the membranes and the patient delivered 1167/1237-g female neonates and a macerated acardius. Examination of the placenta revealed two thickened vessels from the pump twin to the acardius, which had been prenatally identified by dual-gate Doppler. This new technology launches the new field of noninvasive fetal identification for triplet TRAP sequence.

  4. Toward automatic phenotyping of retinal images from genetically determined mono- and dizygotic twins using amplitude modulation-frequency modulation methods

    NASA Astrophysics Data System (ADS)

    Soliz, P.; Davis, B.; Murray, V.; Pattichis, M.; Barriga, S.; Russell, S.

    2010-03-01

    This paper presents an image processing technique for automatically categorize age-related macular degeneration (AMD) phenotypes from retinal images. Ultimately, an automated approach will be much more precise and consistent in phenotyping of retinal diseases, such as AMD. We have applied the automated phenotyping to retina images from a cohort of mono- and dizygotic twins. The application of this technology will allow one to perform more quantitative studies that will lead to a better understanding of the genetic and environmental factors associated with diseases such as AMD. A method for classifying retinal images based on features derived from the application of amplitude-modulation frequency-modulation (AM-FM) methods is presented. Retinal images from identical and fraternal twins who presented with AMD were processed to determine whether AM-FM could be used to differentiate between the two types of twins. Results of the automatic classifier agreed with the findings of other researchers in explaining the variation of the disease between the related twins. AM-FM features classified 72% of the twins correctly. Visual grading found that genetics could explain between 46% and 71% of the variance.

  5. Ductus venosus in the first trimester: contribution to screening of chromosomal, cardiac defects and monochorionic twin complications.

    PubMed

    Maiz, Nerea; Nicolaides, Kypros H

    2010-01-01

    In the first trimester the ductus venosus can be easily identified with color Doppler and a ductus venosus waveform can be obtained by pulsed Doppler. At 11-13 weeks the prevalence of abnormal a-wave in the ductus venosus is inversely related to fetal crown-rump length and maternal serum pregnancy-associated plasma protein-A (PAPP-A), increases with fetal nuchal translucency (NT) thickness and is more common in women of Black racial origin and in fetuses with abnormal karyotype or cardiac defects. Ductus venosus flow provides an independent contribution in the prediction of chromosomal abnormalities when combined with NT and the maternal serum markers of PAPP-A and free beta-hCG, increasing the detection rate to 96% at a false-positive rate of 2.6%. Abnormal ductus venosus flow increases the risk of cardiac defects in fetuses with NT above the 95th centile, and it may increase the risk in fetuses with normal NT. In twin pregnancies, abnormal ductus venosus flow is associated with chromosomal abnormalities and cardiac defects. In monochorionic twins, abnormal flow in the ductus venosus in at least 1 of the fetuses increases the risk of developing twin-to-twin transfusion syndrome.

  6. Preliminary report of altered insulin secretion pattern in monochorionic twin pregnancies complicated with selective intrauterine growth restriction.

    PubMed

    Chang, Yao-Lung; Wang, Tzu-Hao; Abufraijeh, Seham M; Chang, Shuenn-Dyh; Chao, An-Shine; Hsieh, Peter C C

    2017-02-01

    Fetuses with intrauterine growth restriction (IUGR) have adaptive hormonal changes including changes in insulin, which may increase their future risks for developing diabetes mellitus. This study compared cord blood insulin concentrations in IUGR and appropriate for gestational age (AGA) fetuses in a monochorionic (MC) twin model. Ten pairs were classified as selective IUGR (sIUGR) based on having one twin weight below the 10th percentile and with an intertwin birth weight discordance>20%. Fourteen pairs without IUGR were included as a comparison group. Pregnancies with twin-twin transfusion syndrome, congenital structural malformations, and genetic abnormalities were excluded. Insulin and glucose concentrations were measured in cord venous blood at the time of delivery. Cord blood insulin concentrations of sIUGR fetuses were significantly lower than those of AGA counterpart fetuses in MC twins affected by sIUGR (5.1±4.1 mU/L, range: 0.7-9.9 mU/L for sIUGR fetuses and 12.2±7.6 mU/L, range: 3.5-23.7 mU/L for AGA fetuses, p=0.019). No significant difference in insulin concentrations between larger and smaller fetuses in MC twins without IUGR was observed. Insulin concentration was inversely correlated with gestational age of delivery in all fetuses except in those with sIUGR. We did not find any difference in cord blood glucose concentrations between the two fetuses in both groups. Our data show reduced insulin secretion and loss of the physiological decline in concentration over time as gestational age increases in fetuses with sIUGR compared to AGA counterparts. Copyright © 2017 Taiwan Association of Obstetrics & Gynecology. Published by Elsevier B.V. All rights reserved.

  7. Genetic and Environmental Influences on Regional Brain Uptake of 18F-FDG: A PET Study on Monozygotic and Dizygotic Twins.

    PubMed

    Watanabe, Shinichiro; Kato, Hiroki; Shimosegawa, Eku; Hatazawa, Jun

    2016-03-01

    Genetic or environmental influences on cerebral glucose metabolism are unknown. We attempted to reveal these influences in elderly twins by means of (18)F-FDG PET. (18)F-FDG uptake was studied in 40 monozygotic and 18 dizygotic volunteer twin pairs aged 30 y or over. We also created 18 control pairs by pairing age- and sex-matched genetically unrelated subjects from dizygotic and monozygotic pairs. SUV images of the brain were reconstructed and analyzed by voxel-based statistical analysis with automated region-of-interest setting. The (18)F-FDG uptake in each cerebral lobe was semiquantified by taking a ratio of SUVmean in each region of interest to whole-brain SUVaverage. We calculated an intraclass correlation coefficient of SUV ratio in each region of interest for monozygotic and dizygotic pairs. By comparing differences in coefficients between monozygotic and dizygotic pairs, genetic and environmental contributions were estimated. The intraclass correlation coefficient in monozygotic pairs was significantly higher than that in dizygotic pairs in the parietal lobes bilaterally (P < 0.001) and in the left temporal lobe (P < 0.05) but was not significantly different in other lobes. The present study indicated that in the right and left parietal lobes and left temporal lobe, cerebral glucose metabolism is influenced more by genetics than by environment, whereas in other brain regions the influence of environment is dominant. © 2016 by the Society of Nuclear Medicine and Molecular Imaging, Inc.

  8. Clinical outcome and placental characteristics of monochorionic diamniotic twin pairs with early- and late-onset discordant growth.

    PubMed

    Lewi, Liesbeth; Gucciardo, Leonardo; Huber, Agnes; Jani, Jacques; Van Mieghem, Tim; Doné, Elisa; Cannie, Mieke; Gratacós, Eduardo; Diemert, Anke; Hecher, Kurt; Lewi, Paul; Deprest, Jan

    2008-11-01

    The purpose of this study was to examine the clinical and placental characteristics of monochorionic diamniotic twin pregnancies with early-onset discordant growth diagnosed at 20 weeks, late-onset discordant growth diagnosed at 26 weeks or later, and concordant growth. We studied a prospective cohort that underwent an ultrasound scan in the first trimester, at 16, 20, and 26 weeks. We excluded pregnancies complicated by twin-to-twin transfusion syndrome, miscarriage, fetal death less than 16 weeks, or severe congenital anomalies. Placental sharing and angioarchitecture were assessed by injection of each cord vessel with dyed barium sulphate. The 2 territories were delineated on an X-ray angiogram. The diameter of each intertwin anastomosis was measured on a digital photograph. We included 178 twin pairs. Early onset discordant growth, late-onset discordant growth, and concordant growth occurred in 15, 13, and 150 pregnancies, respectively. Twin pairs with early-onset discordant growth had lower survival rates and were delivered at an earlier gestational age than pairs with late-onset discordant and concordant growth. The degree of birthweight discordance was similar in early- and late-onset discordant growth. Severe intertwin hemoglobin differences at the time of birth occurred in 0%, 38%, and 3% of pairs with early-onset discordant growth, late-onset discordant growth, and concordant growth, respectively. The placentas of pairs with early-onset discordant growth were more unequally shared and had larger arterioarterial anastomoses and a larger total anastomotic diameter as compared with placentas of pairs with late onset-discordant or concordant growth. Unequal placental sharing appears to be involved in the etiology of early-onset discordant growth, whereas a late intertwin transfusion imbalance may be involved in some cases with late-onset discordant growth.

  9. Causes of delivery and outcomes of very preterm twins stratified to zygosity.

    PubMed

    Spiegler, Juliane; Härtel, Christoph; Schulz, Lena; von Wurmb-Schwark, Nicole; Hoehn, Thomas; Kribs, Angela; Küster, Helmut; Siegel, Jens; Wieg, Christian; Weichert, Jan; Herting, Egbert; Göpel, Wolfgang

    2012-08-01

    The increasing rates of preterm birth among twins implicate that solid data on associated risks and outcomes are required. Assessment of zygosity is often based on clinical criteria (evaluation of placenta; same gender, birth weight discordance as surrogate criteria for monochorionic/monozygotic twins). The aim of this study was to compare clinical versus genetic assessment of zygosity and to compare causes of preterm delivery as well as outcome data of very-low-birth-weight (VLBW; birth weight <1,500 g) twins stratified to zygosity. In a multicenter study, we selected n=176 sets of same gender twins and determined zygosity genetically. In a subgroup of 123 sets of twins, the attending physicians at the study centers were asked to document the parameter 'zygosity' (monozygotic/dizygotic) on the basis of their clinical judgment. Concordance between genetic and clinical assessment was 62.7% for monozygotic twins and 88.9% for dizygotic twins, respectively. Outcome parameters (death, BPD, ROP, NEC, IVH) were comparable in both groups. Genetically dizygotic twins were significantly more often born due to intrauterine infection (33% vs. 20% in monozygotic twins, p<.01) and antenatal antibiotics were more frequently given to mothers of dizygotic twins (62% vs. 47% in monozygotic twins, p<.01). Obstetric complications such as twin-twin-transfusion-syndrome were only seen in monozygotic twins as expected. The unexpected increase of antenatal antibiotic treatment and birth due to intrauterine infection in dizygotic twins should be confirmed in additional VLBW twin-cohorts.

  10. [A case of a dizygotic twin pregnancy where superfetation seems indisputable].

    PubMed

    Bourgoin, P; Marc, J; Merger, C; Delatte, J N

    1995-01-01

    A case of superfoetation is presented. Difference of age (3 weeks) between twins was established by ultrasound at 10 weeks, and persisted through subsequent echographic surveillance up to delivery at 39 of amenorrhea with twin 39 and 36 weeks old. Only three publications in recent international literature are related to superfoetation. An attempt is made to try to understand superfoetation and to clearly differentiate it from superovulation.

  11. The Effect of Polyhydramnios on Cervical Length in Twins: A Controlled Intervention Study in Complicated Monochorionic Pregnancies

    PubMed Central

    Engineer, Neelam; O'Donoghue, Keelin; Wimalasundera, Ruwan C.; Fisk, Nicholas M.

    2008-01-01

    Objective To test the hypothesis that cervical shortening in polyhydramnios reflects the degree of excess amniotic fluid, and increases with normalisation of amniotic fluid volume. Study Design Prospective cohort study of 40 women with monochorionic twins undergoing interventional procedures between 16–26 weeks. Cervical length was assessed via transvaginal sonography pre-procedure, 1 and 24 hours post-procedure, and results compared between amnioreduction and control procedures. Amniotic fluid index (AFI) was measured pre- and post-procedure. Results Pre-procedural cervical length correlated with AFI (linear fit = 5.07 -0.04x, R2 = 0.17, P = 0.03) in patients with polyhydramnios (n = 28). Drainage of 2000ml fluid (range 700–3500ml), reduced AFI from 42cm to 21cm (P<0.001). Their pre-procedural cervical length did not change at one (mean Δ:−0.1cm, 95%CI, −0.4 to 0.2) or 24 hours (0.2cm, −0.1 to 0.6) after amnioreduction. There was no change in cervical length at control procedures. Conclusion Cervical shortening in twins with polyhydramnios does not appear to be an acute process; cervical length can be measured before or after therapeutic procedures. PMID:19048106

  12. Fetal fraction estimate in twin pregnancies using directed cell-free DNA analysis.

    PubMed

    Struble, Craig A; Syngelaki, Argyro; Oliphant, Arnold; Song, Ken; Nicolaides, Kypros H

    2014-01-01

    To estimate fetal fraction (FF) in monozygotic and dizygotic twin pregnancies. Maternal plasma samples were obtained from 35 monochorionic twin pregnancies with male fetuses (monozygotic) and 35 dichorionic pregnancies discordant for fetal sex (dizygotic) at 11-13 weeks' gestation. Cell-free DNA was extracted and chromosome-selective sequencing with digital analysis of selected regions (DANSR™) was carried out. The fetal-fraction optimized risk of trisomy evaluation (FORTE™) algorithm was used to estimate FF using polymorphic alleles. In dizygotic twins the FORTE algorithm was modified to estimate the smallest FF contribution of the 2 fetuses. In both types of twins, FF was also determined by analysis of Y-chromosome sequences. In monozygotic twins, the median total FF was 14.0% (range 8.2-27.0%) and in dizygotic twins the median smallest FF was 7.9% (4.9-14.0%). There were significant associations in FF between the methods using polymorphic alleles and Y-chromosome sequences for both monozygotic (r=0.951, p<0.0001) and dizygotic (r=0.743, p<0.0001) twins. The study demonstrates the feasibility of an approach for cfDNA testing in twin pregnancies. This involves estimation of total FF in monozygotic twins and estimation of the lower FF of the 2 fetuses in dizygotic twins. © 2013 S. Karger AG, Basel.

  13. A case of a surviving co-twin diagnosed with porencephaly and renal hypoplasia after a single intrauterine fetal death at 21 weeks of gestation in a monochorionic monoamniotic twin pregnancy.

    PubMed

    Machino, Hidenori; Iriyama, Takayuki; Nakayama, Toshio; Komatsu, Atsushi; Nagamatsu, Takeshi; Osuga, Yutaka; Fujii, Tomoyuki

    2017-01-01

    Monochorionic monoamniotic (MM) twin pregnancy carries a high risk of intrauterine fetal death (IUFD). Single IUFD in an MM twin pregnancy prior to 22 weeks of gestation has been reported to be strongly correlated with double twin demise. To our knowledge, there are no case reports on the natural course of a surviving co-twin in an MM twin pregnancy resulting in live birth after a single IUFD prior to 22 weeks of gestation. Here, we report a case of a surviving co-twin, after a single IUFD at 21 weeks of gestation in a MM twin pregnancy, with an antenatal diagnosis of renal hypoplasia and severe neurological damage leading to porencephaly, and live birth at 36 weeks of gestation.

  14. A case of a surviving co-twin diagnosed with porencephaly and renal hypoplasia after a single intrauterine fetal death at 21 weeks of gestation in a monochorionic monoamniotic twin pregnancy

    PubMed Central

    Machino, Hidenori; Iriyama, Takayuki; Nakayama, Toshio; Komatsu, Atsushi; Nagamatsu, Takeshi; Osuga, Yutaka; Fujii, Tomoyuki

    2017-01-01

    Monochorionic monoamniotic (MM) twin pregnancy carries a high risk of intrauterine fetal death (IUFD). Single IUFD in an MM twin pregnancy prior to 22 weeks of gestation has been reported to be strongly correlated with double twin demise. To our knowledge, there are no case reports on the natural course of a surviving co-twin in an MM twin pregnancy resulting in live birth after a single IUFD prior to 22 weeks of gestation. Here, we report a case of a surviving co-twin, after a single IUFD at 21 weeks of gestation in a MM twin pregnancy, with an antenatal diagnosis of renal hypoplasia and severe neurological damage leading to porencephaly, and live birth at 36 weeks of gestation. PMID:28116109

  15. Antenatal detection of Meckel-Grüber syndrome in only one dizygotic twin following in vitro fertilization and embryo transfer.

    PubMed

    Shozu, M; Akimoto, K; Tanaka, J; Sonoda, Y; Inoue, M; Michikura, Y

    1997-01-01

    The first case of Meckel-Grüber syndrome in a dizygotic twin pregnancy following in vitro fertilization and embryo transfer is reported. An ultrasound examination at 26 weeks of gestation revealed multiple malformations of the presenting twin: the combination of an occipital encephalomeningocele, bilateral polycystic kidneys and postaxial polydactyly was suggestive of Meckel-Grüber syndrome. Diagnosis was confirmed after birth. The importance of this case is stressed since particular care must be taken to avoid multiple pregnancies in couples at risk undergoing assisted reproduction.

  16. [Heterotopic pregnancy with intrauterine dizygotic twins following embryo transfer in the blastocyst phase].

    PubMed

    Barrón Vallejo, J; Ortega Díaz, R; Kably Ambe, A

    1999-04-01

    Ectopic pregnancy is a common complication of in vitro fertilization and embryo transfer (IVF-ET). On other hand, heterotopic pregnancy complicates 1-2% of all IVF-ET pregnancies. Tubal damage as reason for treatment and multiple embryo transfer might predispose patients to this complication. We present a successful treated case of an infertile patient that developed simultaneous twin intra- and single extra- uterine pregnancy after blastocyst-stage embryo transfer. In IVF-ET patients presence of an intrauterine gestation not exclude the possibility of a concomitant extrauterine pregnancy. Awareness of the possibility of heterotopic pregnancy after IVF-ET plays an important role in the successful treatment of this reproductive complication. Transfer of good quality embryos can be a risk factor to develop heterotopic pregnancy.

  17. Twin-to-twin transfusion syndrome type III--case report of an intrauterine death in monochorionic pregnancy.

    PubMed

    Biskup, I; Malinowski, W

    1995-01-01

    The acute form of twin-to-twin transfusion syndrome is caused by rapid transfer of blood from one of the twins to another via placental anastomoses. Usually, this only occurs during the second stage of labour as a result of a sudden relative rise of blood pressure in one of the fetal circulations. This can result in the sudden intrauterine death of a fetus (or both, as in our case). Currently, there is no reliable means of identifying such an at-risk pregnancy by means of ultrasound antenatally. We would classify this as TTTS Type III.

  18. Sensory motor and functional skills of dizygotic twins: one with Smith-Magenis syndrome and a twin control.

    PubMed

    Smith, Michaele R; Hildenbrand, Hanna; Smith, Ann C M

    2009-01-01

    Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors. Physical and occupational therapists provide services for children who have the syndrome, whose genetic disorder is frequently not identified or diagnosed before 1 year of age. A comprehensive physical and occupational therapy evaluation was completed in nonidentical twins with one having SMS, using the Sensory Profile; Brief Assessment of Motor Function (BAMF); Peabody Developmental Motor Scales, Second Edition (PDMS-2); and Pediatric Evaluation of Disability Inventory (PEDI). This provides a framework for conducting assessments to enhance early detection and interdisciplinary management with this specialized population.

  19. Effective treatment of cervical incompetence in a monochorionic monoamniotic twin pregnancy with a rescue cervical cerclage and pessary--a case report and review of literature.

    PubMed

    Kosińska-Kaczyńska, Katarzyna; Szymusik, Iwona; Bomba-Opoń, Dorota; Brawura-Biskupski-Samaha, Robert; Wegrzyn, Piotr; Wielgoś, Mirosław

    2012-12-01

    A monochorionic monoamniotic (MCMA) twin pregnancy is the rarest form of twin gestation, accounting for around 1:10000 to 1:20000 of all deliveries regardless of the region of the world. All multiple gestations have a higher risk of preterm delivery due to either preterm uterine contractions or asymptomatic cervical shortening (cervical incompetence). A case of a 28-year-old primigravida in MCMA twin pregnancy with cervical incompetence diagnosed at 22 weeks of gestation is presented. After obtaining cervical swabs, negative laboratory infection parameters and confirming concordant gestational age on ultrasound scan with no structural abnormalities of both fetuses, the patient was qualified for an emergency cervical cerclage according to Wurm-Hefner method. Five days after the procedure, a cervical pessary was additionally inserted. She was administered antibiotics and steroids. The wellbeing of both fetuses was strictly monitored by means of cardiotocography tracing and ultrasound examinations, on which they were both eutrophic, with no abnormalities in Doppler blood flow patterns. Spontaneous premature rupture of membranes took place at 32 weeks of gestation, a cesarean section was performed and two female fetuses of 1740 g and 1760 g were delivered. They both required antibiotics because of congenital pneumonia, but no respiratory support was necessary The twins were discharged from the hospital 22 days after birth in good general condition. This case of a rescue cervical cerclage and pessary used simultaneously can be an example of an effective method of cervical incompetence treatment in twin pregnancies.

  20. The Contribution of Prenatal Stress to the Pathogenesis of Autism as a Neurobiological Developmental Disorder: A Dizygotic Twin Study

    ERIC Educational Resources Information Center

    Claassen, M.; Naude, H.; Pretorius, E.; Bosman, M. C.

    2008-01-01

    This paper reports on the contribution of prenatal stress to the pathogenesis of autism as a neurobiological developmental disorder in a dizygotic study. The aim was to explore whether the neurobiological impact of stress prior to week 28 of gestation might be related to the pathogenesis of autism. The following data-generating strategies were…

  1. The Contribution of Prenatal Stress to the Pathogenesis of Autism as a Neurobiological Developmental Disorder: A Dizygotic Twin Study

    ERIC Educational Resources Information Center

    Claassen, M.; Naude, H.; Pretorius, E.; Bosman, M. C.

    2008-01-01

    This paper reports on the contribution of prenatal stress to the pathogenesis of autism as a neurobiological developmental disorder in a dizygotic study. The aim was to explore whether the neurobiological impact of stress prior to week 28 of gestation might be related to the pathogenesis of autism. The following data-generating strategies were…

  2. Diagnosis of umbilical cord entanglement in a monochorionic diamniotic twin pregnancy with spontaneous septostomy of the dividing membranes using dual-gate Doppler imaging.

    PubMed

    Ito, Ayumu; Nakata, Masahiko; Oji, Ayako; Takano, Mayumi; Umemura, Nahomi; Nagasaki, Sumito; Maemura, Toshimitsu; Morita, Mineto

    2017-05-08

    Umbilical cord entanglement is the leading cause of fetal mortality in monoamniotic twin pregnancies and a pseudo monoamniotic environment. Published methods for detecting this complication include color Doppler and pulsed Doppler sonography; however, no method provides an absolute diagnosis. In this case, we report the diagnosis of umbilical cord entanglement using dual-gate Doppler imaging. A 35-year-old woman was referred to our hospital at 28 weeks of gestation for prenatal management because of diagnosis of a monochorionic diamniotic twin pregnancy with spontaneous septostomy of the dividing membranes. Each fetus displayed normal fetal growth without obvious discordance and anatomical abnormalities. However, the dividing membrane was not detected, and an entangled cord was suspected. Dual-gate Doppler examination was carried out. Two regions of interest were considered at different areas of the umbilical arteries, and when each Doppler image showed two different heart rates at the same time, we considered this to be evidence of umbilical cord entanglement. Cesarean section was performed at 32 weeks of gestation and twins were delivered. The delivered umbilical cords had sixfold entanglement. In this case, dual-gate Doppler seems to have been more accurate than conventional single-gate Doppler for the diagnosis of cord entanglement because we confirmed two different heart rates at the same time with dual-gate Doppler.

  3. Evidence that BMI and type 2 diabetes share only a minor fraction of genetic variance: a follow-up study of 23,585 monozygotic and dizygotic twins from the Finnish Twin Cohort Study.

    PubMed

    Lehtovirta, M; Pietiläinen, K H; Levälahti, E; Heikkilä, K; Groop, L; Silventoinen, K; Koskenvuo, M; Kaprio, J

    2010-07-01

    We investigated whether BMI predicts type 2 diabetes in twins and to what extent that is explained by common genetic factors. This was a population-based twin cohort study. Monozygotic (n = 4,076) and dizygotic (n = 9,109) non-diabetic twin pairs born before 1958 answered a questionnaire in 1975, from which BMI was obtained. Information on incident cases of diabetes was obtained by linkage to nationwide registers until 2005. Altogether, 1,332 twins (6.3% of men, 5.1% of women) developed type 2 diabetes. The HR for type 2 diabetes increased monotonically with a mean of 1.22 (95% CI 1.20-1.24) per BMI unit and of 1.97 (95% CI 1.87-2.08) per SD of BMI. The HRs for lean, overweight, obese and morbidly obese participants were 0.59, 2.96, 6.80 and 13.64 as compared with normal weight participants. Model heritability estimates for bivariate variance due to an additive genetic component and non-shared environmental component were 75% (men) and 71% (women) for BMI, and 73% and 64%, respectively for type 2 diabetes. The correlations between genetic variance components (r (g)) indicated that one fifth of the covariance of BMI and type 2 diabetes was due to shared genetic influences. Although the mean monozygotic concordance for type 2 diabetes was approximately twice the dizygotic one, age of onset of diabetes within twin pair members varied greatly, irrespective of zygosity. A 28-year follow-up of adult Finnish twins showed that despite high trait heritability estimates, only a fraction of covariation in BMI and incident type 2 diabetes was of genetic origin.

  4. Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins.

    PubMed

    Sperling, L; Kiil, C; Larsen, L U; Brocks, V; Wojdemann, K R; Qvist, I; Schwartz, M; Jørgensen, C; Espersen, G; Skajaa, K; Bang, J; Tabor, A

    2007-05-01

    To evaluate the outcome of screening for structural malformations in twins and the outcome of screening for twin-twin transfusion syndrome (TTTS) among monochorionic twins through a number of ultrasound scans from 12 weeks' gestation. Enrolled into this prospective multicenter observational study were women with twin pregnancies diagnosed before 14 + 6 gestational weeks. The monochorionic pregnancies were scanned every second week until 23 weeks in order to rule out early TTTS. All pregnancies had an anomaly scan in week 19 and fetal echocardiography in week 21 that was performed by specialists in fetal echocardiography. Zygosity was determined by DNA analysis in all twin pairs with the same sex. Among the 495 pregnancies the prenatal detection rate for severe structural abnormalities including chromosomal aneuploidies was 83% by the combination of a first-trimester nuchal translucency scan and the anomaly scan in week 19. The incidence of severe structural abnormalities was 2.6% and two-thirds of these anomalies were cardiac. There was no significant difference between the incidence in monozygotic and dizygotic twins, nor between twins conceived naturally or those conceived by assisted reproduction. The incidence of TTTS was 23% from 12 weeks until delivery, and all those monochorionic twin pregnancies that miscarried had signs of TTTS. Twin pregnancies have an increased risk of congenital malformations and one out of four monochorionic pregnancies develops TTTS. Ultrasound screening to assess chorionicity and follow-up of monochorionic pregnancies to detect signs of TTTS, as well as malformation screening, are therefore essential in the antenatal care of twin pregnancies. Copyright (c) 2007 ISUOG.

  5. Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism

    PubMed Central

    Musova, Zuzana; Hancarova, Miroslava; Havlovicova, Marketa; Pourova, Radka; Hrdlicka, Michal; Kraus, Josef; Trkova, Marie; Stejskal, David; Sedlacek, Zdenek

    2016-01-01

    Myotonic dystrophy type 1 (DM1) belongs to the broad spectrum of genetic disorders associated with autism spectrum disorders (ASD). ASD were reported predominantly in congenital and early childhood forms of DM1. We describe dizygotic twin boys with ASD who were referred for routine laboratory genetic testing and in whom karyotyping, FMR1 gene testing, and single nucleotide polymorphism array analysis yielded negative results. The father of the boys was later diagnosed with suspected DM1, and testing revealed characteristic DMPK gene expansions in his genome as well as in the genomes of both twins and their elder brother, who also suffered from ASD. In accord with previous reports on childhood forms of DM1, our patients showed prominent neuropsychiatric phenotypes characterized especially by hypotonia, developmental and language delay, emotional and affective lability, lowered adaptability, and social withdrawal. The experience with this family and multiple literature reports of ASD in DM1 on the one side but the lack of literature data on the frequency of DMPK gene expansions in ASD patients on the other side prompted us to screen the DMPK gene in a sample of 330 patients with ASD who were first seen by a geneticist before they were 10 years of age, before the muscular weakness, which may signal DM1, usually becomes obvious. The absence of any DMPK gene expansions in this cohort indicates that targeted DMPK gene testing can be recommended only in ASD patients with specific symptoms or family history suggestive of DM1. PMID:27695335

  6. Iron Refractory Iron Deficiency Anemia in Dizygotic Twins Due to a Novel TMPRSS6 Gene Mutation in Addition to Polymorphisms Associated With High Susceptibility to Develop Ferropenic Anemia

    PubMed Central

    Pinto, Joana; Nobre de Jesus, Gustavo; Palma Anselmo, Mónica; Gonçalves, Lúcia; Brás, Daniela; Madeira Lopes, João; Meneses, João; Victorino, Rui; Faustino, Paula

    2017-01-01

    Iron refractory iron deficiency anemia (IRIDA) is an autosomal recessive ferropenic anemia. Its hypochromic microcytic pattern is associated with low transferrin saturation, normal-high ferritin, and inappropriately high hepcidin level. This entity is caused by mutants of the TMPRSS6 gene that encodes the protein matriptase II, which influences hepcidin expression, an iron metabolism counterregulatory protein. We report two 29-year-old dizygotic female twins with ferropenic, hypochromic microcytic anemia with 20 years of evolution, refractory to oral iron therapy. After exclusion of gastrointestinal etiologies, IRIDA diagnosis was suspected and a novel mutation in the TMPRSS6 gene was identified. It was found in intron 11 (c.1396+4 A>T) and seems to affect the gene expression. In addition, 3 polymorphisms already associated with a higher risk of developing iron deficiency anemia were also found (D521D, V736A, and Y739Y). Our case reports an undescribed mutation causing IRIDA and supports the hypothesis that this clinical syndrome may be more common than previously thought and its genetics more heterogeneous than initially described. PMID:28491880

  7. Monochorionic-diamniotic discordant growth in a twin pregnancy with one fetus affected by Ebstein's anomaly of tricuspid leaflets.

    PubMed

    Fukami, Tatsuya; Goto, Maki; Matsuoka, Sakiko; Sorano, Sumire; Tohyama, Atsushi; Yamamoto, Hiroko; Nakamura, Sumie; Matsuoka, Ryoei; Tsujioka, Hiroshi; Eguchi, Fuyuki

    2016-07-01

    Our patient was diagnosed as having discordant twin growth with Ebstein's anomaly in the larger fetus. Cardiac function was deteriorated in accordance with progression of gestational age. Our observation indicated cardiac failure of the larger fetus. The most important issue in this situation is management of the timing of delivery.

  8. Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation.

    PubMed

    Rijntjes-Jacobs, Esther G J; Lopriore, Enrico; Steggerda, Sylke J; Kant, Sarina G; Walther, Frans J

    2010-11-01

    The Schimmelpenning-Feuerstein-Mims (SFM) syndrome comprises a craniofacial nevus sebaceus, seizures, developmental delay, ocular and skeletal abnormalities. It is a sporadic condition and hypothesized to result from mosaicism involving a lethal autosomal dominant gene. We report a second occurrence of discordant monozygotic (MZ) twins with severe SFM, supporting the concept of a postzygotic mutation. © 2010 Wiley-Liss, Inc.

  9. 6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.

    PubMed

    Bozza, Margherita; Bernardini, Laura; Novelli, Antonio; Brovedani, Paola; Moretti, Elena; Canapicchi, Raffaello; Doccini, Viola; Filippi, Tiziana; Battaglia, Agatino

    2013-05-01

    Submicroscopic 6p25 deletion is now recognized as a clinically identifiable syndrome, characterized by intellectual disability, language impairment, hearing deficit, craniofacial, ophthalmologic, cardiac, and varying central nervous system anomalies. We report on two dyzogotic twins with a maternal segregating hemizygous interstitial deletion on chromosome 6p25.1, spanning 0.9 kb; the smallest ever reported. Both had dysmorphic features (prominence of the metopic suture, synophrys, hypertelorism, down-slanting palpebral fissures, tented mouth), and a distinct brain MRI, showing a focal significant increase of the right peri-frontal subarachnoid space, with shallow sulci and a mild anomaly of the gyral pattern. Such brain anomaly has never been reported in association with del 6p25. Both propositi had a borderline-mild intellectual disability, speech and language difficulties, and behavior abnormalities. Their mother, formally tested, had a borderline cognitive impairment. Although none of the genes mapping to the deleted region are apparently related to the phenotype, LYRM4 resulted down-regulated in the cerebellar cortex of schizophrenia patients compared with controls, and Lyrm4 was down-regulated in the prefrontal cortex of mice with microdeletions in the locus syntenic to human 22q11.2 patients affected by schizophrenia. These data are in agreement with the emerging concept that similar CNVs are pathogenic in patients affected by distinct neurological diseases, and that these loci are more general risk factors for different disorders. The resemblance of our patients to those with the more extensive 6p25.1p25.3 terminal deletion suggests that the gene/s responsible for the physical phenotype should reside in the 6p25.1 genomic region. Copyright © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  10. Monochorionic twin delivery after conservative surgical treatment of a patient with severe diffuse uterine adenomyosis without uterine rupture

    PubMed Central

    Kwack, Jae Young; Jeon, Su-Bun; Kim, Keuna; Lee, Soo-Jeong

    2016-01-01

    A 31-year-old nulliparous woman with severe diffuse uterine adenomyosis, which replaced nearly the whole uterine myometrium, visited our hospital due to severe dysmenorrhea, menorrhagia, and a desire to have a baby. The patient had a history of two spontaneous abortions. Laparotomic adenomyomectomy with transient occlusion of uterine arteries (TOUA) was performed safely and the patient tried in vitro fertilization and achieved a intrauterine twin pregnancy after recovery time of the operation. At 31+6 weeks of gestation, a male neonate baby weighing 1,620 g and a male neonate baby weighing 1,480 g were born by transverse lower segment cesarean delivery. There was no complication after the operation. The babies were discharged after receiving routine neonatal intensive care for neonatal respiratory distress syndrome. Adenomyomectomy with TOUA technique would be an option for conservative surgical treatment in patients with severe diffuse whole uterine adenomyosis. This is the first report of twin pregnancy after diffuse whole uterine adenomyomectomy with TOUA. PMID:27462599

  11. Selective reduction in complex monochorionic gestations.

    PubMed

    Bebbington, Michael

    2014-09-01

    The early determination of chorionicity in twin gestations is a critical factor in the management of twin gestations. While twins and higher order multiple gestations have increased risks of almost any complication of pregnancy, those pregnancies involving a monochorionic (MC) twin pair are at an especially high risk. The presence of vascular anastomoses within a MC placenta creates risk for discordant malformations, twin reversed arterial perfusion sequence, twin-to-twin transfusion syndrome, or severe selective intrauterine growth restriction. While selective reduction of higher order multiple pregnancies is performed to reduce pregnancy-related risks and improve overall outcomes, selective reduction is also an important management strategy in situations where MC pregnancies develop complex complications. This procedure can be lifesaving for the cotwin by preventing intrauterine demise or extreme prematurity. There are several techniques that can be considered, each with its own advantages and disadvantages. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  12. Obstetric outcomes of monochorionic pregnancies conceived following assisted reproductive technology: A retrospective study

    PubMed Central

    Mascarenhas, Mariano; Kamath, Mohan S.; Muthukumar, K; Mangalaraj, Ann M.; Chandy, Achamma; Aleyamma, TK

    2014-01-01

    OBJECTIVES: The overwhelming numbers of twins following assisted reproductive technology (ART) are dichorionic twins, but monochorionic twins account for around 0.9% of post ART pregnancies. The data for post ART-monochorionic pregnancy outcomes are scarce due to the rarity of this condition. Hence, we evaluated the obstetric outcomes of monochorionic and dichorionic pregnancies conceived on ART. SETTINGS: University teaching hospital. STUDY DESIGN: A case–control study of monochorionic diamniotic (MCDA) and dichorionic diamniotic (DCDA) pregnancies conceived following ART treatment. Charts of all women who conceived following ART from 2008 to 2013 were screened. Among them, the monochorionic twins diagnosed in the first trimester were included and their obstetric outcome was followed-up. For comparison, an equal number of dichorionic twin pregnancies from age and body mass index matched mothers was selected. RESULTS: The baseline clinical characteristics were similar between the two groups. MCDA group had a higher miscarriage rate (50%) than the DCDA group (10%), with three seconds trimester miscarriages in the MCDA group. The live birth rates were lower in the MCDA versus DCDA group (40% vs. 90%). Among triplet pregnancies with a monochorionic component, the live birth rate was only 25%. CONCLUSIONS: Monochorionic pregnancies following ART have poorer obstetric outcomes when compared to dichorionic pregnancies. For monochorionic pregnancies following ART, intensive antenatal surveillance at a tertiary level obstetric and neonatal center may help optimize the outcome. PMID:25191025

  13. Intertwin anastomoses in monochorionic placentas after fetoscopic laser coagulation for twin-to-twin transfusion syndrome: is there more than meets the eye?

    PubMed

    Lewi, Liesbeth; Jani, Jacques; Cannie, Mieke; Robyr, Romaine; Ville, Yves; Hecher, Kurt; Gratacos, Eduardo; Vandecruys, Hilde; Vandecaveye, Vincent; Dymarkowski, Steven; Deprest, Jan

    2006-03-01

    This study was undertaken to detect missed anastomoses on the chorionic surface as well as hidden connections in the depth of the cotyledons in placentas after laser coagulation for twin-to-twin transfusion syndrome (TTTS) and to correlate these findings to clinical outcome. All cord vessels were injected with dyed barium sulphate. A digital photograph of the chorionic surface angioarchitecture and single-shot digital X-ray (Rx) angiograms were made. The presence and diameter of any missed anastomoses on the chorionic surface and of any hidden angiographic connections were determined. Fifty placentas were analyzed, 7 of double intrauterine fetal death (IUFD) and 43 of double survivors. In 9 of 43 (21%) cases with double survival and in all 7 cases of double IUFD, missed anastomoses were identified that should have been ablated by laser coagulation (P < .001). There appeared to be a correlation between the type and diameter of missed anastomoses on the chorionic surface and the clinical outcome. Placentas with missed large arteriovenous/venoarterial anastomoses (AV/VA) (N = 8) were from cases with recurrent TTTS or double IUFD (unless compensated by a large arterioarterial anastomosis [AA]). Next, missed small AV/VA (N = 4) without AA resulted in isolated (ie, without TTTS) discordant hemoglobin levels requiring intrauterine transfusion. Finally, when there were no missed anastomoses (N = 34), TTTS had resolved in all cases and outcome was good, although 1 case had discordant hemoglobin values treated with a single intrauterine transfusion and 4 others had discordant hemoglobin at birth. On Rx angiography, potential hidden connections were present, all but 1 case. Coagulation of all anastomoses visible on the chorionic surface seems adequate to treat TTTS. However, hidden connections in the depth of the cotyledon could not be excluded and may be involved in lesser degrees of intertwin transfusion.

  14. Multicenter dizygotic twin cohort study confirms two linkage susceptibility loci for body mass index at 3q29 and 7q36 and identifies three further potential novel loci

    PubMed Central

    Kettunen, J; Perola, M; Martin, NG; Cornes, BK; Wilson, SG; Montgomery, GW; Benyamin, B; Harris, JR; Boomsma, D; Willemsen, G; Hottenga, J-J; Slagboom, PE; Christensen, K; Kyvik, KO; Sørensen, TIA; Pedersen, NL; Magnusson, PKE; Andrew, T; Spector, TD; Widen, E; Silventoinen, K; Kaprio, J; Palotie, A; Peltonen, L

    2010-01-01

    Objective To identify common loci and potential genetic variants affecting body mass index (BMI, kg m−2) in study populations originating from Europe. Design We combined genome-wide linkage scans of six cohorts from Australia, Denmark, Finland, the Netherlands, Sweden and the United Kingdom with an ~10-cM microsatellite marker map. Variance components linkage analysis was carried out with age, sex and country of origin as covariates. Subjects The GenomEUtwin consortium consists of twin cohorts from eight countries (Australia, Denmark, the Netherlands, Finland, Italy, Norway, Sweden and the United Kingdom) with a total data collection of more than 500 000 monozygotic and dizygotic (DZ) twin pairs. Variance due to early-life events and the environment is reduced within twin pairs, which makes DZ pairs highly valuable for linkage studies of complex traits. This study totaled 4401 European-originated twin families (10 535 individuals) from six countries (Australia, Denmark, the Netherlands, Finland, Sweden and the United Kingdom). Results We found suggestive evidence for a quantitative trait locus on 3q29 and 7q36 in the combined sample of DZ twins (multipoint logarithm of odds score (MLOD) 2.6 and 2.4, respectively). Two individual cohorts showed strong evidence independently for three additional loci: 16q23 (MLOD = 3.7) and 2p24 (MLOD = 3.4) in the Dutch cohort and 20q13 (MLOD = 3.2) in the Finnish cohort. Conclusion Linkage analysis of the combined data in this large twin cohort study provided evidence for suggestive linkage to BMI. In addition, two cohorts independently provided significant evidence of linkage to three new loci. The results of our study suggest a smaller environmental variance between DZ twins than full siblings, with a corresponding increase in heritability for BMI as well as an increase in linkage signal in well-replicated regions. The results are consistent with the possibility of locus heterogeneity for some genomic regions, and indicate a

  15. Diagnosis of twin-to-twin transfusion syndrome, selective fetal growth restriction, twin anaemia-polycythaemia sequence, and twin reversed arterial perfusion sequence.

    PubMed

    Sueters, Marieke; Oepkes, Dick

    2014-02-01

    Monochorionic twin pregnancies are well known to be at risk for a variety of severe complications, a true challenge for the maternal-fetal medicine specialist. With current standards of care, monochorionicity should be established in the first trimester. Subsequently, frequent monitoring using the appropriate diagnostic tools, and in-depth knowledge about the pathophysiology of all possible clinical presentations of monochorionic twin abnormalities, should lead to timely recognition, and appropriate management. Virtually all unique diseases found in monochorionic twins are directly related to placental angio-architecture. This, however, cannot be established reliably before birth. The clinician needs to be aware of the definitions and symptoms of twin-to twin transfusion syndrome, selective fetal growth restriction, twin anaemia-polycythaemia sequence, and twin reversed arterial perfusion sequence, to be able to recognise each disease and take the required action. In this chapter, we address current standards on correct and timely diagnoses of severe complications of monochorionic twin pregnancies.

  16. Serum microRNAs explain discordance of non-alcoholic fatty liver disease in monozygotic and dizygotic twins: a prospective study

    PubMed Central

    Zarrinpar, Amir; Gupta, Shakti; Maurya, Mano R; Subramaniam, Shankar; Loomba, Rohit

    2016-01-01

    Objective In the setting where two individuals are genetically similar, epigenetic mechanisms could account for discordance in the presence or absence of nonalcoholic fatty liver disease (NAFLD). This study investigated if serum microRNAs (miRs) could explain discordance in NAFLD. Design This is a cross-sectional analysis of a prospective cohort study of 40 (n=80) twin-pairs residing in Southern California. All participants underwent a standardised research visit, liver MRI using proton-density fat fraction to quantify fat content and miR profiling of their serum. Results Among the 40 twin-pairs, there were 6 concordant for NAFLD, 28 were concordant for non-NAFLD and 6 were discordant for NAFLD. The prevalence of NAFLD was 22.5% (18/80). Within the six discordant twins, a panel of 10 miRs differentiated the twin with NAFLD from the one without. Two of these miRs, miR-331-3p and miR-30c, were also among the 21 miRs that were different between NAFLD and non-NAFLD groups (for miR-331-3p: 7.644±0.091 vs 8.057 ±0.071, respectively, p=0.004; for miR-30c: 10.013 ±0.126 vs 10.418±0.086, respectively, p=0.008). Both miRs were highly heritable (35.9% and 10.7%, respectively) and highly correlated with each other (R=0.90, p=2.2×10−16) suggesting involvement in a common mechanistic pathway. An interactome analysis of these two miRs showed seven common target genes. Conclusions Using a novel human twin-study design, we demonstrate that discordancy in liver fat content between the twins can be explained by miRs, and that they are heritable. PMID:26002934

  17. The North American Fetal Therapy Network Consensus Statement: prenatal management of uncomplicated monochorionic gestations.

    PubMed

    Emery, Stephen P; Bahtiyar, Mert Ozan; Dashe, Jodi S; Wilkins-Haug, Louise E; Johnson, Anthony; Paek, Bettina W; Moon-Grady, Anita J; Skupski, Daniel W; OʼBrien, Barbara M; Harman, Christopher R; Simpson, Lynn L

    2015-05-01

    Owing to vascular connections within a single placenta, monochorionic gestations present distinctive prenatal management challenges. Complications that can arise as a result of unbalanced hemodynamic exchange (twin-twin transfusion syndrome and twin anemia polycythemia sequence) and unequal placental sharing (selective fetal growth restriction) should be kept in mind while prenatal management is being planned. Because of unique monochorionic angioarchitecture, what happens to one twin can directly affect the other. Death of one twin can result in death or permanent disability of the co-twin. Early detection of these unique disease processes through frequent ultrasonographic surveillance may allow the opportunity for earlier referral, intervention, or both and potentially better outcomes. Therefore, monochorionic gestations should be managed differently than dichorionic gestations or singletons. The purpose of this document is to present in detail methods for monitoring and management of uncomplicated monochorionic gestations and to review the evidence for the roles of these methods for detection of complications in clinical practice. Finally, we present evidence-based and expert opinion-supported recommendations developed by the North American Fetal Therapy Network for the diagnosis, surveillance, and delivery of uncomplicated monochorionic gestations.

  18. Managing Monoamniotic Twin Pregnancies.

    PubMed

    Post, Annalisa; Heyborne, Kent

    2015-09-01

    Monoamniotic twins comprise a rare but important subset of twins at risk of unique and serious complications, placing them at the highest risk of perinatal mortality of all twin gestations. In addition to risks faced by all twins (prematurity, selective growth restriction), all monochorionic twins (twin-twin transfusion syndrome), and all monozygotic twins (congenital anomalies), monoamniotic twins face the unique risk of cord entanglement. Accordingly, early diagnosis, screening for fetal anomalies, surveillance for twin-twin transfusion syndrome, decisions related to monitoring after viability, and timing and route of delivery are all critical. Herein, we present recommendations for optimal management.

  19. Chorionicity and Heritability Estimates from Twin Studies: The Prenatal Environment of Twins and Their Resemblance Across a Large Number of Traits.

    PubMed

    van Beijsterveldt, C E M; Overbeek, L I H; Rozendaal, L; McMaster, M T B; Glasner, T J; Bartels, M; Vink, J M; Martin, N G; Dolan, C V; Boomsma, D I

    2016-05-01

    There are three types of monozygotic (MZ) twins. MZ twins can either share one chorion and one amnion, each twin can have its own amnion, or MZ twins can-like dizygotic twins-each have their own chorion and amnion. Sharing the same chorion may create a more similar/dissimilar prenatal environment and bias heritability estimates, but most twin studies do not distinguish between these three types of MZ twin pairs. The aim of this paper is to investigate the effect of chorion sharing on the similarity within MZ twin pairs for a large number of traits. Information on chorion status was obtained for the Netherlands twin register (NTR) by linkage to the records from the database of the dutch pathological anatomy national automated archive (PALGA). Record linkage was successful for over 9000 pairs. Effect of chorion type was tested by comparing the within-pair similarity between monochorionic (MC) and dichorionic (DC) MZ twins on 66 traits including weight, height, motor milestones, child problem behaviors, cognitive function, wellbeing and personality. For only 10 traits, within-pair similarity differed between MCMZ and DCMZ pairs. For traits influenced by birth weight (e.g. weight and height in young children) we expected that MC twins would be more discordant. This was found for 5 out of 13 measures. When looking at traits where blood supply is important, we saw MCMZ twins to be more concordant than DCMZ's for 3 traits. We conclude that the influence on the MZ twin correlation of the intra-uterine prenatal environment, as measured by sharing a chorion type, is small and limited to a few phenotypes. This implies that the assumption of equal prenatal environment of mono- and DC MZ twins, which characterizes the classical twin design, is largely tenable.

  20. Analysis of the T-cell receptor V beta usage in monozygotic and dizygotic twins living in a Plasmodium falciparum endemic area in west Africa.

    PubMed

    Troye-Blomberg, M; Fogdell, A; el-Ghazali, G; Larsson, A; King, M H; Sisay-Joof, F; Olerup, O; Grunewald, J; Jepson, A

    1997-05-01

    To investigate the influence of genetic and/or environmental factors in the development and shaping of the human peripheral T cell repertoire the authors studied the T-cell receptor (TCR) V beta usage in 10 adult monozygous (Mz) and nine dizygous (Dz) twin pairs living in a Plasmodium falciparum endemic area in West Africa. The TCR repertoire was determined using a small panel of anti-V beta specific monoclonal antibodies (MoAbs) using conventional immunofluorescence assays. The results revealed that the V beta repertoire was similar to that recently described for a Caucasian population using a similar panel of antibodies. The frequencies of particular V beta genes tested were influenced neither by anti-malarial antibody titres nor by parasite densities, indicating that the P. falciparum parasite is not a dominating factor in determining the peripheral T cell repertoire. All donors were human leucocyte antigen (HLA) class I and II typed; no association was found between the expression of any V beta genes and MHC haplotype. The V beta usage was more concordant within the Mz than within the Dz pairs. For a group comprising four HLA class II identical individuals, the average within-pair difference was significantly greater than for the whole Mz group, but similar to that seen for the total Dz group. Thus, the data suggest that genetic, rather than environmental, factors have a profound effect on the shaping of the human circulating T cell repertoire and that the major genetic factors are encoded by non-HLA class II genes.

  1. Vascular programming in twins: the effects of chorionicity and fetal therapy for twin-to-twin transfusion syndrome.

    PubMed

    Gardiner, H M; Barlas, A; Matsui, H; Diemert, A; Taylor, M J O; Preece, J; Gordon, F; Greenwald, S E; Hecher, K

    2012-06-01

    We assessed vascular programming in genetically identical monochorionic twin pairs with twin-to-twin transfusion syndrome (TTTS) treated differently in utero by serial amnioreduction or fetal laser arterial photocoagulation. This case-control study re-assessed four twin groups at median 11 years comprising 20 pairs of monochorionic diamniotic twins: nine treated by amnioreduction (TTTS-amnio) and eleven by laser (TTTS-laser) with seven monochorionic and six dichorionic control pairs. Outcome measures were current blood pressure (BP), brachio-radial arterial stiffness derived from pulse wave velocity (PWV), resting microcirculation (Flux) and response to heating and post-occlusive reactive hyperaemia measured using laser Doppler. Potential confounders [PWV and BP at first study, current height, weight, heart rate and twin type (ex-recipient, ex-donor or heavier/lighter of pair)] were accounted for by Mixed Linear Models statistical methodology. PWV dichorionic > monochorionic (P = 0.024); systolic and diastolic BP dichorionic > TTTS-amnio and TTTS-laser (P = 0.004, P = 0.02 and P = 0.005, P = 0.02, respectively). Within-twin pair pattern of PWV discordance was similar in laser treated and dichorionic controls (heavier-born > lighter), opposite to TTTS-amnio and monochorionic controls. Flux monochorionic > dichorionic (P = 0.044) and heavier > lighter-born (P = 0.024). TTTS-laser and dichorionic diamniotic showed greatest hyperaemic responses (dichorionic > TTTS-amnio or monochorionic controls (P = 0.007, P = 0.025). Hyperaemic responses were slower in heavier-born twins (P = 0.005). In summary, monochorionic twins had lower BP, arterial stiffness and increased resting vasodilatation than dichorionic twins implying shared fetal circulation affects vascular development. Vascular responses in laser-TTTS were similar to dichorionic and opposite to TTTS-amnio suggesting a lasting effect of fetal therapy on vascular health.

  2. Dizygotic triplet pregnancy following in-vitro fertilization.

    PubMed

    Avrech, O; Schoenfeld, A; Amit, S; Ovadia, J; Fisch, B

    1993-12-01

    We present a case of dizygotic triplet pregnancy (mono-amniotic twins and a singleton) that, as far as we know, is the first reported one induced by artificial reproductive technology. It ended in the delivery of three healthy normal babies: two monozygotic twin boys and a girl. It appears that zygote splitting is significantly more common in patients treated with ovulation-inducing agents than in the general population. Also, in-vitro conditions of embryonic growth might influence the chances of multifetal gestation and the incidence of identical twinning. This may be due to changes in the physical properties of the zona pellucida and subsequent partial hatching of the pre-embryo. Evaluation of similar cases in the future may shed more light on the mechanism underlying their occurrence following in-vitro fertilization.

  3. Accurate and simple evaluation of vascular anastomoses in monochorionic placenta using colored dye.

    PubMed

    Lopriore, Enrico; Slaghekke, Femke; Middeldorp, Johanna M; Klumper, Frans J; van Lith, Jan M; Walther, Frans J; Oepkes, Dick

    2011-09-05

    The presence of placental vascular anastomoses is a conditio sine qua non for the development of twin-to-twin transfusion syndrome (TTTS) and twin anemia polycythemia sequence (TAPS)(1,2). Injection studies of twin placentas have shown that such anastomoses are almost invariably present in monochorionic twins and extremely rare in dichorionic twins(1). Three types of anastomoses have been documented: from artery to artery, from vein to vein and from artery to vein. Arterio-venous (AV) anastomoses are unidirectional and are referred to as "deep" anastomoses since they proceed through a shared placental cotyledon, whereas arterio-arterial (AA) and veno-venous (VV) anastomoses are bi-directional and are referred to as "superficial" since they lie on the chorionic plate. Both TTTS and TAPS are caused by net imbalance of blood flow between the twins due to AV anastomoses. Blood from one twin (the donor) is pumped through an artery into the shared placental cotyledon and then drained through a vein into the circulation of the other twin (the recipient). Unless blood is pumped back from the recipient to the donor through oppositely directed deep AV anastomoses or through superficial anastomoses, an imbalance of blood volumes occurs, gradually leading to the development of TTTS or TAPS. The presence of an AA anastomosis has been shown to protect against the development of TTTS and TAPS by compensating for the circulatory imbalance caused by the uni-directional AV anastomoses(1,2). Injection of monochorionic placentas soon after birth is a useful mean to understand the etiology of various (hematological) complications in monochorionic twins and is a required test to reach the diagnosis of TAPS(2). In addition, injection of TTTS placentas treated with fetoscopic laser surgery allows identification of possible residual anastomoses(3-5). This additional information is of paramount importance for all perinatologists involved in the management and care of monochorionic twins

  4. Primary tooth size asymmetry in twins and singletons.

    PubMed

    Heikkinen, T; Harila, V; Ollikkala, A; Alvesalo, L

    2016-08-01

    To explore asymmetry values of antimeric deciduous tooth crown dimensions in three types of twins: monozygotic (MZ), dizygotic same-sex (DZ) and opposite-sex (OS) vs. single-born controls. Mesiodistal and labio-lingual crown dimensions of second deciduous molars and mesiodistal canine and first molar crown dimensions of 2159 children at 6-12 years of age were evaluated, originating from the US cross-sectional Collaborative Perinatal Study from the 1970s, including altogether MZ (n = 28), DZ same-sex (n = 33) and OS (n = 39) pairs. Single born (n = 1959) were used as controls. Dental casts were measured for comparison of variance relationships calculated from antimeric teeth, exhibiting fluctuating (FA), and directional (DA) asymmetry using anova. Significant differences appeared in MZ and OS girls in DA of deciduous canines, which gain size in the first and second trimester, and deciduous second molars, which finally stop crown growth during the early post-natal period. Significantly, increased FA values appeared for lower deciduous canines and second molars, indicating greatest environmental stress in OS girls, MZ girls and DZ boys. Twin girls had more fluctuating and directional crown asymmetry than twin boys, but in some dimensions, the twins were more symmetric than controls. Transmembrane hormonal influence between opposite-sex twins, and late gestational stress factors, caused by placental malfunction and/or monochorionicity, may be involved in asymmetric growth of antimers, during critical periods of crown size gain. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Single Base-Resolution Methylome of the Dizygotic Sheep

    PubMed Central

    Liu, Bin; Su, Rui; Jiang, Yu; Wang, Wen; Dong, Yang

    2015-01-01

    Sheep is an important livestock in the world for meat, dairy and wool production. The third version of sheep reference genome has been recently assembled, but sheep DNA methylome has not been profiled yet. In this study, we report the comprehensive sheep methylome with 94.38% cytosine coverage at single base resolution by sequencing DNA samples from Longissimus dorsi of dizygotic Sunit sheep, which were bred in different habitats. We also compared methylomes between the twin sheep. DNA methylation status at genome-scale differentially methylated regions (DMRs), functional genomic regions and 248 DMR-containing genes were identified between the twin sheep. Gene ontology (GO) and KEGG annotations of these genes were performed to discover computationally predicted function. Lipid metabolism, sexual maturity and tumor-associated categories were observed to significantly enrich DMR-containing genes. These findings could be used to illustrate the relationship between phenotypic variations and gene methylation patterns. PMID:26536671

  6. Biparietal diameter in twins at gestational weeks 18-32. Differences and similarities. Le Groupe Romulus.

    PubMed

    Charlemaine, C; Duyme, M; Dubreuil, E; Clauzel, J P; Brossard, Y; Aurengo, A; Ville, Y; Frydman, R; Pons, J C

    1997-11-01

    To examine twin similarities on biparietal diameter (BPD) measurements by zygosity (monozygotic [MZ] and dizygotic [DZ]) and chorionicity (monochorionic [MC] and dichorionic [DC]) and their evolution during pregnancy. A sample of 54 pairs of twins (43 DZ sets, 11 MZ sets [7 MC and 4 DC]) was constructed using retrospective data. Despite the small sample size, our data were complete, and, for the first time we measured different fetal parameters on digital ultrasound images outside routine examination. The intraexaminer and interexaminer reliability of BPD measurement was significant (r = .95, P < .001). In this study, developmental results indicate significant linear regression coefficient (R) through the whole period of gestation (r = .96, P < .001), though product moment correlations comparing the periods of gestation two by two are weaker. The distribution of BPD values was slightly wider at the 28th week and markedly wider at the 32nd week than that at the 18th and 23rd weeks. The intraclass correlations of DZ and MZ (MC and DC) twins were examined at the 18th, 23rd, 28th and 32nd weeks of amenorhea. The intraclass correlations of DZ twins were significant through the whole period of gestation (r = .45, P = .001; r = .27, P = .04; r = .36, P = .008; and r = .42, P = .002, respectively), whereas the intraclass correlations of MZ twins were significant only at the 18th, 23rd and 28th weeks (r = .73, P = .002; r = .69, P = .005; r = .49, P = .047, respectively). We found significant within-variance differences not only between DZ and DC-MZ but also between DC-MZ and MC-MZ in late gestation. Our analysis of twin BPD development demonstrated that zygosity and chorionicity type are both important determinants of twin fetal development.

  7. Feto-fetal transfusion syndrome in monochorionic quadruplets.

    PubMed

    O'Brien, Barbara M; Feltovich, Helen M; Carr, Stephen R; Luks, Francois I

    2010-02-01

    Endoscopic laser ablation of placental vessels is now the preferred treatment for severe feto-fetal transfusion syndrome in twin gestations, and has been well-documented in triplet gestations as well. Stage IV feto-fetal transfusion syndrome was diagnosed at 20.3 weeks of gestation between two of a set of monochorionic, tetramniotic quadruplets. Endoscopic laser ablation occurred at 20.4 weeks. Feto-fetal transfusion recurred at 22 weeks between the initial donor and the two previously unaffected fetuses. Delivery occurred at 24.9 weeks. The donor and one of the corecipients died shortly after birth. The sole survivor was doing well. Treatment of feto-fetal transfusion syndrome in higher-order gestations is challenging because of the increased pregnancy risks, the difficult angioarchitecture and the risk of recurrence.

  8. A reassessment of biochemical marker distributions in trisomy 21-affected and unaffected twin pregnancies in the first trimester.

    PubMed

    Madsen, H N; Ball, S; Wright, D; Tørring, N; Petersen, O B; Nicolaides, K H; Spencer, K

    2011-01-01

    To estimate the difference between levels of the two biochemical markers pregnancy-associated plasma protein-A (PAPP-A) and maternal serum free β-human chorionic gonadotropin (free β-hCG) in twin pregnancies relative to singleton pregnancies and establish an improved screening procedure for chromosomal abnormalities such as trisomy 21 in twin pregnancies. 4843 unaffected and 47 trisomy 21-affected twin pregnancies were included in the study. Chorionicity-specific medians were generated for PAPP-A and free β-hCG from gestational ages 8 to 14 weeks. Multiple of the median values for each of the biochemical markers were calculated. Detection rates and false-positive rates were estimated for screening tests incorporating nuchal translucency and maternal age, with and without biochemistry. Medians for the two biochemical markers for monochorionic and dichorionic twins in unaffected pregnancies show a gestational age-specific increase relative to singleton medians. Allowing for gestation and chorionicity, twin pregnancies affected with trisomy 21 had higher levels of free β-hCG and lower levels of PAPP-A. Adding biochemistry into the risk assessment using a fixed risk cut-off of 1 in 100 increased the detection rate for fetal trisomy 21 in dizygotic twin pregnancies from 78 to 90%, and decreased the false-positive rate from 8.0 to 5.9%. Generation of chorionicity-specific medians for the biochemical markers and their use in risk assessment can improve the performance of first-trimester screening for chromosomal abnormalities in twins to a level comparable with that in singleton pregnancies.

  9. [Newborn outcomes after radiofrequency ablation for selective reduction in the complicated monochorionic pregnancies].

    PubMed

    Panciatici, M; Tosello, B; Blanc, J; Haumonté, J-B; D'Ercole, C; Gire, C

    2017-04-01

    To describe perinatal data and to evaluate the neonatal neurological outcome of monochorionic twin pregnancies with selective termination by radiofrequency ablation. Retrospective data of perinatal data for nine consecutive monochorionic pregnancies eligible for radiofrequency ablation from January 2013 to August 2015 were collected. A prospective observational study of the neurological outcome of nine children was conducted using the Ages & Stages Questionnaire (ASQ), 2nd edition, French version, adapted to the age. The radiofrequency procedures were performed at a mean gestational age (GA) of 21.4 weeks (±7 weeks). The indications for a selective interruption of a pregnancy were: acardiac twin (n=4), brain malformation (n=1), severe intrauterine growth restriction (IUGR) with massive cerebral ischemia in the context of twin-twin transfusion syndrome grade III (n=1), severe selective IUGR associated with a polymalformative syndrome (n=1) and severe selective IUGR (n=2). The mean GA at birth was 36.7 weeks GA (±3.8 weeks). No infant showed neurological neonatal morbidity. Any ASQ area explored was pathological (<-2SD) for the nine children (mean age at follow-up [±SD], 14.8 months [±8.8 months]). This work constitutes a preliminary study for developing long-term follow-up and early care programs for those children born subsequent to a radiofrequency ablation for selective reduction. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  10. Twin-twin transfusion syndrome.

    PubMed

    Rossi, A C; D'addario, V

    2009-04-01

    Twin-twin transfusion syndrome (TTTS) is a condition unique to monochorionic pregnancies, although very few case reports described the syndrome in dichorionic placentas. The aetiology of TTTS relies in the presence of at least 1 arterio-venous placental anastomosis, through which unequal blood exchange from one twin (donor) to the co-twin (recipient) occurs. The diagnosis of TTTS relies on the sonographic detection of oligohydramnios in the donor's sac and polyhydramnios in the recipient's sac in the second trimester, although signs of TTTS are present since the first trimester. Treatment options for TTTS include serial amnioreduction, septostomy, selective feticide of the apparently sick twin, and selective photocoagulation of placental vessels (SLPCV). Because of the growing evidence that SLPCV is the most efficacious therapy compared to amnioreduction with/without septostomy, the authors reviewed in details the effects of SLPCV on fetal growth and circulation. The authors further explore literature with regard to the prognostic factors. Finally, because Quintero staging system is actually under debate, they discuss the most recent findings on this topic and propose a new staging system to assess severity of TTTS at presentation (Rossi staging system). New topics for future research, which would probably further clarify the natural history of TTTS, are also proposed.

  11. The Vanishing Twin Syndrome: Two Cases of Extreme Malformations Associated With Vanished Twins.

    PubMed

    Shinnick, Julia K; Khoshnam, Nasim; Archer, Sydney R; Quigley, Philip C; Robinson, Haynes; Keene, Sarah; Santore, Matthew T; Hill, Sarah; Patel, Binita; Shehata, Bahig M

    2017-01-01

    Two cases of devastating fetal malformations associated with vanished monochorionic twins were identified upon review of pathology files. A 35-year-old G1P0 woman and 36-year-old G3P1 woman were both diagnosed with an intrauterine twin gestation via transvaginal ultrasound at 10 weeks. The spectrum of fetal anomalies ranged from omphalocele, bilateral upper extremity, and unilateral lower extremity hypoplasia, to craniofacial malformation with diaphragmatic hernia. On histopathologic examination, the placentas demonstrated vascular anastomoses between the surviving co-twin and the "vanished" fetal sac. We propose anastomotic placental vasculature as a contributing factor to the observed fetal malformations. Additionally, genetic or teratogenic factors may have been attributed to the demise of the first twin and the anomalies seen in the other twin. While such instances are rare, they are important to consider when counseling patients regarding outcomes associated with a monochorionic vanished twin.

  12. Emergent Novelties in the Mentality of Dizygotic Twins.

    ERIC Educational Resources Information Center

    Bierschenk, Bernhard

    Scanator is an extremely valuable tool in the functional analysis of qualitative stability in text building behavior during writing. Scanator also allows for a detailed investigation of subtle changes emerging in the structural relations of emergent novelties. This study focused on the extension of the application of Scanator to one pair of…

  13. Twin fetuses: intravascular microbubble US contrast agent administration--early experience.

    PubMed

    Denbow, M L; Welsh, A W; Taylor, M J; Blomley, M J; Cosgrove, D O; Fisk, N M

    2000-03-01

    To explore the feasibility of administering SH U 508A by using a single-needle procedure at ultrasonography (US) in twin pregnancies to confirm interfetal transfusion in monochorionic twins and delineate placental angioarchitecture in pregnancies with twin-twin transfusion syndrome. Fourteen twin pregnancies were studied over 12 months: seven with monochorionic twins, including six with twin-twin transfusion syndrome; two of unknown chorionicity; and five with known dichorionic twins discordant for fetal karyotype or anomaly and undergoing selective feticide in the third trimester. Bolus injection of 100 microL/kg of estimated fetoplacental weight of 400 mg/mL of SH U 508A was performed in the intrahepatic vein of one twin, and evidence of interfetal transfusion was sought by means of digital analysis of power Doppler signals in the contralateral twin. Contralateral twin echo enhancement was seen in four of the nine ultimately histopathologically proved monochorionic twins. As expected, no evidence of echo enhancement in the contralateral twin was seen in any of the five dichorionic twin pregnancies. There was no evidence of fetal compromise associated with the procedure. These pilot results suggest that microbubbles can be used to demonstrate interfetal transfusion but not to delineate placental vascular anatomy.

  14. Color-dye injection of monochorionic placentas and correlation with pregnancy complications.

    PubMed

    Lanna, Mariano Matteo; Consonni, Dario; Faiola, Stefano; Schena, Vito; Ratti, Martina; Ferrazzi, Enrico; Rustico, Maria Angela

    2015-10-01

    Vascular anastomoses in monochorionic (MC) twin placenta can be easily identified with color-dye injection. The aim of this study is to analyze the relationship between different type of anastomoses and twin pregnancy complications. From January 2011 to October 2014, MC placentas were analyzed with color-dye injection and five group of pregnancies were identified: those that were not complicated (NC), those complicated with selective intrauterine growth restriction (sIUGR), twin-twin transfusion syndrome (TTTS), or twin anemia-polycitemia sequence (TAPS) and those with amniotic fluid discordance (AFD) between twins. Cases of TTTS treated with endoscopic laser coagulation of placenta anastomoses or cases with in utero death of one twin were excluded. A total of 118 MC placentas were observed, 58 (49%) NC, 35 (30%) sIUGR, 10 (8%) TTTS, 13 (11%) AFD and 2 (2%) TAPS. The median number of anastomoses was 7 (range 1-15), 8 (2-18), 4 (2-11), 7 (2-13) and 1 (1-1), respectively. At least one artero-venous anastomoses was found in the placenta observed, while the prevalence of artero-arterial anastomoses was 95% for NC, 91% for sIUGR, 60% for TTTS, and 77% for AFD; no TAPS placenta had this type of anastomoses. The diameter of arteroarterial anastomoses was greater in the AFD group (3.3 mm), compared to the NC, sIUGR and TTTS groups (2.3, 2.5 and 1.4 respectively, p 0.04). In this large serie of MC placenta analyzed with color-dye injection, a specific distribution of anastomoses emerged for twins with amniotic fluid discordance, which points to a need for intensive surveillance. Copyright © 2015 Elsevier Ltd. All rights reserved.

  15. [Multicystic encephalomalacia in a surviving twin after death of the other twin in utero].

    PubMed

    Lajarrige, C; Adafer, M; Yassine, B; Atallah, W; Mouthemy, G; Klink, R; Khoury, M; Bouhelier, P; Kremp, L

    1993-01-01

    A case of multicystic encephalomalacia in a twin is reported. The other twin died in utero at 32 weeks gestational age. Because there was no evidence of fetal distress the pregnancy was allowed to continue until 36 weeks gestational age. Injuries to the surviving twin due to disseminated intravascular coagulation (DIVC) and vascular thrombosis or to anoxia and ischemia may occur when there are anastomoses between the circulatory systems of the two twins, i.e., in monochorionic pregnancies. The classically recommended strategy is to wait for adequate maturity of the surviving fetus (36 weeks). It is suggested that this attitude may be overly expectant and may deserve reappraisal.

  16. A twin study on age-related macular degeneration.

    PubMed Central

    Meyers, S M

    1994-01-01

    A prospective twin study on age-related macular degeneration (AMD) recruited 83 monozygotic pairs, 28 dizygotic pairs, and one triplet set from 1986 through 1993. Zygosity was determined by genetic testing of red cell markers, HLA antigens, or specific DNA loci. There were no twin pairs in which I collected data on only one twin. To decrease ascertainment bias, after 1991 the recruitment notice did not mention AMD, and I did not ask about a history of eye disease before the eye examination. Because of this, twin pairs recruited from 1986 through 1991 were statistically analyzed separately from those after January 1, 1992. From 1986 through 1991, 23 twin pairs were recruited; 11 monozygotic and 2 dizygotic pairs had nonAMD retinal changes or no retinal abnormalities, 9 monozygotic pairs with AMD were all concordant, and 1 dizygotic pair was discordant for basal laminar drusen. The concordance rate of AMD did not differ significantly between monozygotic and dizygotic twin pairs (P = .10) for 1986 through 1991. In 1992 and 1993, 88 twin pairs and one triplet set were recruited; 49 monozygotic and 19 dizygotic pairs had nonAMD retinal changes or no retinal abnormalities, 14 monozygotic pairs with AMD were all concordant, and 2 of 7 dizygotic pairs were concordant for AMD. The nonidentical triplets (1 with and 2 without AMD) were categorized as one of the discordant dizygotic pairs in the statistical evaluation. In nontwin age-matched (within 2 or 5 years of age) or age- and sex-matched sibling pairs the concordance rate of AMD ranged from 16% to 25%. The concordance rate of AMD was significantly higher in monozygotic than in dizygotic twins (P = .001) for 1992 and 1993. The concordance rate was higher for monozygotic twin pairs recruited in 1992 and 1993 than in any of the four subsets of nontwin age-method or age- and sex-matched sibling pairs (P < .0001). Overall, from 1986 through 1993, 23 of 23 monozygotic and 2 of 8 dizygotic twin pairs were concordant for AMD

  17. Heritability of Retinal Vascular Fractals: A Twin Study.

    PubMed

    Vergmann, Anna Stage; Broe, Rebecca; Kessel, Line; Hougaard, Jesper Leth; Möller, Sören; Kyvik, Kirsten Ohm; Larsen, Michael; Munch, Inger Christine; Grauslund, Jakob

    2017-08-01

    To determine the genetic contribution to the pattern of retinal vascular branching expressed by its fractal dimension. This was a cross-sectional study of 50 monozygotic and 49 dizygotic, same-sex twin pairs aged 20 to 46 years. In 50°, disc-centered fundus photographs, the retinal vascular fractal dimension was measured using the box-counting method and compared within monozygotic and dizygotic twin pairs using Pearson correlation coefficients. Falconer's formula and quantitative genetic models were used to determine the genetic component of variation. The mean fractal dimension did not differ statistically significantly between monozygotic and dizygotic twin pairs (1.505 vs. 1.495, P = 0.06), supporting that the study population was suitable for quantitative analysis of heritability. The intrapair correlation was markedly higher (0.505, P = 0.0002) in monozygotic twins than in dizygotic twins (0.108, P = 0.46), corresponding to a heritability h2 for the fractal dimension of 0.79. In quantitative genetic models, dominant genetic effects explained 54% of the variation and 46% was individually environmentally determined. In young adult twins, the branching pattern of the retinal vessels demonstrated a higher structural similarity in monozygotic than in dizygotic twin pairs. The retinal vascular fractal dimension was mainly determined by genetic factors, which accounted for 54% of the variation. The genetically predetermination of the retinal vasculature may affect the retinal response to potential vascular disease in later life.

  18. Effect of co-twin gender on neurodevelopmental symptoms: a twin register study.

    PubMed

    Eriksson, Jonna Maria; Lundström, Sebastian; Lichtenstein, Paul; Bejerot, Susanne; Eriksson, Elias

    2016-01-01

    Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are neurodevelopmental disorders thought to have both genetic and environmental causes. It has been hypothesized that exposure to elevated levels of prenatal testosterone is associated with elevated traits of ASD and ADHD. Assuming that testosterone levels from a dizygotic male twin fetus may lead to enhanced testosterone exposure of its co-twins, we aimed to test the prenatal testosterone hypothesis by comparing same-sex with opposite-sex dizygotic twins with respect to neurodevelopmental symptoms. Neuropsychiatric traits were assessed in a population-based twin cohort from the Child and Adolescent Twin Study in Sweden (CATSS). Parental interviews were conducted for 16,312 dizygotic twins, 9 and 12 years old, with the Autism-Tics, ADHD, and other Comorbidities inventory (A-TAC). Girls with a female co-twin had an increased risk of reaching the cut-off score for ADHD compared with girls with a male co-twin. Both boys and girls with a female co-twin displayed a larger number of traits related to attention deficit and repetitive and stereotyped behaviors than those with a male twin. In girls, this also extended to social interaction and the combined measures for ASD and ADHD, however, with small effect sizes. Our results are reverse to what would have been expected from the prenatal testosterone hypothesis but consistent with a previous study of ASD and ADHD traits in dizygotic twins. The seemingly protective effect for girls of having a twin brother may be an effect of parent report bias, but may also be an unexpected effect of sharing the intrauterine environment with a male co-twin.

  19. Ductus venosus Doppler at 11 to 13 weeks of gestation in the prediction of outcome in twin pregnancies.

    PubMed

    Maiz, Nerea; Staboulidou, Ismini; Leal, Antonio M; Minekawa, Ryoko; Nicolaides, Kypros H

    2009-04-01

    To examine the independent contribution of abnormal flow in the ductus venosus at 11 to 13 weeks of gestation in the prediction of adverse pregnancy outcome in relation to chorionicity. This was a prospective study in 516 dichorionic and 179 monochorionic twin pregnancies in which the fetal ductus venosus flow was assessed at 11 0/7 to 13 6/7 weeks of gestation. The prevalence of reversed a-wave in the fetal ductus venosus was compared between monochorionic and dichorionic pregnancies and between those with and without pregnancy complications. Comparisons between each of the pregnancy outcomes and the normal outcome group and between monochorionic and dichorionic pregnancies were made using the Mann-Whitney U-test for continuous variables and the chi2 test and Fisher exact test for categorical variables. The prevalence of reversed a-wave in at least one of the fetuses was significantly higher in monochorionic than in dichorionic pregnancies (18.4% compared with 8.3%, P<.001) and in pregnancies complicated by miscarriage (28.6%, P=.005), fetal aneuploidy (70.0%, P<.001), and twin-twin transfusion syndrome (38.5%, P<.001) compared with the pregnancies with two healthy live births (7.7%). Pregnancy outcome was normal in 33 of the 43 (76.7%) dichorionic and in 14 of the 33 (42.4%) monochorionic twins with reversed a-wave in at least one of the fetuses. In twins, reversed a-wave in the ductus venosus at 11 to 13 weeks of gestation is associated with increased risk for aneuploidies, miscarriage, and development of severe twin-twin transfusion syndrome. However, in about 75% of dichorionic twins and 40% of monochorionic twins with reversed a-wave, the pregnancy outcome is normal. II.

  20. Color Difference in Placentas with Twin Anemia-Polycythemia Sequence: An Additional Diagnostic Criterion?

    PubMed

    Tollenaar, Lisanne S A; Zhao, Danny P; Middeldorp, Johanna M; Slaghekke, Femke; Oepkes, Dick; Lopriore, Enrico

    2016-01-01

    To determine the color intensity difference between the 2 placental shares in monochorionic placentas with twin anemia-polycythemia sequence (TAPS). We evaluated all digital pictures of TAPS placentas examined at our center and compared them to a control group of uncomplicated monochorionic placentas. We determined the color intensity of individual placental share on the maternal side of each monochorionic placenta using an image processing program and calculated the color difference ratio (CDR). Digital pictures of 19 TAPS and 19 uncomplicated monochorionic placentas were included in this study. The TAPS group consisted of 12 spontaneous TAPS placentas (63%) and 7 post-laser TAPS placentas (37%). The median CDR in the group with TAPS was significantly higher than in the control group, 2.73 (range 1.73-6.36) versus 1.09 (range 1.00-1.35), respectively (p < 0.01). We found a positive correlation between CDR and inter-twin hemoglobin (Hb) difference in the TAPS group (R = 0.66, p < 0.01) but not in the control group (R = 0.04, p = 0.87). TAPS placentas have a significantly higher CDR compared to uncomplicated monochorionic twin placentas. Large inter-twin Hb differences in TAPS are associated with higher CDR. © 2016 The Author(s) Published by S. Karger AG, Basel.

  1. Twin study on cup/disc ratio of the optic nerve head.

    PubMed Central

    Teikari, J. M.; Airaksinen, J. P.

    1992-01-01

    Seventeen healthy twin pairs (10 monozygotic and seven dizygotic) from the Finnish Twin Cohort Study were examined to study the impact of heredity v environment in the determination of cup-to-disc area ratio. These twins were free from any known eye disease. The cup/disc ratio was determined using stereo photography and a computer assisted analysis technique. The zygosity of all twin pairs was confirmed with the DNA 'fingerprint' technique. The intrapair correlations were high among monozygotic pairs compared with those among dizygotic twin pairs. The difference of cup/disc area ratios between the right eyes of members of monozygotic twin pairs was statistically significantly smaller than that of dizygotic twin pairs (p < 0.001). The same was true for left eyes (p < 0.01). This result confirms a genetic determination in cup/disc area ratio in normal eyes. Images PMID:1390488

  2. Risk of Oral Clefts in twins

    PubMed Central

    Grosen, Dorthe; Bille, Camilla; Petersen, Inge; Skytthe, Axel; von Bornemann Hjelmborg, Jacob; Pedersen, Jacob Krabbe; Murray, Jeffrey Clark; Christensen, Kaare

    2011-01-01

    Background Small studies have indicated that twinning increases the risk of oral cleft. Methods We used data from a Danish national population-based cohort study to investigate whether twinning was associated with isolated oral cleft, and to estimate the twin probandwise concordance rate and heritability. Twins (207 affected/130,710) and singletons (7766 affected/4,798,526) born from 1936 through 2004 in Denmark were ascertained by linkage among the Danish Facial Cleft Database, the Danish Twin Registry and the Civil Registration System. We computed oral cleft prevalence and prevalence proportion ratio for twins versus singletons, stratified for three sub-phenotypes. Probandwise concordance rates and heritability for twins were estimated for two phenotypes—cleft lip with or without cleft palate (CL/P) and cleft palate (CP). Results The prevalence of oral cleft was 15.8 per 10,000 twins and 16.6 per 10,000 singletons (prevalence proportion ratio = 0.95; 95% confidence interval = 0.83 – 1.1). This prevalence was similar for monozygotic and dizygotic twins. The probandwise concordance rate was higher for CL/P for monozygotic twins than for dizygotic twins (50 % vs. 8%, respectively). A similar contrast was present for CP. Recurrence risk for both types of clefts was greater in dizygotic twins than in non-twin siblings. Heritability estimates were above 90% for both CL/P and CP. Conclusion No excess risk of oral cleft could be demonstrated for twins compared with singletons. The concordance rates and heritability estimates for both types of clefts show a strong genetic component. PMID:21423016

  3. Twin Reversed Arterial Perfusion: To Treat or Not?

    PubMed Central

    Verma, Meesha; Goel, Poonam; Punia, RPS

    2017-01-01

    Acardiac twinning or Twin Reverse Arterial Perfusion (TRAP)-sequence is a rare complication of monochorionic twin pregnancy. Whether to start elective or therapeutic treatment in TRAP-sequence is still controversial. In the present case, acardiac twin was not diagnosed till her delivery at 39 weeks. A healthy baby weighing 2.45 kg was delivered along with another amorphous mass (acardiac twin) of about 150 g which was attached to the placenta with a short and separate cord. As outcome of normal twin vary according to the growth of acardiac twin, frequent follow-up of the normal twin is required to look for the features of heart failure. Hence, the diagnosis of acardiac twin is essential in early pregnancy. PMID:28274006

  4. Twinning and heteropaternity in chimpanzees (Pan troglodytes).

    PubMed

    Ely, John J; Frels, William I; Howell, Sue; Izard, M Kay; Keeling, Michale E; Lee, D Rick

    2006-05-01

    Unlike monozygotic (MZ) twins, dizygotic (DZ) twins develop from separate ova. The resulting twins can have different sires if the fertilizing sperm comes from different males. Routine paternity testing of a pair of same-sexed chimpanzee twins born to a female housed with two males indicated that the twins were sired by two different males. DNA typing of 22 short-tandem repeat (STR) loci demonstrated that these twins were not MZ twins but heteropaternal DZ twins. Reproductive data from 1926-2002 at five domestic chimpanzee colonies, including 52 twins and two triplets in 1,865 maternities, were used to estimate total twinning rates and the MZ and DZ components. The average chimpanzee MZ twinning rate (0.43%) equaled the average human MZ rate (0.48%). However, the chimpanzee DZ twinning rate (2.36%) was over twice the human average, and higher than all but the fertility-enhanced human populations of Nigeria. Similarly high twinning rates among African chimpanzees indicated that these estimates were not artifacts of captivity. Log-linear analyses of maternal and paternal effects on recurrent twinning indicated that females who twinned previously had recurrence risks five times greater than average, while evidence for a paternal twinning effect was weak. Chimpanzee twinning rates appear to be elevated relative to corresponding estimated human rates, making twinning and possibly heteropaternity more important features of chimpanzee reproductive biology than previously recognized.

  5. Head Circumferences in Twins with and without Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Froehlich, Wendy; Cleveland, Sue; Torres, Andrea; Phillips, Jennifer; Cohen, Brianne; Torigoe, Tiffany; Miller, Janet; Fedele, Angie; Collins, Jack; Smith, Karen; Lotspeich, Linda; Croen, Lisa A.; Ozonoff, Sally; Lajonchere, Clara; Grether, Judith K.; Hallmayer, Joachim

    2013-01-01

    To determine the genetic relationship between head circumference (HC) and Autism Spectrum Disorders (ASDs). Twin pairs with at least one twin with an ASD were assessed. HCs in affected and unaffected individuals were compared, as were HC correlations in monozygotic and dizygotic pairs. 404 subjects, ages 4-18, were included. 20% of males and 27%…

  6. Variations in the Binary Conception Model in Twinning.

    ERIC Educational Resources Information Center

    Lord, Thomas R.

    1988-01-01

    Presents a brief summary of the transformation of a single fertilized ovum into a multi-celled human. Discusses the similarities and differences of identical and non-identical twins. Cites twin pairs that do not neatly fit the monozygotic or dizygotic schemes of human development. (RT)

  7. Variations in the Binary Conception Model in Twinning.

    ERIC Educational Resources Information Center

    Lord, Thomas R.

    1988-01-01

    Presents a brief summary of the transformation of a single fertilized ovum into a multi-celled human. Discusses the similarities and differences of identical and non-identical twins. Cites twin pairs that do not neatly fit the monozygotic or dizygotic schemes of human development. (RT)

  8. Head Circumferences in Twins with and without Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Froehlich, Wendy; Cleveland, Sue; Torres, Andrea; Phillips, Jennifer; Cohen, Brianne; Torigoe, Tiffany; Miller, Janet; Fedele, Angie; Collins, Jack; Smith, Karen; Lotspeich, Linda; Croen, Lisa A.; Ozonoff, Sally; Lajonchere, Clara; Grether, Judith K.; Hallmayer, Joachim

    2013-01-01

    To determine the genetic relationship between head circumference (HC) and Autism Spectrum Disorders (ASDs). Twin pairs with at least one twin with an ASD were assessed. HCs in affected and unaffected individuals were compared, as were HC correlations in monozygotic and dizygotic pairs. 404 subjects, ages 4-18, were included. 20% of males and 27%…

  9. Using Twins to Better Understand Sibling Relationships.

    PubMed

    Mark, Katharine M; Pike, Alison; Latham, Rachel M; Oliver, Bonamy R

    2017-03-01

    We compared the nature of the sibling relationship in dyads of varying genetic relatedness, employing a behavioural genetic design to estimate the contribution that genes and the environment have on this familial bond. Two samples were used-the Sisters and Brothers Study consisted of 173 families with two target non-twin children (mean ages = 7.42 and 5.22 years respectively); and the Twins, Family and Behaviour study included 234 families with two target twin children (mean age = 4.70 years). Mothers and fathers reported on their children's relationship with each other, via a postal questionnaire (the Sisters and Brothers Study) or a telephone interview (the Twins, Family and Behaviour study). Contrary to expectations, no mean level differences emerged when monozygotic twin pairs, dizygotic twin pairs, and non-twin pairs were compared on their sibling relationship quality. Behavioural genetic analyses also revealed that the sibling bond was modestly to moderately influenced by the genetic propensities of the children within the dyad, and moderately to substantially influenced by the shared environment common to both siblings. In addition, for sibling negativity, we found evidence of twin-specific environmental influence-dizygotic twins showed more reciprocity than did non-twins. Our findings have repercussions for the broader application of results from future twin-based investigations.

  10. NOTE: Increasing cardiac output and decreasing oxygenation sequence in pump twins of acardiac twin pregnancies

    NASA Astrophysics Data System (ADS)

    van Gemert, Martin J. C.; Umur, Asli; van den Wijngaard, Jeroen P. H. M.; Van Bavel, Ed; Vandenbussche, Frank P. H. A.; Nikkels, Peter G. J.

    2005-02-01

    An acardiac twin pregnancy is a rare but serious complication of monochorionic twinning and consists of an acardiac twin and a pump twin. The acardiac twin is a severely malformed fetus that lacks most organs, particularly a heart, but grows during pregnancy because it is perfused by the developmentally normal pump twin via a set of arterioarterial and venovenous placental anastomoses. Pump twins die intrauterine or neonatally in about 50% of the cases. Because the effects of an acardiac mass on the pump twin's development are incompletely known, methods for outcome prognosis are currently not available. We sought to derive simple relations for the pump twin's excess cardiac output and decreased oxygenation and to use available clinical cases for a preliminary test of the model. As a method, we used a theoretical flow model to represent the fetoplacental circulation of an acardiac twin pregnancy and estimated blood deoxygenation and reoxygenation following perfusion of the two bodies and placentas, respectively. The results show the pump twin's excess cardiac output and decrease of venous oxygen saturation to depend on the ratio of pump twin to acardiac twin umbilical blood flow, whose ratio can be measured by ultrasonography. The clinical cases show a decreasing umbilical flow ratio with gestation. In conclusion, prospective serial study is necessary to test whether measurement of umbilical flow ratios allows monitoring the pump twin's pathophysiologic development, possibly resulting in a guideline for prognosis of pump twin survival.

  11. Perinatal loss among twins.

    PubMed

    Lynch, Anne; McDuffie, Robert; Lyons, Ella; Chase, Mary; Orleans, Miriam

    2007-01-01

    We evaluated prenatal factors related to perinatal loss in twins, using medical records and death certificates, to determine the main perinatal event that contributed to babies' deaths. This was a retrospective cohort study of 550 monochorionic diamniotic or diamniotic dichorionic twins who were delivered at Kaiser Permanente Colorado between 1994 and 2001. The main outcome of the study was perinatal loss (stillbirth or neonatal death). Select maternal risk factors (maternal age, race, marital status, assisted conception, past history of preterm birth, cigarette smoking, and placentation) were included in the univariable and multivariable logistic regression analysis. Data on these risk factors came from review of records from our multiple-birth perinatal database. A comprehensive review of clinical events recorded in the medical records and on the death certificate was conducted to assess the main event that contributed to the loss. In the cohort of 1100 babies, there were 12 stillbirths and 34 neonatal deaths, with an overall frequency of perinatal loss of 4.2%. We found a strong association between a monochorionic diamniotic placentation and perinatal loss (adjusted odds ratio, 3.9; 95% confidence interval, 2, 7.7). At delivery, placental pathology and spontaneous preterm birth accounted for 36% and 41%, respectively, of the clinical events contributing to the demises. Compared with the medical record, review of death certificate information did not contribute significantly to the understanding of the sequence of perinatal events leading to the demise. We conclude that loss in twins is most strongly associated with monochorionic diamniotic placentation. Although this condition is not preventable, early identification (by ultrasound) and referral to subspecialists may decrease the chances of perinatal loss. Prevention of spontaneous preterm birth in all women remains an important initiative in obstetric care to reduce perinatal mortality and neonatal morbidity

  12. Single-twin demise: pregnancy outcome.

    PubMed

    Shek, Noel Wan Man; Hillman, Sarah C; Kilby, Mark D

    2014-02-01

    Single-twin demise can pose substantial risks for the surviving co-twin, including increased risk of fetal loss, preterm delivery, neurovascular injury, and end-organ damage. In this chapter, we summarise recently published research on the causes of single twin demise, the pathophysiology of injury to the surviving co-twin, and the evidence for current management strategies. The gestation at which single intrauterine fetal demise occurs, and the chorionicity of the multiple pregnancies, are the two most important factors when considering the risks to the surviving twin. Management should include fortnightly ultrasound scans for growth, umbilical artery Doppler studies, and liquor volume. In monochorionic twins, more complex Doppler assessment with middle cerebral artery Doppler velocimetry and a magnetic resonance imaging of the survivor's brain at least 3 weeks after single intrauterine fetal demise occurs should be carried out to look for evidence of neurological morbidity. With no other obstetric complications, dichorionic pregnancies can be delivered at term. Monochorionic pregnancies are more difficult to manage, and are often delivered between 34 and 36 weeks.

  13. Alloparenting for chimpanzee twins

    PubMed Central

    Kishimoto, Takeshi; Ando, Juko; Tatara, Seiki; Yamada, Nobuhiro; Konishi, Katsuya; Kimura, Natsuko; Fukumori, Akira; Tomonaga, Masaki

    2014-01-01

    In April 2009, a female chimpanzee named Sango, living in a captive group at the Noichi Zoo, Japan, gave birth to dizygotic male-female twin chimpanzees (male: Daiya, female: Sakura). The extent to which adult group members cared for the twins was investigated using a focal animal sampling method targeting six adults (one male) when the twin chimpanzees were two years old. Data were collected for an average of 6.78 h (SD = 0.79) per focal participant. An unaffiliated female adult of Sango was engaged in parenting Sakura as much as Sango. Given that Sakura was in lesser proximity to Sango than Daiya, Sakura's departures from her mother and her ability to gesture requests might have enabled non-kin adults to provide her care. PMID:25200656

  14. Down's syndrome in twins of unlike sex.

    PubMed Central

    Avni, A; Amir, J; Wilunsky, E; Katznelson, M B; Reisner, S H

    1983-01-01

    The occurrence of Down's syndrome in both dizygotic twins appears to be very rare. A case of twins of unlike sex is reported, in which chromosomal analysis showed trisomy 21 in both of them, while the parental karyotypes were normal. This is the third reported case of such a constellation, and the second one in which infant and parental chromosomal analysis was done. Images PMID:6221105

  15. [Twin-to-twin transfusion syndrome: diagnosis and treatment].

    PubMed

    Salomon, Laurent J; Ville, Yves

    2008-11-01

    Multiple pregnancies represent 2% of all pregnancies but account for 20% of admissions to neonatal intensive care units. The outcome of multiple pregnancies is mainly dependent on chorionicity. Most perinatal complications are 3 to 12 times more prevalent in monochorionic pregnancies. The increased mortality and morbidity in this setting are mainly related to vascular anastomoses on the chorionic plate, joining the two fetal circulations. Intrauterine death of a monochorionic twin leads to exsanguination of the survivor, with fatal outcome in 20 to 30% of cases and a similar rate of severe ischemic complications. The most severe and acute complication is the twin-to-twin transfusion syndrome (TTTS). The main clinical manifestations of TTTS are the polyuric polyhydramnios--oliguric oligohydramnios sequence in the recipient and donor twin, respectively. TTTS is associated with a perinatal mortality rate of around 90%, and neurological sequelae are present in 20-40% of survivors born at around 25 weeks. Serial amnioreduction was long the only fetal therapy for TTTS, improving the survival rate to around 50% for at least one twin delivered at around 28 weeks, and reducing the risk of sequelae to around 20% among survivors. We have developed an intrauterine fetoscopic surgical treatment for TTTS. A 2-mm endoscope and a diode laser fiber are introduced percutaneously, under local anesthesia, through a single 3-mm trocard Coagulation of feto-fetal anastomoses on the chorionic plate leads to the survival of at least one twin in around 80% of cases at 33 weeks. Fewer than 10% of survivors have sequelae, mainly related to prematurity. We conducted a randomized controlled trial that confirmed the superiority of laser therapy over amnioreduction. The long-term outlook of these infants is good, with up to 6 years of follow-up.

  16. Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX.

    PubMed

    Choi, Sun Ah; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won; Choi, Jin Sun; Oh, Sun Kyung

    2013-08-01

    Monozygotic twins, developed from a single zygote, are almost identical in clinical phenotype and concordant karyotypes. Monozygotic twins with discordant karyotypes are thought to be quite rare. Here, we report monochorionic-diamniotic twins discordant for Down syndrome. On findings of prenatal ultrasonography, nuchal translucency thickness was different between twins, and suggested that one of the twins was at high risk for having chromosomal abnormalities including Down syndrome. The twins were monochorionic-diamniotic; therefore, chorionic villi sampling of the common placenta was performed. The karyotype of the chorionic villi cells was 46,XX, and pregnancy was maintained. After delivery, dysmorphic clinical features suggesting Down syndrome were found in one of the twins, while the other twin showed a morphologically normal appearance. Karyotypes of peripheral blood leukocytes were repeatedly normal in the dysmorphic twin; however, the karyotype of skin fibroblasts from the dysmorphic twin indicated Down syndrome mosaicism; 47,XX,+21[99]/46,XX[2]. The karyotype of skin fibroblasts from the morphologically normal twin was 46,XX. Monozygosity of the twins was confirmed by a short tandem repeat analysis using 16 polymorphic markers. A mitotic nondisjunction followed by the twinning would explain the discordant karyotypes between monozygotic twins.

  17. [Intrauterine growth characteristics of twins and those twins discordant birthweight].

    PubMed

    Han, Zhen-yan; Fang, Qun; Luo, Yan-min; Hou, Hong-ying; Chen, Min-ling; He, Zhi-ming; Song, Hua-lei

    2012-05-01

    To investigate the intrauterine growth characteristics of twins and birthweight discordant twins (discordant twins). Total of 1010 twin pregnancies (2020 fetuses) with complete delivery records from the Department of Obstetrics and Gynecology, the First and Third Affiliated Hospital of SUN Yat-sen University between January 1, 2000 and July 31, 2010 were studied retrospectively. One handred and ninteen cases (238 fetuses) with intrapair birthweight difference ≥ 25% were determined as the discordant twins group, and the other 891 cases (1782 fetuses) with intrapair birthweight difference < 25% were identified as the concordant twins group. The singleton control group included 4042 singleton pregnancies in the same period. (1) Comparison of clinical data between the twins groups: the birthweight of larger-twin, smaller-twin and intrapair birthweight difference in the discordant twins group and the concordant twins group were (2090 ± 827) g, (1392 ± 592) g, (33.9 ± 9.3)%, and (2408 ± 543) g, (2191 ± 505) g, (8.9 ± 6.5)%, respectively, with significant differences (P < 0.01). The incidence of discordant twins was 11.78% (119/1010). Compared with the concordant twins group, the discordant twins group had higher proportion of monochorionic twins, and higher prevalence of pregnancy complications such as late miscarriage, abnormal umbilical insertion, twin-twin transfusion syndrome and hypertensive disorders in pregnancy (P < 0.05). (2) The characteristics of twin birthweight distribution: 1) In all the 2020 twins, 80.05% (1617/2020) fetuses had birthweight below the 50(th) percentile of the singleton control group, while 23.71% (479/2020) feeuses got birthweight below the 10(th) percentile of the singleton control group. 2) After 19(th) gestational week, the 50(th) and 90(th) percentile of all twins' birthweight were lower than those of singletons. After 38(th) gestational week, the birthweight of singletons kept increasing and reached its peak at 41(th) week

  18. Ultrasound in twin pregnancies.

    PubMed

    Morin, Lucie; Lim, Kenneth

    2011-06-01

    and normal assessment. (III) 2. There are insufficient data to recommend a routine preterm labour surveillance protocol in terms of frequency, timing, and optimal cervical length thresholds. (II-2) 3. Singleton growth curves currently provide the best predictors of adverse outcome in twins and may be used for evaluating growth abnormalities. (III) 4. It is suggested that growth discordance be defined using either a difference (20 mm) in absolute measurement in abdominal circumference or a difference of 20% in ultrasound-derived estimated fetal weight. (II-2) 5. Although there is insufficient evidence to recommend a specific schedule for ultrasound assessment of twin gestation, most experts recommend serial ultrasound assessment every 2 to 3 weeks, starting at 16 weeks of gestation for monochorionic pregnancies and every 3 to 4 weeks, starting from the anatomy scan (18 to 22 weeks) for dichorionic pregnancies. (II-1) 6. Umbilical artery Doppler may be useful in the surveillance of twin gestations when there are complications involving the placental circulation or fetal hemodynamic physiology. (II-2) 7. Although many methods of evaluating the level of amniotic fluid in twins (deepest vertical pocket, single pocket, amniotic fluid index) have been described, there is not enough evidence to suggest that one method is more predictive than the others of adverse pregnancy outcome. (II-3) 8. Referral to an appropriate high-risk pregnancy centre is indicated when complications unique to twins are suspected on ultrasound. (II-2) These complications include: 1. Twin-to-twin transfusion syndrome 2. Monoamniotic twins gestation 3. Conjoined twins 4. Twin reversed arterial perfusion sequence 5. Single fetal death in the second or third trimester 6. Growth discordance in monochorionic twins. Recommendations 1. All patients who are suspected to have a twin pregnancy on first trimester physical examination or who are at risk (e.g., pregnancies resulting from assisted reproductive

  19. Twin-twin transfusion syndrome, coarctation of the aorta and hypoplastic aortic arch: a case series report.

    PubMed

    van den Boom, Jutta; Battin, Malcolm; Hornung, Tim

    2010-03-01

    The twin-twin transfusion syndrome (TTTS) complicates 10-30% of monochorionic pregnancies. The incidence of pulmonary stenosis and endocardial fibroelastosis is especially high in the recipient twin. We report a novel finding of four cases of coarctation of the aorta and hypoplastic aortic arch in the donor to raise awareness of cardiac lesions in twins affected by TTTS. Retrospective review of both neonatal database and mortality data from 2002 to 2007 with cross-validation from the local tertiary cardiology unit data (1998-2006) to identify children presenting with coarctation who were also twins. We identified four monochorionic twin pairs affected by the TTTS, delivered between 25 weeks and 36 weeks' gestation, where the donor was found to have coarctation of the aorta or a hypoplastic aortic arch. In addition, two of the four recipients also had cardiac abnormalities. There was a high mortality rate of 30% for both twins, and a high morbidity rate, especially for neurological sequelae. We believe that the types of abnormalities seen may be explained by the altered fetal blood flow and haemodynamics in TTTS. Given the increased prevalence of congenital heart disease in TTTS, with an increased risk of coarctation in the donor twin and pulmonary stenosis in the recipient, intra-uterine surveillance and a post-natal comprehensive cardiac assessment for both twins is warranted.

  20. Association of maternal and nutrient supply line factors with DNA methylation at the imprinted IGF2/H19 locus in multiple tissues of newborn twins.

    PubMed

    Loke, Yuk Jing; Galati, John C; Morley, Ruth; Joo, Eric Ji-Hoon; Novakovic, Boris; Li, Xin; Weinrich, Blaise; Carson, Nicole; Ollikainen, Miina; Ng, Hong-Kiat; Andronikos, Roberta; Aziz, Nur Khairunnisa Abdul; Saffery, Richard; Craig, Jeffrey M

    2013-10-01

    Epigenetic events are crucial for early development, but can be influenced by environmental factors, potentially programming the genome for later adverse health outcomes. The insulin-like growth factor 2 (IGF2)/H19 locus is crucial for prenatal growth and the epigenetic state at this locus is environmentally labile. Recent studies have implicated maternal factors, including folate intake and smoking, in the regulation of DNA methylation at this locus, although data are often conflicting in the direction and magnitude of effect. Most studies have focused on single tissues and on one or two differentially-methylated regions (DMRs) regulating IGF2/H19 expression. In this study, we investigated the relationship between multiple shared and non-shared gestational/maternal factors and DNA methylation at four IGF2/H19 DMRs in five newborn cell types from 67 pairs of monozygotic and 49 pairs of dizygotic twins. Data on maternal and non-shared supply line factors were collected during the second and third trimesters of pregnancy and DNA methylation was measured via mass spectrometry using Sequenom MassArray EpiTyper analysis. Our exploratory approach showed that the site of umbilical cord insertion into the placenta in monochorionic twins has the strongest positive association with methylation in all IGF2/H19 DMRs (p<0.05). Further, evidence for tissue- and locus-specific effects were observed, emphasizing that responsiveness to environmental exposures in utero cannot be generalized across genes and tissues, potentially accounting for the lack of consistency in previous findings. Such complexity in responsiveness to environmental exposures in utero has implications for all epigenetic studies investigating the developmental origins of health and disease.

  1. Association of maternal and nutrient supply line factors with DNA methylation at the imprinted IGF2/H19 locus in multiple tissues of newborn twins

    PubMed Central

    Loke, Yuk Jing; Galati, John C; Morley, Ruth; Joo, Eric Ji-Hoon; Novakovic, Boris; Li, Xin; Weinrich, Blaise; Carson, Nicole; Ollikainen, Miina; Ng, Hong-Kiat; Andronikos, Roberta; Aziz, Nur Khairunnisa Abdul; Saffery, Richard; Craig, Jeffrey M

    2013-01-01

    Epigenetic events are crucial for early development, but can be influenced by environmental factors, potentially programming the genome for later adverse health outcomes. The insulin-like growth factor 2 (IGF2)/H19 locus is crucial for prenatal growth and the epigenetic state at this locus is environmentally labile. Recent studies have implicated maternal factors, including folate intake and smoking, in the regulation of DNA methylation at this locus, although data are often conflicting in the direction and magnitude of effect. Most studies have focused on single tissues and on one or two differentially-methylated regions (DMRs) regulating IGF2/H19 expression. In this study, we investigated the relationship between multiple shared and non-shared gestational/maternal factors and DNA methylation at four IGF2/H19 DMRs in five newborn cell types from 67 pairs of monozygotic and 49 pairs of dizygotic twins. Data on maternal and non-shared supply line factors were collected during the second and third trimesters of pregnancy and DNA methylation was measured via mass spectrometry using Sequenom MassArray EpiTyper analysis. Our exploratory approach showed that the site of umbilical cord insertion into the placenta in monochorionic twins has the strongest positive association with methylation in all IGF2/H19 DMRs (p < 0.05). Further, evidence for tissue- and locus-specific effects were observed, emphasizing that responsiveness to environmental exposures in utero cannot be generalized across genes and tissues, potentially accounting for the lack of consistency in previous findings. Such complexity in responsiveness to environmental exposures in utero has implications for all epigenetic studies investigating the developmental origins of health and disease. PMID:23917818

  2. Twin-to-Twin Transfusion Syndrome

    PubMed Central

    Mahieu-Caputo, Dominique; Dommergues, Marc; Delezoide, Anne-Lise; Lacoste, Mireille; Cai, Yi; Narcy, Françoise; Jolly, Dominique; Gonzales, Marie; Dumez, Yves; Gubler, Marie-Claire

    2000-01-01

    The twin-to-twin transfusion syndrome (TTS) results from an unbalanced blood supply through placental anastomoses in monochorionic twins. It induces growth restriction, renal tubular dysgenesis, and oliguria in the donor and visceromegaly and polyuria in the recipient. A better understanding of its pathophysiology could contribute to improving the management of TTS, which still carries a high perinatal mortality in both twins. As well as several other candidates, the renin-angiotensin system might be involved in TTS. To evaluate its role in the pathogenesis of the syndrome, we studied the kidneys of 21 twin pairs who died from TTS at 19 to 30 weeks, compared with 39 individuals in a control group, using light microscopy, immunohistochemistry, and in situ hybridization. The overexpression of the renin protein and transcript with frequent evidence of renin synthesis by mesangial cells was observed in the donor kidneys, presumably as a consequence of chronic renal hypoperfusion. This upregulation of renin synthesis might be beneficial to restore euvolemia. In severe cases of TTS, however, angiotensin-II-induced vasoconstriction acts as an additional deleterious factor by further reducing the renal blood flow in donors. In recipients, renin expression was virtually absent, possibly because it was down-regulated by hypervolemia. However, in addition to congestion and hemorrhagic infarction, there were severe glomerular and arterial lesions resembling those observed in polycythemia- or hypertension-induced microangiopathy. We speculate that fetal hypertension in the recipient might be partly mediated by the transfer of circulating renin produced by the donor, through the placental vascular shunts. PMID:10666392

  3. A Twin Study of Perthes Disease.

    PubMed

    Metcalfe, David; Van Dijck, Stephanie; Parsons, Nicolas; Christensen, Kaare; Perry, Daniel C

    2016-03-01

    Legg-Calvé-Perthes disease (LCPD) is an idiopathic avascular necrosis of the femoral head. Its etiology is poorly understood, although previous studies have implicated low birth weight and possible genetic determinants. The aim of this study was to identify potential birth weight and genetic associations with LCPD. We extracted all twin pairs from the Danish Twin Registry (DTR) in which at least 1 individual had LCPD. The DTR captures every twin pair born alive in Denmark, and those with LCPD were identified by using health record linkage. Probanwise concordance was calculated to describe the likelihood that any given individual had LCPD if their co-twin was also diagnosed. There were 81 twin pairs: 10 monozygotic, 51 dizygotic, and 20 unclassified (unknown zygosity [UZ]). There was no association between birth weight and being the affected co-twin. Four pairs (2 dizygotic and 2 UZ) were concordant for LCPD, which is greater than would be expected assuming no familial aggregation. There were no concordant monozygotic twin pairs. The overall probandwise concordance was 0.09 (95% confidence interval [CI]: 0.01-0.18): 0.00 for the monozygotic, 0.08 (95% CI: 0.00-0.18) for the dizygotic, and 0.18 (95% CI: 0.00-0.40) for the UZ twin pairs. This study found evidence of familial clustering in LCPD but did not show a genetic component. The absolute risk that a co-twin of an affected individual will develop LCPD is low, even in the case of monozygotic twin pairs. Copyright © 2016 by the American Academy of Pediatrics.

  4. 'Biracial'-Looking Twins: A New Twin Type?/Twin Research: Twins with Cystic Teratomas; Sleep Quality and Body Mass Index; Previable Membrane Rupture/Print and Online Reports: Twins Born to a Sister Surrogate; NASA Twin Study; African-Cosmopolitan Twin Fashion Inspirations; Triplet Hockey Stars.

    PubMed

    Segal, Nancy L

    2017-06-01

    Dizygotic (DZ) co-twins born to mothers and fathers from different racial or ethnic backgrounds often resemble one parent much more than the other. As such, these pairs comprise a unique subset of twins for investigating how others' responses to their different looks may affect their personalities and self-esteem. This article describes some of these twin pairs and some challenges of raising them, and suggests ways they may be used in research. Next, recent twin research on cystic teratomas, relations between sleep quality and body mass index, and previable membrane rupture is described. The final section concerns twins, twin studies, and related events in the media, namely: twins born to a sister surrogate, the NASA twin investigation, inspiring African-Cosmopolitan twins in fashion, and triplet Hockey Stars.

  5. Comparison of Naturally Conceived and IVF-DZ Twins in the Netherlands Twin Registry: A Developmental Study

    PubMed Central

    van Beijsterveldt, Catharina E. M.; Bartels, Meike; Boomsma, Dorret I.

    2011-01-01

    In a large set of twin pairs, we compared twins born after IVF to naturally conceived twins with respect to birth characteristics, growth, attainment of motor milestones, and emotional and behavioral problems. Twin families were registered with the Netherlands Twin Register. We included 1534 dizygotic (DZ) twins born after IVF, 5315 naturally conceived (NC) DZ twins, and 1504 control NC DZ twins who were matched to the IVF twins based on maternal age, maternal educational level, smoking during pregnancy, gestational age, and offspring sex. Data were obtained by longitudinal surveys sent to fathers, mothers, and teachers at ages 1, 2, 3, 7, 10, and 12 years. Results showed no differences in growth, in attainment of motor milestones, and in behavioral development between IVF and matched NC twins. It can be concluded that for nearly all aspects, development in IVF and NC children is similar. PMID:22132337

  6. [Perinatal management of twins with discordant congenital defects].

    PubMed

    Yu, Hai-yan; Xing, Ai-yun; You, Yong; Liu, Xing-hui; Wang, Xiao-dong

    2014-11-01

    To review the outcomes of perinatal management of twins with discordant congenital defects. We retrospectively examined the cases of twins with discordant congenital defects treated in the West China Second University Hospital from December 2011 to December 2013. There were 26 cases of twins (14 dichorionic and 12 monochorionic) with one anomalous fetus. Of those twins, 16 were conceived by nature and 10 by in vitro fertilization and embryo tansfer (IVF-ET). Counselling services were offered to the parents by a multidisciplinary team about options of pregnancy. Termination of pregnancy was chosen on three monochorionic twins. Twelve pairs of twin were delivered at 26(+3)-37(+6) weeks gestation. One pair ended with neonatal death, and another one with gastroschisis was given intrapartum fetal operation. Selective termination was chosen on 11 cases using intracardiac injection of potassium chloride under ultrasonographic guidance (9 cases) or bipolar cord coagulation (2 cases). This resulted in ten live births delivered at 25(+5)-38(+4) gustation and one neonatal death. Early diagnosis of twins with discordant congenital defects is important. Multidisciplinary counselling services to parents are recommended for determination of options. Intensive prenatal care is essential in management of twins with discordant congenital defects.

  7. Aortic and pulmonary artery calcification: An unusual manifestation of twin-to-twin transfusion syndrome

    PubMed Central

    Venkatesh, Sumitra; Sanyukta, J; Jain, S; Prabhu, SS; Kulkarni, S

    2017-01-01

    Twin-to-twin transfusion syndrome (TTTS) at times complicates monochorionic twin gestations, resulting in conditions ranging from discordant sizes to fetal demise of one baby. Various types of cardiac defects have been described in the recipient twin of this syndrome. Isolated great artery calcification, i.e. aortic and pulmonary artery calcification is one such uncommon condition associated with TTTS. Calcification of the walls of great vessels may be due to chronic vascular injury sustained as a result of circulatory volume overload in the recipient twin. It may also cause severe systemic hypertension and cardiomyopathy. An accurate diagnosis is important for an optimal follow-up and appropriate genetic counseling. We report a case of aortic and pulmonary artery calcification in association with TTTS. PMID:28163434

  8. Aortic and pulmonary artery calcification: An unusual manifestation of twin-to-twin transfusion syndrome.

    PubMed

    Venkatesh, Sumitra; Sanyukta, J; Jain, S; Prabhu, S S; Kulkarni, S

    2017-01-01

    Twin-to-twin transfusion syndrome (TTTS) at times complicates monochorionic twin gestations, resulting in conditions ranging from discordant sizes to fetal demise of one baby. Various types of cardiac defects have been described in the recipient twin of this syndrome. Isolated great artery calcification, i.e. aortic and pulmonary artery calcification is one such uncommon condition associated with TTTS. Calcification of the walls of great vessels may be due to chronic vascular injury sustained as a result of circulatory volume overload in the recipient twin. It may also cause severe systemic hypertension and cardiomyopathy. An accurate diagnosis is important for an optimal follow-up and appropriate genetic counseling. We report a case of aortic and pulmonary artery calcification in association with TTTS.

  9. The effect of chorionicity and twin-to-twin delivery time interval on short-term outcome of the second twin.

    PubMed

    Hjortø, Sofie; Nickelsen, Carsten; Petersen, Janne; Secher, Niels Jørgen

    2014-01-01

    To investigate the effect of chorionicity and twin-to-twin delivery time interval on short-term outcome in the second twin as well as to investigate the predictors of adverse outcome in both twins. Data included vaginally delivered twins (≥36 weeks) from Copenhagen University Hospitals (2001-2009). The association between delivery interval and adverse outcome parameters was compared for monochorionic (MC) and dichorionic (DC) twins by multiple linear regression. Predictors were studied by logistic regression. There were 554 twin pairs, of which 57 were MC and 485 DC. We found no difference in the decrease of pH (p = 0.912) and Apgar (p = 0.609) in relation to increasing time interval. Neonatal unit (NICU) admissions did not differ (p = 0.167). Apgar ≤7 (p < 0.001) and pH ≤ 7.20 (p = 0.002) increased first twin risk of NICU admission, whereas first (p = 0.001) or second (p < 0.001) twin Apgar ≤7 and second twin pH ≤7.00 (p = 0.003) increased second twin risk of NICU admission. Increasing delivery interval was associated with a significant decrease in pH and Apgar, but there was no difference between MC and DC twins. Low Apgar of the first twin increased the risk of second twin NICU admission.

  10. Development of customized fetal growth charts in twins.

    PubMed

    Ghi, Tullio; Prefumo, Federico; Fichera, Anna; Lanna, Mariano; Periti, Enrico; Persico, Nicola; Viora, Elsa; Rizzo, Giuseppe

    2017-05-01

    Twin gestations are at significantly higher risk of fetal growth restriction in comparison with singletons. Using fetal biometric charts customized for obstetrical and parental characteristics may facilitate an accurate assessment of fetal growth. The objective of the study was to construct reference charts for the gestation of fetal biometric parameters stratified by chorionicity and customized for obstetrical and parental characteristics. Fetal biometric measurements obtained from serial ultrasound examinations in uncomplicated twin pregnancies delivering after 36 weeks of gestation were collected by 19 Italian fetal medicine units under the auspices of the Società Italiana di Ecografia Ostetrica e Ginecologica. The measurements acquired in each fetus at each examination included biparietal diameter, head circumference, abdominal circumference, and femur length. Multilevel linear regression models were used to adjust for the serial ultrasonographic measurements obtained and the clustering of each fetus in twin pregnancy. The impact of maternal and paternal characteristics (height, weight, ethnicity), parity, fetal sex, and mode of conception was also considered. Models for each parameter were stratified by fetal chorionicity and compared with our previously constructed growth curves for singletons. The data set included 1781 twin pregnancies (dichorionic, n = 1289; monochorionic diamniotic, n = 492) with 8923 ultrasonographic examinations with a median of 5 (range, 2-8) observations per pregnancy in dichorionic and 6 in (range, 2-11) monochorionic pregnancies. Growth curves of twin pregnancies differed from those of singletons, and differences were more marked in monochorionic twins and during the third trimester. A significant influence of parental characteristics was found. Curves of fetal biometric measurements in twins are influenced by parental characteristics. There is a reduction in the growth rate during the third trimester. The reference limits for

  11. Can color difference on the maternal side of the placenta distinguish between acute peripartum twin-twin transfusion syndrome and twin anemia-polycythemia sequence?

    PubMed

    Tollenaar, Lisanne S A; Zhao, Danny P; Middeldorp, Johanna M; Oepkes, Dick; Slaghekke, Femke; Lopriore, Enrico

    2017-09-01

    To investigate the color difference between two placental shares in monochorionic placentas with acute peripartum twin-twin transfusion syndrome (TTTS) and twin anemia-polycythemia sequence (TAPS). We evaluated all digital pictures of TAPS, acute peripartum TTTS and a control group of uncomplicated monochorionic placentas examined at our center. We determined the color intensity of the individual placental share on the maternal side of each monochorionic placenta using an image-processing program and calculated the color difference ratio (CDR). Digital pictures of 5 acute peripartum TTTS, 25 TAPS and 54 control group placentas were included in this study. The median CDR in acute peripartum TTTS was significantly lower compared to TAPS placentas, 1.20 (inter-quartile range (IQR) 1.05-1.20) and 2.50 (IQR 1.85-3.34), respectively (p < 0.01), and was comparable to the control group (CDR 1.11, IQR 1.05-1.22). TAPS placentas have a higher CDR compared to acute peripartum TTTS placentas. Examining color difference on the maternal side of the placenta might help distinguish between acute peripartum TTTS and TAPS. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. Dogs Discriminate Identical Twins

    PubMed Central

    Pinc, Ludvík; Bartoš, Luděk; Reslová, Alice; Kotrba, Radim

    2011-01-01

    Earlier studies have shown variation among experimental attempts to establish whether human monozygotic twins that are genetically identical also have identical individual scents. In none of the cases were the dogs able to distinguish all the individual scents of monozygotic twins living in the same environment if the scents were presented to them separately. Ten specially trained police German Shepherd dogs of three Czech Republic Police Regional Headquarters were used for scent identification in our study. The dogs were supposed to match scents of two monozygotic pairs (5 and 7 years old) and two dizygotic twin pairs (8 and 13 years old). Scents were collected on cotton squares stored in glass jars. Dog handlers were blind to the experiment details. In each trial (line-up), one scent was used as a starting scent and the dog was then sent to determine if any of the 7 presented glass jars contained a matching scent. Scents of children of similar ages were used as distractors. In the matching procedure, the dogs matched correctly the scent of one twin with the other, as well as two scents collected from every single identical and non-identical twin to prove their efficacy and likewise, the presence of the matching twin scent in any given glass jar. All dogs in all trials distinguished correctly the scents of identical as well as non-identical twins. All dogs similarly matched positively two scents collected from the same individuals. Our findings indicated that specially trained German Shepherd dogs are able to distinguish individual scents of identical twins despite the fact that they live in the same environment, eat the same food and even if the scents are not presented to them simultaneously. PMID:21698282

  13. First trimester risk assessment for trisomy 21 in twin pregnancies combining nuchal translucency and first trimester biochemical markers.

    PubMed

    Prats, Pilar; Rodríguez, Ignacio; Comas, Carmina; Puerto, Bienvenido

    2012-10-01

    The aim is to describe the performance of first-trimester combined risk assessment in twin pregnancies. Maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma protein A (PAPP-A) were determined at 8 to 12 weeks and fetal nuchal translucency (NT) was measured at 11 to 13+6 weeks. The individual risk was estimated for each fetus using the combined test in dichorionic twins. In monochorionic twins, the mean risk assessment of the two fetuses was used. An invasive diagnostic procedure was offered when the risk was ≥ 1 : 270 in either one of the fetuses. From February 2007 to June 2011, 447 twin pregnancies were enrolled in this study. There were 402 (89.9%) dichorionic and 45 (10.1%) monochorionic twins. In dichorionic twins, mean crown-rump length (CRL) was 63.9 mm; median NT multiples of the median (MoM) was 0.97; median Β-hCG was MoM 1.74; median PAPP-A was 1.72. In monochorionic twins, mean CRL was 61.9 mm; median NT MoM was 0. 98; median Β-hCG MoM was 1.44; and median PAPP-A was 1.51. Two pregnancies with Down syndrome were detected by first trimester screening, both in dichorionic twins. The false positive rate was 5.7% (95% confidence interval 4.1-7.3) and 4.4% (95% confidence interval 0.1-8.8%) in dichorionic and monochorionic twins, respectively. The combined test in twins appears to be a good method for Down syndrome screening with a high detection rate and an acceptable false-positive rate. © 2012 John Wiley & Sons, Ltd.

  14. Twin Study on Heritability of Activity, Attention, and Impulsivity as Assessed by Objective Measures

    ERIC Educational Resources Information Center

    Heiser, Philip; Heinzel-Gutenbrunner, Monika; Frey, Joachim; Smidt, Judith; Grabarkiewicz, Justyna; Friedel, Susann; Kuhnau, Wolfgang; Schmidtke, Jorg; Remschmidt, Helmut; Hebebrand, Johannes

    2006-01-01

    Objective: The purpose of this study was to assess heritability of activity, attention, and impulsivity by comparing young monozygotic (MZ) twins with dizygotic (DZ) twins using objective measures. Method: The OPTAx test is an infrared motion analysis to record the movement pattern during a continuous performance test. Seventeen MZ and 12 same…

  15. Brief Report: On the Concordance Percentages for Autistic Spectrum Disorder of Twins

    ERIC Educational Resources Information Center

    Bohm, Henry V.; Stewart, Melbourne G.

    2009-01-01

    In the development of genetic theories of Autistic Spectrum Disorder (ASD) various characteristics of monozygotic (MZ) and dizygotic (DZ) twins are often considered. This paper sets forth a possible refinement in the interpretation of the MZ twin concordance percentages for ASD underlying such genetic theories, and, drawing the consequences from…

  16. Communicative Development in Twins with Discordant Histories of Recurrent Otitis Media.

    ERIC Educational Resources Information Center

    Hemmer, Virginia Hoey; Ratner, Nan Bernstein

    1994-01-01

    The communicative abilities of six sets of same-sex, preschool dizygotic twins were examined. In each dyad, one sibling had a strong history of recurrent otitis media (ROM) but the other twin did not. History of ROM was associated with lowered receptive vocabulary, with no consistent effects detected in expressive speech and language tasks.…

  17. Twin Study on Heritability of Activity, Attention, and Impulsivity as Assessed by Objective Measures

    ERIC Educational Resources Information Center

    Heiser, Philip; Heinzel-Gutenbrunner, Monika; Frey, Joachim; Smidt, Judith; Grabarkiewicz, Justyna; Friedel, Susann; Kuhnau, Wolfgang; Schmidtke, Jorg; Remschmidt, Helmut; Hebebrand, Johannes

    2006-01-01

    Objective: The purpose of this study was to assess heritability of activity, attention, and impulsivity by comparing young monozygotic (MZ) twins with dizygotic (DZ) twins using objective measures. Method: The OPTAx test is an infrared motion analysis to record the movement pattern during a continuous performance test. Seventeen MZ and 12 same…

  18. Communicative Development in Twins with Discordant Histories of Recurrent Otitis Media.

    ERIC Educational Resources Information Center

    Hemmer, Virginia Hoey; Ratner, Nan Bernstein

    1994-01-01

    The communicative abilities of six sets of same-sex, preschool dizygotic twins were examined. In each dyad, one sibling had a strong history of recurrent otitis media (ROM) but the other twin did not. History of ROM was associated with lowered receptive vocabulary, with no consistent effects detected in expressive speech and language tasks.…

  19. Brief Report: On the Concordance Percentages for Autistic Spectrum Disorder of Twins

    ERIC Educational Resources Information Center

    Bohm, Henry V.; Stewart, Melbourne G.

    2009-01-01

    In the development of genetic theories of Autistic Spectrum Disorder (ASD) various characteristics of monozygotic (MZ) and dizygotic (DZ) twins are often considered. This paper sets forth a possible refinement in the interpretation of the MZ twin concordance percentages for ASD underlying such genetic theories, and, drawing the consequences from…

  20. Unraveling Genetic and Environmental Components of Early Literacy: A Twin Study

    ERIC Educational Resources Information Center

    Bus, A. G.; Out, D.

    2009-01-01

    Even though the acquisition of early literacy skills obviously depends on stimuli and incentives in children's environment we may expect that genes define the constraints for acquiring some or all early literacy skills. Therefore behavior genetic analyses were carried out on twin data including 27 identical and 39 same sex dizygotic twins, 4 years…

  1. Screening for trisomy 21 in twin pregnancies in the first trimester: does chorionicity impact on maternal serum free beta-hCG or PAPP-A levels?

    PubMed

    Spencer, K

    2001-09-01

    In a study of 180 twin pregnancies I have examined the distribution of maternal serum free beta-human chorionic gonadotrophin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A), in addition to fetal nuchal translucency thickness (NT), in twins classified as monochorionic or dichorionic, based on ultrasound appearance at 10-14 weeks of gestation. In 45 monochorionic and 135 dichorionic twin pregnancies the median MoM free beta-hCG was not significantly different (1.00 vs 1.01), whilst that for PAPP-A was lower (0.89 vs 1.01) but again with no statistical significance. Previous reports of an increased fetal NT in monochorionic twins pregnancies could not be confirmed (1.03 vs 1.00). It is concluded that the existing pseudo risk twin correction algorithm is appropriate for both monochorionic and dichorionic twins in providing accurate first trimester risks for trisomy 21. Copyright 2001 John Wiley & Sons, Ltd.

  2. Utilizing twins as controls for non-twin case-materials in genome wide association studies.

    PubMed

    Ganna, Andrea; Ortega-Alonso, Alfredo; Havulinna, Aki; Salomaa, Veikko; Kaprio, Jaakko; Pedersen, Nancy L; Sullivan, Patrick F; Ingelsson, Erik; Hultman, Christina M; Magnusson, Patrik K E

    2013-01-01

    Twin registries around the globe have collected DNA samples from large numbers of monozygotic and dizygotic twins. The twin sample collections are frequently used as controls in disease-specific studies together with non-twins. This approach is unbiased under the hypothesis that twins and singletons are comparable in terms of allele frequencies; i.e. there are no genetic variants associated with being a twin per se. To test this hypothesis we performed a genome-wide association study comparing the allele frequency of 572,352 single nucleotide polymorphisms (SNPs) in 1,413 monozygotic (MZ) and 5,451 dizygotic (DZ) twins with 3,720 healthy singletons. Twins and singletons have been genotyped using the same platform. SNPs showing association with being a twin at P-value < 1 × 10(-5) were selected for replication analysis in 1,492 twins (463 MZ and 1,029 DZ) and 1,880 singletons from Finland. No SNPs reached genome-wide significance (P-value < 5 × 10(-8)) in the main analysis combining MZ and DZ twins. In a secondary analysis including only DZ twins two SNPs (rs2033541 close to ADAMTSL1 and rs4149283 close to ABCA1) were genome-wide significant after meta-analysis with the Finnish population. The estimated proportion of variance on the liability scale explained by all SNPs was 0.08 (P-value=0.003) when MZ and DZ were considered together and smaller for MZ (0.06, P-value=0.10) compared to DZ (0.09, P-value=0.003) when analyzed separately. In conclusion, twins and singletons can be used in genetic studies together with general population samples without introducing large bias. Further research is needed to explore genetic variances associated with DZ twinning.

  3. Prenatal diagnosis of spontaneous twin anemia-polycythemia sequence and postnatal examination of placental vascular anastomoses

    PubMed Central

    Bae, Jin Young; Oh, Jin Ju

    2016-01-01

    Twin anemia-polycythemia sequence (TAPS) is characterized by a wide discrepancy of hemoglobin between two monochorionic fetuses without sign of twin oligo-polyhydramnios sequence. A primiparous woman with monochorionic diamniotic twin transferred for preterm labor. Ultrasonographic evaluation at 32+3 weeks of gestation revealed increased middle cerebral artery-peak systolic velocity (77.4 cm/sec, 1.69 multiples of median) in donor and decreased in recipient twin (36.4 cm/sec, 0.79 multiples of median), the twin was diagnosed with TAPS. Repeated cesarean section was performed at 32+5 weeks of gestation following preeclampsia and preterm labor. After delivery, TAPS was confirmed through neonatal hematologic examination. There were no signs of acute hemorrhagic shock or brain injury. Placental evaluation via dye infusion and barium angiogram revealed one arterioarterial anastomoses with six arteriovenous anastomoses of placenta. We report a prenatally diagnosed case of spontaneous TAPS with arterioarterial and arteriovenous anastomoses and suggest careful monitoring of monochorionic twin and opinion on placenta vascular architecture. PMID:27896259

  4. Monozygotic twinning: an evolutionary hypothesis.

    PubMed Central

    Gleeson, S K; Clark, A B; Dugatkin, L A

    1994-01-01

    Monozygotic twinning is rare within populations yet taxonomically widespread. We explore the evolution of monozygotic twinning by modeling an allele in a newly formed offspring that causes it to undergo mitosis and separation to form one or more clones (twins), potentially in conflict with the parents' best interest. The success of this twinning allele in our haploid models depends on the balance of the benefit of increased frequency in the clutch and the cost of reduced survival resulting from limited parental resources. The trait reaches high frequency in a broad range of plausible conditions but also fails to spread or is kept at low frequency in others when the survival cost is high (e.g., in small clutch sizes). Interestingly, there are two reasonable conditions that predict high frequency of the trait but low visibility: random parental abortion and selection for low penetrance. Thus our models suggest reasons why monozygotic twinning might be rare, or alternatively, be common yet appear rare. In addition, we discuss the implications for sex-linked twinning, dizygotic twinning, and twinning by gametes. Images PMID:7972065

  5. Prospective risk of stillbirth and neonatal complications in twin pregnancies: systematic review and meta-analysis.

    PubMed

    Cheong-See, Fiona; Schuit, Ewoud; Arroyo-Manzano, David; Khalil, Asma; Barrett, Jon; Joseph, K S; Asztalos, Elizabeth; Hack, Karien; Lewi, Liesbeth; Lim, Arianne; Liem, Sophie; Norman, Jane E; Morrison, John; Combs, C Andrew; Garite, Thomas J; Maurel, Kimberly; Serra, Vicente; Perales, Alfredo; Rode, Line; Worda, Katharina; Nassar, Anwar; Aboulghar, Mona; Rouse, Dwight; Thom, Elizabeth; Breathnach, Fionnuala; Nakayama, Soichiro; Russo, Francesca Maria; Robinson, Julian N; Dodd, Jodie M; Newman, Roger B; Bhattacharya, Sohinee; Tang, Selphee; Mol, Ben Willem J; Zamora, Javier; Thilaganathan, Basky; Thangaratinam, Shakila

    2016-09-06

    To determine the risks of stillbirth and neonatal complications by gestational age in uncomplicated monochorionic and dichorionic twin pregnancies. Systematic review and meta-analysis. Medline, Embase, and Cochrane databases (until December 2015). Databases were searched without language restrictions for studies of women with uncomplicated twin pregnancies that reported rates of stillbirth and neonatal outcomes at various gestational ages. Pregnancies with unclear chorionicity, monoamnionicity, and twin to twin transfusion syndrome were excluded. Meta-analyses of observational studies and cohorts nested within randomised studies were undertaken. Prospective risk of stillbirth was computed for each study at a given week of gestation and compared with the risk of neonatal death among deliveries in the same week. Gestational age specific differences in risk were estimated for stillbirths and neonatal deaths in monochorionic and dichorionic twin pregnancies after 34 weeks' gestation. 32 studies (29 685 dichorionic, 5486 monochorionic pregnancies) were included. In dichorionic twin pregnancies beyond 34 weeks (15 studies, 17 830 pregnancies), the prospective weekly risk of stillbirths from expectant management and the risk of neonatal death from delivery were balanced at 37 weeks' gestation (risk difference 1.2/1000, 95% confidence interval -1.3 to 3.6; I(2)=0%). Delay in delivery by a week (to 38 weeks) led to an additional 8.8 perinatal deaths per 1000 pregnancies (95% confidence interval 3.6 to 14.0/1000; I(2)=0%) compared with the previous week. In monochorionic pregnancies beyond 34 weeks (13 studies, 2149 pregnancies), there was a trend towards an increase in stillbirths compared with neonatal deaths after 36 weeks, with an additional 2.5 per 1000 perinatal deaths, which was not significant (-12.4 to 17.4/1000; I(2)=0%). The rates of neonatal morbidity showed a consistent reduction with increasing gestational age in monochorionic and dichorionic pregnancies

  6. Prospective risk of stillbirth and neonatal complications in twin pregnancies: systematic review and meta-analysis

    PubMed Central

    Cheong-See, Fiona; Schuit, Ewoud; Arroyo-Manzano, David; Khalil, Asma; Barrett, Jon; Joseph, K S; Asztalos, Elizabeth; Hack, Karien; Lewi, Liesbeth; Lim, Arianne; Liem, Sophie; Norman, Jane E; Morrison, John; Combs, C Andrew; Garite, Thomas J; Maurel, Kimberly; Serra, Vicente; Perales, Alfredo; Rode, Line; Worda, Katharina; Nassar, Anwar; Aboulghar, Mona; Rouse, Dwight; Thom, Elizabeth; Breathnach, Fionnuala; Nakayama, Soichiro; Russo, Francesca Maria; Robinson, Julian N; Dodd, Jodie M; Newman, Roger B; Bhattacharya, Sohinee; Tang, Selphee; Mol, Ben Willem J; Thilaganathan, Basky; Thangaratinam, Shakila

    2016-01-01

    Objective To determine the risks of stillbirth and neonatal complications by gestational age in uncomplicated monochorionic and dichorionic twin pregnancies. Design Systematic review and meta-analysis. Data sources Medline, Embase, and Cochrane databases (until December 2015). Review methods Databases were searched without language restrictions for studies of women with uncomplicated twin pregnancies that reported rates of stillbirth and neonatal outcomes at various gestational ages. Pregnancies with unclear chorionicity, monoamnionicity, and twin to twin transfusion syndrome were excluded. Meta-analyses of observational studies and cohorts nested within randomised studies were undertaken. Prospective risk of stillbirth was computed for each study at a given week of gestation and compared with the risk of neonatal death among deliveries in the same week. Gestational age specific differences in risk were estimated for stillbirths and neonatal deaths in monochorionic and dichorionic twin pregnancies after 34 weeks’ gestation. Results 32 studies (29 685 dichorionic, 5486 monochorionic pregnancies) were included. In dichorionic twin pregnancies beyond 34 weeks (15 studies, 17 830 pregnancies), the prospective weekly risk of stillbirths from expectant management and the risk of neonatal death from delivery were balanced at 37 weeks’ gestation (risk difference 1.2/1000, 95% confidence interval −1.3 to 3.6; I2=0%). Delay in delivery by a week (to 38 weeks) led to an additional 8.8 perinatal deaths per 1000 pregnancies (95% confidence interval 3.6 to 14.0/1000; I2=0%) compared with the previous week. In monochorionic pregnancies beyond 34 weeks (13 studies, 2149 pregnancies), there was a trend towards an increase in stillbirths compared with neonatal deaths after 36 weeks, with an additional 2.5 per 1000 perinatal deaths, which was not significant (−12.4 to 17.4/1000; I2=0%). The rates of neonatal morbidity showed a consistent reduction with increasing

  7. NOTE: Thrombosis of anastomoses may affect the staging sequence of twin twin transfusion syndrome

    NASA Astrophysics Data System (ADS)

    van den Wijngaard, Jeroen P. H. M.; Ross, Michael G.; van Gemert, Martin J. C.

    2008-03-01

    Twin-twin transfusion syndrome (TTTS) is a severe complication of monozygotic (identical) twins, which share one single monochorionic placenta. It is caused by placental anastomoses which link the two fetoplacental circulations of the twins and allow a chronic net inter-twin transfusion to develop between the fetuses. Clinical presentation of TTTS manifestations has been classified into five different stages. In this paper, we used our computational model of TTTS and examined the possible differences between chronic and rapidly increasing inter-twin transfusion in the simulated TTTS staging sequence. Our results suggest that rapid alterations in the net inter-twin transfusion, e.g. due to thrombosis of placental anastomoses, may produce a different staging sequence than in TTTS caused by chronic inter-twin transfusion. These results may aid an improved knowledge of TTTS pathophysiology under conditions of a rapidly changing cardiovascular function, and contribute to the planning of optimal intervention under such circumstances. Supported in part by the European Community Euro-twin-2-twin project (JPHMvdW) and by the National Institutes of Health, grant HL40899 (MGR).

  8. Twin-twin transfusion syndrome presenting as polyhydramnios in both fetuses secondary to spontaneous microseptostomy.

    PubMed

    Hackney, David N; Khalek, Nahla; Moldenhauer, Julie; Ozcan, Tulin

    2013-10-01

    The presence of polyhydramnios and oligohydramnios is pathognomonic for twin-twin transfusion syndrome (TTTS). However, polyhydramnios of both twins can exist in TTTS in the setting of a septostomy of the dividing membrane. In prior reported cases of dual polyhydramnios TTTS, the septostomy was identified through either ultrasound or fetoscopy thus helping to establish the diagnosis of TTTS with an unusual presentation. The presented case is a set of monochorionic, diamniotic twins who presented initially with dual polyhydramnios. Subsequent ultrasound and clinical and pathologic findings were otherwise consistent with TTTS. Unlike prior reported cases, a septostomy of the dividing membrane was never identified with ultrasound or even on post delivery placental examination. However, microseptostomies were demonstrated due to the transfer of indigo carmine between the amniotic sacs at amniocentesis. Thus in the setting of TTTS concern, the diagnosis should be considered with dual polyhydramnios even if a septostomy cannot be identified.

  9. Birth weight centiles by gestational age for twins born in south India.

    PubMed

    Premkumar, Prasanna; Antonisamy, Belavendra; Mathews, Jiji; Benjamin, Santhosh; Regi, Annie; Jose, Ruby; Kuruvilla, Anil; Mathai, Mathews

    2016-03-24

    Birth weight centile curves are commonly used as a screening tool and to assess the position of a newborn on a given reference distribution. Birth weight of twins are known to be less than those of comparable singletons and twin-specific birth weight centile curves are recommended for use. In this study, we aim to construct gestational age specific birth weight centile curves for twins born in south India. The study was conducted at the Christian Medical College, Vellore, south India. The birth records of all consecutive pregnancies resulting in twin births between 1991 and 2005 were reviewed. Only live twin births between 24 and 42 weeks of gestation were included. Birth weight centiles for gestational age were obtained using the methodology of generalized additive models for location, scale and shape (GAMLSS). Centiles curves were obtained separately for monochorionic and dichorionic twins. Of 1530 twin pregnancies delivered during the study period (1991-2005), 1304 were included in the analysis. The median gestational age at birth was 36 weeks (1st quartile 34, 3rd quartile 38 weeks). Smoothed percentile curves for birth weight by gestational age increased progressively till 38 weeks and levels off thereafter. Compared with dichorionic twins, monochorionic twins had lower birth weight for gestational age from after 27 weeks. We provide centile values of birth weight at 24 to 42 completed weeks of gestation for twins born in south India. These charts could be used both in routine clinical assessments and epidemiological studies.

  10. Gestational age in twins.

    PubMed Central

    James, W H

    1980-01-01

    Dubowitz et al. have offered a scoring system for estimating the gestational age of newborn babies. If the system is applied to twin pairs, the heavier twin is generally estimated to have a greater gestational age than the lighter one. Previously this has been interpreted as a flaw in the scoring system. However, it may well be that in some twin pairs the gestational ages are slightly different and that therefore, the heavier twin would be expected to have a greater gestational age. Such cases would arise through superfecundation (the formation of two zygotes from different coitions). Superfecundation can be proved only in rare case (those with two fathers). It can be argued that the rarity of such cases is accounted for by the rarity with which women expose themselves to the risk of bearing such twins (and by the improbability of detection), rather than by the rarity of superfecundation. It is inferred that superfecundation by the same man is relatively common and that therefore dizygotic twins quite often have different gestational ages. The scoring system of Dubowitz can be tested for bias by submitting monozygotic pairs to it: the association between weight and estimated gestational age should be absent in such pairs. If the system proves free of such bias, then a finding first reported here will assume some interest: it is that in opposite-sexed twin pairs, the male is significantly more often assessed as having the greater gestational age. It is suggested that this finding should be provisionally accepted as evidence for the hyopthesis that male zygotes are formed earlier than females. PMID:7191240

  11. Twins: A cloning experience.

    PubMed

    Prainsack, Barbara; Spector, Tim D

    2006-11-01

    Drawing upon qualitative interviews with monozygotic (identical) twins sharing 100% of their genes, and with dizygotic (fraternal) twins and singletons as control groups, this paper explores what it means to be genetically identical. (The twins interviewed were from the TwinsUK register in London.) In the context of the ongoing debate on human reproductive cloning, it examines questions such as: To what extent do identical twins perceive their emotional and physical bond to be a result of their genetic makeup? What would they think if they had been deliberately created genetically identical? How would they feel about being genetically identical to a person who was born a few years earlier or later? First, our respondents ascribed no great significance to the role of genes in their understanding of what it means to be identical twins. Second, the opinion that human reproductive cloning would "interfere with nature", or "contradict God's will", was expressed by our respondents exclusively on the abstract level. The more our respondents were able to relate a particular invented cloning scenario to their own life-worlds, the lower the prevalence of the argument. Third, for all three groups of respondents, the scenario of having been born in one of the other groups was perceived as strange. Fourth, the aspect that our respondents disliked about cloning scenarios was the potential motives of the cloners. Without equating monozygotic twins directly with "clones", these results from "naturally" genetically identical individuals add a new dimension to what a future cloning situation could entail: The cloned person might possibly (a) perceive a close physical and emotional connection to the progenitor as a blessing; (b) suffer from preconceptions of people who regard physical likeness as a sign of incomplete individuality; and (c) perceive the idea of not having been born a clone of a particular person as unpleasant.

  12. Peer Network Overlap in Twin, Sibling, and Friend Dyads

    ERIC Educational Resources Information Center

    McGuire, Shirley; Segal, Nancy L.

    2013-01-01

    Research suggests that sibling–peer connections are important for understanding adolescent problem behaviors. Using a novel behavioral genetic design, the current study investigated peer network overlap in 300 child–child pairs (aged 7-13 years) in 5 dyad types: monozygotic (MZ), dizygotic twins, full siblings (FSs), friend pairs, and virtual…

  13. Peer Network Overlap in Twin, Sibling, and Friend Dyads

    ERIC Educational Resources Information Center

    McGuire, Shirley; Segal, Nancy L.

    2013-01-01

    Research suggests that sibling–peer connections are important for understanding adolescent problem behaviors. Using a novel behavioral genetic design, the current study investigated peer network overlap in 300 child–child pairs (aged 7-13 years) in 5 dyad types: monozygotic (MZ), dizygotic twins, full siblings (FSs), friend pairs, and virtual…

  14. Twin-to-twin transfusion syndrome: an anti-angiogenic state?

    PubMed Central

    KUSANOVIC, Juan Pedro; ROMERO, Roberto; ESPINOZA, Jimmy; NIEN, Jyh Kae; KIM, Chong Jai; MITTAL, Pooja; EDWIN, Sam; EREZ, Offer; GOTSCH, Francesca; MAZAKI-TOVI, Shali; THAN, Nandor G.; SOTO, Eleazar; CAMACHO, Natalia; GOMEZ, Ricardo; QUINTERO, Ruben; HASSAN, Sonia S.

    2008-01-01

    Objective An imbalanced chronic blood flow between the donor and recipient twin through placental vascular anastomoses is the accepted pathophysiology of twin-to-twin transfusion syndrome (TTTS). Vascular endothelial growth factor receptor-1 (VEGFR-1) mRNA is overexpressed only in the syncytiotrophoblast of the donor twin in some cases of TTTS. This study was conducted to determine maternal plasma concentrations of placental growth factor (PlGF), soluble VEGFR-1, and soluble endoglin (s-Eng) in monochorionic-diamniotic pregnancies with and without TTTS. Study design This case-control study included monochorionic-diamniotic pregnancies between 16–26 weeks with and without TTTS. Maternal plasma concentrations of PlGF, sVEGFR-1 and s-Eng were determined with ELISA. A p-value <.05 was considered statistically significant. Results Patients with TTTS had higher median plasma concentrations of s-Eng [14.8 ng/ml vs. 7.8 ng/ml; p<0.001] and sVEGFR-1 [6383.1 pg/ml vs. 3220.1 pg/ml; p<0.001]; and lower median plasma concentrations of PlGF [115.5 pg/ml vs. 359.3 pg/ml; p=0.002] than those without TTTS. Conclusions We propose that an anti-angiogenic state may be present in some cases of TTTS. PMID:18395032

  15. Managing twins discordant for fetal anomaly.

    PubMed

    Rustico, M A; Baietti, M G; Coviello, D; Orlandi, E; Nicolini, U

    2005-09-01

    An excess of structural anomalies is observed in twins compared to singletons. Approximately 1-2% of twin pregnancies may face the dilemma of expectant management versus selective termination following diagnosis of an anomaly affecting only one fetus. If the option of selective fetocide is considered, the main variable determining the technique to achieve this aim is chorionicity. In a dichorionic pregnancy, passage of substances from one twin into the circulation of the co-twin is unlikely due to the lack of placental anastomoses, hence KCl can be injected safely into the circulation of the affected twin to produce fetal asystole. In monochorionic twin pregnancies, selective termination needs to be performed by ensuring complete and permanent occlusion of both the arterial and venous flows in the umbilical cord of the affected twin, in order to avoid acute haemorrhage from the co-twin into the dying fetus, which may lead to death or organ damage. Bipolar cord coagulation under ultrasound guidance is associated with approximately 70-80% survival rates. 2005 John Wiley & Sons, Ltd.

  16. Dichorionic triamniotic triplet pregnancy complicated by twin anemia polycythemia sequence: the place of fetal therapy.

    PubMed

    Griersmith, Thérèse H; Fung, Alison M; Walker, Susan P

    2014-12-01

    Monochorionic twins as part of a high order multiple pregnancy can be an unintended consequence of the increasingly common practice of blastocyst transfer for couples requiring in vitro fertilisation (IVF) for infertility. Dichorionic triamniotic (DCTA) triplets is the most common presentation, and these pregnancies are particularly high risk because of the additional risks associated with monochorionicity. Surveillance for twin-to-twin transfusion syndrome, including twin anemia polycythemia sequence, may be more difficult, and any intervention to treat the monochorionic pair needs to balance the proposed benefits against the risks posed to the unaffected singleton. Counseling of families with DCTA triplets is therefore complex. Here, we report a case of DCTA triplets, where the pregnancy was complicated by threatened preterm labour, and twin anemia polycythemia sequence (TAPS) was later diagnosed at 28 weeks. The TAPS was managed with a single intraperitoneal transfusion, enabling safe prolongation of the pregnancy for over 2 weeks until recurrence of TAPS and preterm labour supervened. Postnatal TAPS was confirmed, and all three infants were later discharged home at term corrected age, and were normal at follow-up. This case highlights that in utero therapy has an important role in multiple pregnancies of mixed chorionicity, and can achieve safe prolongation of pregnancy at critical gestations.

  17. [Perinatal morbidity and mortality in twin pregnancies in a Moroccan level-3 maternity ward].

    PubMed

    Boubkraoui, Mohamed El-Mahdi; Aguenaou, Hassan; Mrabet, Mustapha; Barkat, Amina

    2016-01-01

    Twin pregnancies are associated with a higher rate of perinatal morbidity and mortality than singleton pregnancies. The aim of the present study was to evaluate perinatal morbidity and mortality in twin pregnancies in a Moroccan level-3 maternity ward. This is a comparative cross-sectional study of perinatal morbidity and mortality rates in newborn infants in twin pregnancies versus singleton pregnancies among women who gave birth at Souissi Maternity Hospital in Rabat from January 1 to February 28, 2014. There were 3297 births and, of these, 65 in twin pregnancies and 3167 in singleton pregnancies. Twin pregnancies were associated with higher rates of preeclampsia and eclampsia (P = 0.046), HELLP syndrome (P = 0.030), premature rupture of membranes (P < 0.001), malpresentation (P < 0.001), prematurity (P < 0.001), low birth weight in fullterm neonates (P < 0.001), respiratory distress at birth (P < 0.001), congenital malformations (P = 0.015), hospitalization in the neonatal period (P = 0.001), and perinatal mortality (P = 0.001) than singleton pregnancies. Monochorionic twins showed higher rates of low birth weight in fullterm pregnancies (P = 0.016) and of perinatal mortality (P = 0.017) than dichorionic twins. Twin pregnancies showed higher risk of perinatal morbidity and mortality than singleton pregnancies and were more exposed to prematurity. Monochorionic twin pregnancies showed a higher risk because of the significant exposure to low birth weight in fullterm babies.

  18. Genetic heritability and shared environmental factors among twin pairs with autism.

    PubMed

    Hallmayer, Joachim; Cleveland, Sue; Torres, Andrea; Phillips, Jennifer; Cohen, Brianne; Torigoe, Tiffany; Miller, Janet; Fedele, Angie; Collins, Jack; Smith, Karen; Lotspeich, Linda; Croen, Lisa A; Ozonoff, Sally; Lajonchere, Clara; Grether, Judith K; Risch, Neil

    2011-11-01

    Autism is considered the most heritable of neurodevelopmental disorders, mainly because of the large difference in concordance rates between monozygotic and dizygotic twins. To provide rigorous quantitative estimates of genetic heritability of autism and the effects of shared environment. Twin pairs with at least 1 twin with an autism spectrum disorder (ASD) born between 1987 and 2004 were identified through the California Department of Developmental Services. Structured diagnostic assessments (Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule) were completed on 192 twin pairs. Concordance rates were calculated and parametric models were fitted for 2 definitions, 1 narrow (strict autism) and 1 broad (ASD). For strict autism, probandwise concordance for male twins was 0.58 for 40 monozygotic pairs (95% confidence interval [CI], 0.42-0.74) and 0.21 for 31 dizygotic pairs (95% CI, 0.09-0.43); for female twins, the concordance was 0.60 for 7 monozygotic pairs (95% CI, 0.28-0.90) and 0.27 for 10 dizygotic pairs (95% CI, 0.09-0.69). For ASD, the probandwise concordance for male twins was 0.77 for 45 monozygotic pairs (95% CI, 0.65-0.86) and 0.31 for 45 dizygotic pairs (95% CI, 0.16-0.46); for female twins, the concordance was 0.50 for 9 monozygotic pairs (95% CI, 0.16-0.84) and 0.36 for 13 dizygotic pairs (95% CI, 0.11-0.60). A large proportion of the variance in liability can be explained by shared environmental factors (55%; 95% CI, 9%-81% for autism and 58%; 95% CI, 30%-80% for ASD) in addition to moderate genetic heritability (37%; 95% CI, 8%-84% for autism and 38%; 95% CI, 14%-67% for ASD). Susceptibility to ASD has moderate genetic heritability and a substantial shared twin environmental component.

  19. Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

    PubMed Central

    Boyle, B; Morris, JK; McConkey, R; Garne, E; Loane, M; Addor, MC; Gatt, M; Haeusler, M; Latos-Bielenska, A; Lelong, N; McDonnell, R; Mullaney, C; O’Mahony, M; Dolk, H

    2014-01-01

    Objective To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome. Design Population-based prevalence study based on EUROCAT congenital anomaly registries. Setting Eight European countries. Population 14.8 million births 1990–2009; 2.89% multiple births. Methods DS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases. Main outcome measures Relative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome. Statistical analysis Poisson and logistic regression stratified for maternal age, country and time. Results Overall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95% CI 0.53–0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7% of twin pairs affected by DS, both co-twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95% CI 0.25–0.44) and for dizygotic versus singleton pregnancies 1.34 (95% CI 1.23–1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95% CI 0.50–0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95% CI 0.27–0.59]). Conclusions The risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening. PMID:24495335

  20. Early neonatal morbidity and mortality in growth-discordant twins.

    PubMed

    Alam Machado, Rita De Cássia; Brizot, Maria De Lourdes; Liao, Adolfo Wenjaw; Krebs, Vera Lucia Jornada; Zugaib, Marcelo

    2009-01-01

    To evaluate early neonatal morbidity and mortality in twin pregnancies with growth discordance. Retrospective study. Tertiary teaching hospital, Sao Paulo, Brazil. A total of 151 twin pregnancies managed and delivered at the Multiple Pregnancy Unit at Sao Paulo University Hospital between 1998 and 2004. METHODS; Comparison between twin pregnancies with weight discordance > or =20% and pregnancies concordant for fetal weight. Cases with fetal death, abnormalities, twin-to-twin transfusion and delivery before 26 weeks or in another hospital were excluded. Early neonatal morbidity (Apgar at 5 minutes <7, respiratory or neurological complications, infection, necrotizing enterocolitis, length of hospital stay) and mortality. Forty (26.5%) pregnancies presented discordance > or =20% and 111 (73.5%) were concordant. In the discordant group, 75% of pregnancies had at least one growth restricted fetus (<10th centile). In concordant twin pregnancies, monochorionic cases (22.5%) presented with lower gestational age (34.3 vs. 36.2 weeks), lower birthweight (2,067 vs. 2,334 g) and a longer period of hospital stay (5.5 vs. 3.0) compared to dichorionic concordant twins. No differences between monochorionic and dichorionic subgroups were observed in discordant twins. Pregnancies in which at least one baby was born with a birthweight below the 10th centile showed that discordant pregnancies had a lower gestational age at delivery (35.2 vs. 36.8 weeks) and a longer period of hospital stay (9 vs. 4 weeks) compared to concordant cases. Neonatal mortality was similar in discordant (3.7%) and concordant (4.5%) twins. Early perinatal morbidity is increased in twin pregnancies with birthweight discordance > or =20% only when associated with fetal growth restriction and low birthweight.

  1. Inspection Time and Cognitive Abilities in Twins Aged 7 to 17 Years: Age-Related Changes, Heritability and Genetic Covariance

    ERIC Educational Resources Information Center

    Edmonds, Caroline J.; Isaacs, Elizabeth B.; Visscher, Peter M.; Rogers, Mary; Lanigan, Julie; Singhal, Atul; Lucas, Alan; Gringras, Paul; Denton, Jane; Deary, Ian J.

    2008-01-01

    We studied the age-related differences in inspection time and multiple cognitive domains in a group of monozygotic (MZ) and dizygotic (DZ) twins aged 7 to 17 years. Data from 111 twin pairs and 19 singleton siblings were included. We found clear age-related trends towards more efficient visual information processing in older participants. There…

  2. Observed Rate of Down Syndrome in Twin Pregnancies.

    PubMed

    Sparks, Teresa N; Norton, Mary E; Flessel, Monica; Goldman, Sara; Currier, Robert J

    2016-11-01

    To evaluate the observed incidence of Down syndrome in twins compared with that expected based on maternal age-matched singletons, which is the current clinical approach. This was a retrospective review of California Prenatal Screening Program participants with expected delivery dates between July 1995 and December 2012. Cases confirmed prenatally or postnatally with a genetic imbalance leading to phenotypic Down syndrome (trisomy 21, mosaic trisomy 21, or translocations) were included. Pregnancies conceived with ovum donation and women older than 45 years were excluded. We compared the observed Down syndrome incidence per pregnancy for twins with expected incidence by extrapolating from singleton data and expected zygosity as is the current clinical approach. This extrapolation assumes that monozygotic pregnancies have equivalent Down syndrome risk per pregnancy relative to maternal age-matched singletons and dizygotic pregnancies have twice the risk of at least one affected fetus. Zygosity for affected cases was presumed to be monozygotic with Down syndrome concordance and dizygotic with Down syndrome discordance. Counts were compared using cumulative Poisson distributions. Of 77,279 twin pregnancies, 182 (0.2%) had at least one fetus with Down syndrome confirmed by karyotype. The ratio of observed-to-expected Down syndrome incidence per pregnancy was 33.6%, 75.2%, and 70.0% for monozygotic, dizygotic, and all twins, respectively (P<.001 for all comparisons). Considering maternal age subgroups and twin zygosity, a significantly lower-than-expected Down syndrome incidence was seen for women aged 25 to 45 years with monozygotic pregnancies and overall for women aged 25 to 45 years with dizygotic pregnancies. The observed incidence of Down syndrome in twin pregnancies is lower than expected, most notably for monozygotic pregnancies and with increasing maternal age. Risk-based counseling can strongly affect women's choices regarding testing and management during

  3. Nonshared environmental influences and personality differences in adult twins.

    PubMed

    Baker, L A; Daniels, D

    1990-01-01

    The twin design was used to examine the importance of different experiences of siblings within the family and to identify relations between twins' personality differences and their differential experiences. A sample of 161 monozygotic and 74 dizygotic twin individuals between the ages of 18 and 75 years retrospectively reported on their different experiences when growing up. The Sibling Inventory of Differential Experience (SIDE) was used for the first time with a sample of twin siblings. In addition, the twins provided self-report measures of affect and personality. In contrast to results from a sibling adoption design, this study of twins showed greater evidence for genetic variance in the SIDE scales. Nevertheless, the SIDE showed significant associations with differences in personality and affect for monozygotic twins, which reflect pure environment-behavior relations.

  4. Chorion type as a possible influence on the results and interpretation of twin study data.

    PubMed

    Prescott, C A; Johnson, R C; McArdle, J J

    1999-12-01

    The estimation of genetic effects from twin studies usually relies upon the equal environment assumption--that monozygous (MZ) and dizygous (DZ) twin pairs experience equal similarity of their environments from prenatal experiences through adulthood. However, the sharing of a chorion may make a subset of identical twins more similar, or in some cases, more different, than twins that do not share a chorion. Recent studies suggest monochorionic MZ twins resemble one another more than dichorionic MZ twins in cognitive abilities, personality, and risk for psychiatric disorder. To the extent that prenatal environment affects these characteristics, the traditional twin method will yield biased estimates of genetic and environmental influences. We develop models for quantifying this bias and estimating the influence of chorion type on estimates of heritability.

  5. Twin anemia-polycythemia sequence in a case of monoamniotic twins.

    PubMed

    Diehl, W; Glosemeyer, P; Tavares De Sousa, M; Hollwitz, B; Ortmeyer, G; Hecher, K

    2013-07-01

    Twin anemia-polycythemia sequence (TAPS) complicates up to 6% of monochorionic diamniotic twin pregnancies, typically in the late second or third trimester. The presence of only a few and very small arteriovenous vascular anastomoses characterizes the underlying angioarchitecture at the chorionic plate in cases of TAPS. In monoamniotic twins, large vascular anastomoses can usually be seen at the placental vascular equator, and therefore one would not expect the development of TAPS in monoamniotic twins. We report a case of TAPS in a monoamniotic pregnancy at 26 + 5 weeks' gestation which responded favorably to fetoscopic laser coagulation of the small placental anastomoses, resolving severe anemia in one twin and polycythemia in the other. The pregnancy continued until 32 + 5 weeks, when worsening cord entanglement with increased resistance and the development of postsystolic notches in the umbilical artery of one twin prompted delivery by Cesarean section. There was only a moderate difference in neonatal hemoglobin concentrations, with the former polycythemic twin needing a single partial volume exchange transfusion. The postnatal course of the neonates was uneventful, according to their gestational age at birth. To our knowledge this is the first case report describing successful laser therapy for TAPS in monoamniotic twins.

  6. Incidences of Feto-Fetal Transfusion Syndrome and Perinatal Outcomes in Triplet Gestations with Monochorionic Placentation.

    PubMed

    Sato, Yuka; Ishii, Keisuke; Yokouchi, Tae; Murakoshi, Takeshi; Kiyoshi, Kenji; Nakayama, Soichiro; Yonetani, Naoto; Mitsuda, Nobuaki

    2016-01-01

    This study aimed to determine the incidences of feto-fetal transfusion syndrome (FFTS) and perinatal outcomes in triplet gestations with monochorionic placentation. In this retrospective cohort study, we evaluated the incidences of FFTS and perinatal outcomes at 28 days of age in cases of triplet gestations with monochorionic placentation who visited our centers before 16 weeks of gestation and delivered over a period of 11 years. In 41 triplet gestations (17 monochorionic triamniotic, 22 dichorionic triamniotic, 1 dichorionic diamniotic, and 1 monochorionic monoamniotic), the incidence of FFTS was 17.1%, and the median gestational age at FFTS diagnosis was 19 weeks. In 123 triplets, the incidences of fetal death and neonatal death at 28 days of age were 8.1 and 0.9%, respectively. None of the surviving infants had grade 3 or 4 intraventricular hemorrhage, while cystic periventricular leukomalacia occurred in 6 of 113 infants (5.3%). The incidence of poor outcomes (death or any major neurological complication at 28 days of age) was 13.8%. Seventeen percent of triplet pregnancies with monochorionic placentation developed FFTS, and 14% had a poor outcome. Therefore, triplet gestations with monochorionic placentation should be followed carefully. © 2016 S. Karger AG, Basel.

  7. Genetic and environmental factors in associations between infant growth and adult cardiometabolic risk profile in twins.

    PubMed

    Touwslager, Robbert N H; Gielen, Marij; Mulder, Antonius L M; Gerver, Willem J M; Zimmermann, Luc J; Dagnelie, Pieter C; Houben, Alfons J H M; Stehouwer, Coen D A; Derom, Catherine; Vlietinck, Robert; Loos, Ruth J F; Zeegers, Maurice P

    2013-10-01

    Accelerated infant growth is associated with an altered, mostly adverse adult cardiometabolic risk profile. The importance of genetic and environmental factors to these associations is unclear. The objective was to examine the importance of genetic and environmental factors in the associations between infant growth and adult cardiometabolic risk factors (anthropometric characteristics, lipids, insulin sensitivity, leptin, blood pressure, and fibrinogen) in twins. Cardiometabolic risk factors were assessed in 240 twin pairs (aged 18-34 y) from the East Flanders Prospective Twin Survey. Infant growth was defined as change in weight z score. We regressed intrapair differences in growth during 4 growth windows (0-1, 1-6, 6-12, and 12-24 mo) against intrapair differences in the risk factors in monozygotic and dizygotic twins separately. Within monozygotic twin pairs only, associations between infant growth and most adult lipids, glucose, leptin, and blood pressure (eg, systolic blood pressure: b = 5.95 mm Hg per change in z score, P = 0.01 in monozygotic twins; b = -1.64, P = 0.82 in dizygotic twins from 12 to 24 mo) were found. Within dizygotic twin pairs only, associations between growth and triglycerides and fibrinogen (eg, fibrinogen: b = 0.07 ln mg/dL per change in z score, P = 0.31 in monozygotic twins; b = 0.79, P = 0.01 in dizygotic twins from 0 to 1 mo) were identified. Most associations showed a detrimental effect of accelerated growth, but beneficial associations were also identified (eg, total-to-high-density-lipoprotein cholesterol ratio: b = -0.22 per change in z score from 1 to 6 mo, P = 0.008 in monozygotic twins). Our data showed that environmental factors play a role in the associations between infant growth and most adult lipids, glucose, leptin, and blood pressure, whereas genetic factors are involved regarding triglycerides and fibrinogen.

  8. Disease-Concordant Twins Empower Genetic Association Studies.

    PubMed

    Tan, Qihua; Li, Weilong; Vandin, Fabio

    2017-01-01

    Genome-wide association studies with moderate sample sizes are underpowered, especially when testing SNP alleles with low allele counts, a situation that may lead to high frequency of false-positive results and lack of replication in independent studies. Related individuals, such as twin pairs concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases and ordinary healthy samples as controls. We examined the power gain of the twin-based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case-control design with cases collected from the unrelated patient population. Simulation was done by assigning various allele frequencies and allelic relative risks for different mode of genetic inheritance. In general, for achieving a power estimate of 80%, the sample sizes needed for dizygotic and monozygotic twin cases were one half and one fourth of the sample size of an ordinary case-control design, with variations depending on genetic mode. Importantly, the enriched power for dizygotic twins also applies to disease-concordant sibling pairs, which largely extends the application of the concordant twin design. Overall, our simulation revealed a high value of disease-concordant twins in genetic association studies and encourages the use of genetically related individuals for highly efficiently identifying both common and rare genetic variants underlying human complex diseases without increasing laboratory cost. © 2016 John Wiley & Sons Ltd/University College London.

  9. Minimally Conjoined Omphalopagus Twins with a Body Stalk Anomaly

    PubMed Central

    Maruyama, Hidehiko; Inagaki, Takeshi; Nakata, Yusei; Kanazawa, Akane; Iwasaki, Yuka; Sasaki, Kiyoshi; Nagai, Ryuhei; Kinoshita, Hiromi; Iwata, Jun; Kikkawa, Kiyoshi

    2015-01-01

    Introduction This report will discuss a case of minimally conjoined omphalopagus twins (MCOTs) with a body stalk anomaly (BSA). Case Report We experienced monochorionic diamniotic (MD) twins born at 31 weeks. One infant was suspicious of BSA before birth, and another infant was normal. But normal infant had anal atresia with small intestine which was inserted behind the umbilicus. Twins had very short common umbilicus and infant with BSA had intestinal conjunction, two appendixes at the site of the colon, and a blind-ending colon. We diagnosed MCOTs. Discussion On the basis of the Spencer hypothesis, the etiology of MCOTs was that MD twins shared a yolk sac. However, this could not explain the presence of a BSA. It is necessary to consider the possible reasons for a singleton BSA. In addition, intestinal fusion occurred unequally in this case, although two appendixes were found in the same place, which might have occurred because of the balanced fusion. PMID:26495169

  10. Imperfect twinning: a clinical and ethical dilemma

    PubMed Central

    Denardin, Daniela; Telles, Jorge Alberto B.; Betat, Rosilene da Silveira; Fell, Paulo Renato K.; da Cunha, André Campos; Targa, Luciano Vieira; Zen, Paulo Ricardo G.; Rosa, Rafael Fabiano M.

    2013-01-01

    OBJECTIVE To review the history, epidemiology, etiology, gestational aspects, diagnosis and prognosis of imperfect twinning. DATA SOURCES Scientific articles were searched in PubMed, SciELO and Lilacs databases, using the descriptors "conjoined twins", "multiple pregnancy", "ultrasound", "magnetic resonance imaging" and "prognosis". The research was not delimited to a specific period of time and was supplemented with bibliographic data from books. DATA SYNTHESIS: The description of conjoined twins is legendary. The estimated frequency is 1/45,000-200,000 births. These twins are monozygotic, monochorionic and usually monoamniotic. They can be classified by the most prominent fusion site, by the symmetry between the conjoined twins or by the sharing structure. The diagnosis can be performed in the prenatal period or after birth by different techniques, such as ultrasound, magnetic resonance imaging and echocardiography. These tests are of paramount importance for understanding the anatomy of both fetuses/children, as well as for prognosis and surgical plan determination. CONCLUSIONS Although imperfect twinning is a rare condition, the prenatal diagnosis is very important in order to evaluate the fusion site and its complexity. Hence, the evaluation of these children should be multidisciplinary, involving mainly obstetricians, pediatricians and pediatric surgeons. However, some decisions may constitute real ethical dilemmas, in which different points should be discussed and analyzed with the health team and the family. PMID:24142323

  11. Imperfect twinning: a clinical and ethical dilemma.

    PubMed

    Denardin, Daniela; Telles, Jorge Alberto B; Betat, Rosilene da Silveira; Fell, Paulo Renato K; Cunha, André Campos da; Targa, Luciano Vieira; Zen, Paulo Ricardo G; Rosa, Rafael Fabiano M

    2013-09-01

    OBJECTIVE To review the history, epidemiology, etiology, gestational aspects, diagnosis and prognosis of imperfect twinning. DATA SOURCES Scientific articles were searched in PubMed, SciELO and Lilacs databases, using the descriptors "conjoined twins", "multiple pregnancy", "ultrasound", "magnetic resonance imaging" and "prognosis". The research was not delimited to a specific period of time and was supplemented with bibliographic data from books. The description of conjoined twins is legendary. The estimated frequency is 1/45,000-200,000 births. These twins are monozygotic, monochorionic and usually monoamniotic. They can be classified by the most prominent fusion site, by the symmetry between the conjoined twins or by the sharing structure. The diagnosis can be performed in the prenatal period or after birth by different techniques, such as ultrasound, magnetic resonance imaging and echocardiography. These tests are of paramount importance for understanding the anatomy of both fetuses/children, as well as for prognosis and surgical plan determination. CONCLUSIONS Although imperfect twinning is a rare condition, the prenatal diagnosis is very important in order to evaluate the fusion site and its complexity. Hence, the evaluation of these children should be multidisciplinary, involving mainly obstetricians, pediatricians and pediatric surgeons. However, some decisions may constitute real ethical dilemmas, in which different points should be discussed and analyzed with the health team and the family.

  12. Traits of ADHD and autism in girls with a twin brother: a Mendelian randomization study.

    PubMed

    Attermann, Jørn; Obel, Carsten; Bilenberg, Niels; Nordenbæk, Claudia Maria; Skytthe, Axel; Olsen, Jørn

    2012-09-01

    It has been hypothesized that prenatal exposure to testosterone may be associated with traits of attention-deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD). We conducted a population-based study of dizygotic female twins to elucidate this hypothesis, assuming that the sex of the co-twin influences the level of prenatal exposure to testosterone. We invited parents of 24,552 3- to 15-year-old twins to answer questionnaires on traits of ADHD and ASD. We analysed the data using a proportional odds model with sex of the co-twin as an instrumental variable for prenatal exposure to testosterone of female twins. We received responses for 6,339 girls from dizygotic twin pairs. Odds ratios for male versus female co-twin were 0.71 (95 % confidence interval 0.61-0.81) for ADHD traits and 0.74 (0.66-0.83) for ASD traits, indicating that a twin brother reduces traits of ADHD and ASD in females. In conclusion, we found that female twins with a twin brother scored significantly lower in parent-reported traits of ADHD and ASD than those with a twin sister. The reason for this may be parental reporting bias, or confounding by unmeasured variables, or a causal effect of an intrauterine environment modified by the sex of the co-twin in the opposite direction of what we expected.

  13. Evidence for higher heritability of somatotype compared to body mass index in female twins.

    PubMed

    Reis, Victor Machado; Machado, João V; Fortes, Marcos S; Fernandes, Paula Roquetti; Silva, António José; Dantas, Paulo Silva; Filho, José Fernandes

    2007-01-01

    The influence of genetics on human physique and obesity has been addressed by the literature. Evidence for heritability of anthropometric characteristics has been previously described, mainly for the body mass index (BMI). However, few studies have investigated the influence of genetics on the Heath-Carter somatotype. The aim of the present study was to assess the heritability of BMI and somatotype (endomorphy, mesomorphy, and ectomorphy) in a group of female monozygotic and dizygotic twins from childhood to early adulthood. A total of 28 females aged from 7 to 19 years old were studied. The group included 5 monozygotic and 9 dizygotic pairs of twins. The heritability was assessed by the twin method (h(2)). The anthropometric measures and somatotype were assessed using standard validated procedures. Significant differences between monozygotic and dizygotic pairs of twins were found for height, endomorphy, ectomorphy, and mesomorphy, and the heritability for these measures was high (h(2) between 0.88 and 0.97). No significant differences were found between monozygotic and dizygotic twins for weight, and the BMI and the heritability indexes were lower for these measures (respectively 0.42 and 0.52). The results of the present study have indicated that the somatotype may be more sensible to genetic influences than the BMI in females.

  14. Fetal Cholelithiasis: Antenatal Diagnosis and Neonatal Follow-Up in a Case of Twin Pregnancy – A Case Report and Review of the Literature

    PubMed Central

    Hurni, Yannick; Vigo, Francesco; von Wattenwyl, Begoña Lipp; Ochsenbein, Nicole; Canonica, Claudia

    2017-01-01

    Fetal cholelithiasis is a rare finding during a third-trimester ultrasound with an average incidence rate of 0.07–1.15%. We report a case of fetal cholelithiasis in twins, observed in a patient with monochorionic diamniotic twin pregnancy hospitalized at our unit for signs of premature labor. We present the outcome of the 2 neonates with a clinical and sonographic follow-up. In addition, we offer a comprehensive review of the literature available to date. PMID:28210714

  15. Twin-to-Twin Heart Transplantation: A Unique Event With a 25-Year Follow-Up.

    PubMed

    Blitzer, David; Yedlicka, Grace; Manghelli, Joshua; Dentel, John; Caldwell, Randall; Brown, John W

    2017-04-01

    Solid organ transplantation in pediatric patients has been a reality since 1954, when the first kidney transplantation was successfully performed between identical twins. We report the long-term outcomes, with more than 25 years of follow-up, in a patient born with hypoplastic left heart syndrome (HLHS) who received a heart transplant from a dizygotic twin. While we would not wish for this situation to reoccur, we hope that in reporting it, we can add to the discussion surrounding pediatric heart transplantation and the management of HLHS. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  16. Head Circumferences in Twins With and Without Autism Spectrum Disorders

    PubMed Central

    Cleveland, Sue; Torres, Andrea; Phillips, Jennifer; Cohen, Brianne; Torigoe, Tiffany; Miller, Janet; Fedele, Angie; Collins, Jack; Smith, Karen; Lotspeich, Linda; Croen, Lisa A.; Ozonoff, Sally; Lajonchere, Clara; Grether, Judith K.; Hallmayer, Joachim

    2013-01-01

    To determine the genetic relationship between head circumference (HC) and Autism Spectrum Disorders (ASDs). Twin pairs with at least one twin with an ASD were assessed. HCs in affected and unaffected individuals were compared, as were HC correlations in monozygotic and dizygotic pairs. 404 subjects, ages 4–18, were included. 20 % of males and 27 % of females with an ASD had macrocephaly. Unaffected co-twins showed similar rates (15 % of males and 22 % of females). Statistical analysis revealed no significant difference in HCs between affected and unaffected twins. Twins with ASDs and unaffected co-twins have similar HCs and increased rates of macrocephaly. Correlations demonstrated partial inheritance of HCs. Thus, macrocephaly may represent an endophenotype in ASDs. PMID:23321801

  17. Head circumferences in twins with and without Autism Spectrum Disorders.

    PubMed

    Froehlich, Wendy; Cleveland, Sue; Torres, Andrea; Phillips, Jennifer; Cohen, Brianne; Torigoe, Tiffany; Miller, Janet; Fedele, Angie; Collins, Jack; Smith, Karen; Lotspeich, Linda; Croen, Lisa A; Ozonoff, Sally; Lajonchere, Clara; Grether, Judith K; Hallmayer, Joachim

    2013-09-01

    To determine the genetic relationship between head circumference (HC) and Autism Spectrum Disorders (ASDs). Twin pairs with at least one twin with an ASD were assessed. HCs in affected and unaffected individuals were compared, as were HC correlations in monozygotic and dizygotic pairs. 404 subjects, ages 4-18, were included. 20 % of males and 27 % of females with an ASD had macrocephaly. Unaffected co-twins showed similar rates (16 % of males and 22 % of females). Statistical analysis revealed no significant difference in HCs between affected and unaffected twins. Twins with ASDs and unaffected co-twins have similar HCs and increased rates of macrocephaly. Correlations demonstrated partial inheritance of HCs. Thus, macrocephaly may represent an endophenotype in ASDs.

  18. Sensory Motor and Functional Skills of Dizygotic Twins: One with Smith-Magenis Syndrome and a Twin Control

    ERIC Educational Resources Information Center

    Smith, Michaele R.; Hildenbrand, Hanna; Smith, Ann C. M.

    2009-01-01

    Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive…

  19. Sensory Motor and Functional Skills of Dizygotic Twins: One with Smith-Magenis Syndrome and a Twin Control

    ERIC Educational Resources Information Center

    Smith, Michaele R.; Hildenbrand, Hanna; Smith, Ann C. M.

    2009-01-01

    Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive…

  20. Starry sky pattern of fetal liver sonogram as first sign of twin-twin transfusion syndrome.

    PubMed

    Segev, Y; Goldberg, Y; Riskin-Mashiah, S; Berdicef, M; Lavie, O; Auslender, R

    2012-06-01

    'Starry sky' liver is one of the most common sonographic patterns in diffuse liver disease. It is characterized by clearly identified portal venules due to diminished parenchymal echogenicity. In advanced cases of twin-to-twin transfusion syndrome (TTTS), volume overload is considered the key factor in the pathogenesis of cardiac dysfunction of the recipient twin. When right-sided failure occurs, the liver might show signs of edema and, as in acute hepatitis, the appearance of starry sky might develop. We present a case in which the sonographic appearance of starry sky liver, along with right-sided cardiac failure (tricuspid regurgitation), were the first signs of TTTS in monochorionic twins at 20 weeks. A short time later, at 21 weeks, other signs of overload and signs of worsening heart failure were noted, as the typical triphasic waves in the inferior vena cava were replaced by a biphasic flow profile. Twin 2 at that time had relative oligohydramnios. A few days later, relative polyhydramnios and edema of the placental domain of the recipient twin were also noted. To the best of our knowledge, this is the first case report describing this hepatic sonographic pattern as an early sonographic sign of TTTS.

  1. Longitudinal Twin Study of Early Literacy Development: Preschool and Kindergarten Phases

    ERIC Educational Resources Information Center

    Byrne, Brian; Wadsworth, Sally; Corley, Robin; Samuelsson, Stefan; Quain, Peter; DeFries, John C.; Willcutt, Erik; Olson, Richard K.

    2005-01-01

    We conducted behavior?genetic analyses of kindergarten reading, spelling, phonological awareness, rapid naming, and spoken sentence processing in 172 pairs of monozygotic and 153 pairs of same-sex dizygotic twin kindergarten children sampled in the United States and Australia. We also modeled progress from preschool to kindergarten in…

  2. Longitudinal Twin Study of Early Literacy Development: Preschool and Kindergarten Phases

    ERIC Educational Resources Information Center

    Byrne, Brian; Wadsworth, Sally; Corley, Robin; Samuelsson, Stefan; Quain, Peter; DeFries, John C.; Willcutt, Erik; Olson, Richard K.

    2005-01-01

    We conducted behavior?genetic analyses of kindergarten reading, spelling, phonological awareness, rapid naming, and spoken sentence processing in 172 pairs of monozygotic and 153 pairs of same-sex dizygotic twin kindergarten children sampled in the United States and Australia. We also modeled progress from preschool to kindergarten in…

  3. Methylation matters? Decreased methylation status of genomic DNA in the blood of schizophrenic twins.

    PubMed

    Bönsch, Dominikus; Wunschel, Michael; Lenz, Bernd; Janssen, Gesa; Weisbrod, Matthias; Sauer, Heinrich

    2012-08-15

    Studies of schizophrenia inheritance in identical twins show a concordance of about 50%, which supports an epigenetic model. In our present study we investigated methylation of genomic DNA and promoter methylation of Reelin and SOX10 genes in peripheral blood of twins suffering from schizophrenia. Global DNA methylation was reduced (52.3%) in schizophrenic twins if compared with healthy control twins (65.7%). The reduced methylation was significant in males only. We also found a similar hypomethylation in the non-affected twins of discordant pairs and a mixed group of psychiatric controls. In discordant twins there was a relative hypermethylation of the SOX10 promoter. Within-pair-difference of methylation of Reelin promoter was significantly lower in monozygotic twins than in dizygotic twins.

  4. Twins discordant for myositis and systemic lupus erythematosus show markedly enriched autoantibodies in the affected twin supporting environmental influences in pathogenesis.

    PubMed

    Gan, Lu; O'Hanlon, Terrance P; Gordon, Aaron S; Rider, Lisa G; Miller, Frederick W; Burbelo, Peter D

    2014-03-06

    Studies of twin pairs discordant for autoimmune conditions provide a unique opportunity to explore contributing factors triggered by complex gene-environment interactions. In this cross-sectional study, thirty-one monozygotic or dizygotic twin pairs discordant for myositis or systemic lupus erythematosus (SLE), along with matched healthy controls were evaluated for antibodies against a panel of 21 autoantigens. Autoantibody profiling revealed that 42% of the affected twins showed significant seropositivity against autoantigens in the panel. In many of these affected twins, but none of healthy controls, there were high levels of autoantibodies detected against two or more autoantigens commonly seen in systemic autoimmune diseases including Ro52, Ro60, RNP-70 K and/or RNP-A. In contrast, only 10% (3/31) of the unaffected twins showed seropositivity and these immunoreactivities were against single autoantigens not seen in systemic autoimmune diseases. While no significant differences in autoantibodies were detected between the affected or unaffected twins against thyroid peroxidase, transglutaminase and several cytokines, 23% of the affected twins with myositis showed autoantibodies against the gastric ATPase. Analysis of the monozygotic twins separately also revealed a higher frequencies of autoantibodies in the affected twins compared to the unaffected twins (P = 0.046). Lastly, clinical analysis of both the affected monozygotic and dizygotic twins revealed that the autoantibody seropositive affected twins had a greater global disease activity score compared to seronegative affected twins (P = 0.019). The findings of significantly more autoantibodies in the affected twins with myositis and SLE compared to the unaffected twins are consistent with potential non-genetic factors playing a role in autoantibody production and pathogenesis of these autoimmune disorders.

  5. Twins discordant for myositis and systemic lupus erythematosus show markedly enriched autoantibodies in the affected twin supporting environmental influences in pathogenesis

    PubMed Central

    2014-01-01

    Background Studies of twin pairs discordant for autoimmune conditions provide a unique opportunity to explore contributing factors triggered by complex gene-environment interactions. Methods In this cross-sectional study, thirty-one monozygotic or dizygotic twin pairs discordant for myositis or systemic lupus erythematosus (SLE), along with matched healthy controls were evaluated for antibodies against a panel of 21 autoantigens. Results Autoantibody profiling revealed that 42% of the affected twins showed significant seropositivity against autoantigens in the panel. In many of these affected twins, but none of healthy controls, there were high levels of autoantibodies detected against two or more autoantigens commonly seen in systemic autoimmune diseases including Ro52, Ro60, RNP-70 K and/or RNP-A. In contrast, only 10% (3/31) of the unaffected twins showed seropositivity and these immunoreactivities were against single autoantigens not seen in systemic autoimmune diseases. While no significant differences in autoantibodies were detected between the affected or unaffected twins against thyroid peroxidase, transglutaminase and several cytokines, 23% of the affected twins with myositis showed autoantibodies against the gastric ATPase. Analysis of the monozygotic twins separately also revealed a higher frequencies of autoantibodies in the affected twins compared to the unaffected twins (P = 0.046). Lastly, clinical analysis of both the affected monozygotic and dizygotic twins revealed that the autoantibody seropositive affected twins had a greater global disease activity score compared to seronegative affected twins (P = 0.019). Conclusion The findings of significantly more autoantibodies in the affected twins with myositis and SLE compared to the unaffected twins are consistent with potential non-genetic factors playing a role in autoantibody production and pathogenesis of these autoimmune disorders. PMID:24602337

  6. Genetic and environmental effects on the bone development of the hand and wrist in Chinese young twins.

    PubMed

    Dong, Li Yan; Tan, Ji Bin; Zhao, Jing Lan; Jiang, Fa Chun; Tian, Xiao Cao; Ning, Feng; Wang, Shao Jie; Zhang, Dong Feng; Pang, Zeng Chang; Zhao, Zhong Tang

    2015-03-01

    We assessed genetic and environmental effects on bone development of the hand and wrist, and on key anthropometric measures in Chinese young twins. In total, 139 monozygotic and 95 dizygotic twin pairs aged from 5 to 18 years were recruited. The twin correlations of total hand and wrist scores for monozygotic (MZ) and dizygotic (DZ) twins were 0.71 and 0.36, respectively. Bivariate model analysis showed moderate genetic correlations only for total skeletal maturity vs. weight and total skeletal maturity vs. waist circumference (r, 0.51 and 0.46, respectively). Our findings demonstrated that genetic factors played important roles in bone development of the hand and wrist in Chinese young twins, and that these genetic effects might be distinct from those influencing anthropometric measures.

  7. Concordance Rates of Adolescent Idiopathic Scoliosis in a Danish Twin Population.

    PubMed

    Simony, Ane; Carreon, Leah Y; Hjmark, Karen; Kyvik, Kirsten O; Andersen, Mikkel Ø

    2016-10-01

    Clinical, radiological, and genetic determination of zygosity of twin pairs from the Danish Twin Registry who self-reported having adolescent idiopathic scoliosis (AIS). To establish concordance rates of AIS. The etiology of and the true mode of inheritance of AIS remain unclear. Studies on concordance in twin pairs provide a basis for analyzing the influence of genetic versus environmental factors. In 2007, using self-report of AIS from the Danish Twin Registry, concordance rates of 0.13 in monozygotic twins and 0.00 in dizygotic twins were reported. All 46,418 twins registered in the Danish Twin Registry born from 1931 to 1982 were sent a survey, which included questions about scoliosis. The survey was returned by 34,944 individuals (75.3%) representing 23,204 pairs. From the present study, 548 individuals representing 274 complete twin pairs in which at least one twin self-reported having scoliosis were invited to a clinical and radiological examination. Zygosity was established by genetic testing. A total of 182 individuals (33.2%) of the original cohort agreed to participate, 128 of whom had scoliosis by self-report. There were 91 twin pairs, in which one or both twins had reported scoliosis and 36 individuals whose twin did not want to participate. Only 35 (27%) of the 128 participants with self-reported scoliosis had a clinically and radiologically confirmed curve. Calculating concordance in twins with Cobb angles greater than 10°, we found that the pairwise concordance rate was 0.4 (0.10-0.70) for monozygotic and 0.05 (-0.05-0.15) for dizygotic twins, P = 0.05, probandwise concordance was 0.45 (0.16-0.74) for monozygotic and 0.1 (-0.03-0.23) for dizygotic pairs. Concordance rates in a Danish twin population using genetic testing for zygosity are higher than previously reported using self-report. Although not statistically significant, the differences in monozygotic and dizygotic pairs indicate that genetic factors may be of importance for scoliosis. 3.

  8. Haemoglobin discordances in twins: due to differences in timing of cord clamping?

    PubMed

    Verbeek, Lianne; Zhao, Depeng P; Middeldorp, Johanna M; Oepkes, Dick; Hooper, Stuart B; Te Pas, Arjan B; Lopriore, Enrico

    2017-07-01

    Our objective was to study the differences in haemoglobin (Hb) at birth in dichorionic (DC) versus monochorionic (MC) twins in relation to birth order and mode of delivery. All consecutive DC twin pregnancies and uncomplicated MC twin pregnancies with two live-born twins delivered at our centre were included in this retrospective cohort study. Hb levels at birth and on day 2 were evaluated in association with birth order and mode of delivery. The occurrence of polycythaemia (venous haematocrit >65%) was also recorded. A total of 300 DC and 290 MC twin pairs were included. In DC and MC twins delivered vaginally, second-born twins had a higher Hb level at birth compared with their co-twin (mean Hb level 16.7 vs 15.9 g/dL (p<0.01) in DC twins and 17.8 vs 16.1 g/dL (p<0.01) in MC twins). In twins delivered through caesarean section, no intertwin differences in Hb levels were detected. Polycythaemia occurred significantly more often in second-born twins compared with first-born twins delivered vaginally: 10 (5%) vs 2 (1%) (p=0.02) in DC twins and 20 (12%) vs 2 (1%) (p<0.01) in MC twins. Second-born DC and MC twins delivered vaginally have higher Hb levels at birth compared with first-born twins. Intertwin Hb differences in MC twins may partly be related to blood transfusion through the vascular anastomoses. Since DC twins do not have anastomoses, other factors may lead to Hb differences, including differences in timing of umbilical cord clamping. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  9. Acardiac twin pregnancy: successful intrauterine ablative treatment with alcohol at 14 weeks of gestation.

    PubMed

    Guven, M A; Koc, O; Bodur, H; Erkanli, S; Bagis, T; Usal, D

    2016-01-01

    Twin reversed arterial perfusion (TRAP) sequence is a serious condition of monochorionic twin pregnancy, occurring in approximately one in 35,000 cases. First trimester treatment of TRAP sequence is controversial with higher incidence of procedure related complications. Present case demonstrates a TRAP sequence that was managed by intrauterine treatment with one-ml 100% pure alcohol injection into the abdominal part of the umbilical artery and obliteration of the acardiac twin at 14 weeks of gestation. Antenatal follow-up was uneventful and elective cesarean section was performed at 39 weeks' gestation. Postnatal outcome of the pump twin was excellent at 30 months after birth. Early second trimester elective ablation by alcohol injection can be an inexpensive, alternative, and reasonable minimal invasive treatment option to prevent fetal loss of pump twin before mid and late second trimester in perinatology centers where intrafetal cord occlusive methods are not available.

  10. Twins and the paradox of dental-age estimations: a caution for researchers and clinicians.

    PubMed

    Pechníková, M; De Angelis, D; Gibelli, D; Vecchio, V; Cameriere, R; Zeqiri, B; Cattaneo, C

    2014-08-01

    The biological age difference among twins is frequently an issue in studies of genetic influence on various dental features, particularly dental development. The timing of dental development is a crucial issue also for many clinicians and researchers. The aim of this study was therefore to verify within groups of twins how dental development differs, by applying Demirjian's method, Mincer's charts of development of third molars and two of Cameriere's methods for dental age estimation, which are among the most popular methods both in the clinical and the forensic scenario. The sample consisted of 64 twin pairs: 21 monozygotic, 30 dizygotic same-sex and 13 dizygotic opposite-sex with an age range between 5.8 and 22.6 years. Dental age was determined from radiographs using the mentioned methods. Results showed that dental age of monozygotic twins is not identical even if they share all their genes. The mean intra-pair difference of monozygotic pairs was low and similar to the difference in dizygotic same-sex twins; the maximum difference between monozygotic twins, however, was surprisingly large (nearly two years). This should lead to some circumspection in the interpretation of systematic estimations of dental age both in the clinical and forensic scenario. Copyright © 2014 Elsevier GmbH. All rights reserved.

  11. Genetic contribution to the relationship between social role function and depressive symptoms in Japanese elderly twins: a twin study.

    PubMed

    Nishihara, Reiko; Inui, Fujio; Kato, Kenji; Tomizawa, Rie; Hayakawa, Kazuo

    2011-03-01

    Social role function is the capacity to maintain interpersonal relationships and is essential for being independent in the community. Limitations in social role function often coexist with depressive symptoms, suggesting a possible common mechanistic basis. We investigated whether the observed association between these traits is mainly a result of genetic or environmental influences. In 2008, a questionnaire was sent to 745 male twins aged 65 years and older. Our sample included 397 male twins. The number of monozygotic twins was 302, and dizygotic was 95. Among the twin pairs for whom data were available for both twins, 75 twin pairs (150 individuals) were monozygotic and 28 pairs (56 individuals) were dizygotic. Social role function was assessed using the Tokyo Metropolitan Institute of Gerontology Index of Competence. Depressive symptoms were measured by the 15-item version of the Geriatric Depression Scale. Relative importance of genes and environments for the phenotypes was calculated using structural equation analyses. Our results show that genetic influence was the major contributor to the relationship between social role function and depressive symptoms, and non-shared environmental influence was important for overall variation in each trait. We concluded that focusing on a non-shared environment is an essential approach for maintaining social role function and psychological well-being. It is suggested that treatments specific to depressive symptoms are more effective than indirect intervention targeting social role function. © 2011 The Authors. Psychogeriatrics © 2011 Japanese Psychogeriatric Society.

  12. Heritability of cilioretinal arteries: a twin study.

    PubMed

    Taarnhøj, Nina C B B; Munch, Inger C; Kyvik, Kirsten O; Sander, Birgit; Kessel, Line; Sørensen, Thorkild I A; Hougaard, Jesper L; Larsen, Michael

    2005-10-01

    To determine whether the presence of one or more cilioretinal arteries, a distinct element of the pattern of fundus vessels, is genetically programmed, influenced by environmental factors, or the result of random mechanisms of vascular development. The fundi of 112 pairs of healthy monozygotic and dizygotic twins were examined using digital fundus photography and visual assessment of grayscale fundus photographs and color transparencies to detect the presence of cilioretinal arteries. Cilioretinal arteries were present in 45.1% of participants and 28.8% of eyes. The majority of cilioretinal arteries, 88.2%, were located temporally, and 11.8% were located nasally. Monozygotic twins had higher concordance rates for cilioretinal arteries than dizygotic twins. Tetrachoric correlations and Mantel-Haenszel odds ratios demonstrated statistically significant evidence of a genetic effect underlying the presence of cilioretinal arteries (P < 0.01). Statistical analysis supported the hypothesis that additive genetic factors influenced the presence of cilioretinal arteries with a heritability of 71.4%, the remaining variance being attributable to nonshared or random environmental factors. The presence or absence of one or more cilioretinal arteries in healthy persons is markedly influenced by genetic factors.

  13. Current twin studies in Germany: report on CoSMoS, SOEP, and ChronoS.

    PubMed

    Hahn, Elisabeth; Gottschling, Juliana; Spinath, Frank M

    2013-02-01

    This article summarizes the status of three recent German twin studies: CoSMoS, SOEP, and ChronoS. The German twin study on Cognitive Ability, Self-Reported Motivation, and School Achievement (CoSMoS) is a three-wave longitudinal study of monozygotic and dizygotic twins reared together, and aims to investigate predictors of and influences on school performance. In the first wave of the data collection in 2005, 408 pairs of twins aged between 7 and 11 as well as their parents participated in CoSMoS. The SOEP twin study is an extended twin study, which has combined data from monozygotic and dizygotic twins reared together with additional data from full sibling pairs, mother-child, and grandparent-child dyads who participated in the German Socio-Economic Panel (GSOEP) study. The SOEP twin project comprises about 350 twin and 950 non-twin pairs aged between 17 and 70. Data were collected between 2009 and 2010, with a focus on personality traits, wellbeing, education, employment, income, living situation, life-satisfaction, and several attitudes. The aim of the Chronotype twin study (ChronoS) was to examine genetic and environmental influences on chronotype (morningness and eveningness), coping strategies, and several aspects of the previous SOEP twin project in a sample of 301 twin pairs aged between 19 and 76 years, recruited in 2010 and 2011. Part of the ChronoS twin sample also participated in the earlier SOEP twin study, representing a second wave of assessments. We briefly describe the design and contents of these three studies as well as selected recent findings.

  14. Erythroblastosis of the Donor Twin of Twin Anemia-Polycythemia Sequence.

    PubMed

    Takeuchi, Miharu; Maruyama, Hidehiko; Oura, Naoko; Kanazawa, Akane; Nakata, Yusei; Minami, Susumu; Kikkawa, Kiyoshi

    2016-08-01

    Twin anemia-polycythemia sequence (TAPS) is a group of disorders in monochorionic twins characterized by a large intertwin hemoglobin difference without amniotic fluid discordance. Reticulocyte count is used to diagnose this condition, but little is known about the role of erythroblasts, which are the prior stage of reticulocytes. In the present case of TAPS, the 25-yr-old Japanese mother showed no signs of oligohydramnios or polyhydramnios throughout gestation. The twins were born at 36 weeks and 6 days, weighing 2,648g and 1,994g. The intertwin hemoglobin difference in umbilical cord blood was (21.1-5.0=) 16.1g/dL and the donor twin showed signs of chronic anemia, including myocardial hypertrophy and pericardial effusion. Erythroblastosis of the donor twin was prolonged (53,088.5, 42,114.8 and 44,217.9/μL on days 0, 1 and 2, respectively). Erythroblastosis, which indicates chronic anemia, is also a good diagnostic indicator of TAPS.

  15. Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting.

    PubMed

    Roosenboom, Jasmien; Indencleef, Karlijne; Hens, Greet; Peeters, Hilde; Christensen, Kaare; Marazita, Mary L; Claes, Peter; Leslie, Elizabeth J; Weinberg, Seth M

    2017-09-08

    Nonsyndromic orofacial clefts (OFCs) are complex traits characterized by multifactorial inheritance and wide phenotypic variability. Numerous studies have shown subtle differences in the faces of unaffected relatives from cleft families compared to controls, the implication being that such outward differences are an incomplete expression reflecting an underlying genetic predisposition. Twins discordant for OFCs provide a unique opportunity to further test this idea, as the unaffected co-twin shares on average 50% (for dizygotic twins) and 100% (for monozygotic twins) of the genetic risk factors as the affected twin. We used 3D surface imaging and spatially-dense morphometry to compare facial shape in a sample of 44 unaffected co-twins and age- and sex-matched unaffected controls (n = 241). Unaffected co-twins showed statistically significant differences in the midface, lateral upper face, and forehead regions, compared to controls. Furthermore, co-twins were characterized by a distinct pattern of midfacial retrusion, broader upper faces, and greater protrusion of the mandible and brow ridges. This same general facial pattern was shown in both unaffected monozygotic and dizygotic co-twin subsets. These results provide additional support that altered facial shape is a phenotypic marker for OFC susceptibility. © 2017 Wiley Periodicals, Inc.

  16. No Evidence for Genetic Contribution of Ocular Dominance: The Guangzhou Twin Eye Study.

    PubMed

    Yan, Xixi; Congdon, Nathan; Zhang, Jian; Chen, Qianyun; Guo, Xinxing; He, Mingguang

    2014-01-01

    The purpose of this study was to explore the heritability of ocular dominance in a classic twin study. A classical twin study. Twins aged 7 to 19 years enrolled from the Guangzhou Twin Registry received comprehensive eye examinations. Ocular dominance was assessed by the "hole-in-the-card test" by trained optometrists. Zygosity of the participants was confirmed by genotyping in all same-sex twin pairs. The pairwise concordance rate was calculated as the main outcome. After excluding 110 children with anisometropia of 2.0 diopters or greater and 24 children with alternating ocular dominance, a total of 941 twin pairs were identified in the analysis, including 596 monozygotic and 345 dizygotic pairs. Right-eye dominance was present in 59.3% of twins with available data. The pairwise concordance rate was 0.529 and 0.530 in monozygotic and dizygotic twin pairs, respectively (P > 0.5). The tetrachoric correlation was 0.043 and 0.035, respectively. When comparing the young twins and their parents, no significant difference in the percentage of offspring with left-eye dominance was found between right × right parent mating group and non-right × right parent mating groups. Genetic factors may not be involved in ocular dominance in Chinese teens and children.

  17. Heritability of eleven metabolic phenotypes in Danish and Chinese twins: a cross-population comparison.

    PubMed

    Li, Shuxia; Duan, Hongmei; Pang, Zengchang; Zhang, Dongfeng; Duan, Haiping; Hjelmborg, Jacob V B; Tan, Qihua; Kruse, Torben A; Kyvik, Kirsten O

    2013-09-01

    A twin-based comparative study on the genetic influences in metabolic endophenotypes in two populations of substantial ethnic, environmental, and cultural differences was performed. Data on 11 metabolic phenotypes including anthropometric measures, blood glucose, and lipids levels as well as blood pressure were available from 756 pairs of Danish twins (309 monozygotic and 447 dizygotic twin pairs) with a mean age of 38 years (range: 18-67) and from 325 pairs of Chinese twins (183 monozygotic and 142 dizygotic twin pairs) with a mean age of 40.5 years (range: 18-69). Twin modeling was performed on full and nested models with the best fitting models selected. Heritability estimates were compared between Danish and Chinese samples to identify differential genetic influences on each of the phenotypes. Except for hip circumference, all other body measures exhibited similar heritability patterns in the two samples with body weight showing only a slight difference. Higher genetic influences were estimated for fasting blood glucose level in Chinese twins, whereas the Danish twins showed more genetic regulation over most lipids phenotypes. Systolic blood pressure was more genetically controlled in Danish than in Chinese twins. Metabolic endophenotypes show disparity in their genetic determinants in populations under distinct environmental conditions. Copyright © 2012 The Obesity Society.

  18. MRI findings in multifetal pregnancies complicated by twin reversed arterial perfusion sequence (TRAP).

    PubMed

    Guimaraes, Carolina V A; Kline-Fath, Beth M; Linam, Leann E; Garcia, Maria A Calvo; Rubio, Eva I; Lim, Foong-Yen

    2011-06-01

    Twin reversed arterial perfusion sequence (TRAP) is a rare complication in multifetal monochorionic pregnancies in which a normal "pump" twin provides circulation to an abnormal acardiac co-twin, resulting in high-output cardiac dysfunction in the pump twin. To define fetal MRI findings of TRAP sequence. Fetal MR images were retrospectively reviewed in 35 pregnancies complicated by TRAP sequence. Abnormalities of the pump twin, acardiac twin, umbilical cord, placenta and amniotic fluid were reviewed. Acardiac twins were classified as: acephalus (51%), anceps (40%), amorphus (9%), acormus (0%). Common findings in acardiac twins include subcutaneous edema (77%), absent cardiac structures (86%), absent or abnormal thoracic cavity (100%), abnormal abdominal organs (100%), superior limbs absent (46%) or abnormal (51%), and inferior limbs present but abnormal (83%). There were pump twin findings of cardiac dysfunction in 43% and intracranial ischemic changes in 3%. Umbilical cord anomalies were present in 97%. Acardiac twins present with a predictable pattern of malformation with poorly developed superior structures, more normally formed inferior structures and absent or rudimentary heart. Although usually absent, abnormal heart structures can be seen and do not exclude TRAP sequence. Pump twins are commonly normal with exception of findings of cardiac dysfunction and possible brain ischemia.

  19. Acardiac twinning: High resolution three-dimensional reconstruction of a low resistance case.

    PubMed

    van Lier, Monique G J T B; Lopriore, Enrico; Vandenbussche, Frank P H A; Streekstra, Geert J; Siebes, Maria; Nikkels, Peter G J; Oepkes, Dick; van Gemert, Martin J C; van den Wijngaard, Jeroen P H M

    2016-03-01

    Acardiac twinning is a rare anomaly of monochorionic twin pregnancies. Acardiac fetuses lack a functional heart but are passively perfused by arterial blood from their pump co-twin. Although four acardiac morphological types have been classified, the various paths of anatomical and circulatory acardiac twin development, and the potential influence of acardiac size and perfusion flow as possible predictors of pump twin morbidity and mortality are poorly understood. This report presents the first high resolution three-dimensional reconstruction of the vasculature of an acardiac twin by cryomicrotome imaging. A small, approximately 7.5-cm-diameter ball-shaped acardius amorphous of 30 5/7 weeks had caused pump twin cardiac decompensation that necessitated an emergency cesarian section. The pump twin survived well. The acardiac body had a partially intact vascular system with large diameter arteries and veins and multiple zones that appeared devoid of perfusion. The three-dimensional reconstruction showed neither recognizable organ structures nor identifiable blood vessels except for the umbilical artery and vein. Our case showed a small acardiac mass with large diameter vessels and consequential low outflow resistance that caused pump twin complications. This indicates that the development of a method that allows pump twin prognosis is likely more successful if based on the use of acardiac versus pump twin perfusion flows than on body volume ratios. © 2015 Wiley Periodicals, Inc.

  20. Mate choice and friendship in twins: evidence for genetic similarity.

    PubMed

    Rushton, J Philippe; Bons, Trudy Ann

    2005-07-01

    This study examined the genetic and environmental contribution to people's preference for spouses and friends to be similar to themselves. In their responses to 130 personality, attitude, and demographic questions, 174 pairs of monozygotic (MZ) twins resembled each other (r= .53) more than did 148 pairs of dizygotic (DZ) twins (r= .32), 322 pairs of spouses (r= .32), and 563 pairs of best friends (r= .20). It was not previously recognized that spouses and friends are as similar as DZ twins. MZ twins also chose spouses and best friends more similar to their co-twins' friends and spouses than did DZ twins (mean rs = .22 vs. .14). The twins' preference for spouses and friends similar to themselves was about 34% due to the twins' genes, 12% due to the twins' common environment, and 54% due to the twins' unique (nonshared) environment. Similarity to partners was more pronounced on the more heritable items than the less heritable items. It is concluded that people are genetically inclined to choose as social partners those who resemble themselves at a genetic level.

  1. A twin study of computer anxiety in Turkish adolescents.

    PubMed

    Deryakulu, Deniz; Calışkan, Erkan

    2012-04-01

    The present study investigated computer anxiety within a sample of Turkish twins aged 10-18. A total of 185 twin-pairs participated in the study. Of the twins, 64 pairs (34.6 percent) were monozygotic (MZ) and 121 pairs (65.4 percent) were dizygotic (DZ). Of the 121 DZ twins, 54 pairs (44.63 percent) were same-sex twins and 67 pairs (55.37 percent) were opposite-sex twins. Computer anxiety was assessed using Computer Anxiety Rating Scale-Turkish Version (CARS-TV), one of the three main scales of "Measuring Technophobia Instruments" developed by Rosen and Weil. The results of paired t test comparisons showed no significant differences in MZ and same-sex DZ twin-pairs' levels of computer anxiety. On the other hand, a significant difference was found in opposite-sex DZ twin-pairs' level of computer anxiety. Interesting enough, males appeared to be more computer anxious than their female co-twins. In the present study, using Falconer's formula, heritability estimate for computer anxiety was derived from correlations based on MZ and DZ twins' mean scores on CARS-TV. The results showed that 57 percent of the variance in computer anxiety was from genetics and 41.5 percent was from nonshared environmental factors. Shared environmental influence, on the other hand, was very small and negligible. Interpretations of results and potential directions for future research are presented.

  2. Symptomatic colloid cysts in the third ventricle of monozygotic twins

    PubMed Central

    Popek, Edith

    2015-01-01

    In this case report we describe colloid cysts in the third ventricles of monozygotic twin sisters. They were 26 years old when their condition was discovered. One woman was admitted to us on an emergency basis, with signs of high intracranial pressure such as unconsciousness and extension posturing. Her sister was also brought to the hospital since she had a history of attacks of headache. They were both operated with removal of the colloid cysts, and the clinical courses are described in the case report. In reviewing the literature another 30 familial cases were found. Of these were two pairs of monozygotic and one pair of dizygotic twins. PMID:25491677

  3. Genetic and environmental contributions to pro-social attitudes: a twin study of social responsibility.

    PubMed Central

    Rushton, J. Philippe

    2004-01-01

    Although 51 twin and adoption studies have been performed on the genetic architecture of antisocial behaviour, only four previous studies have examined a genetic contribution to pro-social behaviour. Earlier work by the author with the University of London Institute of Psychiatry Adult Twin Register found that genes contributed approximately half of the variance to measures of self-report altruism, empathy, nurturance and aggression, including acts of violence. The present study extends those results by using a 22-item Social Responsibility Questionnaire with 174 pairs of monozygotic twins and 148 pairs of dizygotic twins. Forty-two per cent of the reliable variance was due to the twins' genes, 23% to the twins' common environment and the remainder to the twins' non-shared environment. PMID:15615684

  4. A possible genetic influence in parenchyma and small airway changes in COPD: a pilot study of twins using HRCT.

    PubMed

    Tarnoki, D L; Tarnoki, A D; Lazar, Zs; Korom, Cs; Berczi, V; Horvath, I; Karlinger, K

    2014-06-01

    Genetic effects that contribute to the risk of developing chronic obstructive pulmonary disease (COPD) have been reported. Our purpose was to estimate the possible genetic influence on CT features related to COPD in twins. Two COPD-discordant and one COPD-concordant monozygotic (MZ) twin pair, in addition to 2 control dizygotic (DZ) twin pairs underwent a low-dose high resolution computer tomography (HRCT) in inspiration and expiration (Philips Brilliance 16). Monozygotic twins were more similar in lung volume expiration and in air trapping score compared to dizygotics (382 cm(3) vs. 2303 cm(3) and 17.6% vs. 26.6%, respectively). In general, MZ twin pairs showed almost identical HRCT features independently of smoking attitude and COPD status. The dizygotic twin pairs showed larger differences in HRCT features compared to MZ twins. Lung parenchymal and small airway changes (lung density, presence of bronchial wall thickening, bronchiectasis and/or mucus plug formation, air trapping and emphysema score) seem to be genetically associated traits, independently of smoking/COPD history. A future study with a larger sample size should confirm our findings.

  5. Clefts of the lip and palate in twins: use of DNA fingerprinting for zygosity determination.

    PubMed

    Eufinger, H; Rand, S; Scholz, W; Machtens, E

    1993-11-01

    The study of twins is a well-established method for evaluating the relative roles of heredity and environmental factors in the etiology of diseases. Conclusions depend on zygosity determination and on the classification of minor forms of diseases. This paper reports on ten (5 mono- and 5 dizygotic) out of thirteen twin pairs among 1039 patients with cleft lip and palate (n = 677) or cleft palate (n = 362). Zygosity was determined using "DNA fingerprinting" on blood samples in all 10 pairs and on cleft-associated tissue in one pair. Including minor forms of clefting, two of five pairs of monozygotic and two of five pairs of dizygotic twins of the same sex showed concordance. "DNA fingerprinting" should be established as a definitive method for zygosity determination, and the calculation of concordance rates should always include minor forms of diseases.

  6. Verbal and Nonverbal Predictors of Early Language Problems: An Analysis of Twins in Early Childhood Back to Infancy

    ERIC Educational Resources Information Center

    Oliver, Bonamy; Dale, Philip S.; Plomin, Robert

    2004-01-01

    We investigated infant precursors of low language scores in early childhood. The sample included 373 probands in 130 monozygotic (MZ) and 109 same-sex dizygotic (DZ) twin pairs in which at least one member of the pair scored in the lowest 15th percentile of a control sample on a general language factor derived from tester-administered tests at…

  7. Conjoined Twins

    MedlinePlus

    ... uh-gus) twins are commonly joined back to back at the base of the spine and the buttocks. Some pygopagus ... OP-uh-gus), twins are joined back to back along the length of the spine. This ... either face to face or end to end. Many ischiopagus twins share the lower ...

  8. Influences on achieving motor milestones: a twin-singleton study.

    PubMed

    Brouwer, Silvia I; van Beijsterveldt, Toos C E M; Bartels, Meike; Hudziak, James J; Boomsma, Dorret I

    2006-06-01

    In order to determine if twinning impacted achievement of motor milestones the attainment of early motor milestones in twins was examined and compared to published data from singletons of the same age from the same culture and birth years. We examined the influence of twinning, sex, zygosity and birth cohort (1987-2001) on the motor development of twins aged 0 to 24 months. Data on the attainment of motor milestones (turn, sit, crawl, stand and walk) of twins were collected from maternal reports. All data were corrected for gestational age. Data from the twin sample were compared to normative data from singletons, which were available from Child Health Clinics (CHC). Analyses across twin data and the CHC singleton data revealed no differences between twins and singletons in achievement of motor milestones. Girls were able to sit without support slightly earlier than boys, otherwise there were no other sex differences. Birth-order analyses revealed minimal but significant differences in turning over from back to belly and for sitting without support between the first- and second-born. Dizygotic (DZ) twins were faster than monozygotic (MZ) twins in achieving the moment of sit, crawl, stand and walk. Twins born in earlier cohorts were faster in reaching the moment of crawl, sit and walk. It is concluded that there are no differences in time of reaching motor milestones between twins and singletons within the normal range. Sex has minimal to no effect on motor development in early childhood. DZ twins achieve motor milestones sooner than MZ twins. Attainment of gross motor milestones (crawl, stand and walk) is delayed in later birth cohorts.

  9. Twins born following fertility treatment: implications for quantitative genetic studies.

    PubMed

    Goody, Adam; Rice, Frances; Boivin, Jacky; Harold, Gordon T; Hay, Dale F; Thapar, Anita

    2005-08-01

    The rate of multiple births is substantially elevated in women who have had assisted reproduction treatment (ART; approximately 26%) compared to the general population ( approximately 1%), and these offspring are usually included in twin studies. Several studies have attempted to identify possible consequences of undergoing ART on the subsequent offspring. However, most studies have only included singleton births. We first examined whether twins born by ART differed from other twins on measures of childhood psychopathology, putative risk factors and correlates, and secondly tested for differences in the degree of twin similarity for available outcome measures. From a population-based twin sample, 101 families with dizygotic (DZ) twins conceived via ART were identified and compared with 1073 naturally conceived (NC) control DZ twin pairs. Analyses performed were (1) univariate and multivariate comparisons of between-group mean differences; and (2) comparison of twin 1-twin 2 correlations between the groups. The groups differed significantly on demographic factors (parental age, family size and social class) and pregnancy variables (smoking during pregnancy and birthweight) but did not differ on family conflict scores or in the frequency of obstetric complications. Family cohesion was higher in the ART group but this was accounted for by demographic factors. For child psychopathology there was a difference between the groups only for teacher-rated ADHD (Attention Deficit Hyperactivity Disorder). Differences were also found between groups for twin correlations. The differences found between ART and NC twins on group means and twin correlations suggest that researchers should be aware that including ART twins may influence results from twin studies.

  10. Why Accurate Knowledge of Zygosity is Important to Twins.

    PubMed

    Cutler, Tessa L; Murphy, Kate; Hopper, John L; Keogh, Louise A; Dai, Yun; Craig, Jeffrey M

    2015-06-01

    All same-sex dizygotic (DZ) twins and approximately one-third of monozygotic (MZ) twin pairs have separate placentas, making it impossible to use the number of placentas to determine zygosity. Zygosity determination is further complicated because incorrect assumptions are often made, such as that only DZ pairs have two placentas and that all MZ pairs are phenotypically identical. These assumptions, by twins, their families and health professionals, along with the lack of universal zygosity testing for same-sex twins, has led to confusion within the twin community, yet little research has been conducted with twins about their understanding and assumptions about zygosity. We aimed to explore and quantify understanding and assumptions about zygosity using twins attending an Australian twin festival. We recruited 91 twin pairs younger than 18 years of age and their parents, and 30 adult twin pairs who were all uncertain of their zygosity, to complete one pen and paper questionnaire and one online questionnaire about their assumed zygosity, reasons for their assumptions and the importance of accurate zygosity knowledge. Responses were compared with their true zygosity measured using a genetic test. We found a substantial proportion of parents and twins had been misinformed by their own parents or medical professionals, and that knowledge of their true zygosity status provided peace of mind and positive emotional responses. For these reasons we propose universal zygosity testing of same-sex twins as early in life as possible and an increase in education of medical professionals, twins and families of twins about zygosity issues.

  11. Heritability and familial aggregation of diverticular disease: a population-based study of twins and siblings.

    PubMed

    Strate, Lisa L; Erichsen, Rune; Baron, John A; Mortensen, Jakob; Pedersen, Jacob Krabbe; Riis, Anders H; Christensen, Kaare; Sørensen, Henrik Toft

    2013-04-01

    Little is known about the role of heritable factors in diverticular disease. We evaluated the contribution of heritable factors to the development of diverticular disease diagnosed at a hospitalization or outpatient visit. Using nationwide patient registries, we identified 142,123 incident cases of diverticular disease diagnosed at a hospitalization (1977-2011) or an outpatient hospital visit (1995-2011) in Denmark, including cases in 10,420 index siblings and 923 twins. We calculated standardized incidence ratios for siblings versus the general population and concordance rates for monozygotic versus dizygotic twin pairs as measures of relative risk (RR). The RR for diverticular disease in siblings of index cases was 2.92 (95% confidence interval [CI], 2.50-3.39) compared with the general population. The RRs were similar irrespective of the sex of the sibling or index case and were particularly strong in siblings of hospitalized cases and cases that underwent surgery. The proband-wise concordance rate for monozygotic twins was double that of dizygotic twins (0.16 [95% CI, 0.11-0.22] vs 0.07 [95% CI, 0.05-0.11], respectively). The RR of diverticular disease in one twin when the other had diverticular disease was 14.5 (95% CI, 8.9-23) for monozygotic twins compared with 5.5 (95% CI, 3.3-8.6) for dizygotic twins. Associations were stronger in female monozygotic twins compared with male twins (tetrachoric correlation, 0.60 [95% CI, 0.49-0.70] vs 0.33 [95% CI, 0.13-0.51]; P = .03 in an analysis stratified by sex and zygosity). We estimate that 53% (95% CI, 45%-61%) of susceptibility to diverticular disease results from genetic factors. Based on a population-based study in Denmark, genetic factors appear to contribute to development of diverticular disease. Copyright © 2013 AGA Institute. Published by Elsevier Inc. All rights reserved.

  12. Twin's sex and risk of pre-term birth.

    PubMed

    Haghighi, L; Najmi, Z; Barzegar, S H; Barzegar, N

    2013-11-01

    Male sex is a risk factor for pre-term birth (PTB) among singleton pregnancies; however, in twin pregnancies, the effect of sex on PTB is not yet clear. The aim of this study was to evaluate the effect of twin's sex on risk of PTB. During this analytical cross-sectional study, we evaluated the effect of twin's sex, chorionicity and other factors on risk of PTB in 676 pregnant women in a university hospital in Tehran, Iran. Existence of male gender in pregnancy was a risk factor for PTB. Comparing same sex twins together, male-male gender was a risk factor for PTB (OR = 1.67 (1.19-2.34), p = 0.002), early PTB (OR = 1.18 (1.04-1.34), p = 0.01) and very early PTB (OR = 1.06 (1-1.13), p = 0.04). Monoamnion twins were at higher risk for early PTB (OR = 1.44 (1.08-1.92), p = 0.02), and very early PTB (OR = 1.95 (1.1-3.44), p = 0.03) but the risk did not increase in monochorion twins. History of abortion was also shown to be a risk factor (p < 0.05). Maternal age, multiparity, body mass index (BMI) and assisted reproductive techniques (ART) did not reach the significance levels to be considered as risk factors.

  13. Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

    PubMed Central

    Hallmayer, Joachim; Cleveland, Sue; Torres, Andrea; Phillips, Jennifer; Cohen, Brianne; Torigoe, Tiffany; Miller, Janet; Fedele, Angie; Collins, Jack; Smith, Karen; Lotspeich, Linda; Croen, Lisa A.; Ozonoff, Sally; Lajonchere, Clara; Grether, Judith K.; Risch, Neil

    2015-01-01

    Context Autism is considered the most heritable of neurodevelopmental disorders, mainly because of the large difference in concordance rates between monozygotic and dizygotic twins. Objective To provide rigorous quantitative estimates of genetic heritability of autism and the effects of shared environment. Design, Setting, and Participants Twin pairs with at least 1 twin with an autism spectrum disorder (ASD) born between 1987 and 2004were identified through the California Department of Developmental Services. Main Outcome Measures Structured diagnostic assessments (Autism Diagnostic Interview–Revised and Autism Diagnostic Observation Schedule) were completed on 192 twin pairs. Concordance rates were calculated and parametric models were fitted for 2 definitions, 1 narrow (strict autism) and 1 broad (ASD). Results For strict autism, probandwise concordance for male twins was 0.58 for 40 monozygotic pairs (95% confidence interval [CI], 0.42–0.74) and 0.21 for 31 dizygotic pairs (95% CI, 0.09–0.43); for female twins, the concordance was 0.60 for 7 monozygotic pairs (95% CI, 0.28–0.90) and 0.27 for 10 dizygotic pairs (95% CI, 0.09–0.69). For ASD, the probandwise concordance for male twins was 0.77 for 45 monozygotic pairs (95% CI, 0.65–0.86) and 0.31 for 45 dizygotic pairs (95% CI, 0.16–0.46); for female twins, the concordance was 0.50 for 9 monozygotic pairs (95% CI, 0.16–0.84) and 0.36 for 13 dizygotic pairs (95% CI, 0.11–0.60). A large proportion of the variance in liability can be explained by shared environmental factors (55%; 95% CI, 9%–81% for autism and 58%; 95% CI, 30%–80% for ASD) in addition to moderate genetic heritability (37%; 95% CI, 8%–84% for autism and 38%; 95% CI, 14%–67% for ASD). Conclusion Susceptibility to ASD has moderate genetic heritability and a substantial shared twin environmental component. PMID:21727249

  14. Solomon Technique Versus Selective Coagulation for Twin-Twin Transfusion Syndrome.

    PubMed

    Slaghekke, Femke; Oepkes, Dick

    2016-06-01

    Monochorionic twin pregnancies can be complicated by twin-to-twin transfusion syndrome (TTTS). The best treatment option for TTTS is fetoscopic laser coagulation of the vascular anastomoses between donor and recipient. After laser therapy, up to 33% residual anastomoses were seen. These residual anastomoses can cause twin anemia polycythemia sequence (TAPS) and recurrent TTTS. In order to reduce the number of residual anastomoses and their complications, a new technique, the Solomon technique, where the whole vascular equator will be coagulated, was introduced. The Solomon technique showed a reduction of recurrent TTS compared to the selective technique. The incidence of recurrent TTTS after the Solomon technique ranged from 0% to 3.9% compared to 5.3-8.5% after the selective technique. The incidence of TAPS after the Solomon technique ranged from 0% to 2.9% compared to 4.2-15.6% after the selective technique. The Solomon technique may improve dual survival rates ranging from 64% to 85% compared to 46-76% for the selective technique. There was no difference reported in procedure-related complications such as intrauterine infection and preterm premature rupture of membranes. The Solomon technique significantly reduced the incidence of TAPS and recurrent TTTS and may improve survival and neonatal outcome, without identifiable adverse outcome or complications; therefore, the Solomon technique is recommended for the treatment of TTTS.

  15. Yoruba customs and beliefs pertaining to twins.

    PubMed

    Leroy, Fernand; Olaleye-Oruene, Taiwo; Koeppen-Schomerus, Gesina; Bryan, Elizabeth

    2002-04-01

    The Yoruba are an important ethnic group mainly occupying Southwestern Nigeria. Mainly for genetic reasons, this very large tribe happens to present the highest dizygotic twinning rate in the world (4.4 % of all maternities). The high perinatal mortality rate associated with such pregnancies has contributed to the integration of a special twin belief system within the African traditional religion of this tribe. The latter is based on the concept of a supreme deity called Olodumare or Olorun, assisted by a series of secondary gods (Orisha) while Yoruba religion also involves immortality and reincarnation of the soul based on the animistic cult of ancestors. Twins are therefore given special names and believed to detain special preternatural powers. In keeping with their refined artistic tradition, the Yoruba have produced numerous wooden statuettes called Ibejis that represent the souls of deceased newborn twins and are involved in elaborate rituals. Among Yoruba traditional beliefs and lore some twin-related themes are represented which are also found in other parts of the world. Basic features of the original Yoruba beliefs have found their way into the religious traditions of descendants of African slaves imported in the West Indies and in South America.

  16. Body odor similarity in noncohabiting twins.

    PubMed

    Roberts, S Craig; Gosling, L Morris; Spector, Tim D; Miller, Paul; Penn, Dustin J; Petrie, Marion

    2005-10-01

    There is currently considerable interest in biometric approaches using human odor as a marker of disease or genetic individuality. Body odor is also thought to be used during mate choice to select genetically compatible mates. The idea that body odor reveals information about both genetic identity and genetic similarity is most readily tested by examining odor in twin pairs. However, although this idea can be traced back 130 years to Francis Galton in 1875, most studies using dogs fail to control for shared environmental effects associated with cohabitation. Here we show that odors of identical twins (but not dizygotic twins) can be matched by human sniffers at rates better than chance, even when the twins are living apart. In addition, matching frequencies for identical twin odors were not significantly different from those for duplicate odors from the same individual. These results indicate an important genetic influence on body odor and the potential for developing technologies for human odor printing in relation to underlying genotype.

  17. Inter-speaker articulatory variability during vowel-consonant-vowel sequences in twins and unrelated speakers.

    PubMed

    Weirich, Melanie; Lancia, Leonardo; Brunner, Jana

    2013-11-01

    The purpose of this study is to examine and compare the amount of inter-speaker variability in the articulation of monozygotic twin pairs (MZ), dizygotic twin pairs (DZ), and pairs of unrelated twins with the goal of examining in greater depth the influence of physiology on articulation. Physiological parameters are assumed to be very similar in MZ twin pairs in contrast to DZ twin pairs or unrelated speakers, and it is hypothesized that the speaker specific shape of articulatory looping trajectories of the tongue is at least partly dependent on biomechanical properties and the speaker's individual physiology. By means of electromagnetic articulography (EMA), inter-speaker variability in the looping trajectories of the tongue back during /VCV/ sequences is analyzed. Results reveal similar looping patterns within MZ twin pairs but in DZ pairs differences in the shape of the loop, the direction of the upward and downward movement, and the amount of horizontal sliding movement at the palate are found.

  18. Clinical outcomes after assisted reproductive technology in twin pregnancies: chorionicity-based comparison

    PubMed Central

    Sun, Luming; Zou, Gang; Wei, Xing; Chen, Yan; Zhang, Jun; Okun, Nanette; Duan, Tao

    2016-01-01

    The chorionicity–based evaluation of the perinatal risk in twin pregnancies after assisted reproductive technology (ART) is lacking. A retrospective review was performed of all twin pregnancies monitored prenatally and delivered at our hospital between 2010 and 2014. Chorionicity was diagnosed by ultrasound examination at first trimester and confirmed by postnatal pathology. Pregnancy and perinatal outcomes were prospectively recorded. Adjusted odds ratios (aOR) with 95% confidence intervals (CI) were calculated in a logistic regression model. A total of 1153 twin pregnancies were analyzed. The occurrence of preterm premature rupture of membranes (PPROM) was 3 times as frequent in monochorionic diamniotic (MCDA) twin pregnancies after ART as in those spontaneous counterparts (aOR 3.0; 95%CI 1.1–3.2). The prevalence of intrahepatic cholestasis of pregnancies (ICP) was significantly higher in dichorionic diamniotic (DCDA) twin pregnancies following ART compared to spontaneous DCDA pregnancies (aOR 3.3; 95%CI 1.3–5.6). Perinatal outcomes did not differ between two conception methods, either in MCDA or DCDA twin pregnancies. Based on differentiation of chorionicity, ART is associated with the increased risk of PPROM in MCDA twin pregnancies and with a higher rate of ICP in DCDA twin gestations. ART does not increase adversity of perinatal outcomes in twin pregnancies. PMID:27243373

  19. Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome

    SciTech Connect

    Oestavik, R.E.; Eiklid, K.; Oerstavik, K.H.

    1995-03-27

    Wiedemann-Beckwith syndrome (WBS) is a syndrome including exomphalos, macroglossia, and generalized overgrowth. The locus has been assigned to 11p15, and genomic imprinting may play a part in the expression of one or more genes involved. Most cases are sporadic. An excess of female monozygotic twins discordant for WBS have been reported, and it has been proposed that this excess could be related to the process of X chromosome inactivation. We have therefore studied X chromosome inactivation in 13-year-old monozygotic twin girls who were discordant for WBS. In addition, both twins had Tourette syndrome. The twins were monochorionic and therefore the result of a late twinning process. This has also been the case in previously reported discordant twin pairs with information on placentation. X chromosome inactivation was determined in DNA from peripheral blood cells by PCR analysis at the androgen receptor locus. The affected twin had a completely skewed X inactivation, where the paternal allele was on the active X chromosome in all cells. The unaffected twin had a moderately skewed X inactivation in the same direction, whereas the mother had a random pattern. Further studies are necessary to establish a possible association between the expression of WBS and X chromosome inactivation. 18 refs., 2 figs., 1 tab.

  20. Education in Twins and Their Parents Across Birth Cohorts Over 100 years: An Individual-Level Pooled Analysis of 42-Twin Cohorts.

    PubMed

    Silventoinen, Karri; Jelenkovic, Aline; Latvala, Antti; Sund, Reijo; Yokoyama, Yoshie; Ullemar, Vilhelmina; Almqvist, Catarina; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth J F; Kandler, Christian; Honda, Chika; Inui, Fujio; Iwatani, Yoshinori; Watanabe, Mikio; Rebato, Esther; Stazi, Maria A; Fagnani, Corrado; Brescianini, Sonia; Hur, Yoon-Mi; Jeong, Hoe-Uk; Cutler, Tessa L; Hopper, John L; Busjahn, Andreas; Saudino, Kimberly J; Ji, Fuling; Ning, Feng; Pang, Zengchang; Rose, Richard J; Koskenvuo, Markku; Heikkilä, Kauko; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Rijsdijk, Fruhling; Sung, Joohon; Kim, Jina; Lee, Jooyeon; Lee, Sooji; Nelson, Tracy L; Whitfield, Keith E; Tan, Qihua; Zhang, Dongfeng; Llewellyn, Clare H; Fisher, Abigail; Burt, S Alexandra; Klump, Kelly L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Medland, Sarah E; Martin, Nicholas G; Montgomery, Grant W; Magnusson, Patrik K E; Pedersen, Nancy L; Dahl Aslan, Anna K; Corley, Robin P; Huibregtse, Brooke M; Öncel, Sevgi Y; Aliev, Fazil; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Willemsen, Gonneke; Bartels, Meike; van Beijsterveldt, Catharina E M; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Harris, Jennifer R; Brandt, Ingunn; Nilsen, Thomas S; Rasmussen, Finn; Tynelius, Per; Baker, Laura A; Tuvblad, Catherine; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Gatz, Margaret; Butler, David A; Lichtenstein, Paul; Goldberg, Jack H; Harden, K Paige; Tucker-Drob, Elliot M; Duncan, Glen E; Buchwald, Dedra; Tarnoki, Adam D; Tarnoki, David L; Franz, Carol E; Kremen, William S; Lyons, Michael J; Maia, José A; Freitas, Duarte L; Turkheimer, Eric; Sørensen, Thorkild I A; Boomsma, Dorret I; Kaprio, Jaakko

    2017-10-01

    Whether monozygotic (MZ) and dizygotic (DZ) twins differ from each other in a variety of phenotypes is important for genetic twin modeling and for inferences made from twin studies in general. We analyzed whether there were differences in individual, maternal and paternal education between MZ and DZ twins in a large pooled dataset. Information was gathered on individual education for 218,362 adult twins from 27 twin cohorts (53% females; 39% MZ twins), and on maternal and paternal education for 147,315 and 143,056 twins respectively, from 28 twin cohorts (52% females; 38% MZ twins). Together, we had information on individual or parental education from 42 twin cohorts representing 19 countries. The original education classifications were transformed to education years and analyzed using linear regression models. Overall, MZ males had 0.26 (95% CI [0.21, 0.31]) years and MZ females 0.17 (95% CI [0.12, 0.21]) years longer education than DZ twins. The zygosity difference became smaller in more recent birth cohorts for both males and females. Parental education was somewhat longer for fathers of DZ twins in cohorts born in 1990-1999 (0.16 years, 95% CI [0.08, 0.25]) and 2000 or later (0.11 years, 95% CI [0.00, 0.22]), compared with fathers of MZ twins. The results show that the years of both individual and parental education are largely similar in MZ and DZ twins. We suggest that the socio-economic differences between MZ and DZ twins are so small that inferences based upon genetic modeling of twin data are not affected.

  1. A Twin Study of Sleep Duration and Body Mass Index

    PubMed Central

    Watson, Nathaniel F.; Buchwald, Dedra; Vitiello, Michael V.; Noonan, Carolyn; Goldberg, Jack

    2010-01-01

    Study Objective: To determine the relative importance of genetic and environmental contributions to the association between sleep duration and body mass index (BMI). Methods: Twins from the University of Washington Twin Registry, a community-based sample of U.S. twins, provided self-reported height and weight for BMI calculation and habitual sleep duration. A generalized estimating equation model evaluated the overall and within twin pair effects of sleep duration on BMI with and without stratification by twin zygosity. A structural equation model was used to assess genetic and non-genetic contributions to BMI and sleep duration. Results: The study sample included 1,224 twins comprised of 423 monozygotic, 143 dizygotic, and 46 indeterminate pairs. The mean age was 36.9 years; 69% were female. A multivariate adjusted analysis of all twins revealed an elevated mean BMI (26.0 kg/m2) in short sleeping twins (< 7 h/night) compared to twins sleeping 7–8.9 h/night (BMI 24.8 kg/m2; p < 0.01). The within-twin pair analysis revealed similar results, with the short sleeping twins having a mean BMI of 25.8 kg/m2 compared to 24.9 kg/m2 for the 7–8.9 h/night sleep duration group (p = 0.02). When restricted to monozygotic twins, the within-twin pair analysis continued to reveal an elevated BMI in the short sleeping twins (25.7 kg/m2) compared to the 7–8.9 h/night reference group (24.7 kg/m2; p = 0.02). No differences in mean BMI were observed between the 7–8.9 h/night reference group twins and longer sleeping twins (≥ 9 h/night) in the analysis of all twins, the overall within-twin pair analysis, or the within-twin pair analysis stratified by zygosity. The heritability of sleep duration was 0.31 (p = 0.08) and BMI 0.76 (p < 0.01). Bivariate genetic analysis revealed little evidence of shared genetics between sleep duration and BMI (p = 0.28). Conclusions: Short sleep was associated with elevated BMI following careful adjustment for genetics and shared environment. These

  2. Estimating heritability for cause specific mortality based on twin studies.

    PubMed

    Scheike, Thomas H; Holst, Klaus K; Hjelmborg, Jacob B

    2014-04-01

    There has been considerable interest in studying the magnitude and type of inheritance of specific diseases. This is typically derived from family or twin studies, where the basic idea is to compare the correlation for different pairs that share different amount of genes. We here consider data from the Danish twin registry and discuss how to define heritability for cancer occurrence. The key point is that this should be done taking censoring as well as competing risks due to e.g.  death into account. We describe the dependence between twins on the probability scale and show that various models can be used to achieve sensible estimates of the dependence within monozygotic and dizygotic twin pairs that may vary over time. These dependence measures can subsequently be decomposed into a genetic and environmental component using random effects models. We here present several novel models that in essence describe the association in terms of the concordance probability, i.e., the probability that both twins experience the event, in the competing risks setting. We also discuss how to deal with the left truncation present in the Nordic twin registries, due to sampling only of twin pairs where both twins are alive at the initiation of the registries.

  3. Twin birth is not a risk factor for seizures.

    PubMed

    Berkovic, S F; Howell, R A; Hay, D A; Hopper, J L

    1993-12-01

    There is a belief that perinatal factors are a major cause of epilepsy. We studied a community-based sample of twins, a group with a marked excess of adverse perinatal events. The observed number of non-twin siblings with seizures did not differ from that predicted by the age-specific cumulative incidence rate of seizures (4.2% at age 10 years) in the twins. The types of epilepsies in the twins were largely benign and self-limited and not those associated with brain damage. Zygosity, birth order, and birth weight did not predict affected status. Within affected sibships, the frequency of seizures in co-twins of dizygotic probands (9%) was not different from the frequency in non-twin siblings (12%) but was much less than the frequency in co-twins of monozygotic probands (38%; p < 0.001), reflecting a major genetic component to certain epilepsies. These data show that twins do not have an increased risk of seizures and strongly suggest that perinatal factors have little bearing on the etiology of the common epilepsies in the community.

  4. Neuropathologic assessment of dementia markers in identical and fraternal twins

    PubMed Central

    Iacono, Diego; Volkman, Inga; Nennesmo, Inger; Pedersen, Nancy L.; Fratiglioni, Laura; Johansson, Boo; Karlsson, David; Winblad, Bengt; Gatz, Margaret

    2014-01-01

    Twin studies are an incomparable source of investigation to shed light on genetic and non-genetic components of neurodegenerative diseases, as Alzheimer’s disease (AD). Detailed clinicopathologic correlations using twin longitudinal data and postmortem examinations are mostly missing. We describe clinical and pathologic findings of 7 monozygotic (MZ) and dizygotic (DZ) twin pairs. Our findings show good agreement between clinical and pathologic diagnoses in the majority of the twin pairs, with greater neuropathologic concordance in MZ than DZ twins. Greater neuropathologic concordance was found for β-amyloid than tau pathology within the pairs. ApoE4 was associated with higher β-amyloid and earlier dementia onset, and importantly, higher frequency of other co-occurring brain pathologies, regardless of the zygosity. Dementia onset, dementia duration, difference between twins in age at dementia onset and at death, did not correlate with AD pathology. These clinicopathologic correlations of older identical and fraternal twins support the relevance of genetic factors in AD, but not their sufficiency to determine the pathology, and consequently the disease, even in monozygotic twins. It is the interaction among genetic and non-genetic risks which plays a major role in influencing, or probably determining, the degeneration of those brain circuits associated with pathology and cognitive deficits in AD. PMID:24450926

  5. Neuropathologic assessment of dementia markers in identical and fraternal twins.

    PubMed

    Iacono, Diego; Volkman, Inga; Nennesmo, Inger; Pedersen, Nancy L; Fratiglioni, Laura; Johansson, Boo; Karlsson, David; Winblad, Bengt; Gatz, Margaret

    2014-07-01

    Twin studies are an incomparable source of investigation to shed light on genetic and non-genetic components of neurodegenerative diseases, as Alzheimer's disease (AD). Detailed clinicopathologic correlations using twin longitudinal data and post-mortem examinations are mostly missing. We describe clinical and pathologic findings of seven monozygotic (MZ) and dizygotic (DZ) twin pairs. Our findings show good agreement between clinical and pathologic diagnoses in the majority of the twin pairs, with greater neuropathologic concordance in MZ than DZ twins. Greater neuropathologic concordance was found for β-amyloid than tau pathology within the pairs. ApoE4 was associated with higher β-amyloid and earlier dementia onset, and importantly, higher frequency of other co-occurring brain pathologies, regardless of the zygosity. Dementia onset, dementia duration, difference between twins in age at dementia onset and at death, did not correlate with AD pathology. These clinicopathologic correlations of older identical and fraternal twins support the relevance of genetic factors in AD, but not their sufficiency to determine the pathology, and consequently the disease, even in monozygotic twins. It is the interaction among genetic and non-genetic risks which plays a major role in influencing, or probably determining, the degeneration of those brain circuits associated with pathology and cognitive deficits in AD. © 2014 International Society of Neuropathology.

  6. Twinning in humans: maternal heterogeneity in reproduction and survival

    PubMed Central

    Robson, Shannen L.; Smith, Ken R.

    2011-01-01

    While humans usually give birth to singletons, dizygotic twinning occurs at low rates in all populations worldwide. We evaluate two hypotheses that have differing expectations about the effects of bearing twins on maternal lifetime reproduction and survival. The maternal depletion hypothesis argues that mothers of twins will suffer negative outcomes owing to the higher physiological costs associated with bearing multiples. Alternatively, twinning, while costly, may indicate mothers with a greater capacity to bear that cost. Drawing from the vast natural fertility data in the Utah Population Database, we compared the reproductive and survival events of 4603 mothers who bore twins and 54 183 who had not. These mothers were born between 1807 and 1899, lived at least to the age of 50 years and married once to men who were alive when their wives were 50. Results from proportional hazards and regression analyses are consistent with the second hypothesis. Mothers of twins exhibit lower postmenopausal mortality, shorter average inter-birth intervals, later ages at last birth and higher lifetime fertility than their singleton-only bearing counterparts. From the largest historical sample of twinning mothers yet published, we conclude that bearing twins is more likely for those with a robust phenotype and is a useful index of maternal heterogeneity. PMID:21561975

  7. Genetic and experiential influences on behavior: Twins reunited at seventy-eight years.

    PubMed

    Segal, Nancy L; Cortez, Franchesca A; Zettel-Watson, Laura; Cherry, Barbara J; Mechanic, Mindy; Munson, Jaimee E; Velázquez, Jaime M A; Reed, Brandon

    2015-01-01

    Twins living in different countries offer opportunities to explore associations between observed differences and experiential effects. This report compared the life histories, cognitive abilities, personality traits, psychomotor skills, medical characteristics, job satisfaction, social support and social relations of dizygotic (DZ) female twins reunited at 78, the world's longest separated set. The twins' advanced age also enabled a study of how co-twin differences in aging may be associated with current behavioral and social differences. Consistent with previous studies, these dizygotic reared apart (DZA) twins showed discordance across some, but not all, traits. Their different rearing situations and life histories may explain current differences in their responses to meeting their twin. This case highlights the importance of both genetic and rearing factors on behavior, but does not allow firm conclusions regarding the extent to which these sources explain individual developmental differences. However, such data contribute to the growing number of cross-culturally separated twins, generating novel hypotheses that may be assessed using larger samples.

  8. Use of a twin dataset to identify AMD-related visual patterns controlled by genetic factors

    NASA Astrophysics Data System (ADS)

    Quellec, Gwénolé; Abràmoff, Michael D.; Russell, Stephen R.

    2010-03-01

    The mapping of genotype to the phenotype of age-related macular degeneration (AMD) is expected to improve the diagnosis and treatment of the disease in a near future. In this study, we focused on the first step to discover this mapping: we identified visual patterns related to AMD which seem to be controlled by genetic factors, without explicitly relating them to the genes. For this purpose, we used a dataset of eye fundus photographs from 74 twin pairs, either monozygotic twins, who have the same genotype, or dizygotic twins, whose genes responsible for AMD are less likely to be identical. If we are able to differentiate monozygotic twins from dizygotic twins, based on a given visual pattern, then this pattern is likely to be controlled by genetic factors. The main visible consequence of AMD is the apparition of drusen between the retinal pigment epithelium and Bruch's membrane. We developed two automated drusen detectors based on the wavelet transform: a shape-based detector for hard drusen, and a texture- and color- based detector for soft drusen. Forty visual features were evaluated at the location of the automatically detected drusen. These features characterize the texture, the shape, the color, the spatial distribution, or the amount of drusen. A distance measure between twin pairs was defined for each visual feature; a smaller distance should be measured between monozygotic twins for visual features controlled by genetic factors. The predictions of several visual features (75.7% accuracy) are comparable or better than the predictions of human experts.

  9. Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders.

    PubMed

    Kato, T; Iwamoto, K; Kakiuchi, C; Kuratomi, G; Okazaki, Y

    2005-07-01

    Classical twin research focused on differentiating genetic factors from environmental factors by comparing the concordance rate between monozygotic (MZ) and dizygotic twins. On the other hand, recent twin research tries to identify genetic or epigenetic differences between MZ twins discordant for mental disorders. There are a number of reports of MZ twins discordant for genetic disorders caused by genetic or epigenetic differences of known pathogenic genes. In the case of mental disorder research, for which the causative gene has not been established yet, we are trying to identify the 'pathogenic gene' by comprehensive analysis of genetic or epigenetic difference between discordant MZ twins. To date, no compelling evidence suggesting such difference between MZ twins has been reported. However, if the genetic or epigenetic difference responsible for the discordant phenotype is found, it will have impact on the biology of mental disorder, in which few conclusive molecular genetic evidences have been obtained.

  10. Prediction of single fetal demise after laser therapy for twin-twin transfusion syndrome.

    PubMed

    Eschbach, S J; Boons, L S T M; Wolterbeek, R; Middeldorp, J M; Klumper, F J C M; Lopriore, E; Oepkes, D; Haak, M C

    2016-03-01

    Single fetal demise (SFD) occurs in up to 20% of monochorionic pregnancies treated with laser coagulation for twin-twin transfusion syndrome (TTTS). We aimed to determine the independent factors associated with SFD to improve outcome in the care of TTTS pregnancies in the future. This was a case-control study on twin pregnancies treated for TTTS between 2007 and 2013. Data on ultrasound, laser surgery and outcome were retrieved from our monochorionic twin database. We analyzed separately cases of SFD in donor and recipient twins, and compared them with treated pregnancies that resulted in two live births. Of the 273 TTTS pregnancies treated with laser coagulation, SFD occurred in 30 donors (11.0%) and 27 recipients (9.9%). In 67% of pregnancies with SFD, the death occurred within 1 week after laser treatment. For SFD in donors, absent/reversed end-diastolic flow in the umbilical artery was the strongest predictor (odds ratio (OR), 3.0 (95% CI, 1.1-8.0); P = 0.01), followed by the presence of an arterioarterial anastomosis (OR, 4.2 (95% CI, 1.4-13.1); P = 0.03) and discordance in estimated fetal weight (OR, 1.0 (95% CI, 1.0-1.1); P = 0.04). For SFD in recipients, independent predictors were absent/reversed A-wave in the ductus venosus (OR, 3.6 (95% CI, 1.2-10.5); P = 0.02) and the absence of recipient-to-donor arteriovenous anastomoses (OR, 10.6 (95% CI, 1.8-62.0); P < 0.01). Our findings confirm earlier reports that suggest that abnormal blood flow is associated with SFD after laser treatment for TTTS. The association of SFD with the type of anastomoses is a new finding. We speculate that the type of anastomoses present determines the degree of hemodynamic change during laser therapy. Future strategies should aim at stabilizing fetal circulation before laser therapy to decrease the vulnerability to acute preload and afterload changes. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2015 ISUOG. Published by

  11. Twin-to-twin transfusion syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/001595.htm Twin-to-twin transfusion syndrome To use the sharing features on this page, please enable JavaScript. Twin-to-twin transfusion syndrome is a rare condition ...

  12. Characteristics and concordance of autism spectrum disorders among 277 twin pairs.

    PubMed

    Rosenberg, Rebecca E; Law, J Kiely; Yenokyan, Gayane; McGready, John; Kaufmann, Walter E; Law, Paul A

    2009-10-01

    To examine patterns of autism spectrum disorder (ASD) inheritance and other features in twin pairs by zygosity, sex, and specific ASD diagnosis. Cross-sectional study. Internet-based autism registry for US residents. Survey results from 277 twin pairs (210 dizygotic [DZ] and 67 monozygotic [MZ]) aged 18 years or younger with at least 1 affected twin. Zygosity and sex. Concordance within twin pairs of diagnosis, natural history, and results from standardized autism screening. Pairwise ASD concordance was 31% for DZ and 88% for MZ twins. Female and male MZ twins were 100% and 86% concordant, respectively, and DZ twin pairs with at least 1 female were less likely to be concordant (20%) than were male-male DZ twin pairs (40%). The hazard ratio for ASD diagnosis of the second twin after a first-twin diagnosis was 7.48 for MZ vs DZ twins (95% confidence interval, 3.8-14.7). Affected DZ individual twins had an earlier age at first parental concern and more frequent diagnoses of intellectual disability than did MZ twins; MZ twins had a higher prevalence of bipolar disorder and Asperger syndrome and higher concordance of the latter. Results of autism screening correlated with parent-reported ASD status in more than 90% of cases. Our data support greater ASD concordance in MZ vs DZ twins. Overall higher functioning, psychiatric comorbidity, and Asperger syndrome concordance among affected MZ vs DZ twins may also suggest differential heritability for different ASDs. For families in which one MZ twin is diagnosed with ASD, the second twin is unlikely to receive an ASD diagnosis after 12 months. In addition, Internet parent report of ASD status is valid.

  13. Individual differences in locus of control during the second half of the life span for identical and fraternal twins reared apart and reared together.

    PubMed

    Pedersen, N L; Gatz, M; Plomin, R; Nesselroade, J R; McClearn, G E

    1989-07-01

    The relative influences of genetic and environmental factors for components of locus of control (LOC) were examined in the Swedish Adoption/Twin Study of Aging. The sample consisted of 84 pairs of monozygotic twins separated at an early age and reared apart, 173 pairs of dizygotic twins reared apart, 129 monozygotic pairs reared together, and 168 dizygotic pairs reared together. At the time of data collection, 72% were over 50 years of age. Three LOC components were measured in a mailed questionnaire: sense of personal control or lack of control over the direction of one's own life (Life Direction), beliefs about how responsible people are for misfortunes in their lives (Responsibility), and beliefs concerning the role of luck in determining people's outcomes (Luck). Model-fitting results indicated that genetic influences were of importance for Life Direction and Responsibility, accounting for somewhat over 30% of the variance in each component, while environmental influences explained twin similarity for Luck.

  14. Genetic and Environmental Influences on Two Measures of Speed of Information Processing and Their Relation to Psychometric Intelligence: Evidence from the German Observational Study of Adult Twins.

    ERIC Educational Resources Information Center

    Neubauer, Alioscha C.; Spinath, Frank M.; Riemann, Rainer; Angleitner, Alois; Borkenau, Peter

    2000-01-01

    Administered 2 elementary cognitive task (ECT) tests and 2 psychometric intelligence tests to 169 monozygotic and 131 dizygotic pairs of twins in Germany. Reaction times correlated negatively with psychometric intelligence, and habitability estimates were substantial for both psychometric intelligence and reaction times on the ECTs. Multivariate…

  15. Clinical and placental characteristics in four new cases of twin anemia-polycythemia sequence.

    PubMed

    Weingertner, A S; Kohler, A; Kohler, M; Bouffet, N; Hunsinger, M C; Mager, C; Hornecker, F; Neumann, M; Schmerber, E; Tanghe, M; Viville, B; Favre, R

    2010-04-01

    We report and analyze four new cases of spontaneous twin anemia-polycythemia sequence (TAPS) and discuss antenatal management by fetoscopic laser coagulation for this uncommon form of chronic intertwin transfusion. The clinical course and placental characteristics of four pairs of monochorionic-diamniotic (MCDA) twins with spontaneous TAPS, of which one was treated with fetoscopic laser surgery, are described. For the three cases that did not undergo intrauterine intervention, serial Doppler measurement revealed a gradual increase in the middle cerebral artery peak systolic velocity (MCA-PSV) in the donor and a concomitant decrease in the recipient. These twins were born at between 32 and 34 weeks' gestation by Cesarean section. At birth, the donor twins were severely anemic and the recipient twins were polycythemic. Placental injection studies revealed a few small arteriovenous (AV) and venoarterial anastomoses. In the fourth case, because of the high suspicion of TAPS on MCA-PSV data at 24 weeks' gestation, fetoscopic laser coagulation of three small AV anastomoses was successfully performed. No hematological abnormalities were detected at birth. TAPS is a newly described form of chronic twin-to-twin transfusion associated with chronic anemia in the donor and polycythemia in the recipient, without twin oligo-polyhydramnios sequence (TOPS). The monitoring of MCDA pregnancies should include measurement of MCA-PSV in both fetuses even in the absence of intertwin discordance in amniotic fluid volume. Early detection of TAPS could indicate fetoscopic laser coagulation of AV anastomoses. Copyright 2009 ISUOG. Published by John Wiley & Sons, Ltd.

  16. Intrapair differences in personality and cognitive ability among young monozygotic twins distinguished by chorion type.

    PubMed

    Sokol, D K; Moore, C A; Rose, R J; Williams, C J; Reed, T; Christian, J C

    1995-09-01

    We evaluated placentation effects on behavioral resemblance of 44 pairs of monozygotic (MZ) twin children. Tested at ages 4-6, the twins' zygosity and placental type had been determined at their delivery. The sample included 23 monochorionic (MC) and 21 dichorionic (DC) MZ twin pairs: DC-MZ twins result from separation of blastomeres within 72 h of ovulation; MC-MZ twins arise from later duplication of the inner cell mass. Twins were individually administered the McCarthy Scales of Cognitive Ability, while their mothers separately rated each cotwin on an individualized 280-item form of the Personality Inventory for Children (PIC). Absolute differences between MC-MZ cotwins were smaller than those between DC-MZ cotwins for all 20 PIC scales, significantly so for 3 of 4 factor scales, 8 of 12 clinical scales, and 2 of 4 validity/screening scales from the PIC; in contrast, no consistent differences in intrapair resemblance of mono- and dichorionic MZ twins were found for the McCarthy Scales. The chorion differences found in the PIC data cannot be due to genetic differences, because all pairs are monozygotes; nor are they associated with differences in parity, gestational age, birth weight, maternal education, palmar dermatoglyphic asymmetry, or maternal knowledge of chorion type. We interpret our findings as suggestive evidence that variation in timing of embryological division, with effects on MZ twins' placental vasculature, has significant consequences for some dimensions of their behavioral development, as well.

  17. In utero drugs of abuse exposure testing for newborn twins.

    PubMed

    Wang, Ping; Molina, Claudia P; Maldonado, Joyce E; Bernard, David W

    2010-03-01

    This report describes testing of a case of in utero drugs of abuse exposure in which discordant results were seen between urine and meconium, and between twin meconium samples. The discordance between urine and meconium could be explained by the differences in detection window, threshold concentration and screening technology, and the discordance between dizygotic twin meconium samples could be explained by the differences in drug diffusion and placental and fetal biotransformation of drugs. The meconium sample of one twin screened negative for benzodiazepines was reported positive in the confirmation assay with higher sensitivity and a lower cut-off concentration. Negative screening results of drugs of abuse should be interpreted with caution, taking into account matrix type, reactivity of drugs in the assay and cut-off concentration. If screening results are inconsistent with each other or with the clinical scenario, confirmation testing using more sensitive and specific methods with lower cut-offs is warranted.

  18. Face processing among twins with and without autism: social correlates and twin concordance.

    PubMed

    Neuhaus, Emily; Kresse, Anna; Faja, Susan; Bernier, Raphael A; Webb, Sara Jane

    2016-01-01

    Autism spectrum disorder (ASD) has a strong heritable basis, as evidenced by twin concordance rates. Within ASD, symptom domains may arise via independent genetic contributions, with varying heritabilities and genetic mechanisms. In this article, we explore social functioning in the form of (i) electrophysiological and behavioral measures of face processing (P1 and N170) and (ii) social behavior among child and adolescent twins with (N = 52) and without ASD (N = 66). Twins without ASD had better holistic face processing and face memory, faster P1 responses and greater sensitivity to the effects of facial inversion on P1. In contrast, N170 responses to faces were similar across diagnosis, with more negative amplitudes for faces vs non-face images. Across the sample, stronger social skills and fewer social difficulties were associated with faster P1 and N170 responses to upright faces, and better face memory. Twins were highly correlated within pairs across most measures, but correlations were significantly stronger for monozygotic vs dizygotic pairs on N170 latency and social problems. We suggest common developmental influences across twins for face processing and social behavior, but highlight (i) neural speed of face processing and (ii) social difficulties as important avenues in the search for genetic underpinnings in ASD. © The Author (2015). Published by Oxford University Press. For Permissions, please email: journals.permissions@oup.com.

  19. Familial risk and ADHD-specific neural activity revealed by case-control, discordant twin pair design.

    PubMed

    Godinez, Detre A; Willcutt, Erik G; Burgess, Gregory C; Depue, Brendan E; Andrews-Hanna, Jessica R; Banich, Marie T

    2015-09-30

    Individuals with ADHD, as well as their family members who do not meet clinical criteria, have shown deficits in executive function. However, it remains unclear whether underlying neural alterations are familial or ADHD-specific. To investigate this issue, neural activation underlying executive function was assessed using functional magnetic resonance imaging during performance of a Stroop task in three groups of individuals: 20 young adults who were diagnosed with ADHD in childhood, their 20 dizygotic co-twins without ADHD in childhood, and 20 unrelated controls selected from dizygotic twin pairs in which neither twin had ADHD in childhood (total n=60). Implicating the frontoparietal network as a location of effects specific to ADHD, activation in the superior frontal (Brodmann's Area - BA 6) and parietal regions (BA 40) was significantly reduced in twins with childhood ADHD compared to both their control co-twins and unrelated control twins. Consistent with familial influences, activity in the anterior cingulate and insula was significantly reduced in both the twins with ADHD and their co-twins compared to the unrelated controls. These results show that both ADHD-specific and familial influences related to an ADHD diagnosis impact neural systems underlying executive function.

  20. The CODATwins Project: The Cohort Description of Collaborative Project of Development of Anthropometrical Measures in Twins to Study Macro-Environmental Variation in Genetic and Environmental Effects on Anthropometric Traits.

    PubMed

    Silventoinen, Karri; Jelenkovic, Aline; Sund, Reijo; Honda, Chika; Aaltonen, Sari; Yokoyama, Yoshie; Tarnoki, Adam D; Tarnoki, David L; Ning, Feng; Ji, Fuling; Pang, Zengchang; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Burt, S Alexandra; Klump, Kelly L; Medland, Sarah E; Montgomery, Grant W; Kandler, Christian; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Saudino, Kimberly J; Dubois, Lise; Boivin, Michel; Haworth, Claire M A; Plomin, Robert; Öncel, Sevgi Y; Aliev, Fazil; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Craig, Jeffrey M; Saffery, Richard; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Spector, Timothy; Mangino, Massimo; Lachance, Genevieve; Gatz, Margaret; Butler, David A; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Freitas, Duarte L; Maia, José Antonio; Harden, K Paige; Tucker-Drob, Elliot M; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Hong, Changhee; Chong, Youngsook; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth J F; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; He, Mingguang; Ding, Xiaohu; Chang, Billy; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Aujard, Kelly; Magnusson, Patrik K E; Pedersen, Nancy L; Aslan, Anna K Dahl; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Baker, Laura A; Tuvblad, Catherine; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Heikkilä, Kauko; Tan, Qihua; Zhang, Dongfeng; Swan, Gary E; Krasnow, Ruth; Jang, Kerry L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Lichtenstein, Paul; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Tynelius, Per; Duncan, Glen E; Buchwald, Dedra; Corley, Robin P; Huibregtse, Brooke M; Nelson, Tracy L; Whitfield, Keith E; Franz, Carol E; Kremen, William S; Lyons, Michael J; Ooki, Syuichi; Brandt, Ingunn; Nilsen, Thomas Sevenius; Inui, Fujio; Watanabe, Mikio; Bartels, Meike; van Beijsterveldt, Toos C E M; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; Rebato, Esther; Martin, Nicholas G; Iwatani, Yoshinori; Hayakawa, Kazuo; Rasmussen, Finn; Sung, Joohon; Harris, Jennifer R; Willemsen, Gonneke; Busjahn, Andreas; Goldberg, Jack H; Boomsma, Dorret I; Hur, Yoon-Mi; Sørensen, Thorkild I A; Kaprio, Jaakko

    2015-08-01

    For over 100 years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address this question have increased recently because of the establishment of many new twin cohorts and the increasing accumulation of data in established twin cohorts. We started a new research project to analyze systematically (1) the variation of heritability estimates of height, BMI and their trajectories over the life course between birth cohorts, ethnicities and countries, and (2) to study the effects of birth-related factors, education and smoking on these anthropometric traits and whether these effects vary between twin cohorts. We identified 67 twin projects, including both monozygotic (MZ) and dizygotic (DZ) twins, using various sources. We asked for individual level data on height and weight including repeated measurements, birth related traits, background variables, education and smoking. By the end of 2014, 48 projects participated. Together, we have 893,458 height and weight measures (52% females) from 434,723 twin individuals, including 201,192 complete twin pairs (40% monozygotic, 40% same-sex dizygotic and 20% opposite-sex dizygotic) representing 22 countries. This project demonstrates that large-scale international twin studies are feasible and can promote the use of existing data for novel research purposes.

  1. The CODAtwins project: the cohort description of COllaborative project of Development of Anthropometrical measures in Twins to study macro-environmental variation in genetic and environmental effects on anthropometric traits

    PubMed Central

    Silventoinen, Karri; Jelenkovic, Aline; Sund, Reijo; Honda, Chika; Aaltonen, Sari; Yokoyama, Yoshie; Tarnoki, Adam D; Tarnoki, David L; Ning, Feng; Ji, Fuling; Pang, Zengchang; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Burt, S Alexandra; Klump, Kelly L; Medland, Sarah E; Montgomery, Grant W; Kandler, Christian; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Saudino, Kimberly J; Dubois, Lise; Boivin, Michel; Haworth, Claire MA; Plomin, Robert; Öncel, Sevgi Y; Aliev, Fazil; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Craig, Jeffrey M; Saffery, Richard; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Spector, Timothy; Mangino, Massimo; Lachance, Genevieve; Gatz, Margaret; Butler, David A; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Freitas, Duarte L; Maia, José Antonio; Harden, K Paige; Tucker-Drob, Elliot M; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Hong, Changhee; Chong, Youngsook; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth JF; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; He, Mingguang; Ding, Xiaohu; Chang, Billy; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Aujard, Kelly; Magnusson, Patrik KE; Pedersen, Nancy L; Dahl-Aslan, Anna K; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Baker, Laura A; Tuvblad, Catherine; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Heikkilä, Kauko; Tan, Qihua; Zhang, Dongfeng; Swan, Gary E; Krasnow, Ruth; Jang, Kerry L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Lichtenstein, Paul; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Tynelius, Per; Duncan, Glen E; Buchwald, Dedra; Corley, Robin P; Huibregtse, Brooke M; Nelson, Tracy L; Whitfield, Keith E; Franz, Carol E; Kremen, William S; Lyons, Michael J; Ooki, Syuichi; Brandt, Ingunn; Nilsen, Thomas Sevenius; Inui, Fujio; Watanabe, Mikio; Bartels, Meike; van Beijsterveldt, Toos CEM; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; Rebato, Esther; Martin, Nicholas G; Iwatani, Yoshinori; Hayakawa, Kazuo; Rasmussen, Finn; Sung, Joohon; Harris, Jennifer R; Willemsen, Gonneke; Busjahn, Andreas; Goldberg, Jack H; Boomsma, Dorret I; Hur, Yoon-Mi; Sørensen, Thorkild IA; Kaprio, Jaakko

    2015-01-01

    For over one hundred years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address this question have increased recently because of the establishment of many new twin cohorts and the increasing accumulation of data in established twin cohorts. We started a new research project to analyze systematically 1) the variation of heritability estimates of height, BMI and their trajectories over the life course between birth cohorts, ethnicities and countries, and 2) to study the effects of birth related factors, education and smoking on these anthropometric traits and whether these effects vary between twin cohorts. We identified 67 twin projects including both monozygotic and dizygotic twins using various sources. We asked for individual level data on height and weight including repeated measurements, birth related traits, background variables, education and smoking. By the end of 2014, 48 projects participated. Together, we have 893,458 height and weight measures (52% females) from 434,723 twin individuals, including 201,192 complete twin pairs (40% monozygotic, 40% same-sex dizygotic and 20% opposite-sex dizygotic) representing 22 countries. This project demonstrates that large-scale international twin studies are feasible and can promote the use of existing data for novel research purposes. PMID:26014041

  2. Heredity of cognitive functions and personality in twins.

    PubMed

    Kalasūnienė, Loreta; Goštautas, Antanas; Sinkus, Algimantas

    2013-01-01

    The inheritance of cognitive functions and personality is still a problem under investigation. A classical method, investigation of twins, is often used to find relative contributions from genetics and the environment to quantitative traits. The aim of this study was to investigate a possible influence of heredity on cognitive functions (by applying the Raven test) and personality traits (according to the Eysenck's theory) in twins. In total, 139 pairs of same-sex twins were investigated. The zygosity of the twin pairs was confirmed through genotyping with 15 molecular DNA markers. Constructive thinking was assessed using the Raven test. Personality assessment was conducted using the Eysenck Personality Questionnaire (EPQ) in Lithuanian. The difference in the total number of incorrect solutions between monozygotic (MZ) and dizygotic (DZ) twin pairs younger than 15 years was not significant; however, in the group older than 15 years, this difference was found to be significant. Based on the total number of incorrect solutions, the concordance in the MZ twins was greater than in the DZ twins. The same tendency was found with cumulative EPQ scores on the extraversion scale. The results imply that the quality of cognitive functions and personality traits (extraversion) can be influenced by heredity. This confirms previous findings on the heritability of cognitive factors and personality traits.

  3. Genetic and experiential influences on behavior: Twins reunited at seventy-eight years

    PubMed Central

    Segal, Nancy L.; Cortez, Franchesca A.; Zettel-Watson, Laura; Cherry, Barbara J.; Mechanic, Mindy; Munson, Jaimee E.; Velázquez, Jaime M.A.; Reed, Brandon

    2015-01-01

    Twins living in different countries offer opportunities to explore associations between observed differences and experiential effects. This report compared the life histories, cognitive abilities, personality traits, psychomotor skills, medical characteristics, job satisfaction, social support and social relations of dizygotic (DZ) female twins reunited at 78, the world's longest separated set. The twins’ advanced age also enabled a study of how co-twin differences in aging may be associated with current behavioral and social differences. Consistent with previous studies, these dizygotic reared apart (DZA) twins showed discordance across some, but not all, traits. Their different rearing situations and life histories may explain current differences in their responses to meeting their twin. This case highlights the importance of both genetic and rearing factors on behavior, but does not allow firm conclusions regarding the extent to which these sources explain individual developmental differences. However, such data contribute to the growing number of cross-culturally separated twins, generating novel hypotheses that may be assessed using larger samples. PMID:26366029

  4. Isolated Single Umbilical Artery in Twin Pregnancies and its Adverse Pregnancy Outcomes - A Case Report and Review of Literature

    PubMed Central

    Raiz, Iqbal

    2015-01-01

    Single umbilical artery is the most common congenital abnormality of the umbilical cord and is seen in 4-11% of twin pregnancies. It is usually associated with intrauterine growth retardation, preterm labour, small-for-dates and other structural anomalies. There is no significant difference in the incidence between monochorionic and dichorionic twins. The left artery is usually absent more commonly than the right. The female co-twin was predominantly more affected than their male counterparts. Single umbilical artery is found twice more common in white women than in Afro-Asians and Americans. The hemodynamic disturbances occur early in the embryonic development, influence greatly in the development of single umbilical artery. Genetic and environmental factors also play a major role in the development of this anomaly. The pregnancies with single umbilical artery were classified as high risk group, because the overall perinatal mortality rate was estimated to be as high as 20%. There is a significant increase in the occurrence of single umbilical artery in pregnancies due to artificial reproductive technologies, as well as in spontaneous miscarriages. Prenatal ultrasonography is the principal diagnostic technique employed to identify single umbilical artery during 3rd trimester of pregnancy. The present case, reports the presence of a single umbilical artery in a monozygotic, monochorionic twin pregnancy, which is acardiac-acephalic fetus, small for dates, female sex, associated with other major structural anomalies, and was still born. Authors analyse its incidence, clinical presentations and pregnancy outcome and also review the pertinent literature. PMID:25737967

  5. Genetic regulation of human anti-malarial antibodies in twins.

    PubMed Central

    Sjöberg, K; Lepers, J P; Raharimalala, L; Larsson, A; Olerup, O; Marbiah, N T; Troye-Blomberg, M; Perlmann, P

    1992-01-01

    Immune responses to defined antigens may differ between individuals in a population as the reflection of differences in genetic regulation. In experimental animals, variation in responsiveness to a given epitope may be due to major histocompatibility complex (HLA, in humans) class II restrictions, implying serious limitations for the development of subunit vaccines. For human populations, knowledge of the relative importance of genetic as opposed to environmental factors affecting the immune response is scarce. We have compared antibody levels after immunization through repeated infections to a major malarial antigen (Pf155/RESA) in monozygotic twins with those in dizygotic twins, siblings, or unrelated controls. Antibody responses to the intact antigen and to some of its immunodominant epitopes were found to be more concordant within monozygotic twin pairs than in dizygotic pairs or age- and sex-matched siblings living under similar environmental conditions. The results support the conclusion that the antibody responses were genetically regulated. When the responses were assessed for possible associations with different HLA class II DRB, DQA, and DQB alleles had haplotypes, no associations were found. This suggests that the regulation of the Pf155/RESA antibody responses seen in this study reflects the impact of factors encoded by genes outside the HLA class II regions. PMID:1549568

  6. Associations Between Sibling Relationship Quality and Friendship Quality in Early Adolescence: Looking at the Case of Twins.

    PubMed

    Bekkhus, Mona; Brendgen, Mara; Czajkowski, Nikolai O; Vitaro, Frank; Dionne, Ginette; Boivin, Michel

    2016-04-01

    Bidirectional pathways between twin relationship quality and friendship quality were investigated in a large longitudinal twin cohort. We examined negative and positive relationship features in 313 monozygotic (MZ) twins and 238 same-sex dizygotic (DZ) twins from ages 13 to 14 years, using latent structural modeling. Results showed stronger stability of the twin relationship quality compared to friendship quality. Positive features in the sibling relationship were associated with increased positive features in the relationship with the best friend a year later. In contrast, no significant association between negative sibling relationship features and change in negative friendship quality features was found. These findings speak to the important role of the sibling relationship in the development of good quality friendship relations in twins.

  7. Mid-pregnancy, perinatal, and neonatal reproductive endocrinology: a prospective cohort study in twins and singleton control subjects.

    PubMed

    Kuijper, Esther A M; Twisk, Jos W R; Korsen, Ted; Caanen, Mirte R; Kushnir, Mark M; Rockwood, Alan L; Meikle, A Wayne; Hompes, Peter G; Wit, Jan M; Lambalk, Cornelis B

    2015-12-01

    To answer the questions: Are perinatal reproductive hormone profiles different in case of a twin compared with a singleton pregnancy? Are reproductive endocrine profiles of twin girls influenced by their male co-twin and vice versa? Prospective cohort study from January 2004 to October 2009. Not applicable. A total of 204 mothers of twins and 248 singleton control subjects, aged >18 years, pregnant with a twin or singleton and no endocrine disease or malignancy. Blood samples were collected at mid-gestation from the mother and at delivery from the mothers and the umbilical cords. Estrogens, androgens, sex hormone-binding globulin, progesterone, and gonadotropins were measured. Hormonal profiles were compared between singletons and twins, different types of twins, and opposite-sex and same-sex twins. Estrogen and progesterone concentrations were higher in mothers of twins compared with singletons, but twin babies had lower estrogen and progesterone concentrations at birth. Opposite-sex twin girls did not have higher androgens in cord blood compared with same-sex twin girls. Boys of an opposite-sex twin had lower luteinizing hormone concentrations compared with dizygotic twin boys with a brother as a co-twin. Children from a twin are not overexposed to sex steroids at the time of birth, despite higher concentrations in their mothers, and girls from opposite sex twins do not show androgenic influences from their male co-twin. The female co-twin may influence the hypothalamic-pituitary-testicular axis of her brother via central inhibition. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  8. [Twin delivery].

    PubMed

    Schaal, Jean-Patrick; Equy, Véronique; Thong-Vanh, Catherine; Pons, Jean-Claude; Hoffmann, Pascale

    2006-12-31

    The number of twin pregnancies is still increasing. This should not be assessed only as therapeutic success but also as complex obstetrical challenges. The main difficulties encountered are dystocic presentations, dystocic labours, and cord prolapses. Specific multiple pregnancy dystocias as chin-to-chin interlocking twins and conjoined twins are very rare. Twin delivery is substantially worse when compared with singleton delivery, with increased morbidity and mortality principally involving the second twin. Labour induction is possible, and should be indicated between the 38th and 39th weeks of gestation. Caesarean section should be done easily, especially in case of prematurity or in case of breech presentation for the first twin. Excepting these cases and the usual caesarean section indications, there is no demonstrated superiority of the caesarean section delivery compared to the vaginal delivery. When needed, internal version and/or breech extraction should be done with intact membranes. Active management of the third stage is necessary, due to uterine surdistension easily leading to uterine atonia.

  9. [The type of higher nervous activity in twins].

    PubMed

    Pervomaĭskiĭ, B Ia; Ialdygina, A S; Pervomaĭskiĭ, E B

    1975-01-01

    Exmination of twelve pairs of monozygote (MT) and dizygote (DT) twins and their control groups revealed an identity of the higher nervous activity type and a high positive intrapair and group correlation of typological parameters in MT (0.42); a predominantly different typological classification and a lower correlation in DT (0.33); a low correlation in the control group No. 1 and mere traces of general positive correlation in group No. 2 (0.07) and No. 3. The data point to the considerable genetic dependence of the higher nervous activity type; they also serve as a verification of the method used.

  10. Healthy co-twins of patients with affective disorders show reduced risk-related activation of the insula during a monetary gambling task

    PubMed Central

    Macoveanu, Julian; Miskowiak, Kamilla; Kessing, Lars Vedel; Vinberg, Maj; Siebner, Hartwig Roman

    2016-01-01

    Background Healthy first-degree relatives of patients with affective disorders are at increased risk for affective disorders and express discrete structural and functional abnormalities in the brain reward system. However, value-based decision making is not well understood in these at-risk individuals. Methods We investigated healthy monozygotic and dizygotic twins with or without a co-twin history of affective disorders (high-risk and low-risk groups, respectively) using functional MRI during a gambling task. We assessed group differences in activity related to gambling risk over the entire brain. Results We included 30 monozygotic and 37 dizygotic twins in our analysis. Neural activity in the anterior insula and ventral striatum increased linearly with the amount of gambling risk in the entire cohort. Individual neuroticism scores were positively correlated with the neural response in the ventral striatum to increasing gambling risk and negatively correlated with individual risk-taking behaviour. Compared with low-risk twins, the high-risk twins showed a bilateral reduction of risk-related activity in the middle insula extending into the temporal cortex with increasing gambling risk. Post hoc analyses revealed that this effect was strongest in dizygotic twins. Limitations The relatively old average age of the mono- and dizygotic twin cohort (49.2 yr) may indicate an increased resilience to affective disorders. The size of the monozygotic high-risk group was relatively small (n = 13). Conclusion The reduced processing of risk magnitude in the middle insula may indicate a deficient integration of exteroceptive information related to risk-related cues with interoceptive states in individuals at familial risk for affective disorders. Impaired risk processing might contribute to increased vulnerability to affective disorders. PMID:26395812

  11. Genetic influences on Chronic Obstructive Pulmonary Disease - a twin study.

    PubMed

    Ingebrigtsen, Truls; Thomsen, Simon F; Vestbo, Jørgen; van der Sluis, Sophie; Kyvik, Kirsten O; Silverman, Edwin K; Svartengren, Magnus; Backer, Vibeke

    2010-12-01

    Genes that contribute to the risk of developing Chronic Obstructive Pulmonary Disease (COPD) have been identified, but an attempt to accurately quantify the total genetic contribution to COPD has to our knowledge never been conducted. Hospital discharge diagnoses data on COPD were analysed in 22,422 Danish twin pairs, 20-71 years of age. The analyses were replicated in a population of 27,668 Swedish twin pairs, 45-108 years of age. A Cox-regression model was applied to the discordant time from the age at first hospital admission for COPD in the co-twin of an affected twin. Latent factor models were used to estimate genetic and environmental effects. The probandwise concordance rate for COPD was higher in monozygotic (MZ) than in dizygotic (DZ) twins, 0.19 vs. 0.07 (p = 0.08) in the Danish population, and 0.20 vs. 0.08 (p = 0.006) in the Swedish population. After adjusting for sex, smoking and age at first hospital admission the risk of developing COPD in the co-twin of an affected twin was higher in MZ than in DZ twins, with hazards ratio 4.3 (95% confidence interval 1.2-15.8, p = 0.03) in Danish twins and 3.4 (1.5-7.7, p = 0.004) in Swedish twins. According to the most parsimonious model, additive genetic factors explained 63% (46-77%) of the individual COPD-susceptibility in the Danish population and 61% (48-72%) in the Swedish population. The susceptibility to develop severe COPD, as defined by hospitalizations, is strongly influenced by genetic factors. Approximately 60% of the individual susceptibility can be explained by genetic factors. Copyright © 2010 Elsevier Ltd. All rights reserved.

  12. Opinions and practice patterns of obstetricians-gynecologists in the United States regarding amniocentesis in twins.

    PubMed

    Vink, Joy; Anderson, Britta; Fuchs, Karin; Schulkin, Jay; D'Alton, Mary E

    2013-09-01

    Accurate amniocentesis-related pregnancy loss (ARL) rates for twin gestations remains elusive because of varying ARL definitions in the literature. We examined how OB/GYNs define/counsel women carrying twins about ARL. A random sample of 1000 American College of OB/GYN (ACOG) fellows and ACOG Collaborative Ambulatory Research Network (CARN) members were mailed surveys about their opinions/practice patterns regarding amniocentesis in twins. There were 208/400 (52%) CARN members and 166/600 (27%) ACOG fellows who returned the survey (37% response rate). Of respondents, 80.8% practiced general OB/GYN, and 9.1% practiced maternal fetal medicine. Of respondents, 72% discussed amniocentesis for prenatal diagnosis. Of these, 91.7% discuss the risk of ARL; however, 47.4% do not quote an ARL rate. Of those who discuss ARL rates, 65% quote a rate greater than for singletons. Regarding monochorionic-diamniotic twins, 12.1% of respondents said the ARL rate was less, 39.6% said equal to, and 38.9% said greater than for dichorionic twins. Table 1 lists the most common clinical definitions/time intervals used to describe ARL. Various definitions/ARL rates are used when counseling about ARL in twins. Further studies using a widely accepted definition of ARL are necessary to improve the counseling of women considering amniocentesis for prenatal diagnosis in twins. © 2013 John Wiley & Sons, Ltd.

  13. Subacromial Space Width: Does Overuse or Genetics Play a Greater Role in Determining It? An MRI Study on Elderly Twins.

    PubMed

    Gumina, S; Arceri, V; Fagnani, C; Venditto, T; Catalano, C; Candela, V; Nisticò, L

    2015-10-21

    Age and peripheral microcirculation disorders are the main causes of rotator cuff degeneration. Acromion variants may affect subacromial space width, causing a pathological narrowing of the space that may compromise the cuff integrity. However, it is not clear if the subacromial space width is genetically determined or if it changes according to loading conditions. To clarify this unresolved question, we performed an MRI (magnetic resonance imaging) study with the aim of evaluating the acromiohumeral distance in a group of elderly monozygotic and dizygotic twins, and we analyzed the obtained data using the twin design to separate the contributions of shared and unique environments. We identified twenty-nine pairs of elderly twins. On MRI scans, we evaluated the acromiohumeral distance and health status of the rotator cuff tendons. Heritability, defined as the proportion of total variance of a specific characteristic in a particular population due to a genetic cause, was estimated as twice the difference between the intraclass correlation coefficients for monozygotic and dizygotic pairs. The influence of shared environment, due to environmental factors that contribute to twin and sibling similarity, was calculated as the difference between the monozygotic correlation coefficient and the heritability index. One-way ANOVA (analysis of variance) was used to estimate the differences among job categories, both in the total cohort and within zygosity groups. The intraclass correlation coefficient was substantially higher for monozygotic than for dizygotic twins, indicating a high degree of concordance of the acromiohumeral distance in pairs of individuals who shared 100% of their genes. The heritability index was 0.82, and shared and unique environmental contributions were both 0.09. There were no significant differences among subjects in different job categories, either in the total cohort (p = 0.685) or within the monozygotic (p = 0.719) and dizygotic groups (p = 0

  14. Twin's Birth-Order Differences in Height and Body Mass Index From Birth to Old Age: A Pooled Study of 26 Twin Cohorts Participating in the CODATwins Project.

    PubMed

    Yokoyama, Yoshie; Jelenkovic, Aline; Sund, Reijo; Sung, Joohon; Hopper, John L; Ooki, Syuichi; Heikkilä, Kauko; Aaltonen, Sari; Tarnoki, Adam D; Tarnoki, David L; Willemsen, Gonneke; Bartels, Meike; van Beijsterveldt, Toos C E M; Saudino, Kimberly J; Cutler, Tessa L; Nelson, Tracy L; Whitfield, Keith E; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; He, Mingguang; Ding, Xiaohu; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Jeong, Hoe-Uk; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Burt, S Alexandra; Klump, Kelly L; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Harris, Jennifer R; Brandt, Ingunn; Nilsen, Thomas Sevenius; Craig, Jeffrey M; Saffery, Richard; Ji, Fuling; Ning, Feng; Pang, Zengchang; Dubois, Lise; Boivin, Michel; Brendgen, Mara; Dionne, Ginette; Vitaro, Frank; Martin, Nicholas G; Medland, Sarah E; Montgomery, Grant W; Magnusson, Patrik K E; Pedersen, Nancy L; Aslan, Anna K Dahl; Tynelius, Per; Haworth, Claire M A; Plomin, Robert; Rebato, Esther; Rose, Richard J; Goldberg, Jack H; Rasmussen, Finn; Hur, Yoon-Mi; Sørensen, Thorkild I A; Boomsma, Dorret I; Kaprio, Jaakko; Silventoinen, Karri

    2016-04-01

    We analyzed birth order differences in means and variances of height and body mass index (BMI) in monozygotic (MZ) and dizygotic (DZ) twins from infancy to old age. The data were derived from the international CODATwins database. The total number of height and BMI measures from 0.5 to 79.5 years of age was 397,466. As expected, first-born twins had greater birth weight than second-born twins. With respect to height, first-born twins were slightly taller than second-born twins in childhood. After adjusting the results for birth weight, the birth order differences decreased and were no longer statistically significant. First-born twins had greater BMI than the second-born twins over childhood and adolescence. After adjusting the results for birth weight, birth order was still associated with BMI until 12 years of age. No interaction effect between birth order and zygosity was found. Only limited evidence was found that birth order influenced variances of height or BMI. The results were similar among boys and girls and also in MZ and DZ twins. Overall, the differences in height and BMI between first- and second-born twins were modest even in early childhood, while adjustment for birth weight reduced the birth order differences but did not remove them for BMI.

  15. Term twin birth - impact of mode of delivery on outcome.

    PubMed

    Ylilehto, Elina; Palomäki, Outi; Huhtala, Heini; Uotila, Jukka

    2017-05-01

    The main aims of this study were to compare maternal and neonatal outcomes in term twin birth according to the planned mode of delivery and to study the effects of chorionicity and inter-twin delivery time on neonatal outcome. A single-center cohort study of 495 women with twin deliveries at ≥37(+0) weeks of gestation. Term twin deliveries were divided into a trial of labor group (TOL, 69.3%) and a planned cesarean section (CS) group (30.7%). The primary outcomes were maternal and neonatal morbidity. 80.8% of women attempting TOL achieved vaginal birth. In the TOL group, mothers had less bleeding [median 500 mL (range 150-2700 mL) vs. 950 mL (range 150-3500 mL), p < 0.001) and fewer surgical complications (3.2% vs. 8.6%, p = 0.011), whereas second twins more often had five-minute Apgar scores of <7 (5.0% vs. 0%, p = 0.002) or umbilical artery pH < 7.05 (5.7% vs. 0%, p = 0.003), compared with the planned CS group. There was a slight, non-significant tendency for more NICU admissions in the TOL group, yet the need for NICU treatment was infrequent in the whole study material. Outcomes among dichorionic (DC) second twins were similar to those in the whole material, but among monochorionic (MC) second twins there were no differences between the TOL and planned CS groups. In secondary analysis, a five-minute Apgar score <7 occurred significantly more often in the DC group among second twins if the inter-twin delivery time exceeded 30 min. TOL is a good option for women with twin pregnancy at term, regardless of chorionicity. Active management of labor for the second twin is important, also in DC births. Maternal outcomes were more favorable with TOL and although low Apgar scores and low umbilical blood pH may be more frequent after TOL - especially with the second twin - serious neonatal morbidity is rare and does not differ from that after planned CS. © 2017 Nordic Federation of Societies of Obstetrics and Gynecology.

  16. Increased risk of congenital heart disease in twins in the North of England between 1998 and 2010

    PubMed Central

    Best, K E; Rankin, J

    2015-01-01

    Objective To examine the relative risk (RR) of congenital heart disease (CHD) in twins compared with singletons, according to chorionicity. Methods Twins and singletons with CHD notified to the Northern Congenital Abnormality Survey between 1998 and 2010 were included in this population-based study. Information on chorionicity was obtained from the Northern Survey of Twins and Multiple Pregnancy. Prevalence was calculated as the number of cases occurring in live births, late miscarriages (20–23 weeks), stillbirths (≥24 weeks) and terminations of pregnancy for fetal anomaly, per 10 000 total births. The risk of CHD in twins compared with singletons was estimated using Poisson regression. Results There were 399 414 singleton births of which 2984 (0.7%) had CHD. Among 11 871 twin births, 154 (1.3%) had CHD; one twin was affected by CHD in 2.5% of twin pregnancies. Of 8605 dichorionic (DC) births and 2317 monochorionic (MC) births, 96 (1.1%) and 47 (2.0%) were associated with CHD. Compared with singletons, twins were at significantly increased risk of CHD (RR=1.73, 95% CI 1.48 to 2.04; p<0.001). MC twins were at 82% significantly increased risk of CHD compared with DC twins (RR=1.82, 95% CI 1.29 to 2.57; p<0.001). The RR of severe and mild CHD was particularly high in MC twins compared with singletons (292% increased risk, RR=3.92, 95% CI 1.25 to 12.30, p=0.02 and 207% increased risk, RR=3.07, 95% CI 2.20 to 4.28; p<0.001). Conclusions Compared with singletons, twins were at increased risk of CHD, the risk being substantially higher among MC twins. This information is important for health professionals when counselling women with twin pregnancies. PMID:26412859

  17. [Abnormal twin pregnancy--early resorption of a single fetus in a twin pregnancy pregnancy].

    PubMed

    Petaković, S; Petaković, H V; Madzić, D

    1998-01-01

    Twin pregnancy presents a condition of development of two fetuses in the uterus and can be monozygotic (single ovum) and dizygotic (two ova). In case of fertilization and segmentation of one ovum monozygotic twins are produced, while in case of fertilization of two ova, which can originate from one or two Graff follicles, dizygotic twins are developed. The ratio of twin and single pregnancies is 1:89 (according to Hellin's law) (1). The incidence of twin and other multiple pregnancies is influenced by: race of parents, age and parity of mother, use of clomid and gonadotrophin to stimulate ovulation, discontinued use of contraceptive pills and certain seasons (exposure to sunlight) (1). Due to occurrence of numerous complications twin pregnancy and parturition are considered to be highly risky. This is supported by clinical data on more frequent spontaneous abortions--especially in monozygotic pregnancies, hypertension in pregnancy, hemorrhage of various etiologies, anemias, early rupture of amniotic membranes, hydramnios, premature deliveries, etc. Nowadays diagnosis of both twin and other multiple pregnancies in the early stage is required, in order to establish normal or pathological development of such pregnancies. As early as 6 gestation week in twin pregnancies it is possible to sonographically visualize two gestation sacs in the uterus, while in 7-8 gestation weeks it is possible to see two embryos with evidence of fetal heart rate. In early pregnancy a differentially-diagnosed uterus may be clinically enlarged due to: hydratidaform mole, uterine mioma or ovarian cyst. In later gestation confirmation of twin pregnancy is possible by clinical and sonographic examination and biochemical analyses (elevated values of HPL and -fetoprotein) and less frequently, by x-ray. Repeated sonographic examinations can reveal the following anomalies of twin pregnancies: one normal pregnancy with one sac containing no embryo, one sac containing no embryo and one sac with a

  18. The Host Genotype and Environment Affect Strain Types of Bifidobacterium longum subsp. longum Inhabiting the Intestinal Tracts of Twins.

    PubMed

    Zhang, Min; Hang, Xiaomin; Tan, Jing; Yang, Hong

    2015-07-01

    To investigate the influences of host genotype and environment on Bifidobacterium longum subsp. longum inhabiting human intestines at the strain level, six pairs of twins, divided into two groups (children and adults), were recruited. Each group consisted of two monozygotic (MZ) twin pairs and one dizygotic (DZ) twin pair. Child twins had been living together from birth, while adult twins had been living separately for 5 to 10 years. A total of 345 B. longum subsp. longum isolates obtained from 60 fecal samples from these twins were analyzed by multilocus sequence typing (MLST), and 35 sequence types (STs) were finally acquired. Comparison of strains within and between the twin pairs showed that no strains with identical STs were observed between unrelated individuals or within adult DZ twin pairs. Eight STs were found to be monophyletic, existing within MZ twins and child DZ twins. The similarity of strain types within child cotwins was significantly higher than that within adult cotwins, which indicated that environment was one of the important determinants in B. longum subsp. longum strain types inhabiting human intestines. However, although these differences between MZ and DZ twins were observed, it is still difficult to reach an exact conclusion about the impact of host genotype. This is mainly because of the limited number of subjects tested in the present study and the lack of strain types tracing in the same twin pairs from birth until adulthood. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

  19. Trends in occurrence of twin births in Japan.

    PubMed

    Kurosawa, Kenji; Masuno, Mitsuo; Kuroki, Yoshikazu

    2012-01-01

    The rise in the rate of multiple births since the 1980s is due to the effect of advanced maternal age and increased use of assisted reproductive technology (ART). To determine the trends of prevalence in twin births, we studied the data of a population-based birth defects monitoring system during 26 years in Kanagawa Prefecture, Japan. A total of 15,380 twins from 7,690 deliveries were ascertained from 990,978 births in the Kanagawa Birth Defects Monitoring Program (KAMP) during 1981-2008. From the start of KAMP in 1981, the incidence of twin births had been consistently increasing from 57.0 to 98.6 per 10,000 deliveries until 2003, but after this time, the incidence declined to 78.5 in 2007. While the rate of monozygotic twins has been stable (∼40 per 10,000 deliveries) after 1990, that of dizygotic twins increased from 25.3 to 57.3 per 10,000 deliveries until 2002, and recovered to 40.1 in 2007. These results showed the most recent tendency of twin births and indicated that the single embryo transfer method can provide protection and reduction of perinatal risk caused by multiple births.

  20. Genetic influences on pulmonary function: a large sample twin study.

    PubMed

    Ingebrigtsen, Truls S; Thomsen, Simon F; van der Sluis, Sophie; Miller, Martin; Christensen, Kaare; Sigsgaard, Torben; Backer, Vibeke

    2011-08-01

    Heritability of forced expiratory volume in one second (FEV(1)), forced vital capacity (FVC), and peak expiratory flow (PEF) has not been previously addressed in large twin studies. We evaluated the genetic contribution to individual differences observed in FEV(1), FVC, and PEF using data from the largest population-based twin study on spirometry. Specially trained lay interviewers with previous experience in spirometric measurements tested 4,314 Danish twins (individuals), 46-68 years of age, in their homes using a hand-held spirometer, and their flow-volume curves were evaluated. Modern variance component sex-limitation models were applied to evaluate possible genetic differences between the sexes for FEV(1), FVC, and PEF. Estimates were adjusted for age, height, and smoking. For FEV(1), additive genetic effects of 61% (95% CI 56-65) were observed. For FVC, the additive genetic contribution was 26% (3-49%) and the dominant genetic contribution was 29% (4-54%). For PEF, our models showed an additive genetic contribution of 43% (31-52%) for men, but genetic influences were not significant in women. We found no significant differences between dizygotic same-sex twins and dizygotic opposite-sex twins for FEV(1), FVC, and PEF, suggesting absence of qualitative genetic differences between the sexes. Sex-difference heritability for PEF suggested possible quantitative genetic differences between the sexes for this index. Genetic effects contributed significantly to individual differences observed in FEV(1), FVC, and PEF. Qualitative sex differences were absent for all spirometric measures, while quantitative sex differences were observed only for PEF, with heritability being substantial in men but negligible in women.

  1. A twin study of posttraumatic stress disorder symptoms and chronic widespread pain.

    PubMed

    Arguelles, Lester M; Afari, Niloofar; Buchwald, Dedra S; Clauw, Daniel J; Furner, Sylvia; Goldberg, Jack

    2006-09-01

    Previous studies of the association between posttraumatic stress disorder (PTSD) and chronic widespread pain (CWP) or fibromyalgia have not examined the role of familial or genetic factors. The goals of this study were to determine if symptoms of PTSD are related to CWP in a genetically informative community-based sample of twin pairs, and if so, to ascertain if the association is due to familial or genetic factors. Data were obtained from the University of Washington Twin Registry, which contains 1042 monozygotic and 828 dizygotic twin pairs. To assess the symptoms of PTSD, we used questions from the Impact of Events Scale (IES). IES scores were partitioned into terciles. CWP was defined as pain located in 3 body regions lasting at least 1 week during the past 3 months. Random-effects regression models, adjusted for demographic features and depression, examined the relationship between IES and CWP. IES scores were strongly associated with CWP (P<0.0001). Compared to those in the lowest IES tercile, twins in the highest tercile were 3.5 times more likely to report CWP. Although IES scores were associated with CWP more strongly among dizygotic than among monozygotic twins, this difference was not significant. Our findings suggest that PTSD symptoms, as measured by IES, are strongly linked to CWP, but this association is not explained by a common familial or genetic vulnerability to both conditions. Future research is needed to understand the temporal association of PTSD and CWP, as well as the physiological underpinnings of this relationship.

  2. The Genetics of Sexuality and Aggression (GSA) twin samples in Finland.

    PubMed

    Johansson, Ada; Jern, Patrick; Santtila, Pekka; von der Pahlen, Bettina; Eriksson, Elias; Westberg, Lars; Nyman, Henrik; Pensar, Johan; Corander, Jukka; Sandnabba, N Kenneth

    2013-02-01

    The Genetics of Sexuality and Aggression (GSA) project was launched at the Abo Akademi University in Turku, Finland in 2005 and has so far undertaken two major population-based data collections involving twins and siblings of twins. To date, it consists of about 14,000 individuals (including 1,147 informative monozygotic twin pairs, 1,042 informative same-sex dizygotic twin pairs, 741 informative opposite-sex dizygotic twin pairs). Participants have been recruited through the Central Population Registry of Finland and were 18-49 years of age at the time of the data collections. Saliva samples for DNA genotyping (n = 4,278) and testosterone analyses (n = 1,168) were collected in 2006. The primary focus of the data collections has been on sexuality (both sexual functioning and sexual behavior) and aggressive behavior. This paper provides an overview of the data collections as well as an outline of the phenotypes and biological data assembled within the project. A detailed overview of publications can be found at the project's Web site: http://www.cebg.fi/.

  3. Treatment responses to tooth whitening in twins.

    PubMed

    Corby, Patricia M A; Biesbrock, Aaron; Gerlach, Robert; Corby, Andrea L; Moreira, Alexandre; Schork, Nicholas J; Bretz, Walter A

    2014-02-01

    The aim of this study was to determine heritability estimates of treatment responses to a 10% hydrogen peroxide strip-based whitening system in twins. Eighty-five twin pairs were randomly assigned to 10% hydrogen peroxide whitening strips or placebo strips without peroxide. Both twins (monozygotic or dizygotic) received the same treatment. Maxillary teeth were treated for 30 minutes twice daily for 7 days. Efficacy was measured objectively as L* (light-dark), a* (red-green), and b* (yellow-blue) color change from digital images at baseline (∆) and day 8. Heritability estimates for tooth whitening treatment responses for changes from day 8 to baseline were obtained using variance-component methodologies. Whitening treatment responses were highly heritable (h(2) = 71.0) for ∆b* and ∆a*(p < .0001), but not for ∆L* (h(2) = 27.0), which was essentially modulated by environmental factors. This study has demonstrated that both genetic and environmental factors significantly contributed to seven-day whitening treatment responses achieved with 10% hydrogen peroxide strips.

  4. British motor neuron disease twin study.

    PubMed Central

    Graham, A J; Macdonald, A M; Hawkes, C H

    1997-01-01

    OBJECTIVES: To investigate the cause of sporadic motor neuron disease (MND) by twin study, so allowing (1) estimation of the genetic contribution, and (2) collection of matched pairs for a case-control study of possible environmental factors. METHODS: 10872 death certificates bearing the diagnosis MND were collected from 1979 to 1989 inclusive. Inspection of individual birth entries allowed identification of potential twins. The status of each co-twin was determined and contact made through the National Health Service Central Register (NHS-CR) and their general practitioner (GP). The diagnosis of MND was verified via the co-twin and relatives, and medical records where available. Zygosity was assessed using a recognised questionnaire. Details concerning environmental exposures and health were gathered by interview of cotwin and relatives using a semistructured questionnaire. Heritability (h2) of MND was estimated, and the environmental information was analysed by conditional logistic regression modelling. RESULTS: Seventy seven probands were identified, of whom 26 were monozygotic and 51 dizygotic. Four monozygotic probands were concordant, but two probands came from a family known to have familial MND. The estimated heritability was between 0.38 and 0.85. Most environmental risk factors were not significant. Regular vehicle maintenance (odds ratio (OR) = 7.0; 95% confidence interval (95% CI) 1.3-89.9) and occupational paint usage (OR = 3.75; 95% CI 1.0-17.1), however, occurred significantly more often in the affected cases. CONCLUSIONS: This "death discordant" method for twin collection has proved to be viable, and has allowed the ascertainment of a large population sample in a rare disease. The genetic role in sporadic MND is substantial, and higher than expected. Exposure to industrial chemicals, particularly constituents of petrochemicals and paints, may contribute to the aetiology of MND. PMID:9219739

  5. Evidence for No Significant Impact of Müllerian Anomalies on Reproductive Outcomes of Twin Pregnancy in Korean Women.

    PubMed

    Shim, Sohyun; Hur, Yoon-Mi; Kim, Da Hee; Seong, Seok Ju; Kim, Mi-La; Shin, Joong Sik

    2016-04-01

    The present article aimed to evaluate the impact of congenital Müllerian anomalies (MA) on twin pregnancy after 24 gestational weeks in Korean women. All records of twin pregnancies in a large maternity hospital in Korea between January 2005 and July 2013 were analyzed. Patients with monochorionic monoamniotic (MCMA) twins, non-Korean patients, patients with twins delivered prior to 24 gestational weeks, and patients with miscarriage of one fetus or intrauterine fetal death (IUFD) before 24 gestational weeks were excluded from data analysis. In total, 1,422 women with twin pregnancy were eligible for data analysis, including 17 (1.2%) who had a known congenital MA (septate uterus, bicornuate uterus, arcuate uterus, and unicornuate uterus). Except for the mode of conception, baseline demographics were similar between women with MA and those without MA. No significant differences were found in pregnancy outcomes of gestational age at delivery (p = .86), birth weight of smaller and larger twins (p = .54 and p = .65), and number of twins with birth weight <5th percentile for gestational age (p = .43).The rates of obstetrical complications such as pre-eclampsia, gestational diabetes mellitus (GDM), placenta previa, cerclage, IUFD, and postpartum hemorrhage were not significantly different between the two groups either. We concluded that the presence of congenital MA may not increase obstetrical risks in outcomes of pregnancy of twins delivered after 24 gestational weeks.

  6. Familial aggregation of Atrial Fibrillation – a study in Danish Twins

    PubMed Central

    Christophersen, Ingrid Elisabeth; Ravn, Lasse Steen; Budtz-Joergensen, Esben; Skytthe, Aksel; Haunsoe, Stig; Svendsen, Jesper Hastrup; Christensen, Kaare

    2009-01-01

    Background Heritability may play a role in non-familial atrial fibrillation (AF). We hypothesized that a monozygotic (MZ) twin whose co-twin was diagnosed with AF would have an increased risk of the disease compared to a dizygotic (DZ) twin in the same situation. Methods and Results A sample of 1137 same-sex twin pairs (356 MZ and 781 DZ pairs) where one or both members were diagnosed with AF were identified in The Danish Twin Registry. Concordance rates were twice as high for MZ pairs than for DZ pairs regardless of gender, 22.0% vs. 11.6% (p<0.0001). In a Cox regression of event free survival times, we compared the time span between occurrences of disease in MZ and DZ twins. The unaffected twin was included, when his or her twin-sibling (the index twin) was diagnosed with AF. After adjustment for age at entry, MZ twins had a significantly shorter event free survival time (hazard ratio: 2.0 (95% confidence interval (CI): 1.3 – 3.0)) thereby indicating a genetic component. Using biometric models, we estimated the heritability of AF to be 62 % (55 % – 68 %), due to additive genetics. There were no significant differences across genders. Conclusion All the analyses of twin similarities in the present study indicate that genetic factors play a substantial role in the risk of AF for both genders. The recurrence risk for co-twins (12–22%) is clinically relevant and suggests that co-twins of AF-affected twins belong to a high-risk group for AF. PMID:19808493

  7. Gender identity disorder in twins: a review of the case report literature.

    PubMed

    Heylens, Gunter; De Cuypere, Griet; Zucker, Kenneth J; Schelfaut, Cleo; Elaut, Els; Vanden Bossche, Heidi; De Baere, Elfride; T'Sjoen, Guy

    2012-03-01

    The etiology of gender identity disorder (GID) remains largely unknown. In recent literature, increased attention has been attributed to possible biological factors in addition to psychological variables. To review the current literature on case studies of twins concordant or discordant for GID. A systematic, comprehensive literature review. Of 23 monozygotic female and male twins, nine (39.1%) were concordant for GID; in contrast, none of the 21 same-sex dizygotic female and male twins were concordant for GID, a statistically significant difference (P=0.005). Of the seven opposite-sex twins, all were discordant for GID. These findings suggest a role for genetic factors in the development of GID. © 2011 International Society for Sexual Medicine.

  8. Parent ratings of EAS temperaments in twins, full siblings, half siblings, and step siblings.

    PubMed

    Saudino, K J; McGuire, S; Reiss, D; Hetherington, E M; Plomin, R

    1995-04-01

    A twin/family design was used to explore genetic contributions to personality; to evaluate whether twins and nontwins yield different genetic results; and to test for the presence of contrast effects, the tendency of a rater to contrast one sibling with the other, thereby magnifying existing behavioral differences. The sample consisted of 708 adolescent same-sex sibling pairs from 10 to 18 years of age. Pairs included identical (monozygotic; MZ) and fraternal (dizygotic; DZ) twins, and full siblings in nondivorced families; and full, half, and unrelated siblings in stepfamilies. Mothers and fathers rated the temperament of their children on the EAS Temperament Survey (A. H. Buss & R. Plomin, 1984). Model-fitting analyses revealed significant genetic influences on each of the four EAS dimensions; however, for some dimensions, heritability estimates were significantly greater for twins than for nontwins. Overall, the data were best described by a sibling interaction model, which indicated significant contrast effects.

  9. Monozygotic twinning after assisted reproductive technologies: a case report of asymmetric development and incidence during 19 years in an international group of in vitro fertilization clinics.

    PubMed

    Tocino, Antonia; Blasco, Víctor; Prados, Nicolás; Vargas, Manuel J; Requena, Antonio; Pellicer, Antonio; Fernández-Sánchez, Manuel

    2015-05-01

    To describe a case of monozygotic twinning with asymmetric development following a single fresh embryo transfer as part of an intracytoplasmic sperm injection (ICSI) treatment. Secondarily, to report the incidence of monozygotic twinning at the IVI (Instituto Valenciano de Infertilidad) clinics. Case report. Private fertility centers. A 33-year-old woman with a 2-year history of primary infertility. Controlled ovarian hyperstimulation and ICSI treatment with single-embryo transfer. Incidence of monozygotic twinning at the IVI clinics. We report a twin pregnancy after a single-embryo transfer. Twins were dichorionic and diamniotic. One fetus had a 6-day delay in its growth compared with the other when observed by ultrasound. Two female infants were delivered, and despite presenting congenital diseases, they were successfully treated and evolved correctly. A subsequent DNA analysis confirmed that the infants were monozygotic. Furthermore, we estimated a monozygotic twinning rate of 1.17% at the IVI clinics, taking into account those cases in which two or more embryos with heart beats were observed by ultrasound scanning after single-embryo transfers. Ultrasound scans performed during pregnancy suggested a possible dizygotic origin of the twins, but DNA analysis performed after birth established that they were monozygotic. Genetic analysis is the only valid tool to confirm if like-sex dichorionic twins are monozygotic or dizygotic. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  10. [Association between anxiety-depression and 5-HTTLPR gene polymorphism in school-aged twins].

    PubMed

    Zhao, Qiao; Li, Yu-Ling; Enherbayaer; Liu, Yan; Ding, Yi

    2016-01-01

    To investigate the association between anxiety-depression and 5-HTTLPR gene polymorphism in school-aged twins. A total of 147 pairs of twins (47 pairs of monozygotic twins, 100 pairs of dizygotic twins) aged 8-12 years from Baotou and Hohhot were selected as respondents. The Achenbach Child Behavior Checklist (CBCL) was used to calculate the scores of anxiety-depression factors in school-aged twins. The DNA was extracted from oral epithelial cells, and polymerase chain reaction was applied for 5-HTTLPR genotyping. The generalized estimating equation (GEE) was used to analyze the effect of 5-HTTLPR polymorphism and family environment on anxiety-depression in school-aged twins. The children with LS and SS genotypes had significantly higher scores of anxiety-depression factors than those with LL genotype (χ2=3.938, P<0.05). The interaction of 5-HTTLPR genotype with family cohesion and family rearing patterns had a significant impact on the scores of anxiety-depression factors in twins (χ2=6.129 and 7.665, both P<0.05). 5-HTTLPR genotype is significantly correlated with the scores of anxiety-depression factors in school-aged twins. In the family with high cohesion and an autocratic family rearing pattern, S allele may increase the possibility of anxiety-depression in twin children.

  11. Familial Risk and Heritability of Cancer Among Twins in Nordic Countries

    PubMed Central

    Mucci, Lorelei A.; Hjelmborg, Jacob B.; Harris, Jennifer R.; Czene, Kamila; Havelick, David J.; Scheike, Thomas; Graff, Rebecca E.; Holst, Klaus; Möller, Sören; Unger, Robert H.; McIntosh, Christina; Nuttall, Elizabeth; Brandt, Ingunn; Penney, Kathryn L.; Hartman, Mikael; Kraft, Peter; Parmigiani, Giovanni; Christensen, Kaare; Koskenvuo, Markku; Holm, Niels V.; Heikkilä, Kauko; Pukkala, Eero; Skytthe, Axel; Adami, Hans-Olov; Kaprio, Jaakko

    2017-01-01

    Importance Estimates of familial cancer risk from population-based studies are essential components of cancer risk prediction. Objective To estimate familial risk and heritability of cancer types in a large twin cohort. Design, Setting, and Participants Prospective study of 80 309 monozygotic and 123 382 same-sex dizygotic twin individuals (N = 203 691) within the population-based registers of Denmark, Finland, Norway, and Sweden. Twins were followed up a median of 32 years between 1943 and 2010. There were 50 990 individuals who died of any cause, and 3804 who emigrated and were lost to follow-up. Exposures Shared environmental and heritable risk factors among pairs of twins. Main Outcomes and Measures The main outcome was incident cancer. Time-to-event analyses were used to estimate familial risk (risk of cancer in an individual given a twin's development of cancer) and heritability (proportion of variance in cancer risk due to interindividual genetic differences) with follow-up via cancer registries. Statistical models adjusted for age and follow-up time, and accounted for censoring and competing risk of death. Results A total of 27 156 incident cancers were diagnosed in 23 980 individuals, translating to a cumulative incidence of 32%. Cancer was diagnosed in both twins among 1383 monozygotic (2766 individuals) and 1933 dizygotic (2866 individuals) pairs. Of these, 38% of monozygotic and 26% of dizygotic pairs were diagnosed with the same cancer type. There was an excess cancer risk in twins whose co-twin was diagnosed with cancer, with estimated cumulative risks that were an absolute 5% (95% CI, 4%-6%) higher in dizygotic (37%; 95% CI, 36%-38%) and an absolute 14% (95% CI, 12%-16%) higher in monozygotic twins (46%; 95% CI, 44%-48%) whose twin also developed cancer compared with the cumulative risk in the overall cohort (32%). For most cancer types, there were significant familial risks and the cumulative risks were higher in monozygotic than dizygotic twins

  12. Masculinity and femininity in twin children: genetic and environmental factors.

    PubMed

    Mitchell, J E; Baker, L A; Jacklin, C N

    1989-12-01

    Genetic and environmental origins of individual differences in masculine and feminine personality attributes were investigated in a sample of 38 monozygotic and 32 dizygotic twin pairs (total N = 140) during pre- and early adolescence. Self-report measures of both masculine and feminine characteristics were obtained for each child using 2 standardized instruments: the Children's Personality Attributes Questionnaire (CPAQ) and the Adolescent Self-Perception Inventory (ASPI). Multivariate biometrical analyses revealed significant genetic influences in all measures, accounting for 20%-48% of the observed variation in each. Environmental influences, which explained the remaining 52%-80% of variance in masculinity and femininity, were apparently specific to each individual and not shared by members of the same twin pair. The results underscore the importance of considering both genetic and environmental factors in gender-role development, particularly in studies of family resemblance.

  13. The Influence of Chorion Type on Health Measures at Birth and Dental Development in Australian and Dutch Twins: A Comparative Study.

    PubMed

    Mihailidis, Suzanna; Bockmann, Michelle; McConnell, Elise; Hughes, Toby; van Beijsterveldt, Toos C E M; Boomsma, Dorret I; McMaster, Minni; Townsend, Grant

    2015-08-01

    Chorion type may significantly influence the prenatal environment of twins. This study explored the associations between chorion type and gestational age, birth weight, birth length, and the timing of emergence of the first primary tooth in two populations of twins, Australian and Dutch. Additionally, we investigated the relationship between chorion type and birth weight discordance (BWD) in order to determine whether a significant relationship existed between discordance in birth weight and discordance in the timing of emergence of the first primary tooth. The two study samples consisted of 409 Australian twin pairs and 301 Dutch twin pairs, all of European ancestry. Data were collected through a combination of questionnaires and recording charts administered to the parents and through linkage with biological databases. In the Australian sample, monozygotic monochorionic (MZMC) twins experienced the shortest mean gestation time (35 weeks), the lowest mean birth length (46 cm) and the lowest mean birth weight (2.3 kg) compared with other twin groups. For the same variables in the Dutch sample, these trends with MZMC twinning were not observed. Chorion type did not significantly affect the mean timing of emergence of the first primary tooth in either sample. Monochorionicity was found to be significantly associated with BWD in both samples, but there was a significant association between BWD in MZMC twin pairs and timing of emergence of the first primary tooth only in the Australian sample. Results from this study support previous findings that the timing of emergence of the first primary tooth is influenced strongly by genetic factors and is well protected from environmental disturbances.

  14. Uterine artery Doppler evaluation in twin pregnancies at 11 + 0 to 13 + 6 weeks of gestation.

    PubMed

    Rizzo, G; Pietrolucci, M E; Aiello, E; Capponi, A; Arduini, D

    2014-11-01

    To compare uterine artery pulsatility index (PI) obtained at 11 + 0 to 13 + 6 weeks of gestation in singleton and twin pregnancies and to evaluate changes in PI values of twin pregnancies developing pre-eclampsia (PE) or small-for-gestational age (SGA) of either one or both fetuses. Uterine artery PI was measured in 421 twin pregnancies (384 dichorionic and 37 monochorionic) and in 500 singleton pregnancies. The measured mean and lowest uterine artery PI values were converted to multiples of the expected normal median (MoM) after correction for maternal body mass index, ethnicity and gestational age. The median PI-MoM values of twins were compared with those of singleton pregnancies. In twin pregnancies, PI-MoM values were analyzed according to chorionicity, development of early-onset (< 34 weeks) or late-onset (≥ 34 weeks) PE and SGA of one or both twins. Uterine artery PI-MoM was significantly lower in twin compared with singleton pregnancies (mean K = 174.31, P < 0.0001, lowest K = 139.27, P < 0.0001). However, there were no significant differences in the uterine artery PI-MoM values between monochorionic and dichorionic twins. The uterine artery PI in twin pregnancies that developed early-onset PE (P < 0.001) and SGA of both twins (P < 0.05) was higher than the uterine artery PI in uncomplicated twin pregnancies, whereas no differences were found for late PE or SGA of one twin. First-trimester placental impedance to flow, as assessed by uterine artery Doppler examination, is reduced in twin pregnancies, with no differences related to chorionicity. The relative increase of uterine artery PI found in twin pregnancies that developed early PE and SGA of both twins suggests that first-trimester uterine artery assessment may be useful in identifying such complications. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  15. Verbal recall and recognition in twins discordant for schizophrenia

    PubMed Central

    van Erp, Theo G.M.; Therman, Sebastian; Pirkola, Tiia; Tuulio-Henriksson, Annamari; Glahn, David C.; Bachman, Peter; Huttunen, Matti O.; Lönnqvist, Jouko; Hietanen, Marja; Kaprio, Jaakko; Koskenvuo, Markku; Cannon, Tyrone D.

    2008-01-01

    The nature, neural underpinnings, and etiology of deficits in verbal declarative memory in patients with schizophrenia remain unclear. To examine the contributions of genes and environment to verbal recall and recognition performance in this disorder, the California Verbal Learning Test was administered to a large population-based Finnish twin sample, which included schizophrenic and schizoaffective patients, their non-ill monozygotic (MZ) and dizygotic (DZ) co-twins, and healthy control twins. Compared with controls, patients and their co-twins showed relatively greater performance deficits on free recall compared with recognition. Intra-pair differences between patients and their non-ill co-twins in hippocampal volume and memory performance were highly positively correlated. These findings are consistent with the view that genetic influences are associated with reduced verbal recall in schizophrenia, but that non-genetic influences further compromise these abnormalities in patients who manifest the full-blown schizophrenia phenotype, with this additional degree of disease-related declarative memory deficit mediated in part by hippocampal pathology. PMID:18442861

  16. Cerebral asymmetry in twins: predictions of the right shift theory.

    PubMed

    Annett, Marian

    2003-01-01

    A study of the heritability of lobar brain volumes in twins has introduced a new approach to questions about the genetics of cerebral asymmetry. In addition to the classic comparison between monozygotic (MZ) and dizygotic (DZ) twins, a contrast was made between pairs of two right-handers (RR pairs) and pairs including one or more non-right-hander (non-RR pairs), in the light of the right shift (RS) theory of handedness. This paper explains the predictions of the RS model for pair concordance for genotype, cerebral asymmetry and handedness in healthy MZ and DZ twins. It shows how predictions for cerebral asymmetry vary between RR and non-RR pairs over a range of incidences of left-handedness. Although MZ twins are always concordant for genotype and DZ twins may be discordant, differences for handedness and cerebral asymmetry are expected to be small, consistent with the scarcity of significant effects in the literature. Marked differences between RR and non-RR pairs are predicted at all levels of incidence, the differences slightly larger in MZ than DZ pairs.

  17. Sex-typed play in opposite-sex twins.

    PubMed

    Henderson, B A; Berenbaum, S A

    1997-09-01

    To examine possible prenatal hormonal influences on sex-typed play, we compared girls with a boy co-twin to girls with a girl co-twin and girls with an older brother. In opposite-sex dizygotic twin pairs, the uterine environment may allow transfer of testosterone from the male to the female fetus. Singletons with an older brother provide a control for shared social environment. Girls aged 3 to 8 years (N = 91) were observed playing with sex-typed toys, and mothers completed questionnaires about the child's activities. Contrary to expectation, girls with a boy co-twin did not spend more time playing with boys' toys than girls with a girl co-twin or girls with an older brother. Although these results might suggest that normal variations in hormones do not contribute to within-sex variations in childhood activities, they combine with other work to suggest factors to consider in evaluating hormonal influences on human behavior, including level and timing of exposure.

  18. Genetic susceptibility to bilateral tinnitus in a Swedish twin cohort.

    PubMed

    Maas, Iris Lianne; Brüggemann, Petra; Requena, Teresa; Bulla, Jan; Edvall, Niklas K; Hjelmborg, Jacob V B; Szczepek, Agnieszka J; Canlon, Barbara; Mazurek, Birgit; Lopez-Escamez, Jose A; Cederroth, Christopher R

    2017-09-01

    Genetic contributions to tinnitus have been difficult to determine due to the heterogeneity of the condition and its broad etiology. Here, we evaluated the genetic and nongenetic influences on self-reported tinnitus from the Swedish Twin Registry (STR). Cross-sectional data from the STR was obtained. Casewise concordance rates (the risk of one twin being affected given that his/her twin partner has tinnitus) were compared for monozygotic (MZ) and dizygotic (DZ) twin pairs (N = 10,464 concordant and discordant twin pairs) and heritability coefficients (the proportion of the total variance attributable to genetic factors) were calculated using biometrical model fitting procedures. Stratification of tinnitus cases into subtypes according to laterality (unilateral versus bilateral) revealed that heritability of bilateral tinnitus was 0.56; however, it was 0.27 for unilateral tinnitus. Heritability was greater in men (0.68) than in women (0.41). However, when female pairs younger than 40 years of age were selected, heritability of 0.62 was achieved with negligible effects of shared environment. Unlike unilateral tinnitus, bilateral tinnitus is influenced by genetic factors and might constitute a genetic subtype. Overall, our study provides the initial evidence for a tinnitus phenotype with a genetic influence.Genet Med advance online publication 23 March 2017.

  19. Inheritance of finger pattern types in MZ and DZ twins.

    PubMed

    Karmakar, B; Malkin, I; Kobyliansky, E

    2011-08-01

    Digital patterns of a sample on twins were analyzed to estimate the resemblance between monozygotic (MZ) and dizygotic (DZ) twins and to evaluate the mode of inheritance by the use of maximum likelihood based variance decomposition analysis. MZ twin resemblance of finger pattern types appears to be more pronounced than in DZ twins, which suggests the presence of genetic factors in the forming of fingertip patterns. The most parsimonious model shows twin resemblance in count of all three basic finger patterns on 10 fingers. It has significant dominant genetic variance component across all fingers. In the general model, the dominant genetic variance component proportion is similar for all fingertips (about 60%) and the sibling environmental variance is significantly nonzero, but the proportion between additive and dominant variance components was different. Application of genetic model fitting technique of segregation analyses clearly shows mode of inheritance. A dominant genetic variance component or a specific genetic system modifies the phenotypic expression of the fingertip patterns. The present study provided evidence of strong genetic component in finger pattern types and seems more informative compared to the earlier traditional method of correlation analysis. Copyright © 2011. Published by Elsevier GmbH.

  20. Head injury and Parkinson's disease risk in twins.

    PubMed

    Goldman, Samuel M; Tanner, Caroline M; Oakes, David; Bhudhikanok, Grace S; Gupta, Anjali; Langston, J William

    2006-07-01

    Head injury is an inconsistently reported risk factor for Parkinson's disease (PD). Many related variables might confound this association, such as differences in childhood and adolescent lifestyles or genetically determined risk-taking behaviors. Twin studies circumvent some of these problems, because twins are genetically and environmentally much more similar than typical cases and control subjects. We conducted a case-control study in 93 twin pairs discordant for PD ascertained from the National Academy of Sciences/National Research Council World War II Veteran Twins Cohort. A prior head injury with amnesia or loss of consciousness was associated with an increased risk for PD (odds ratio, 3.8; 95% confidence interval, 1.3-11; p = 0.014). Truncating observations 10 years before PD onset enhanced the association. Though less precise, the association was somewhat stronger in monozygotic than in dizygotic pairs. Risk increased further with a subsequent head injury (p trend = 0.022) and with head injuries requiring hospitalization. Duration of unconsciousness was not associated. In a subanalysis of 18 pairs concordant for PD, the twin with younger onset PD was more likely to have sustained a head injury, although numbers were small. Our results suggest that mild-to-moderate closed head injury may increase PD risk decades later.

  1. Does Marriage Inhibit Antisocial Behavior? An Examination of Selection versus Causation via a Longitudinal Twin Design

    PubMed Central

    Burt, S. Alexandra; Donnellan, M. Brent; Humbad, Mikhila N.; Hicks, Brian M.; McGue, Matt; Iacono, William G.

    2010-01-01

    Context Prior studies have indicated that marriage is negatively associated with male antisocial behavior. Although often interpreted as a causal association, marriage is not a random event. As such, the association may stem from selection processes, whereby men less inclined towards antisocial behavior are more likely to marry. Objective To evaluate selection versus causation explanations of the association between marriage and desistence from antisocial behavior. Design Co-twin control analyses in a prospective twin study provided an analog of the idealized counterfactual model of causation. The co-twin control design uses the unmarried co-twin of a married twin to estimate what the married twin would have looked like had he remained unmarried. Discordant monozygotic (MZ) twins are particularly informative as they share a common genotype and rearing environment. Setting General community Participants 289 male-male twin pairs (65% MZ) from the Minnesota Twin Family Study assessed at ages 17, 20, 24, and 29 years. None of the participants were married at age 17, and 2.6% were married at age 20. By age 29, 58.8% of the participants were or had been married. Interventions None Main Outcome Measure A tally of Criterion C symptoms of DSM-III-R Antisocial Personality Disorder, as assessed via structured clinical interview. Results Mean differences in antisocial behavior across marital status were present even at ages 17 and 20, suggesting a selection process. However, the within-pair effect of marriage was significant for MZ twins, such that the married twin engaged in less antisocial behavior than his unmarried co-twin. Results were equivalent to those in dizygotic twins and persisted when controlling for prior antisocial behavior. Conclusions Results indicate an initial selection effect, whereby men with lower levels of antisocial behavior are more likely to marry. However, this tendency to refrain from antisocial behavior appears to be accentuated by the state of

  2. Early onset alcohol use and self-harm: a discordant twin analysis.

    PubMed

    Few, Lauren R; Werner, Kimberly B; Sartor, Carolyn E; Grant, Julia D; Trull, Timothy J; Nock, Matthew K; Bucholz, Kathleen K; Deitz, Sarah K; Glowinski, Anne L; Martin, Nicholas G; Nelson, Elliot C; Statham, Dixie J; Madden, Pamela A F; Heath, Andrew C; Lynskey, Michael T; Agrawal, Arpana

    2015-11-01

    Self-harm has considerable societal and economic costs and has been extensively studied in relation to alcohol involvement. Although early onset alcohol use (EAU) has been causally linked to maladaptive clinical outcomes, its association with self-harm is less well characterized. This study aimed to further examine the link between EAU and both nonsuicidal self-injury (NSSI) and suicide attempt (SA), and elucidate shared familial and causal/individual-specific pathways that explain this co-occurrence. Using data from 6,082 Australian same-sex twin pairs (1,732 monozygotic [MZ] and 1,309 dizygotic [DZ]), ages 23 to 40, we examined prevalence rates of NSSI and SA among twin pairs concordant and discordant for EAU. Conditional logistic regression, controlling for early clinical covariates and the influence of zygosity on EAU, was used to examine the odds ratio (OR) of self-harm within twin pairs discordant for EAU. Prevalence rates of both NSSI and SA were highest among twin pairs concordant for EAU and for twins who reported EAU within discordant twin pairs. Results from discordant twin analyses revealed nearly 4-fold increased odds of SA for the twin who endorsed EAU, and this OR was equal across MZ and DZ twins. EAU also was associated with elevated odds of NSSI (OR = 7.62), although this was only the case for DZ twins in discordant pairs. The equivalent increase in odds of SA for both MZ and DZ twins suggests that causal or individual-specific influences explain the link between EAU and SA. For NSSI, elevated odds for DZ twins and nonsignificant findings for MZ twins implicate correlated genetic factors in the association between EAU and NSSI. Future studies should test mechanisms through which EAU may causally influence SA, as well as examine whether genetic risk for third variables (e.g., negative urgency, stress reactivity) may explain the genetic overlap between EAU and NSSI. Copyright © 2015 by the Research Society on Alcoholism.

  3. The first large population based twin study of coeliac disease

    PubMed Central

    Greco, L; Romino, R; Coto, I; Di Cosmo, N; Percopo, S; Maglio, M; Paparo, F; Gasperi, V; Limongelli, M G; Cotichini, R; D'Agate, C; Tinto, N; Sacchetti, L; Tosi, R; Stazi, M A

    2002-01-01

    Background and aims: The genetic load in coeliac disease has hitherto been inferred from case series or anecdotally referred twin pairs. We have evaluated the genetic component in coeliac disease by estimating the concordance rate for the disease among twin pairs in a large population based study. Methods: The Italian Twin Registry was matched with the membership lists of a patient support group. Forty seven twin pairs were recruited and screened for antiendomysial (EMA) and antihuman-tissue transglutaminase (anti-tTG) antibodies; zygosity was verified by DNA fingerprinting and twins were typed for HLA class II DRB1 and DQB1 molecules. Results: Concordance rates for coeliac disease differ significantly between monozygotic (MZ) (0.86 probandwise and 0.75 pairwise) and dizygotic (DZ) (0.20 probandwise and 0.11 pairwise) twins. This is the highest concordance so far reported for a multifactorial disease. A logistic regression model, adjusted for age, sex, number of shared HLA haplotypes, and zygosity, showed that genotypes DQA1*0501/DQB1*0201 and DQA1*0301/DQB1*0302 (encoding for heterodimers DQ2 and DQ8, respectively) conferred to the non-index twin a risk of contracting the disease of 3.3 and 1.4, respectively. The risk of being concordant for coeliac disease estimated for the non-index twin of MZ pairs was 17 (95% confidence interval 2.1–134), independent of the DQ at risk genotype. Conclusion: This study provides substantial evidence for a very strong genetic component in coeliac disease, which is only partially due to the HLA region. PMID:11950806

  4. Heritability of intraocular pressure: a classical twin study.

    PubMed

    Carbonaro, F; Andrew, T; Mackey, D A; Spector, T D; Hammond, C J

    2008-08-01

    To estimate the heritability of intraocular pressure (IOP) by performing a classical twin study and to determine whether the use of different instruments influences calculation of eye IOP heritability. Twin pairs were recruited to participate from the TwinsUK Adult Twin Registry at St. Thomas' Hospital London. IOP was measured using Goldmann applanation tonometry (GAT). A subset of twins also had their IOP measured using the Ocular Response Analyser (ORA; Reichert, Buffalo, NY) and the Dynamic Contour Tonometer (DCT, Pascal; Swiss Microtechnology AG, Port, Switzerland). We compared the covariance of IOP within monozygotic (MZ) and dizygotic (DZ) pairs using genetic modelling techniques to determine the relative contribution of genes and environment to the variation in IOP seen in this population. Data for 422 twin pairs (211 MZ; 211 DZ) were analysed. The mean IOP for GAT was 15.4 (SD 2.7) mm Hg (range: 8.7-26.2 mm Hg). The MZ correlations were significantly higher than DZ for IOP measured by GAT, DCT and ORA (correlation coefficients: GAT: 0.57:0.39, DCT: 0.62:0.36, Goldmann-correlated ORA (IOPg) 0.73:0.47, for MZ:DZ twins, respectively). Modelling suggested heritability for GAT IOP of 0.62, with individual environmental factors accounting for 0.38 of the variation. This study demonstrated that genetic effects are important in determining IOP in this twin population. IOP readings differed depending upon the instrument used, and this resulted in different heritability values; genetic factors explained 62%, 63% and 74% of the variation in IOP using GAT, DCT and ORA IOPg, respectively. Environmental factors determined the remainder of the variation.

  5. The contribution of twins to the study of cognitive ageing and dementia: the Older Australian Twins Study.

    PubMed

    Sachdev, Perminder S; Lee, Teresa; Wen, Wei; Ames, David; Batouli, Amir H; Bowden, Jocelyn; Brodaty, Henry; Chong, Elizabeth; Crawford, John; Kang, Kristan; Mather, Karen; Lammel, Andrea; Slavin, Melissa J; Thalamuthu, Anbupalam; Trollor, Julian; Wright, Margie J

    2013-12-01

    The Older Australian Twins Study (OATS) is a major longitudinal study of twins, aged ≥ 65 years, to investigate genetic and environmental factors and their interactions in healthy brain ageing and neurocognitive disorders. The study collects psychiatric, neuropsychological, cardiovascular, metabolic, biochemical, neuroimaging, genomic and proteomic data, with two-yearly assessments, and is currently in its third wave. The initial cohort comprises 623 individuals (161 monozygotic and 124 dizygotic twin pairs; 1 MZ triplets; 27 single twins and 23 non-twin siblings), of whom 426 have had wave 2 assessment. A number of salient findings have emerged thus far which assist in the understanding of genetic contributions to cognitive functions such as processing speed, executive ability and episodic memory, and which support the brain reserve hypothesis. The heritability of brain structures, both cortical and subcortical, brain spectroscopic metabolites and markers of small vessel disease, such as lacunar infarction and white matter hyperintensities, have been examined and can inform future genetic investigations. Work on amyloid imaging and functional magnetic resonance imaging is proceeding and epigenetic studies are progressing. This internationally important study has the potential to inform research into cognitive ageing in the future, and offers an excellent resource for collaborative work.

  6. Anorexia and bulimia nervosa in same-sex and opposite-sex twins: lack of association with twin type in a nationwide study of Finnish twins.

    PubMed

    Raevuori, Anu; Kaprio, Jaakko; Hoek, Hans W; Sihvola, Elina; Rissanen, Aila; Keski-Rahkonen, Anna

    2008-12-01

    The authors tested the hypothesis that either prenatal feminization or masculinization hormone influences in utero or later socialization affects the risk for anorexia and bulimia nervosa and disordered eating in members of opposite-sex twin pairs. Finnish twins (N=2,426 women, N=1,962 men with known zygosity) from birth cohorts born 1974-1979 were assessed at age 22 to 28 years with a questionnaire for eating disorder symptoms. Based on the questionnaire screen, women (N=292), men (N=53), and their cotwins were interviewed to assess diagnoses of anorexia nervosa and bulimia nervosa (per DSM-IV and broad criteria). In women from opposite-sex twin pairs, the prevalence of DSM-IV or broad anorexia nervosa was not significantly different than that of women from monozygotic pairs or same-sex dizygotic pairs. Of the five male anorexia nervosa probands, only one was from an opposite-sex twin pair. Bulimia nervosa in men was too rare to be assessed by zygosity; the prevalence of DSM-IV or broad bulimia nervosa did not differ in women from opposite- versus same-sex twin pairs. In both sexes, the overall profile of indicators on eating disorders was rather similar between individuals from opposite- and same-sex pairs. The authors found little evidence that the risk for anorexia nervosa, bulimia nervosa, or disordered eating was associated with zygosity or sex composition of twin pairs, thus making it unlikely that in utero femininization or masculinization or socialization effects of growing up with an opposite-sex twin have a major influence on the later development of eating disorders.

  7. Genetic contribution to cartilage volume in women: a classical twin study.

    PubMed

    Hunter, David J; Snieder, Harold; March, Lyn; Sambrook, Philip N

    2003-12-01

    A classical twin study was performed to assess the relative contribution of genetic and environmental factors to cartilage volume. The subjects were 136 adult female twins: 31 monozygotic and 37 dizygotic twin pairs. The subjects had a T2-weighted fat-saturated sagittal gradient echo MRI performed of their right knee. Femoral, tibial and patella cartilage volumes were measured using 3D Slicer, a piece of software that facilitates semi-automatic segmentation, generation of three-dimensional surface models and quantitative analysis. The intraclass correlations were calculated, and maximum-likelihood model fitting was used to estimate genetic and environmental variance components. All variables were adjusted for age, BMI and femoral condyle size. The intraclass correlations for all of the cartilage volumes assessed were higher in monozygotic than dizygotic twin pairs. The heritabilities (95% confidence intervals) obtained from model fitting were: femoral, 61% (36-77%); tibial, 76% (56-87%); patella, 66% (47-79%); and total cartilage volume, 73% (51-85%). This study provides evidence for the importance of genetic factors in determining cartilage volume. Identifying heritability is the first step on the way to finding specific genes, which may improve our insight in the pathophysiology of cartilage disorders including the etiology of complex diseases such as osteoarthritis.

  8. Digital dermatoglyphic heritability differences as evidenced by a female twin study.

    PubMed

    Machado, João Felipe; Fernandes, Paula Roquetti; Roquetti, Ricardo Wagner; Filho, José Fernandes

    2010-10-01

    The genetic and environmental contributions to determine digital dermatoglyphic traits were investigated by using female dizygotic and monozygotic twin pairs to estimate heritability indexes (h(2)). The evaluated sample was composed by 20 monozygotic twin pairs and 13 dizygotic twin pairs. A significant heritability (h(2) = 0.65 to 0.96) was observed for 12 dermatoglyphic characteristics (delta indexes and ridge counts for right hand, left hand and both hands, and ridge counts for most individual fingers). A negative correlation between the ridge counts and heritability indexes from individual fingers was found for the left hand, which appears to be associated to a higher arch pattern frequency in most left-hand fingers, since this frequency was negatively correlated with ridge counts and positively correlated with heritability indexes. Heritability indexes of right-hand fingers were positively correlated with loop pattern frequency and negatively correlated with whorl pattern frequency. The low heritability of ridge counts from left thumb, ring and little fingers (h(2) = 0.11 to 0.32) indicates a higher chance that the chorion type had an influence in the intra-pair variance of monozygotic twins. Results confirmed the predominant genetic influence on the total ridge count. The heritability indexes varied in up to 8 times between different fingers and its association to ridge counts and pattern frequency was very variable between hands, evidencing that the use of dermatoglyphic traits from individual fingers as indicators of genetic influences to other human traits should consider this variability.

  9. Examining Associations Among ADHD, Homework Behavior, and Reading Comprehension: A Twin Study.

    PubMed

    Little, Callie W; Hart, Sara A; Schatschneider, Christopher; Taylor, Jeanette

    2016-07-01

    Previous literature has indicated an important association between reading comprehension and both attention-deficit/hyperactivity disorder (ADHD) and homework habits. This investigation sought to extend previous knowledge by providing information about how ADHD and homework behavior (i.e., completing homework regularly) may jointly influence reading comprehension. Using a genetically sensitive design, this study examined the genetic and environmental influences on and between ADHD, homework behavior and reading comprehension. Participants for this study included 691 twin pairs (351 monozygotic, 340 same-sex dizygotic) from the Florida Twin Project on Behavior and Environment (FTP-BE) and 2647 twin pairs (865 monozygotic, 1782 dizygotic) from the larger Florida Twin Project on Reading (FTP-R) in Grades 3 through 7. Three separate models, each representing a different definition of ADHD (full ADHD, inattention only, and hyperactivity/impulsivity only), showed similar patterns of results; therefore, results of the full ADHD model are discussed. Overlapping genetic influences were found between ADHD, homework behavior, and reading comprehension, but no shared environmental influences among all three. However, shared environmental influences overlapped between homework behavior and reading comprehension. Although the sources of this environmental overlap are unknown, these results have implications for improving homework practices and their subsequent influence on literacy skills through homework environments. © Hammill Institute on Disabilities 2014.

  10. Twin pregnancy complicated by esophageal atresia, duodenal atresia, gastric perforation, and hypoplastic left heart structures in one twin: a case report and review of the literature.

    PubMed

    Abou Chaar, Mohamad K; Meyers, Mariana L; Tucker, Bethany D; Galan, Henry L; Liechty, Kenneth W; Crombleholme, Timothy M; Marwan, Ahmed I

    2017-03-18

    The antenatal diagnosis of a combined esophageal atresia without tracheoesophageal fistula and duodenal atresia with or without gastric perforation is a rare occurrence. These diagnoses are difficult and can be suspected on ultrasound by nonspecific findings including a small stomach and polyhydramnios. Fetal magnetic resonance imaging adds significant anatomical detail and can aid in the diagnosis of these complicated cases. Upon an extensive literature review, there are no reports documenting these combined findings in a twin pregnancy. Therefore we believe this is the first case report of an antenatal diagnosis of combined pure esophageal and duodenal atresia in a twin gestation. We present a case of a 30-year-old G1P0 white woman at 22-week gestation with a monochorionic-diamniotic twin pregnancy discordant for esophageal atresia, duodenal atresia with gastric perforation, hypoplastic left heart structures, and significant early gestation maternal polyhydramnios. In this case, fetal magnetic resonance imaging was able to depict additional findings including area of gastric wall rupture, hiatal hernia, dilation of the distal esophagus, and area of duodenal obstruction and thus facilitated the proper diagnosis. After extensive counseling at our multidisciplinary team meeting, the parents elected to proceed with radiofrequency ablation of the anomalous twin to maximize the survival of the normal co-twin. The procedure was performed successfully with complete cessation of flow in the umbilical artery and complete cardiac standstill in the anomalous twin with no detrimental effects on the healthy co-twin. Prenatal diagnosis of complex anomalies in twin pregnancies constitutes a multitude of ethical, religious, and cultural factors that come into play in the management of these cases. Fetal magnetic resonance imaging provides detailed valuable information that can assist in management options including possible prenatal intervention. The combination of a cystic

  11. Understanding comorbidity: a twin study of reading disability and attention-deficit/hyperactivity disorder.

    PubMed

    Willcutt, Erik G; Pennington, Bruce F; Olson, Richard K; DeFries, John C

    2007-09-05

    A community sample of twins in which at least one member of each pair exhibited significant reading difficulties (99 monozygotic and 80 dizygotic pairs) or symptoms of attention-deficit/hyperactivity disorder (ADHD; 83 monozygotic and 78 dizygotic pairs) was used to test the etiology of comorbidity between reading disability (RD) and ADHD. Univariate analyses revealed moderate to high heritability for all measures of reading difficulty and ADHD. Subsequent bivariate analyses indicated that the relation between reading difficulties and inattention symptoms is primarily attributable to common genetic influences, whereas bivariate heritability estimates were not significant for hyperactivity-impulsivity and any of the reading measures. Reading difficulties and ADHD symptoms were more highly heritable if the proband met criteria for both disorders versus RD or ADHD alone, suggesting that future molecular genetic analyses of comorbid RD + ADHD may facilitate the identification of susceptibility genes for RD, ADHD, and their comorbidity. Copyright 2007 Wiley-Liss, Inc.

  12. Social and emotional processing as a behavioural endophenotype in eating disorders: a pilot investigation in twins.

    PubMed

    Kanakam, Natalie; Krug, Isabel; Raoult, Charlotte; Collier, David; Treasure, Janet

    2013-07-01

    Emotional processing difficulties are potential risk markers for eating disorders that are also present after recovery. The aim of this study was to examine these traits in twins with eating disorders. The Reading the Mind in the Eyes test, Emotional Stroop task and the Difficulties in Emotion Regulation Scale were administered to 112 twins with and without eating disorders (DSM IV-TR eating disorder criteria). Generalised estimating equations compared twins with eating disorders against unaffected co-twins and control twins, and within-pair correlations were calculated for clinical monozygotic (n = 50) and dizygotic twins (n = 20). Emotion recognition difficulties, attentional biases to social threat and difficulties in emotion regulation were greater in twins with eating disorders, and some were present in their unaffected twin siblings. Evidence for a possible genetic basis was highest for emotion recognition and attentional biases to social stimuli. Emotion recognition difficulties and sensitivity to social threat appear to be endophenotypes associated with eating disorders. However, the limited statistical power means that these findings are tentative and require further replication. Copyright © 2013 John Wiley & Sons, Ltd and Eating Disorders Association.

  13. Twin studies as a model for exploring the aetiology of autoimmune thyroid disease.

    PubMed

    Brix, Thomas Heiberg; Hegedüs, Laszlo

    2012-04-01

    Twins are an important resource for evaluating the relative contribution of genetic and environmental factors in determining a phenotype. During the last decades, a number of twin studies have investigated the aetiology of several phenotypes related to thyroid autoimmunity. Taken together, these studies have provided valid and unbiased information regarding the influence of genetic and environmental factors in the aetiology of autoimmune thyroid disease (AITD). The comparison of concordance rates between monozygotic (MZ) and dizygotic twins provides irrefutable evidence of a genetic component, and biometric twin modelling shows that approximately 75% of the total phenotypic variance in AITD is because of genetic effects. On the other hand, the lack of complete concordance in MZ twin pairs is proof of environmental and/or epigenetic factors also playing an important role. The impact of environmental triggers such as cigarette smoking, birth characteristics, infection with Yersinia enterocolitica, microchimerism and degree of X chromosome inactivation (XCI) has been evaluated by investigating AITD discordant twin pairs. These studies indicate that smoking, Y. enterocolitica infection and skewed XCI may be causally associated with clinically overt AITD, but not with the presence of thyroid autoantibodies in euthyroid subjects. Microchimerism, but not birth weight, might play a role in AITD. Twin studies offer several features that uniquely enhance our ability to localize genes and understand their function. Future twin studies should incorporate information on genetic, epigenetic and environmental variation thereby enhancing our ability to quantify the precise effect of specific risk factors.

  14. Monozygotic twins are discordant for chronic periodontitis: white blood cell counts and cytokine production after ex vivo stimulation.

    PubMed

    Torres de Heens, Gaudy L; Loos, Bruno G; van der Velden, Ubele

    2010-02-01

    The aim of this study was to investigate the extent of concordance in the number of leucocytes and their cytokine secretion after ex vivo stimulation in a twin population discordant for the amount of periodontal breakdown. Venous blood was collected from 18 adult twin pairs (10 monozygotic and eight dizygotic twins). Each twin pair consisted of a diseased twin (proband) and his/her co-twin. In venous blood, leucocytes were counted. The cytokines interleukin (IL)-1beta, IL-6, IL-8, IL-10 and IL-12p40 were assessed after stimulation of monocytic cells, while IL-13 and interferon (IFN)-gamma were determined after lymphocytic stimulation. In the study population as a whole, probands showed higher total numbers of leucocytes and lower IL-12p40 levels compared with their co-twins. In monozygotic twins, no difference was found in the leucocyte counts, but probands secreted more IL-6 than their co-twins; an opposite trend was found for IL-12p40. The results suggest that the observed discordance in periodontal breakdown in the studied monozygotic twin population may be related to the relatively high levels of IL-6 and the low levels of IL-12p40 secretion after ex vivo stimulation of whole-blood cell cultures. This cytokine secretion profile may be regarded as a risk indicator of periodontitis.

  15. Relative Genetic and Environmental Contributions to Variations in Human Retinal Electrical Responses Quantified in a Twin Study.

    PubMed

    Bhatti, Taha; Tariq, Ambreen; Shen, Ting; Williams, Katie M; Hammond, Christopher J; Mahroo, Omar A

    2017-08-01

    To estimate heritability of parameters of human retinal electrophysiology and to explore which parameters change with age. Prospective, classic twin study. Adult monozygotic and dizygotic twin pairs recruited from the TwinsUK cohort. Electroretinogram responses were recorded using conductive fiber electrodes in response to stimuli incorporating standards set by the International Society for the Clinical Electrophysiology of Vision. These parameters were extracted; in addition, photopic negative-response (PhNR; originating from retinal ganglion cells) and i-wave components were extracted from responses to the photopic single flash. Parameter values were averaged from both eyes. Mean values were calculated for the cohort. Correlation coefficients with age were calculated (averaging parameters from both twins from each pair). Coefficients of intrapair correlation were calculated for monozygotic and dizygotic twins. Age-adjusted heritability estimates were derived using standard maximum likelihood structural equation twin modeling. Responses were recorded from 210 participants in total (59 monozygotic and 46 dizygotic twin pairs). Ninety-three percent were women. Mean age for the cohort was 62.4 years (standard deviation, 11.4 years). In general, response amplitudes correlated negatively, and implicit times positively, with age. Correlations were statistically significant (P < 0.05) and moderate or strong (coefficient, >0.35) for the following parameters: scotopic standard and bright-flash a-wave implicit times, photopic 30-Hz flicker and single-flash b-wave implicit times, and PhNR and i-wave implicit times. Intrapair correlations were higher for monozygotic than dizygotic twins, suggesting important genetic influences. Age-adjusted estimates of heritability were significant for all parameters (except scotopic dim-flash b-wave implicit time), ranging from 0.34 to 0.85. Highest estimates were for photopic single-flash a-wave and b-wave amplitudes (0.84 and 0

  16. Genetic influence on bone mineral density in Korean twins and families: the healthy twin study.

    PubMed

    Park, J-H; Song, Y-M; Sung, J; Lee, K; Kim, Y S; Park, Y S

    2012-04-01

    Bone mineral density (BMD), a representative marker of osteoporosis risk, is found to be highly heritable in this Korean study, which is very consistent with the findings in Western populations. This finding strongly supports that genetic factors are significant determinants of osteoporosis risk along with individual biological and behavioral factors. Although genetic factors are known to contribute significantly to variations in BMD in Western populations, such an association has not been fully evaluated in an Asian population. This study was conducted to determine the role of genetic factors on BMD in Korean population. The study participants were 2,728 men and women consisting of 497 monozygotic (MZ) twin pairs, 119 dizygotic (DZ) twin pairs, and 1,496 first-degree relatives from the Healthy Twin Study. BMD was measured using dual-energy X-ray absorptiometry. Quantitative genetic analysis based on a variance decomposition model was performed. Age and the measured covariates accounted for 17~61% of the variation in BMD, depending on the sites of measurement. After accounting for the covariate effects, the heritability of BMD at the whole body, thoracic and lumbar spine, whole ribs, whole pelvis, whole arms, and whole legs were 0.76, 0.72, 0.73, 0.71, 0.51, and 0.75, respectively. The pair-wise correlation of BMD was the highest within MZ twin pairs, followed by DZ twin pairs, sibling pairs, and parents-child pairs. Cross-trait correlation analysis revealed a positive genetic correlation between BMDs at different sites, ranging from 0.80 (arm and leg BMD) to 0.50 (pelvis and arm BMD). The high heritability of BMD in this Korean population similar to those found in Western populations and the significant common genetic basis between BMDs at different sites strongly supports a significant role of genetic determinants on the risk of osteoporosis.

  17. Newborn infant characteristics and risk of future rheumatoid arthritis: a twin-control study.

    PubMed

    Svendsen, Anders J; Kyvik, Kirsten O; Houen, Gunnar; Nielsen, Christian; Holst, René; Skytthe, Axel; Junker, Peter

    2014-04-01

    Low birth weight has been proposed as a risk factor for rheumatoid arthritis (RA). The twin-control study design provides an opportunity to investigate the significance of potential prenatal determinants for adult morbidity by accounting for maternal characteristics and early environmental and genetic factors. We investigated the association between birth weight and RA in a sample of 42 twin pairs discordant for rheumatoid arthritis in which valid information on birth weight, birth length, and order was available from midwife records. Difference plot and conditional logistic regression were used to investigate the relationship between RA and birth weight or birth order adjusting for birth length and sex. The intra-pairwise birth weight differences, i.e., RA twin minus co-twin, ranged from -750 to 1,100 g, mean 78 g (95 % CI -13 to 70), 146 g (95 % CI (-36 to 329) in monozygotic, 32 g (95 % CI -90 to 154) in dizygotic, same sex and 69 g (95 % CI -122 to 260) in dizygotic, opposite sex twin pairs. The odds ratio for birth weight as risk factor for RA was 1.00 (95 % CI 0.997-1.003) when adjusting for birth length, birth order, and sex, irrespective of ACPA status. The odds ratio for developing RA as first born twin was 2.33 (95 % CI 0.97-5.60) when adjusting for birth length, birth weight, and sex, irrespective of ACPA status. In this twin-control study, birth weight was not associated with the development of RA in adult life. Being born first may predispose to RA.

  18. Ultrasound-guided umbilical cord occlusion using bipolar diathermy for Stage III/IV twin-twin transfusion syndrome.

    PubMed

    Taylor, M J O; Shalev, E; Tanawattanacharoen, S; Jolly, M; Kumar, S; Weiner, E; Cox, P M; Fisk, N M

    2002-01-01

    To evaluate bipolar diathermy as a technique for selective fetocide in the treatment of advanced (Stage III/IV) twin-twin transfusion syndrome (TTTS). A prospective observational study in two tertiary referral fetal medicine centres: Queen Charlotte's Hospital, London, UK and Haemek Hospital, Afula, Israel. Fifteen cases of TTTS (14 twins and one triplet pregnancy) were treated by selective occlusion of either the donor (n=8) or recipient's (n=7) umbilical cord using ultrasound-guided bipolar diathermy. Following each procedure, patients were scanned serially for fetal growth, liquor volume and umbilical Doppler measurements. Procedural complications and obstetric outcome were recorded. Postnatal placental injection studies were performed. Overall co-twin survival in Stage III/IV TTTS was 13/14 (93%). There were no treatment failures. The incidence of preterm prelabour rupture of membranes (PPROM) within 3 weeks of the procedure was 3/15 (20%). In those cases where pre-procedure umbilical artery Dopplers were abnormal, the Doppler findings normalised post-procedure in all non-cord-occluded fetuses. Growth velocities of surviving donors were similar to those of surviving recipients. Bipolar diathermy appears an effective technique for the selective reduction of monochorionic twins complicated by severe as well as preterminal TTTS, with recipient and donor fetuses being equally appropriate choices for fetocide. We suggest that for advanced-stage disease where the parents can contemplate this option, cord occlusion as a single preemptive procedure maximises the opportunity for intact survival of a single survivor. Copyright 2002 John Wiley & Sons, Ltd.

  19. Genetics and the environment affect the relationship between depression and low back pain: a co-twin control study of Spanish twins.

    PubMed

    Pinheiro, Marina B; Ferreira, Manuela L; Refshauge, Kathryn; Colodro-Conde, Lucía; Carrillo, Eduvigis; Hopper, John L; Ordoñana, Juan R; Ferreira, Paulo H

    2015-03-01

    Although the co-occurrence of low back pain (LBP) and depression is common, the nature of this association remains unclear. We aimed to investigate whether symptoms of depression are associated with LBP after adjusting for various confounders, including genetics. We used cross-sectional data from 2148 twins from the Murcia Twin Registry, Spain. All twins answered questions about lifetime prevalence of LBP (outcome variable) and symptoms of depression, collected through two instruments, deriving 3 measures: (1) self-report feelings of depression and anxiety; (2) state depression, and (3) trait depression. First, associations were investigated using logistic regression analysis of the total sample. We performed subsequent matched within-pair twin case-control analyses with all complete twin pairs discordant for LBP regardless of zygosity, and separately for dizygotic and monozygotic pairs. This sequential analysis allows for more precise estimates of the relationship between variables, as in each step, the impact of early shared environment and genetics is further considered. Symptoms of depression and anxiety were associated with higher prevalence of LBP in the total sample analysis (odds ratio [OR], 1.64; 95% confidence interval [CI], 1.31-2.05), and this relationship was stronger in the subsequent case-control analysis (OR, 1.74; 95% CI, 1.13-2.69) and dizygotic case-control analysis (OR, 2.39; 95% CI, 1.39-4.08) but disappeared when the analysis was conducted for monozygotic twins (OR, 0.92; 95% CI, 0.42-2.05). A similar pattern was found for state and trait depression. The depression-LBP relationship disappears when high levels of control for confounding factors are applied and seems to be driven by genetic or environmental factors that influence both conditions.

  20. Zygosity differences in height and body mass index of twins from infancy to old age: A study of the CODATwins project

    PubMed Central

    Jelenkovic, Aline; Yokoyama, Yoshie; Sund, Reijo; Honda, Chika; Bogl, Leonie H; Aaltonen, Sari; Ji, Fuling; Ning, Feng; Pang, Zengchang; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Burt, S Alexandra; Klump, Kelly L; Medland, Sarah E; Montgomery, Grant W; Kandler, Christian; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Saudino, Kimberly J; Dubois, Lise; Boivin, Michel; Tarnoki, Adam D; Tarnoki, David L; Haworth, Claire MA; Plomin, Robert; Öncel, Sevgi Y; Aliev, Fazil; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Craig, Jeffrey M; Saffery, Richard; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Rijsdijk, Fruhling; Spector, Timothy; Mangino, Massimo; Lachance, Genevieve; Gatz, Margaret; Butler, David A; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Freitas, Duarte L; Maia, José Antonio; Harden, K Paige; Tucker-Drob, Elliot M; Kim, Bia; Chong, Youngsook; Hong, Changhee; Shin, Hyun Jung; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth JF; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; He, Mingguang; Ding, Xiaohu; Chang, Billy; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Aujard, Kelly; Magnusson, Patrik KE; Pedersen, Nancy L; Aslan, Anna K Dahl; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Baker, Laura A; Tuvblad, Catherine; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Heikkilä, Kauko; Tan, Qihua; Zhang, Dongfeng; Swan, Gary E; Krasnow, Ruth; Jang, Kerry L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Lichtenstein, Paul; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Tynelius, Per; Duncan, Glen E; Buchwald, Dedra; Corley, Robin P; Huibregtse, Brooke M; Nelson, Tracy L; Whitfield, Keith E; Franz, Carol E; Kremen, William S; Lyons, Michael J; Ooki, Syuichi; Brandt, Ingunn; Nilsen, Thomas Sevenius; Inui, Fujio; Watanabe, Mikio; Bartels, Meike; van Beijsterveldt, Toos CEM; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; Rebato, Esther; Martin, Nicholas G; Iwatani, Yoshinori; Hayakawa, Kazuo; Sung, Joohon; Harris, Jennifer R; Willemsen, Gonneke; Busjahn, Andreas; Goldberg, Jack H; Rasmussen, Finn; Hur, Yoon-Mi; Boomsma, Dorret I; Sørensen, Thorkild IA; Kaprio, Jaakko; Silventoinen, Karri

    2015-01-01

    A trend towards greater body size in dizygotic (DZ) than in monozygotic (MZ) twins has been suggested by some but not all studies, and this difference may also vary by age. We analyzed zygosity differences in means and variances of height and body mass index (BMI) among male and female twins from infancy to old age. Data were derived from an international database of 54 twin cohorts participating in the CODATwins project and included 842,951 height and BMI measurements from age 1 to 102 years. The results showed that DZ twins were consistently taller than MZ twins, with differences of up to 2.0 cm in childhood and adolescence and up to 0.9 cm in adulthood. Likewise, a greater mean BMI of up to 0.3 kg/m2 in childhood and adolescence and up to 0.2 kg/m2 in adulthood was observed in DZ twins, although the pattern was less consistent. DZ twins presented up to 1.7% greater height and 1.9% greater BMI than MZ twins; these percentage differences were largest in middle and late childhood and decreased with age in both sexes. The variance of height was similar in MZ and DZ twins at most ages. In contrast the variance of BMI was significantly higher in DZ than in MZ twins particularly in childhood. In conclusion, DZ twins were generally taller and had greater BMI than MZ twins, but the differences decreased with age in both sexes. PMID:26337138

  1. N-Terminal pro-brain natriuretic peptide levels in dichorionic diamniotic twins with selective intrauterine growth restriction.

    PubMed

    Fujioka, Kazumichi; Mizobuchi, Masami; Sakai, Hitomi; Iwatani, Sota; Wada, Keiko; Yoshimoto, Seiji; Nakao, Hideto

    2014-03-04

    Monochorionic diamniotic (MD) twins with selective intrauterine growth restriction (sIUGR) have known associations with cardiac complications. However, the cardiac load of dichorionic diamniotic (DD) twins with sIUGR (DD-sIUGR) remains unclear. N-terminal pro-brain natriuretic peptide (NT-pro BNP) is a convenient marker of cardiac dysfunction in neonates, and is elevated in MD twins with sIUGR (MD-sIUGR). However, there are no reports assessing serum NT-pro BNP levels in DD-sIUGR. Here, we aimed to clarify serum NT-pro BNP levels at birth in DD-sIUGR, and to compare them with those of MD-sIUGR. Forty-one DD twin pairs admitted to our center between October 2007 and January 2013 were enrolled in this study and separated into two groups: nine twins with sIUGR (DD-sIUGR group) and 32 twins without sIUGR (DD without sIUGR group). Sixteen MD twins with sIUGR (MD-sIUGR group) served as positive controls. Serum NT-pro BNP levels at birth in DD-sIUGR [median 2,115 pg/ml (range, 443-6,590 pg/ml)] were significantly higher than in DD without sIUGR [1,080 pg/ml (range, 313-3,470 pg/ml); p=0.001], and significantly lower than in MD twins with sIUGR [4,520 pg/ml (range, 529-62,400 pg/ml); p=0.04]. Serum NT-pro BNP levels between larger and smaller DD co-twins were significantly correlated (r = 0.582; p<0.0001). In conclusion, serum NT-pro BNP levels at birth in DD twins with sIUGR were higher than those without, and lower than in MD twins with sIUGR.

  2. Twinning of dodecanedicarboxylic acid

    NASA Technical Reports Server (NTRS)

    Sen, R.; Wilcox, W. R.

    1986-01-01

    Twinning of 1,10-dodecanedicarboxyl acid (DDA) was observed in 0.1 mm thick films with a polarizing microscope. Twins originated from polycrystalline regions which tended to nucleate on twin faces, and terminated by intersection gone another. Twinning increased dramatically with addition of organic compounds with a similar molecular size and shape. Increasing the freezing rate, increasing the temperature gradient, and addition of silica particles increased twinning. It is proposed that twins nucleate with polycrystals and sometimes anneal out before they become observable. The impurities may enhance twinning either by lowering the twin energy or by adsorbing on growing faces.

  3. Heritability of Hepatic Fibrosis and Steatosis Based on a Prospective Twin Study

    PubMed Central

    Loomba, Rohit; Schork, Nicholas; Chen, Chi-Hua; Bettencourt, Ricki; Bhatt, Ana; Ang, Brandon; Nguyen, Phirum; Hernandez, Carolyn; Richards, Lisa; Salotti, Joanie; Lin, Steven; Seki, Ekihiro; Nelson, Karen E; Sirlin, Claude B; Brenner, David

    2015-01-01

    Background & Aims Little is known about the heritability of hepatic fibrosis, and the heritability of hepatic steatosis has not been systematically assessed in adults. We investigated the heritability of hepatic fibrosis and steatosis in a community-dwelling twin cohort. Methods We performed a cross-sectional analysis of a cohort of well-characterized twins residing in Southern California including 60 pairs of twins (42 monozygotic and 18 dizygotic; average age, 45.7±22.1 years; average body mass index, 26.4±5.7 kg/m2). We collected data on medical history, physical examinations, fasting laboratory test results, and liver health; all participants underwent an advanced magnetic resonance imaging (MRI) examination of the liver from January 2012 through January 2015. Hepatic steatosis was quantified non-invasively by MRI and determined based on the proton-density fat fraction (MRI-PDFF); liver fibrosis was measured based on stiffness measured by magnetic resonance elastography. Results Twenty-six of the 120 subjects (21.7%) had non-alcoholic fatty liver disease (defined as MRI-PDFF ≥ 5% after exclusion of other causes of hepatic steatosis). The presence of hepatic steatosis correlated between monozygotic twins (r2=0.70, P<.0001) but not between di-zygotic twins (r2=0.36, P=0.2). The level of liver fibrosis also correlated between monozygotic twins (r2=0.48, P<.002) but not between dizygotic twins (r2=.12, P=.7). In multivariable models adjusted for age, sex, and ethnicity, the heritability of hepatic steatosis (based on MRI-PDFF) was 0.52 (95% confidence interval, 0.31–0.73; P<1.1x10−11) and the heritability of hepatic fibrosis (based on liver stiffness) was 0.5 (95% confidence interval, 0.28–0.72; P<6.1 x 10−11). Conclusions A study of twins provides evidence that hepatic steatosis and hepatic fibrosis are heritable traits. PMID:26299412

  4. Perinatal characteristics and risk of polio among Swedish twins.

    PubMed

    Perng, Wei; Cnattingius, Sven; Iliadou, Anastasia; Villamor, Eduardo

    2012-05-01

    Prenatal exposure to adverse environmental conditions is related to increased adult mortality in regions where infections are highly prevalent, yet there is little evidence of the impact of perinatal conditions on the risk of severe infections throughout life. Using prospectively collected data from 21 604 like-sexed Swedish twins of known zygosity born in 1926-1958, we examined the risk of polio in relation to perinatal characteristics using cohort and nested co-twin case-control analyses. Polio incidence was determined through an interview in 1998, and linkage with the Swedish national inpatient and death registries. There were 133 cases of polio. In the cohort analysis, birth length, birthweight and head circumference were positively associated with polio risk. After adjustment for sex, birth year, gestational age at birth and within-twin pair correlations, twins of shortest length (<44 cm) had a 67% ([95% CI: 6%, 88%]; P=0.04) lower risk of polio compared with the reference group (47-49 cm). After additional adjustment for birth length, every 100-g increase in birthweight was related to a 34% increased risk of polio ([95% CI: -1%, 82%]; P=0.06), and every 10-mm increase in head circumference was related to a 17% greater risk of polio ([95% CI: 5%, 31%]; P=0.004). In co-twin control analyses among 226 disease-discordant twins, birth length, birthweight and head circumference were 0.3 cm (P=0.19), 84 g (P=0.07) and 3 mm (P=0.08) higher in cases than controls, respectively. Similar associations were observed among monozygotic (n=84) and dizygotic (n=142) twins. These findings suggest that early intrauterine growth restriction may be inversely related to the incidence of polio.

  5. Sleep Duration, Mortality, and Heredity-A Prospective Twin Study.

    PubMed

    Åkerstedt, Torbjörn; Narusyte, Jurgita; Alexanderson, Kristina; Svedberg, Pia

    2017-07-29

    A number of studies have shown a U-shaped association between sleep duration and mortality. Since sleep duration is partly genetically determined, it seems likely that its association with mortality is also genetically influenced. The purpose of the present study was to investigate the influence on heredity on the association between sleep duration and mortality. We used a cohort of 14267 twins from the Swedish Twin Registry. A Cox proportional hazards regression analysis, adjusted for a number of covariates, confirmed a clear U shape with a hazard ratio (HR) = 1.34 and 95% confidence interval (CI) = 1.15-1.57 for a sleep duration of ≤6.5 hours and HR = 1.18 (CI = 1.07-1.30) for sleep of ≥9.5 hours. Reference value was 7.0 hours. A co-twin analysis of 1942 twins discordant on mortality showed a HR = 2.66 (CI = 1.17-6.04) for long (≥9.5 hours) sleep in monzygotic twins and an HR = 0.66 (CI = 0.20-2.14) for short (<6.5 hours) sleep. In dizygotic twins, no association was significant. The heritability for mortality was 28% for the whole group, while it was 86% for short sleepers and 42% for long sleepers. Thus, the link with mortality for long sleep appears to be more due to environmental factors than to heredity, while heritability dominates among short sleepers. We found that both long and short sleep were associated with higher total mortality, that the difference in mortality within twin pairs is associated with long sleep, and that short sleep has a higher heritability for mortality, while long sleep is associated with more environmental influences on mortality.

  6. Twin Peaks

    NASA Technical Reports Server (NTRS)

    1997-01-01

    The two hills in the distance, approximately one to two kilometers away, have been dubbed the 'Twin Peaks' and are of great interest to Pathfinder scientists as objects of future study. The white areas on the left hill, called the 'Ski Run' by scientists, may have been formed by hydrologic processes.

    The image was taken by the Imager for Mars Pathfinder (IMP) after its deployment on Sol 3. Mars Pathfinder was developed and managed by the Jet Propulsion Laboratory (JPL) for the National Aeronautics and Space Administration. The IMP was developed by the University of Arizona Lunar and Planetary Laboratory under contract to JPL. Peter Smith is the Principal Investigator.

  7. Twin-to-twin transfusion syndrome

    MedlinePlus Videos and Cool Tools

    ... causing an unequal exchange of blood. The recipient twin is at risk for heart failure receiving too much blood from ... its heart to work harder, while the donor twin is at risk for loss of blood. Laser surgery may be ...

  8. A study of genetic and environmental contributions to structural brain changes over time in twins concordant and discordant for bipolar disorder.

    PubMed

    Bootsman, F; Brouwer, R M; Schnack, H G; Kemner, S M; Hillegers, M H J; Sarkisyan, G; van der Schot, A C; Vonk, R; Hulshoff Pol, H E; Nolen, W A; Kahn, R S; van Haren, N E M

    2016-08-01

    This is the first longitudinal twin study examining genetic and environmental contributions to the association between liability to bipolar disorder (BD) and changes over time in global brain volumes, and global and regional measures of cortical surface area, cortical thickness and cortical volume. A total of 50 twins from pairs discordant or concordant for BD (monozygotic: 8 discordant and 3 concordant pairs, and 1 patient and 3 co-twins from incomplete pairs; dizygotic: 6 discordant and 2 concordant pairs, and 1 patient and 7 co-twins from incomplete pairs) underwent magnetic resonance imaging twice. In addition, 57 twins from healthy twin pairs (15 monozygotic and 10 dizygotic pairs, and 4 monozygotic and 3 dizygotic subjects from incomplete pairs) were also scanned twice. Mean follow-up duration for all twins was 7.5 years (standard deviation: 1.5 years). Data were analyzed using structural equation modeling software OpenMx. The liability to BD was not associated with global or regional structural brain changes over time. Although we observed a subtle increase in cerebral white matter in BD patients, this effect disappeared after correction for multiple comparisons. Heritability of brain changes over time was generally low to moderate. Structural brain changes appear to follow similar trajectories in BD patients and healthy controls. Existing brain abnormalities in BD do not appear to progressively change over time, but this requires additional confirmation. Further study with large cohorts is recommended to assess genetic and environmental influences on structural brain abnormalities in BD, while taking into account the influence of lithium on the brain. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. Validation of a telephone zygosity questionnaire in twins of known zygosity.

    PubMed

    Peeters, H; Van Gestel, S; Vlietinck, R; Derom, C; Derom, R

    1998-05-01

    The aim of this study was to validate a zygosity questionnaire that can be administered over the telephone. Mothers of same-sexed twins of known zygosity and chronicity between 2 and 31 years of age were interviewed on a nine-item questionnaire. From the answers one unweighted and four weighted indices were computed. As single questions, the mother's opinion and the "two peas in a pod" question differentiated best between monozygotic and dizygotic twins. One independent well-trained observer assessed the zygosity based on the questionnaire and made the correct diagnosis in 96% of the cases. A weighted index of eight similarity questions yielded an accuracy of 98%. This study shows that the zygosity of same-sexed twins more than 2 years old and without gross physical malformation can reliably be determined by a telephone questionnaire with a high accuracy.

  10. [The Murcia Twin Registry. A resource for research on health-related behaviour].

    PubMed

    Ordoñana, Juan R; Sánchez Romera, Juan F; Colodro-Conde, Lucía; Carrillo, Eduvigis; González-Javier, Francisca; Madrid-Valero, Juan J; Morosoli-García, José J; Pérez-Riquelme, Francisco; Martínez-Selva, José M

    2017-03-08

    Genetically informative designs and, in particular, twin studies, are the most widely used methodology to analyse the relative contribution of genetic and environmental factors to inter-individual variability. These studies basically compare the degree of phenotypical similarity between monozygotic and dizygotic twin pairs. In addition to the traditional estimate of heritability, this kind of registry enables a wide variety of analyses which are unique due to the characteristics of the sample. The Murcia Twin Registry is population-based and focused on the analysis of health-related behaviour. The observed prevalence of health problems is comparable to that of other regional and national reference samples, which guarantees its representativeness. Overall, the characteristics of the Registry facilitate developing various types of research as well as genetically informative designs, and collaboration with different initiatives and consortia. Copyright © 2016 SESPAS. Publicado por Elsevier España, S.L.U. All rights reserved.

  11. Heritability of pain catastrophizing and associations with experimental pain outcomes: a twin study.

    PubMed

    Trost, Zina; Strachan, Eric; Sullivan, Michael; Vervoort, Tine; Avery, Ally R; Afari, Niloofar

    2015-03-01

    This study used a twin paradigm to examine genetic and environmental contributions to pain catastrophizing and the observed association between pain catastrophizing and cold-pressor task (CPT) outcomes. Male and female monozygotic (n = 206) and dizygotic twins (n = 194) from the University of Washington Twin Registry completed a measure of pain catastrophizing and performed a CPT challenge. As expected, pain catastrophizing emerged as a significant predictor of several CPT outcomes, including cold-pressor Immersion Tolerance, Pain Tolerance, and Delayed Pain Rating. The heritability estimate for pain catastrophizing was found to be 37% with the remaining 63% of variance attributable to unique environmental influence. Additionally, the observed associations between pain catastrophizing and CPT outcomes were not found attributable to shared genetics or environmental exposure, which suggests a direct relationship between catastrophizing and experimental pain outcomes. This study is the first to examine the heritability of pain catastrophizing and potential processes by which pain catastrophizing is related to experimental pain response.

  12. Attitudes to Gun Control in an American Twin Sample: Sex Differences in the Causes of Variation.

    PubMed

    Eaves, Lindon J; Silberg, Judy L

    2017-10-01

    The genetic and social causes of individual differences in attitudes to gun control are estimated in a sample of senior male and female twin pairs in the United States. Genetic and environmental parameters were estimated by weighted least squares applied to polychoric correlations for monozygotic (MZ) and dizygotic (DZ) twins of both sexes. The analysis suggests twin similarity for attitudes to gun control in men is entirely genetic while that in women is purely social. Although the volunteer sample is small, the analysis illustrates how the well-tested concepts and methods of genetic epidemiology may be a fertile resource for deepening our scientific understanding of biological and social pathways that affect individual risk to gun violence.

  13. Genetic regulation of immunoglobulin and specific antibody levels in twins reared apart.

    PubMed Central

    Kohler, P F; Rivera, V J; Eckert, E D; Bouchard, T J; Heston, L L

    1985-01-01

    We studied the effect of the same genetic but different environmental factors on total immunoglobulin and specific antibody levels in twins reared apart. Sera were analyzed from 26 monozygotic (MZ) and 10 dizygotic (DZ) twin pairs, who were separated on average 2 mo after birth and reared apart. Total IgM, IgG, and IgA were measured by single radial diffusion. Specific antibodies of each isotype to tetanus toxoid, and to polyvalent and type 14 pneumococcal capsular polysaccharides were measured by a solid-phase antigen-enzyme-labeled anti-Ig immunoassay. One-way analysis of variance showed intrapair total Ig and antibody levels to be more highly correlated in MZ compared with DZ twins. Our results indicate that genetic factors are more important than environment in regulating these humoral immune responses. PMID:4038983

  14. The Role of Nature and Nurture for Individual Differences in Primary Emotional Systems: Evidence from a Twin Study

    PubMed Central

    Reuter, Martin; Spinath, Frank M.; Davis, Ken; Panksepp, Jaak

    2016-01-01

    The present study investigated for the first time the relative importance of genetics and environment on individual differences in primary emotionality as measured with the Affective Neuroscience Personality Scales (ANPS) by means of a twin-sibling study design. In N = 795 participants (n = 303 monozygotic twins, n = 172 dizygotic twins and n = 267 non-twin full siblings), moderate to strong influences of genetics on individual differences in these emotional systems are observed. Lowest heritability estimates are presented for the SEEKING system (33%) and highest for the PLAY system (69%). Further, multivariate genetic modeling was applied to the data showing that associations among the six ANPS scales were influences by both, a genetic as well as an environmental overlap between them. In sum, the study underlines the usefulness of the ANPS for biologically oriented personality psychology research. PMID:26999649

  15. The Role of Nature and Nurture for Individual Differences in Primary Emotional Systems: Evidence from a Twin Study.

    PubMed

    Montag, Christian; Hahn, Elisabeth; Reuter, Martin; Spinath, Frank M; Davis, Ken; Panksepp, Jaak

    2016-01-01

    The present study investigated for the first time the relative importance of genetics and environment on individual differences in primary emotionality as measured with the Affective Neuroscience Personality Scales (ANPS) by means of a twin-sibling study design. In N = 795 participants (n = 303 monozygotic twins, n = 172 dizygotic twins and n = 267 non-twin full siblings), moderate to strong influences of genetics on individual differences in these emotional systems are observed. Lowest heritability estimates are presented for the SEEKING system (33%) and highest for the PLAY system (69%). Further, multivariate genetic modeling was applied to the data showing that associations among the six ANPS scales were influences by both, a genetic as well as an environmental overlap between them. In sum, the study underlines the usefulness of the ANPS for biologically oriented personality psychology research.

  16. Synesthesia in twins: incomplete concordance in monozygotes suggests extragenic factors.

    PubMed

    Bosley, Hannah G; Eagleman, David M

    2015-06-01

    Colored-sequence synesthesia (CSS) is a neurological condition in which sequential stimuli such as letters, numbers, or days of the week trigger simultaneous, involuntary color perception. Although the condition appears to run in families and several studies have sought a genetic link, the genetic contribution to synesthesia remains unclear. We conducted the first comparative twin study of CSS and found that CSS has a pairwise concordance of 73.9% in monozygotic twins, and a pairwise concordance of 36.4% in dizygotic twins. In line with previous studies, our results suggest a heritable element of synesthesia. However, consonant with the findings of previous single-pair case studies, our large sample size verifies that synesthesia is not completely conferred by genetics; if it were, monozygotic twins should have 100% concordance. These findings implicate a genetic mechanism of CSS that may work differently than previously thought: collectively, our data suggest that synesthesia is a heritable condition with incomplete penetrance that is substantially influenced by epigenetic and environmental factors. Copyright © 2015 Elsevier B.V. All rights reserved.

  17. Heritability of myopic refractive errors in identical and fraternal twins.

    PubMed

    Angi, M R; Clementi, M; Sardei, C; Piattelli, E; Bisantis, C

    1993-10-01

    The existence of a visual feedback control of eye growth in humans is controversial, as the contributions of genetic and environmental factors are still unknown. To evaluate the heritability of refractive defects, we measured ocular refraction in 19 monozygote and 20 dizygote twin pairs (mean age 5 years). Monozygosity was ascertained by a common chorion, similarity of somatic traits, and identical dermatogliphes and was confirmed in myopes by blood marker diagnosis. Ocular refractive defects and axial length were evaluated by cycloplegic autorefractometry and biometry. By comparing identical and fraternal twins heritability of refractive defects was estimated to be 0.08-0.14; this low value indicates that the observed variability in refractive errors is nongenetic in origin. Three monozygote pairs were anisomyopic; differences between eyes in identical twins were related to the increased axial length of myopic eyes. In one eye, myopia was attributed to visual deprivation induced by a congenital cataract, while in five eyes it was correlated directly to the degree of astigmatic defects. The discordant axial length observed in monozygote twins is nongenetic. In agreement with previous findings reported in the literature, it is proposed that visual impoverishment of retinal images may play an early regulatory role in postnatal eye growth.

  18. Are twins and singletons comparable? A study of disease-related and lifestyle characteristics in adult women.

    PubMed

    Andrew, T; Hart, D J; Snieder, H; de Lange, M; Spector, T D; MacGregor, A J

    2001-12-01

    The classic twin study is sometimes described as "the perfect natural experiment" for the investigation of the aetiology of complex disease, but assumptions of the twin design need to be empirically tested if their results are to be considered unbiased and representative of singleton populations. In this study comparisons of disease and prevalence of lifestyle characteristics have been made between twin participants in the St Thomas' Hospital UK adult twin registry, the largest twin volunteer register in the UK for the study of diseases of ageing, and a parallel population-based study of singleton women. The only differences found were for weight, where monozygotic (MZ) twins were lighter and had a smaller variance than dizygotic (DZ) twins and singletons. For the other variables studied, volunteer twins were not found to differ from age-matched singleton women in distribution or prevalence of: bone mineral density, osteoarthritis, blood pressure, hypertensive drug use, height, history of hysterectomy and ovariectomy, menopausal status and current alcohol and overall tobacco consumption. We conclude that the results of twin studies can be generalised to singleton populations for these measures and disease outcomes.

  19. The higher frequency of IgA deficiency among Swedish twins is not explained by HLA haplotypes.

    PubMed

    Frankowiack, M; Kovanen, R-M; Repasky, G A; Lim, C K; Song, C; Pedersen, N L; Hammarström, L

    2015-01-01

    Serum immunoglobulin A (IgA) concentrations were determined in 12 600 adult Swedish twins, applying a high-throughput reverse-phase protein microarray technique. The prevalence of IgA deficiency (IgAD) was found to be 1:241 in monozygotic (MZ) twins and 1:198 in dizygotic (DZ) twins. Hence, the prevalence in twins is markedly elevated as compared with the normal Swedish adult population (1:600). The twins did not show a difference in the frequency of HLA haplotypes in comparison with almost 40 000 healthy Swedish controls. As expected, the risk-conveying HLA alleles A*01, B*08 and DRB1*01 were overrepresented among the IgAD twins and were also associated with significantly lower mean serum IgA concentrations in the twin cohort. In contrast, significantly higher mean IgA concentrations were found among individuals carrying the protective HLA alleles B*07 and DRB1*15. Exome sequencing data from two MZ twin pairs discordant for the deficiency showed no differences between the siblings. Model fitting analyses derived a heritability of 35% and indicate that genetic influences are modestly important for IgAD. The probandwise concordance rates for IgAD were found to be 31% for MZ and 13% for DZ twins.

  20. Fetal Intra-Peritoneal Transfusion for the Management of Very Early Spontaneous Twin Anemia-Polycythemia Sequence in an Obese Patient With a Whole Anterior Placenta.

    PubMed

    Guenot, Cécile; Robyr, Romaine; Jastrow, Nicole; Vial, Yvan; Raio, Luigi; Baud, David

    2016-04-01

    Twin anemia-polycythemia sequence (TAPS) is a rare condition in monochorionic twin pregnancies. Small intertwin placental vascular communications allow transfusion, which results in a hemoglobin difference in the twins in the absence of oligohydramnios or polyhydramnios. We report here a case of TAPS diagnosed at 17 weeks' gestation in an obese patient (BMI 42) with a whole anterior placenta. The only possible treatment at this stage of pregnancy was intra-uterine transfusion (IUT), which was repeated weekly until photocoagulation of placental anastomoses was feasible. Fetoscopic laser surgery is the only curative treatment, but is challenging in TAPS because of the absence of polyhydramnios and the presence of minuscule anastomoses. An anterior placenta and high BMI can make the procedure even more challenging. This case report demonstrates that very early and rapidly progressing TAPS with technically complicated conditions (elevated BMI and anterior placenta) can be successfully managed with IUT until laser procedure is achievable.

  1. The Nature and Nurture of Melody: A Twin Study of Musical Pitch and Rhythm Perception.

    PubMed

    Seesjärvi, Erik; Särkämö, Teppo; Vuoksimaa, Eero; Tervaniemi, Mari; Peretz, Isabelle; Kaprio, Jaakko

    2016-07-01

    Both genetic and environmental factors are known to play a role in our ability to perceive music, but the degree to which they influence different aspects of music cognition is still unclear. We investigated the relative contribution of genetic and environmental effects on melody perception in 384 young adult twins [69 full monozygotic (MZ) twin pairs, 44 full dizygotic (DZ) twin pairs, 70 MZ twins without a co-twin, and 88 DZ twins without a co-twin]. The participants performed three online music tests requiring the detection of pitch changes in a two-melody comparison task (Scale) and key and rhythm incongruities in single-melody perception tasks (Out-of-key, Off-beat). The results showed predominantly additive genetic effects in the Scale task (58 %, 95 % CI 42-70 %), shared environmental effects in the Out-of-key task (61 %, 49-70 %), and non-shared environmental effects in the Off-beat task (82 %, 61-100 %). This highly different pattern of effects suggests that the contribution of genetic and environmental factors on music perception depends on the degree to which it calls for acquired knowledge of musical tonal and metric structures.

  2. Heritability of refractive error and ocular biometrics: the Genes in Myopia (GEM) twin study.

    PubMed

    Dirani, Mohamed; Chamberlain, Matthew; Shekar, Sri N; Islam, Amirul F M; Garoufalis, Pam; Chen, Christine Y; Guymer, Robyn H; Baird, Paul N

    2006-11-01

    A classic twin study was undertaken to assess the contribution of genes and environment to the development of refractive errors and ocular biometrics in a twin population. A total of 1224 twins (345 monozygotic [MZ] and 267 dizygotic [DZ] twin pairs) aged between 18 and 88 years were examined. All twins completed a questionnaire consisting of a medical history, education, and zygosity. Objective refraction was measured in all twins, and biometric measurements were obtained using partial coherence interferometry. Intrapair correlations for spherical equivalent and ocular biometrics were significantly higher in the MZ than in the DZ twin pairs (P < 0.05), when refraction was considered as a continuous variable. A significant gender difference in the variation of spherical equivalent and ocular biometrics was found (P < 0.05). A genetic model specifying an additive, dominant, and unique environmental factor that was sex limited was the best fit for all measured variables. Heritability of spherical equivalents of 88% and 75% were found in the men and women, respectively, whereas, that of axial length was 94% and 92%, respectively. Additive genetic effects accounted for a greater proportion of the variance in spherical equivalent, whereas the variance in ocular biometrics, particularly axial length was explained mostly by dominant genetic effects. Genetic factors, both additive and dominant, play a significant role in refractive error (myopia and hypermetropia) as well as in ocular biometrics, particularly axial length. The sex limitation ADE model (additive genetic, nonadditive genetic, and environmental components) provided the best-fit genetic model for all parameters.

  3. [Genetic and environmental contributions to body mass index in a Spanish adolescent twin sample].

    PubMed

    Iranzo-Tatay, Carmen; Gimeno-Clemente, Natalia; Livianos-Aldana, Lorenzo; Rojo-Moreno, Luis

    2015-08-21

    Twin and family studies support large genetic influences on variability in body mass index (BMI), with heritability estimates ranging from 47% to over 90%. Our objective was to study the relative contributions of genetics and environment to BMI, evaluating sex differences, in an adolescent twin sample from Valencia, Spain. Five hundred eighty-four pairs of adolescent twins between 13 and 18 years of age completed the study (82 monozygotic [MZ] and 87 dizygotic [DZ] pairs of male twins, 118 MZ and 102 DZ pairs of female twins, and 195 opposite-sex pairs of DZ twins). To determine zygosity, teachers responded a questionnaire on physical similarity. They also measured the participant's height and weight. BMI was calculated and weight status was determined according to age. We used twin models to assess genetic and environmental (common and unique) factors affecting BMI. There was a 7.1% frequency of overweight and 2.8% of obesity. The estimated heritability of BMI was 88.0% in boys and 72.1% in girls, with the remaining variance attributable to non-shared environment in boys (12.0%) and 8.8% in girls. It was only in girls that common environment had an effect on BMI. Genetics appears to play an important role in explaining the variability in BMI in the adolescence, with slight variations between boys and girls. Common environmental factors exert their influence on BMI only in girls. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  4. Ecosensitivity and genetic polymorphism of somatic traits in the perinatal development of twins.

    PubMed

    Waszak, Małgorzata; Cieślik, Krystyna; Skrzypczak-Zielińska, Marzena; Szalata, Marlena; Wielgus, Karolina; Kempiak, Joanna; Bręborowicz, Grzegorz; Słomski, Ryszard

    2016-04-01

    In view of criticism regarding the usefulness of heritability coefficients, the aim of this study was to analyze separately the information on genetic and environmental variability. Such an approach, based on the normalization of trait's variability for its value, is determined by the coefficients of genetic polymorphism (Pg) and ecosensitivity (De). The studied material included 1263 twin pairs of both sexes (among them 424 pairs of monozygotic twins and 839 pairs of dizygotic twins) born between the 22nd and 41st week of gestation. Variability of six somatic traits was analyzed. The zygosity of same-sex twins was determined based on the polymorphism of DNA from lymphocytes of the umbilical cord blood, obtained at birth. The coefficients of genetic polymorphism and ecosensitivity for analyzed traits of male and female twins born at various months of gestation were calculated. Our study revealed that a contribution of the genetic component predominated over that of the environmental component in determining the phenotypic variability of somatic traits of newborns from twin pregnancies. The genetically determined phenotypic variability in male twins was greater than in the females. The genetic polymorphism and ecosensitivity of somatic traits were relatively stable during the period of fetal ontogeny analyzed in this study. Only in the case of body weight, a slight increase in the genetic contribution of polygenes to the phenotypic variance could be observed with gestational age, along with a slight decrease in the influence of environmental factors. Copyright © 2015 Elsevier GmbH. All rights reserved.

  5. What effect does classroom separation have on twins' behavior, progress at school, and reading abilities?

    PubMed

    Tully, Lucy A; Moffitt, Terrie E; Caspi, Avshalom; Taylor, Alan; Kiernan, Helena; Andreou, Penny

    2004-04-01

    We investigated the effects of classroom separation on twins' behavior, progress at school, and reading abilities. This investigation was part of a longitudinal study of a nationally-representative sample of twins (the E-risk Study) who were assessed at the start of school (age 5) and followed up (age 7). We examined three groups of twins: pairs who were in the same class at both ages; pairs who were in separate classes at both ages; and pairs who were in the same class at age 5, but separated by age 7. When compared to those not separated, those separated early had significantly more teacher-rated internalizing problems and those separated later showed more internalizing problems and lower reading scores. Monozygotic (MZ) twins showed more problems as a result of separation than dizygotic (DZ) twins. No group differences emerged for externalizing problems, ADHD or prosocial behaviors. The implications of the findings for parents and teachers of twins, and for school practices about separating twins, are discussed.

  6. Editor's Choice - High Heritability of Liability to Abdominal Aortic Aneurysms: A Population Based Twin Study.

    PubMed

    Joergensen, T M M; Christensen, K; Lindholt, J S; Larsen, L A; Green, A; Houlind, K

    2016-07-01

    First degree relatives of patients with abdominal aortic aneurysm (AAA) have an increased risk of developing AAA; however, despite intensive investigation, the specific genetic factors involved in the development of the disease are still largely unknown. In twin studies the influence of genetic and environmental factors can be assessed by comparing concordance rates between monozygotic (MZ) and dizygotic (DZ) twins. Higher phenotypic similarity between MZ than DZ twins indicates a genetic attribution to the etiology. The objective of this study was to investigate the heritability of AAA among Danish twins using concordance rates and heritability estimates. The Danish Twin Registry was used to identify all Danish twin pairs (born 1880-1971) where both twins were alive on January 1, 1977. AAA cases were then identified using the National Patient Registry and the Registry of Cause of Death. Probandwise concordance rates were calculated and heritability estimated using structural equation modeling. The study identified 414 twins with AAA; 69.8% (289/414) were men and 30.2% (125/414) women. The probandwise concordance rate in MZ twins was 30% (95% CI 20.3-43.3%) compared with 12% (95% CI 7.0-20.1%) in DZ twins. In the heritability analysis 77% (95% CI 67-85%) of the total variance was explained by additive genetic components and 23% (95% CI 15-33%) was explained by non-shared environmental factors. The probandwise concordance rate was found to be 2.5 times higher in MZ compared with DZ twins. An overall heritability of 77% was determined. Copyright © 2016 European Society for Vascular Surgery. Published by Elsevier Ltd. All rights reserved.

  7. Relationship between the cortisol levels in umbilical cord blood and neonatal RDS/TTN in twin pregnancies.

    PubMed

    Tsuda, Hiroyuki; Kotani, Tomomi; Sumigama, Seiji; Mano, Yukio; Nakano, Tomoko; Hua, Li; Kikkawa, Fumitaka

    2016-01-01

    Twin neonates have a higher risk of respiratory complications, such as respiratory distress syndrome (RDS) and transient tachypnea of the newborn (TTN), than singleton neonates. The purpose of this study was to evaluate the relationship between the cortisol levels in the umbilical cord and neonatal RDS/TTN in twin pregnancies. We analyzed data obtained from 106 neonates (53 twin pairs), comprising 33 dichorionic twin (DCT) and 20 monochorionic twin (MCT) gestations. All infants were delivered via scheduled cesarean section without labor. We measured the cortisol levels in umbilical vein blood using enzyme-linked immunosorbent assay. The cortisol levels in the umbilical vein were significantly lower in the RDS/TTN group than in the no RDS/TTN group (p = 0.004). The umbilical cortisol levels in the TTN group were between the values observed in the RDS group and no RDS/TTN group. We subsequently analyzed the cut-off cortisol values for RDS/TTN and observed higher accuracy in the DCTs than in the MCTs. Neonates who develop RDS/TTN have significantly lower cortisol levels in the umbilical cord at birth than no RDS/TTN neonates in twin pregnancies. When applying these data in clinical practice, physicians should pay attention to differences based on chorionicity.

  8. Treatment of Complicated Spontaneous Twin Anemia-Polycythemia Sequence via Fetoscopic Laser Ablation of the Vascular Communications.

    PubMed

    Abdel-Sattar, Mira; Platt, Larry D; DeVore, Greggory; Porto, Manuel; Benirschke, Kurt; Chmait, Ramen H

    2015-01-01

    Monochorionic diamniotic twins share a single placenta and have intertwin vascular communications that link the circulatory systems of the twins together. Twin anemia-polycythemia sequence (TAPS) is an atypical form of twin-twin transfusion syndrome (TTTS) caused by net transfer of blood from one fetus to the other and is characterized by large intertwin hemoglobin differences in the absence of oligohydramnios and polyhydramnios. This condition may develop spontaneously (sTAPS) or as a result of residual vascular communications after prior laser surgery. Because of the relatively low prevalence and lack of clinical awareness, the natural history of sTAPS is unclear and the antenatal treatment remains controversial. Case series of sTAPS have described expectant management with timed delivery, intrauterine blood transfusion, and fetoscopic laser treatment. Favorable outcomes have been described in cases of uncomplicated sTAPS that underwent conservative measures. However, we believe that there may be a subgroup of high-risk or complicated sTAPS patients that may benefit from definitive treatment afforded by fetoscopic laser therapy. We describe 3 complicated cases of sTAPS successfully treated with selective laser photocoagulation of communicating vessels. In 2 of the cases, placental pathology identified thrombosed fetal vessels of the polycythemic twin. © 2014 S. Karger AG, Basel.

  9. A genetic analysis of the Epworth Sleepiness Scale in 1560 World War II male veteran twins in the NAS-NRC Twin Registry.

    PubMed

    Carmelli, D; Bliwise, D L; Swan, G E; Reed, T

    2001-03-01

    Responses to the eight-item Epworth Sleepiness Scale (ESS) obtained from 1560 World War II male veteran twin pairs [818 monozygotic (MZ), 742 dizygotic (DZ)] were analysed to determine the extent to which genetic influences are involved in self-reported daytime sleepiness in the elderly. Average ESS score (+/- SD) in this sample was 7.1 +/- 3.9, range 0--24. More than half of the twins (65%--67%) reported a moderate to high chance of falling asleep while lying down to rest; fewer than 3% admitted that this would occur while sitting and talking to someone or while stopped in traffic. Daytime sleepiness was not associated with age but was significantly and positively associated with obesity. The intraclass twin correlation on ESS scores was 0.39 in MZ pairs and 0.21 in DZ pairs (both P < 0.001). Structural equation modeling of the observed variance-covariance matrices for MZ and DZ twins estimated the heritability of ESS to be 38% (95% confidence interval 33%--44%). Environmental influences not shared by twin brothers accounted for the remaining variance in daytime sleepiness. A reasonable interpretation of the heritability of ESS in this healthy cohort of elderly male twins is a genetic susceptibility for disordered breathing during sleep.

  10. Do twins share the same dress code? Quantifying relative genetic and environmental contributions to subjective perceptions of "the dress" in a classical twin study.

    PubMed

    Mahroo, Omar A; Williams, Katie M; Hossain, Ibtesham T; Yonova-Doing, Ekaterina; Kozareva, Diana; Yusuf, Ammar; Sheriff, Ibrahim; Oomerjee, Mohamed; Soorma, Talha; Hammond, Christopher J

    2017-01-01

    The phenomenon of contrasting color perceptions of "the dress" photograph has gained scientific interest. The mechanism underlying why individuals differ is yet to be fully explained. We use the powerful twin model design to ascertain the relative contribution of genetic and environmental factors on perception variation. A sample of 466 twins from the British TwinsUK registry were invited to report what color they saw in a standard image of the dress in standard illumination. The mean age of the participants was 49.5 (SD = 17.8) years, and 85% were female. When asked to choose between white and gold (WG) or blue and black (BB), 328 reported WG (70.4%) and 135 (29.0%) reported BB. Subjects choosing WG were significantly older (p < 0.01), but there was no significant difference in gender. Monozygotic (MZ) twins were more concordant in their responses than dizygotic (DZ) twins (0.46 vs. 0.36). Twin modeling revealed that genetic factors accounted for 34% (95% confidence interval, 5%-59%) of variation in the reported color of the dress when adjusted for age, whereas environmental factors contributed 66% (95% CI, 41%-95%). This study suggests environmental factors play a significant role in how an individual perceives the color of "the dress."

  11. Rapid Resolution of Polyhydramnios Foretells Circulatory Collapse for the Donor Twin in Feto-Fetal Transfusion Syndrome.

    PubMed

    López-Cepero, Ronald; Santoro, Joseph; de la Vega, Alberto

    2016-03-01

    Feto-fetal transfusion syndrome is a pathological process unique to diamniotic monochorionic pregnancies. It is the consequence of an unbalanced fetal blood flow through communicating vessels within a shared placenta. When it occurs, a polyuric, hypervolemic recipient twin co-exists with a hypovolemic oliguric donor. The presence of polyhydramnios or oligohydramnios is considered a poor prognostic indicator, whereas normal amniotic fluid volumes indicate a lack of clinically significant twintwin transfusion. In addition, the spontaneous normalization of amniotic fluid volume is usually seen as a favorable prognostic sign. Here, however, we present a case of feto-fetal transfusion in a 31 year-old primigravida at 19 week, in which the spontaneous normalization of amniotic fluid volume in the recipient twin preceded the death of the donor.

  12. Twin Jet

    NASA Technical Reports Server (NTRS)

    Henderson, Brenda; Bozak, Rick

    2010-01-01

    Many subsonic and supersonic vehicles in the current fleet have multiple engines mounted near one another. Some future vehicle concepts may use innovative propulsion systems such as distributed propulsion which will result in multiple jets mounted in close proximity. Engine configurations with multiple jets have the ability to exploit jet-by-jet shielding which may significantly reduce noise. Jet-by-jet shielding is the ability of one jet to shield noise that is emitted by another jet. The sensitivity of jet-by-jet shielding to jet spacing and simulated flight stream Mach number are not well understood. The current experiment investigates the impact of jet spacing, jet operating condition, and flight stream Mach number on the noise radiated from subsonic and supersonic twin jets.

  13. Investigating brain connectivity heritability in a twin study using diffusion imaging data

    PubMed Central

    Shen, Kai-Kai; Rose, Stephen; Fripp, Jurgen; McMahon, Katie L.; de Zubicaray, Greig I.; Martin, Nicholas G.; Thompson, Paul M.; Wright, Margaret J.; Salvado, Olivier

    2014-01-01

    Heritability of brain anatomical connectivity has been studied with diffusion-weighted imaging (DWI) mainly by modeling each voxel's diffusion pattern as a tensor (e.g., to compute fractional anisotropy), but this method cannot accurately represent the many crossing connections present in the brain. We hypothesized that different brain networks (i.e., their component fibers) might have different heritability and we investigated brain connectivity using High Angular Resolution Diffusion Imaging (HARDI) in a cohort of twins comprising 328 subjects that included 70 pairs of monozygotic and 91 pairs of dizygotic twins. Water diffusion was modeled in each voxel with a Fiber Orientation Distribution (FOD) function to study heritability for multiple fiber orientations in each voxel. Precision was estimated in a test–retest experiment on a sub-cohort of 39 subjects. This was taken into account when computing heritability of FOD peaks using an ACE model on the monozygotic and dizygotic twins. Our results confirmed the overall heritability of the major white matter tracts but also identified differences in heritability between connectivity networks. Inter-hemispheric connections tended to be more heritable than intra-hemispheric and cortico-spinal connections. The highly heritable tracts were found to connect particular cortical regions, such as medial frontal cortices, postcentral, paracentral gyri, and the right hippocampus. PMID:24973604

  14. Influence of genetic and environmental factors on oral diseases and function in aged twins.

    PubMed

    Kurushima, Y; Ikebe, K; Matsuda, K; Enoki, K; Ogata, S; Yamashita, M; Murakami, S; Hayakawa, K; Maeda, Y

    2015-01-01

    This study was conducted to quantify the genetic and environmental contributions to oral disease and function in twins. Participants were middle-aged and old twins, 116 monozygotic and 16 dizygotic pairs whose mean age was 66·1 ± 10·3 (SD) years. Number of teeth, percentage of decayed, filled and missing teeth and periodontal status were recorded as indicators of oral disease. The widths of upper and lower dental arch served as indicators of morphological figures. Furthermore, stimulated salivary flow rate, occlusal force and masticatory performance were measured as indicators of oral function. Univariate genetic analysis with monozygotic and dizygotic twin pairs was conducted to detect the fittest structural equation model of each outcome. Both number of teeth and periodontal status fitted the model composed of common environmental factor and unique environmental factor. Decayed, filled and missing teeth, morphological figures and measurements of oral function fitted the model composed of additive genetic factor and unique environmental factor. The model fitting of each measurement suggested that periodontal disease was mainly affected by environmental factors, while morphological figures and oral functions were influenced by both genetic and environmental factors.

  15. Gene, environment and cognitive function: a Chinese twin ageing study.

    PubMed

    Xu, Chunsheng; Sun, Jianping; Duan, Haiping; Ji, Fuling; Tian, Xiaocao; Zhai, Yaoming; Wang, Shaojie; Pang, Zengchang; Zhang, Dongfeng; Zhao, Zhongtang; Li, Shuxia; Gue, Matt Mc; Hjelmborg, Jacob V B; Christensen, Kaare; Tan, Qihua

    2015-05-01

    the genetic and environmental contributions to cognitive function in the old people have been well addressed for the Western populations using twin modelling showing moderate to high heritability. No similar study has been conducted in the world largest and rapidly ageing Chinese population living under distinct environmental condition as the Western populations. this study aims to explore the genetic and environmental impact on normal cognitive ageing in the Chinese twins. cognitive function was measured on 384 complete twin pairs with median age of 50 years for seven cognitive measurements including visuospatial, linguistic skills, naming, memory, attention, abstraction and orientation abilities. Data were analysed by fitting univariate and bivariate twin models to estimate the genetic and environmental components in the variance and co-variance of the cognitive assessments. intra-pair correlation on cognitive measurements was low to moderate in monozygotic twins (0.23-0.41, overall 0.42) and low in dizygotic twins (0.05-0.30, overall 0.31) with the former higher than the latter for each item. Estimate for heritability was moderate for overall cognitive function (0.44, 95% CI: 0.34-0.53) and low to moderate for visuospatial, naming, attention and orientation abilities ranging from 0.28 to 0.38. No genetic contribution was estimated to linguistic skill, abstraction and memory which instead were under low to moderate control by shared environmental factors accounting for 23-33% of the total variances. In contrast, all cognitive performances showed moderate to high influences by the unique environmental factors. genetic factor and common family environment have a limited contribution to cognitive function in the Chinese adults. Individual unique environment is likely to play a major role in determining the levels of cognitive performance. © The Author 2015. Published by Oxford University Press on behalf of the British Geriatrics Society. All rights reserved. For

  16. The Concordance and Heritability of Type 2 Diabetes in 34,166 Twin Pairs From International Twin Registers: The Discordant Twin (DISCOTWIN) Consortium.

    PubMed

    Willemsen, Gonneke; Ward, Kirsten J; Bell, Christopher G; Christensen, Kaare; Bowden, Jocelyn; Dalgård, Christine; Harris, Jennifer R; Kaprio, Jaakko; Lyle, Robert; Magnusson, Patrik K E; Mather, Karen A; Ordoňana, Juan R; Perez-Riquelme, Francisco; Pedersen, Nancy L; Pietiläinen, Kirsi H; Sachdev, Perminder S; Boomsma, Dorret I; Spector, Tim

    2015-12-01

    Twin pairs discordant for disease may help elucidate the epigenetic mechanisms and causal environmental factors in disease development and progression. To obtain the numbers of pairs, especially monozygotic (MZ) twin pairs, necessary for in-depth studies while also allowing for replication, twin studies worldwide need to pool their resources. The Discordant Twin (DISCOTWIN) consortium was established for this goal. Here, we describe the DISCOTWIN Consortium and present an analysis of type 2 diabetes (T2D) data in nearly 35,000 twin pairs. Seven twin cohorts from Europe (Denmark, Finland, Norway, the Netherlands, Spain, Sweden, and the United Kingdom) and one from Australia investigated the rate of discordance for T2D in same-sex twin pairs aged 45 years and older. Data were available for 34,166 same-sex twin pairs, of which 13,970 were MZ, with T2D diagnosis based on self-reported diagnosis and medication use, fasting glucose and insulin measures, or medical records. The prevalence of T2D ranged from 2.6% to 12.3% across the cohorts depending on age, body mass index (BMI), and national diabetes prevalence. T2D discordance rate was lower for MZ (5.1%, range 2.9-11.2%) than for same-sex dizygotic (DZ) (8.0%, range 4.9-13.5%) pairs. Across DISCOTWIN, 720 discordant MZ pairs were identified. Except for the oldest of the Danish cohorts (mean age 79), heritability estimates based on contingency tables were moderate to high (0.47-0.77). From a meta-analysis of all data, the heritability was estimated at 72% (95% confidence interval 61-78%). This study demonstrated high T2D prevalence and high heritability for T2D liability across twin cohorts. Therefore, the number of discordant MZ pairs for T2D is limited. By combining national resources, the DISCOTWIN Consortium maximizes the number of discordant MZ pairs needed for in-depth genotyping, multi-omics, and phenotyping studies, which may provide unique insights into the pathways linking genes to the development of many

  17. Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

    PubMed

    Shotelersuk, V; Tifft, C J; Vacha, S; Peters, K F; Biesecker, L G

    1999-09-17

    The oral-facial-digital syndrome type 1 (OFD1) includes limb, facial, intraoral malformations and the gene for the disorder was recently mapped to Xp22.3-p22.2. We report on monozygotic twin girls discordant for OFD1. Monozygosity is supported by placental pathology (monochorionic diamniotic) and molecular studies with probability of dizygosity <1 x 10(-6). The affected twin has oral cavity abnormalities including median cleft lip, cleft palate, lobulated hamartomatous tongue, aberrant hyperplastic oral frenula, alveolar notches, and absent lateral incisors. Facial manifestations include telecanthus, hypoplastic alae nasi, and transient neonatal facial milia. The patient also has short and deviated fingers with partial cutaneous syndactyly. At 10 years, she has not had central nervous system or kidney problems. X-inactivation study revealed similar X-inactivation patterns in the lymphoblasts of both twins. We conclude that skewed X-inactivation is an unlikely cause for the discordance, which is more likely due to a postzygotic mutation in the affected twin. Copyright 1999 Wiley-Liss, Inc.

  18. Heritability of changes in brain volume over time in twin pairs discordant for schizophrenia.

    PubMed

    Brans, Rachel G H; van Haren, Neeltje E M; van Baal, G Caroline M; Schnack, Hugo G; Kahn, René S; Hulshoff Pol, Hilleke E

    2008-11-01

    Structural brain abnormalities have consistently been found in schizophrenia, with increased familial risk for the disease associated with these abnormalities. Some brain volume changes are progressive over the course of the illness. Whether these progressive brain volume changes are mediated by genetic or disease-related factors is unknown. To investigate whether genetic and/or environmental factors are associated with progressive brain volume changes in schizophrenia. Longitudinal 5-year follow-up in monozygotic (MZ) and dizygotic (DZ) twin pairs discordant for schizophrenia and healthy comparison twin pairs using brain magnetic resonance imaging. Participants were recruited from the twin pair cohort at the University Medical Center Utrecht. A total of 92 participants completed the study: 9 MZ and 10 DZ twin pairs discordant for schizophrenia and 14 MZ and 13 DZ healthy twin pairs. Percentage volume changes of the whole brain; cerebral gray and white matter of the frontal, temporal, parietal, and occipital lobes; cerebellum; and lateral and third ventricles over time between and within twin pairs were compared using repeated measures analysis of covariance. Structural equation modeling was applied to estimate contributions of additive genetic and common and unique environmental factors. Significant decreases over time in whole brain and frontal and temporal lobe volumes were found in patients with schizophrenia and their unaffected co-twins compared with control twins. Bivariate structural equation modeling using cross-trait/cross-twin correlations revealed significant additive genetic influences on the correlations between schizophrenia liability and progressive whole brain (66%; 95% confidence interval [CI], 51%-100%), frontal lobe (76%; 95% CI, 54%-100%), and temporal lobe (79%; CI, 56%-100%) volume change. The progressive brain volume loss found in patients with schizophrenia and their unaffected co-twins is at least partly attributable to genetic factors

  19. Marital Status and Twins’ Health and Behavior: An Analysis of Middle-Aged Danish Twins

    PubMed Central

    Osler, Merete; McGue, Matt; Lund, Rikke; Christensen, Kaare

    2013-01-01

    Objective To disentangle the influences on health of selection processes related to genetic and rearing environmental factors from factors related to marriage benefits. We compared health status among same-sex male and female twin pairs who lived together during childhood and were discordant or concordant on adult marital status. Methods A cross-sectional survey of a random sample of middle-aged Danish twins was conducted in 1998 to 1999. This study included 1175 same-sex twin pairs (52.5% monozygotic (MZ) and 47.5% dizygotic (DZ)). Data were obtained on adult marital status and on height, body mass index (BMI), depression symptoms, self-rated health, cognitive function, physical activity, smoking, and alcohol intake. Results Among all 2350 individual twins, men who were divorced/widowed or never married had higher depression scores, lower cognitive test scores, lower physical activity scores, and were also less often moderate drinkers and nonsmokers compared with married men. Divorced/widowed women had higher depression scores and those divorced/widowed or never married were more often smokers than married women. Within twin pairs discordant on marital status, the divorced/widowed twin had higher average depression scores and was more likely to be a smoker. Never married twins had lower physical activity scores and never married male twins had higher BMI and higher depression scores than their married co-twin. Conclusion This study suggests that the relationships of adult divorce with depression and smoking in Danish twins are due to the stressful effects of marital dissolution, but that marital differences in other health and behavioral outcomes are most consistent with selection effects related to genetic or rearing environmental factors. PMID:18480194

  20. LINE-1 DNA methylation: A potential forensic marker for discriminating monozygotic twins.

    PubMed

    Xu, Jie; Fu, Guangping; Yan, Lina; Craig, Jeffery M; Zhang, Xiaojing; Fu, Lihong; Ma, Chunling; Li, Shujin; Cong, Bin

    2015-11-01

    Discriminating individuals within a pair of monozygotic (MZ) twins using genetic markers remains unresolved. This inability causes problems in criminal or paternity cases involving MZ twins as suspects or alleged fathers. Our previous study showed DNA methylation differences in interspersed repeat sequences such as Alu and LINE-1 within pairs of newborn MZ twins. To further evaluate the possible value of LINE-1 DNA methylation for discriminating MZ twins, this study investigated the LINE-1 DNA methylation of a large number of twins. We collected blood samples and buccal cell samples from 119 pairs of MZ and 57 pairs of dizygotic (DZ) twins. Genomic DNA was extracted and LINE-1 methylation level was detected using bisulfite pyrosequencing. The mean methylation level of the three CpG sites in the blood sample among the 176 unrelated individuals was 76.60% and 70.08% in buccal samples. This difference was significant, indicating the tissue specificity of LINE-1 DNA methylation. Among 119 pairs of MZ twins, 15 pairs could be discriminated according to the difference of CpG methylation level between them, which accounted for 12.61% of total number of MZ pairs. As for DZ twins, 10 pairs had significant differences between two individuals, which accounted for 17.54% of the total 57 DZ pairs. In conclusion, there are global DNA methylation differences within some healthy concordant monozygotic (MZ) twin pairs. LINE-1 DNA methylation might be a potential marker for helping to discriminate individuals within MZ twin pairs, and the tissue specificity must be considered in practice. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  1. Diversity of Gut Microbiota Metabolic Pathways in 10 Pairs of Chinese Infant Twins

    PubMed Central

    Wang, Yan; Zhou, Jianli; Zhou, Wenhao

    2016-01-01

    Early colonization of gut microbiota in human gut is a complex process. It remains unclear when gut microbiota colonization occurs and how it proceeds. In order to study gut microbiota composition in human early life, the present study recruited 10 healthy pairs of twins, including five monozygotic (MZ) and five dizygotic (DZ) twin pairs, whose age ranged from 0 to 6 years old. 20 fecal samples from these twins were processed by shotgun metagenomic sequencing, and their averaged data outputs were generated as 2G per sample. We used MEGAN5 to perform taxonomic and functional annotation of the metagenomic data, and systematically analyzed those 20 samples, including Jaccard index similarity, principle component, clustering, and correlation analyses. Our findings indicated that within our study group: 1) MZ-twins share more microbes than DZ twins or non-twin pairs, 2) gut microbiota distribution is relatively stable at metabolic pathways level, 3) age represents the strongest factor that can account for variation in gut microbiota, and 4) a clear metabolic pathway shift can be observed, which speculatively occurs around the age of 1 year old. This research will serve as a base for future studies of gut microbiota-related disease research. PMID:27583441

  2. Evidence for nonadditive genetic effects on Eysenck Personality Scales in South Korean twins.

    PubMed

    Hur, Yoon-Mi

    2007-04-01

    While evidence supporting for nonadditive genetic influences on personality traits in Caucasian populations has been growing in recent years, twin studies that explored the existence of genetic nonadditivity in personality variation in Asian populations are still lacking. Seven hundred and sixty-five pairs of adolescent and young adult twins registered with the South Korean Twin Registry completed the 7 scales of the Eysenck Personality Scales through a mail survey. Maximum likelihood twin correlations were computed and model-fitting analyses were conducted. Monozygotic twin correlations were consistently higher than twice the dizygotic twin correlations for all 7 scales, suggesting pervasive influences of nonadditive genetic effects on personality traits in the South Korean population. Model-fitting analyses indicated that genetic nonadditivity is particularly important for the variation of Impulsivity, Venturesomeness, Empathy, Lie, and Psychoticism. According to the best fitting models, nonadditive genetic effects ranged from 34 to 49% for these scales. For Neuroticism and Extraversion, models that included an additive genetic component fit better than those including a nonadditive genetic variance component.

  3. Autism spectrum disorders and coexisting disorders in a nationwide Swedish twin study.

    PubMed

    Lundström, Sebastian; Reichenberg, Abraham; Melke, Jonas; Råstam, Maria; Kerekes, Nóra; Lichtenstein, Paul; Gillberg, Christopher; Anckarsäter, Henrik

    2015-06-01

    Evidence from twin and molecular genetic studies is accumulating that Autism Spectrum Disorder (ASD) shares substantial etiological factors with other disorders. This is mirrored in clinical practice where ASD without coexisting disorders is rare. The present study aims to examine the range of coexisting disorders in ASD in a genetically informative cohort. Parents of all Swedish 9-year-old twins born between 1992 and 2001 (n = 19,130) underwent a telephone interview designed to screen for child psychiatric disorders, including ASD. To ensure full coverage of child psychiatric disorders, data were also retrieved from population-based health registers. We investigated the coexistence of eight psychiatric disorders known to coexist with ASDs in probands and their co-twins. Half of the individuals with ASDs (50.3%) had four or more coexisting disorders and only 4% did not have any concomitant disorder. The 'healthy co-twin' in ASD discordant monozygotic twin pairs was very often (79% of boys and 50% of girls) affected by at least one non-ASD disorder. The corresponding figures for ASD discordant dizygotic twin pairs were significantly lower (46% of males and 30% of females). Detailed phenotypic descriptions including symptoms of problems associated with a wide range of child psychiatric disorders may aid in unraveling the genetic architecture of ASD and should guide the development of intervention strategies addressing each problem type specifically. © 2014 Association for Child and Adolescent Mental Health.

  4. Are there genetic influences on addiction: evidence from family, adoption and twin studies.

    PubMed

    Agrawal, Arpana; Lynskey, Michael T

    2008-07-01

    In this exciting era of gene discovery, we review evidence from family, adoption and twin studies that examine the genetic basis for addiction. With a focus on the classical twin design that utilizes data on monozygotic and dizygotic twins, we discuss support in favor of heritable influences on alcohol, nicotine, cannabis and other illicit drug dependence. We review whether these genetic factors also influence earlier stages (e.g. experimentation) of the addictive process and whether there are genetic influences specific to each psychoactive substance. Converging evidence from these studies supports the role of moderate to high genetic influences on addiction with estimates ranging from 0.30 to 0.70. The changing role of these heritable factors as a function of gender, age and cultural characteristics is also discussed. We highlight the importance of the interplay between genes and the environment as it relates to risk for addiction and the utility of the children-of-twins design for emerging studies of gene-environment interaction is presented. Despite the advances being made by low-cost high-throughput whole genome association assays, we posit that information garnered from twin studies, especially extended twin designs with power to examine gene-environment interactions, will continue to form the foundation for genomic research.

  5. Attitudes towards human reproductive cloning, assisted reproduction and gene selection: a survey of 4600 British twins.

    PubMed

    Prainsack, B; Cherkas, L F; Spector, T D

    2007-08-01

    Surveys have shown opposition to human reproductive cloning (HRC) in many countries. Views of identical (monozygotic, MZ) twins are of particular interest, as they naturally share 100% of their genes. We investigated attitudes of British twins towards HRC in the context of assisted reproduction technologies (ART) and gene selection. About 4651 identical and non-identical (dizygotic, DZ) twins expressed their degree of agreement or disagreement to nine statements relating to ART, gene selection and HRC in a self-completion questionnaire. Most subjects (70% and 78% respectively) did not regard the use of medical technologies to treat infertility as interfering with either nature or God's will, despite believing that infertility is not a disease (54%). Attitudes to gene selection and HRC were context dependent, with more favourable views towards preventing serious diseases than towards enhancing traits. About 44% supported a permanent ban of HRC. MZ twins were significantly more likely to agree that HRC should be allowed for medical purposes, such as saving a sibling's life, than were DZ twins. Increasing religiosity generally correlated with more negative attitudes. Many attitudes are context dependent. More positive views of MZ twins towards HRC could be linked to their experience with being genetically identical.

  6. Epidemiology and genetics of hypodontia and microdontia: a study of twin families.

    PubMed

    Jeong, Kwang Ho; Kim, Daeeun; Song, Yun-Mi; Sung, Joohon; Kim, Young Ho

    2015-11-01

    To identify genetic and environmental factors contributing to hypodontia and microdontia by using Korean twin family data. A total of 1267 individuals (525 men and 742 women; 180 monozygotic twins [MZ] and 43 dizygotic twins [DZ] from 282 families) underwent an oral examination as part of the Healthy Twin Study in Korea. Dental anomalies classified as hypodontia or microdontia were diagnosed using radiographs and clinical examinations. In order to estimate genetic contributions to dental anomalies, we estimated the pairwise concordance rate (PCR), recurrence risk ratio (RRR), and heritability (h2). The prevalence of hypodontia and microdontia was 3.55% and 3.00%, respectively. MZ had the highest PCR and RRR (13.0-15.3). The PCR and RRR values for both anomalies were much higher for DZ (5.0-11.9) than for siblings (1.4-2.6), despite the fact that DZ pairs and sibling pairs share 50% genetic identity. Further genetic analysis revealed both an additive genetic effect (0.38 when hypodontia and microdontia were pooled) and a strong "twin effect" (0.52 when hypodontia and microdontia were pooled). This twin-based study revealed that the formation of dental anomalies is affected by both genetic and environmental factors, and that the impact of these factors varies according to the specific dental anomaly.

  7. Self-reported psychological demands, skill discretion and decision authority at work: A twin study.

    PubMed

    Theorell, Töres; De Manzano, Örjan; Lennartsson, Anna-Karin; Pedersen, Nancy L; Ullén, Fredrik

    2016-06-01

    To examine the contribution of genetic factors to self-reported psychological demands (PD), skill discretion (SD) and decision authority (DA) and the possible importance of such influence on the association between these work variables and depressive symptoms. 11,543 participants aged 27-54 in the Swedish Twin Registry participated in a web survey. First of all, in multiple regressions, phenotypic associations between each one of the three work environment variables and depressive symptoms were analysed. Secondly, by means of classical twin analysis, the genetic contribution to PD, SD and DA was assessed. After this, cross-twin cross-trait correlations were computed between PD, SD and DA, on the one hand, and depressive symptom score, on the other hand. The genetic contribution to self-reported PD, DS and DA ranged from 18% for decision authority to 30% for skill discretion. Cross-twin cross-trait correlations were very weak (r values < .1) and non-significant for dizygotic twins, and we lacked power to analyse the genetic architecture of the phenotypic associations using bivariate twin modelling. However, substantial genetic contribution to these associations seems unlikely. CONCLUSIONS GENETIC CONTRIBUTIONS TO THE SELF-REPORTED WORK ENVIRONMENT SCORES WERE 18-30%. © 2016 the Nordic Societies of Public Health.

  8. Physical activity attenuates genetic effects on BMI: Results from a study of Chinese adult twins.

    PubMed

    Wang, Biqi; Gao, Wenjing; Lv, Jun; Yu, Canqing; Wang, Shengfeng; Pang, Zengchang; Cong, Liming; Dong, Zhong; Wu, Fan; Wang, Hua; Wu, Xianping; Jiang, Guohong; Wang, Xiaojie; Wang, Binyou; Cao, Weihua; Li, Liming

    2016-03-01

    This study aimed to examine the gene-environment interaction of physical activity and body mass index (BMI) using the Chinese National Twin Registry (CNTR). A total of 19,308 same-sex adult twins from CNTR were included in the analysis. Twin zygosity was determined by self-reported questionnaire. Height and weight were measured using self-reported questionnaire. The vigorous physical activity was defined as greater or equal to five times a week of at least 30 min moderate- or high-intensity physical activity. A twin structural equation model was used to analyze the gene-environment interaction of vigorous exercise with BMI among 13,506 monozygotic twins and 5,802 dizygotic twins. A structural equation model adjusting for age and sex found vigorous exercise significantly moderated the additive genetic effects (P < 0.001) and shared environmental effects (P < 0.001) on BMI. The genetic contributions to BMI were significantly lower for people who adopted a physically active lifestyle [h(2) = 40%, 95% confidence interval (CI): 35%-46%] than those who were relative sedentary (h(2) = 59%, 95% CI: 52%-66%). The observed gene-physical activity interaction was more pronounced in men than women. Our results suggested that adopting a physically active lifestyle may help to reduce the genetic influence on BMI among the Chinese population. © 2016 The Obesity Society.

  9. Twins as a tool for evaluating the influence of genetic susceptibility in thyroid autoimmunity.

    PubMed

    Brix, T H; Hegedüs, L

    2011-04-01

    By means of large twin cohorts, it has been possible to provide relatively valid and unbiased data regarding the influence of genetic and to some extent epigenetic factors in the aetiology of thyroid autoimmunity. The comparison of concordance rates between monozygotic and dizygotic twins provides irrefutable evidence of a genetic component in the aetiology of both Graves' disease and Hashimoto's thyroiditis, as well as for harbouring thyroid autoantibodies. Biometric modelling shows that approximately 75% of the total phenotypic variance in autoimmune thyroid disease is due to genetic effects. Despite the well known gender difference in the prevalence of autoimmune thyroid disease, the analyzes suggest that it is the same set of genes that operate in males and females. The lack of complete phenotypic concordance in monozygotic twin pairs indicates that also environmental and/or epigenetic factors are of importance. The impact of specific environmental and epigenetic exposures can be evaluated by investigating disease discordant twin pairs. Our studies show that skewed X chromosome inactivation is associated with clinically overt AITD but not with the presence of TPOAb in euthyroid individuals. It is now recognized that twin studies offer several features that uniquely enhance our ability to localize genes and understand their function. Future twin studies will incorporate information on genetic and epigenetic variation making it possible to quantify the precise effect of specific susceptibility genes and/or epigenetic variation on estimates of heritability. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  10. Excess Mortality in Patients Diagnosed With Hypothyroidism: A Nationwide Cohort Study of Singletons and Twins

    PubMed Central

    Thvilum, Marianne; Brandt, Frans; Almind, Dorthe; Christensen, Kaare; Brix, Thomas Heiberg

    2013-01-01

    Background: Although hypothyroidism is associated with increased morbidity, an association with increased mortality is still debated. Our objective was to investigate, at a nationwide level, whether a diagnosis of hypothyroidism influences mortality. Methods: In an observational cohort study from January 1, 1978 until December 31, 2008 using record-linkage data from nationwide Danish health registers, 3587 singletons and 682 twins diagnosed with hypothyroidism were identified. Hypothyroid individuals were matched 1:4 with nonhypothyroid controls with respect to age and gender and followed over a mean period of 5.6 years (range 0–30 years). The hazard ratio (HR) for mortality was calculated using Cox regression analyses. Comorbidity was evaluated using the Charlson score (CS). Results: In singletons with hypothyroidism, the mortality risk was increased (HR 1.52; 95% confidence interval [CI]: 1.41–1.65). Although the effect attenuated, hypothyroidism remained associated with increased mortality when evaluating subjects with a CS = 0 (HR 1.23; 95% CI: 1.05–1.44). In twin pairs discordant for hypothyroidism, the hypothyroid twin had excess mortality compared with the corresponding euthyroid cotwin (HR 1.40; 95% CI 0.95–2.05). However, after stratifying for zygosity, hypothyroidism was associated with excess mortality in dizygotic twin pairs (HR 1.61; 95% CI 1.00–2.58), whereas the association attenuated in monozygotic pairs (HR 1.06; 95% CI 0.55–2.05). Conclusions: Hypothyroidism is associated with an excess mortality of around 50%, which to some degree is explained by comorbidity. In addition, the finding of an association between hypothyroidism and mortality within disease discordant dizygotic but not monozygotic twin pairs indicates that the association between hypothyroidism and mortality is also influenced by genetic confounding. PMID:23365121

  11. Effect of birth parameters on retinal vascular caliber: the Twins Eye Study in Tasmania.

    PubMed

    Sun, Cong; Ponsonby, Anne-Louise; Wong, Tien Y; Brown, Shayne A; Kearns, Lisa S; Cochrane, Jenny; MacKinnon, Jane R; Ruddle, Jonathan B; Hewitt, Alex W; Liew, Gerald; Dwyer, Terence; Scurrah, Katrina; Mackey, David A

    2009-03-01

    Recent studies reported an association between smaller birth size and narrower retinal vascular caliber, but it remains unclear whether this association is attributed to confounding by shared environment or genetic factors. At a mean age of 9.3 years, 266 twins (49 monozygotic and 84 dizygotic pairs) in the Twins Eye Study in Tasmania underwent an ophthalmic examination including retinal photography. Retinal vascular caliber was measured using a validated protocol. The majority of these twins were also in the Tasmanian Infant Health Study, which prospectively collected data on birth parameters and antenatal maternal factors. We conducted the main analysis using linear mixed models, accounting for birth set clustering. Both the within-pair (-9.73; 95% CI: -14.68 to -4.77 microm per 5-cm decrease in birth length) and between-pair associations (-7.15; 95% CI: -11.54 to -3.01) with retinal arteriolar caliber were significant and of similar magnitude (difference in effect, P=0.61), after adjusting for age, sex, maternal smoking, mean arterial blood pressure, and other confounders. These associations remained within dizygotic and monozygotic pairs. Analyses of head circumference and retinal arteriolar caliber were similar to those of birth length (within-pair regression coefficient: -2.41; 95% CI: -5.09 to 0.28; between-pair regression coefficient: -2.60; 95% CI: -5.00 to -0.19). For birth weight, only a between-pair association was evident (-7.28; 95% CI: -13.07 to -1.48). This study demonstrates a consistent association between smaller birth size and narrower retinal arterioles in twins. The independent effect of shorter birth length on retinal arteriolar caliber supports a role for twin-specific supply line factors affecting fetal growth on vascular structure.

  12. Substantial Genetic Overlap between Schizotypy and Neuroticism: A Twin Study

    PubMed Central

    Macare, Christine; Bates, Timothy C.; Heath, Andrew C.; Martin, Nicholas G.; Ettinger, Ulrich

    2013-01-01

    Schizotypy is phenotypically associated with neuroticism. To reveal the origin of this association, we assessed 3349 (1449 monozygotic (MZ), 1105 dizygotic (DZ) same-sex and 795 DZ opposite-sex) twins on a 12-item version of Chapman’s Psychosis-Proneness Scales and the short-form of the Eysenck Personality Questionnaire-Revised as measures of schizotypy and neuroticism. A substantial proportion (.51 with 95% CI from .38 to .64) of the phenotypic correlation of .37 between neuroticism and the perceptual and ideational components of schizotypy was accounted for by shared genetic influences on these two traits. Moreover, a Cholesky decomposition including anhedonia, hypomania and impulsivity fully accounted for the heritable variance in perceptual and ideational components of schizotypy. These findings suggest a shared genetic etiology between neuroticism and perceptual and ideational components of schizotypy and affect future investigations on the etiology of these phenotypically overlapping traits and affective and psychotic disorders. PMID:22955548

  13. Discordant Growth of Monozygotic Twins Starts at the Blastocyst Stage: A Case Study

    PubMed Central

    Noli, Laila; Capalbo, Antonio; Ogilvie, Caroline; Khalaf, Yacoub; Ilic, Dusko

    2015-01-01

    Summary Discordant growth is a common complication of monochorionic/diamniotic pregnancies; in approximately 50% of cases, the cause is unknown. The case presented here suggests that discordant growth of monozygotic twins could start during preimplantation development. Two inner cell masses (ICMs) within the same blastocyst may originate in uneven splitting of a single “parental” ICM, or the two ICMs may be formed independently de novo. We studied the transcriptomes of two morphologically distinct ICMs within a single blastocyst using high-resolution RNA sequencing. The data indicated that the two ICM were at different stages of development; one was in the earliest stages of lineage commitment, while the other had already differentiated into epiblast and primitive endoderm. IGF1-mediated signaling is likely to play a key role in ICM growth and to be the major driver behind these differences. PMID:26584541

  14. Subjective wellbeing and longevity: a co-twin control study.

    PubMed

    Sadler, Michael E; Miller, Christopher J; Christensen, Kaare; McGue, Matt

    2011-06-01

    Mental health is increasingly defined not only by the absence of illness but by the presence of subjective well-being (SWB). Previous cohort studies have consistently shown that indicators of SWB predict favorable life outcomes, including better mental and somatic health, and longevity. The favorable effects associated with SWB have prompted new research aimed at raising happiness and wellbeing through individual interventions and public health initiatives. Standard observational studies of individual-level associations, however, are subject to potential confounding of exposure and outcome by shared genes and environment. The present study explored the association between SWB and increased longevity, using twin pair analyses to determine whether the association is consistent with causality or is due to genetic or environmental confounding. The study sample of 3,966 twins aged 70 or older, followed for a median time period of 9 years, was drawn from the population-based Longitudinal Study of Aging Danish Twins (LSADT). The association between SWB, operationalized as affect and life satisfaction, and all-cause mortality risk was examined using between-individual and within-pair survival analyses. As expected, at the individual level, SWB predicted increased longevity. Exposure effects were also present in unadjusted and adjusted within-pair analyses of 400 dizygotic (DZ) pairs and 274 monozygotic (MZ) pairs, indicating that SWB is associated with increased longevity independent of familial factors of genes and shared environment.

  15. Factors affecting pupil size after dilatation: the Twin Eye Study

    PubMed Central

    Hammond, C.; Snieder, H.; Spector, T.; Gilbert, C.

    2000-01-01

    BACKGROUND/AIMS—Well dilated pupils make eye surgery easier. A classic twin study was established to examine the relative importance of genes and environment in the variance of pupil size after mydriasis, and to examine the effects of other factors such as age, iris colour, and refractive error.
METHODS—506 twin pairs, 226 monozygotic (MZ) and 280 dizygotic (DZ), aged 49-79 (mean age 62.2 years, SD 5.7) were examined. Dilated pupil size was measured using a standardised grid superimposed over digital retroillumination images taken 50-70 minutes after mydriasis using tropicamide 1% and phenylephrine 10%. Univariate maximum likelihood model fitting was used to estimate genetic and environmental variance components.
RESULTS—Dilated pupil size was more highly correlated in MZ compared with DZ twins (intraclass correlation coefficients 0.82 and 0.39 respectively). A model specifying additive genetic and unique environmental factors showed the best fit to the data, yielding a heritability of 78-80%. Individual environmental factors explained 18-19% of the variance in this population. Age only accounted for 2-3% of the variance and refractive error and iris colour did not significantly contribute to the variance.
CONCLUSIONS—Pupil size after mydriasis is largely genetically determined, with a heritability of up to 80%.

 PMID:11004106

  16. Factors affecting pupil size after dilatation: the Twin Eye Study.

    PubMed

    Hammond, C J; Snieder, H; Spector, T D; Gilbert, C E

    2000-10-01

    Well dilated pupils make eye surgery easier. A classic twin study was established to examine the relative importance of genes and environment in the variance of pupil size after mydriasis, and to examine the effects of other factors such as age, iris colour, and refractive error. 506 twin pairs, 226 monozygotic (MZ) and 280 dizygotic (DZ), aged 49-79 (mean age 62.2 years, SD 5.7) were examined. Dilated pupil size was measured using a standardised grid superimposed over digital retroillumination images taken 50-70 minutes after mydriasis using tropicamide 1% and phenylephrine 10%. Univariate maximum likelihood model fitting was used to estimate genetic and environmental variance components. Dilated pupil size was more highly correlated in MZ compared with DZ twins (intraclass correlation coefficients 0.82 and 0.39 respectively). A model specifying additive genetic and unique environmental factors showed the best fit to the data, yielding a heritability of 78-80%. Individual environmental factors explained 18-19% of the variance in this population. Age only accounted for 2-3% of the variance and refractive error and iris colour did not significantly contribute to the variance. Pupil size after mydriasis is largely genetically determined, with a heritability of up to 80%.

  17. Preparing for Twins

    MedlinePlus

    ... come from the same egg, are always the same sex, and look very much alike. Fraternal twins come ... time. They may or may not be the same sex. Whether identical or fraternal, all twins have their ...

  18. A core gut microbiome in obese and lean twins

    PubMed Central

    Turnbaugh, Peter J.; Hamady, Micah; Yatsunenko, Tanya; Cantarel, Brandi L.; Duncan, Alexis; Ley, Ruth E.; Sogin, Mitchell L.; Jones, William J.; Roe, Bruce A.; Affourtit, Jason P.; Egholm, Michael; Henrissat, Bernard; Heath, Andrew C.; Knight, Rob; Gordon, Jeffrey I.

    2008-01-01

    The human distal gut harbors a vast ensemble of microbes (the microbiota) that provide us with important metabolic capabilities, including the ability to extract energy from otherwise indigestible dietary polysaccharides1–6. Studies of a small number of unrelated, healthy adults have revealed substantial diversity in their gut communities, as measured by sequencing 16S rRNA genes6–8, yet how this diversity relates to function and to the rest of the genes in the collective genomes of the microbiota (the gut microbiome) remains obscure. Studies of lean and obese mice suggest that the gut microbiota affects energy balance by influencing the efficiency of calorie harvest from the diet, and how this harvested energy is utilized and stored3–5. To address the question of how host genotype, environmental exposures, and host adiposity influence the gut microbiome, we have characterized the fecal microbial communities of adult female monozygotic and dizygotic twin pairs concordant for leanness or obesity, and their mothers. Analysis of 154 individuals yielded 9,920 near full-length and 1,937,461 partial bacterial 16S rRNA sequences, plus 2.14 gigabases from their microbiomes. The results reveal that the human gut microbiome is shared among family members, but that each person’s gut microbial community varies in the specific bacterial lineages present, with a comparable degree of co-variation between adult monozygotic and dizygotic twin pairs. However, there was a wide array of shared microbial genes among sampled individuals, comprising an extensive, identifiable ‘core microbiome’ at the gene, rather than at the organismal lineage level. Obesity is associated with phylum-level changes in the microbiota, reduced bacterial diversity, and altered representation of bacterial genes and metabolic pathways. These results demonstrate that a diversity of organismal assemblages can nonetheless yield a core microbiome at a functional level, and that deviations from this

  19. The TRAP (twin reversed arterial perfusion) sequence - case presentation.

    PubMed

    Mărginean, Claudiu; Mărginean, Maria Oana; Mureşan, Daniel; Zahiu, LuminiŢa; Horváth, Emőke

    2016-01-01

    We present a particular case of TRAP (twin reversed arterial perfusion) syndrome, which has a very rarely association of the simultaneous existence of a rudimentary malformed heart and brain, and also other malformations like abdominal wall abnormality, absent bladder with present kidneys, and absence of the lungs, which appear only in a few cases on the receptor twin from this sequence, malformations incompatible with life. A Caucasian 26-year-old pregnant woman, at the first pregnancy, with a monochorionic-diamniotic pregnancy, 26 weeks of gestation was referred to our hospital, for polyhydramnios. The patient delivered a living female newborn, weighing 950 g, with an Apgar score of 2 at one minute - the donor fetus and a second female newborn with multiple malformations, no signs of life and who weighed 2300 g - the receptor fetus. The anatomopathological examination confirmed the TRAP sequence associated with severe facial dysmorphism, bilateral phocomelia and cardiac malformations (rudimentary hypoplastic, univentricular) and a vascular anastomosis between the two umbilical cords. Anemia and cardiac complications which can lead to cardiac failure, appear early during pregnancy and caused the death of the pumping twin. We emphasize that in our case of TRAP sequence, the ultrasound examination established the diagnosis of the syndrome with high accuracy. Therefore, we can conclude that the existence of a rudimentary heart and a vascular anastomosis between the two umbilical cords supports the apparition of TRAP sequence. The early diagnosis of this pathology, the observation of the pregnancy with the help of weekly ultrasounds and the intrauterine interventions can increase the survival chances of the donor fetus from the TRAP sequence.

  20. Twin and family studies reveal strong environmental and weaker genetic cues explaining heritability of eosinophilic esophagitis.

    PubMed

    Alexander, Eileen S; Martin, Lisa J; Collins, Margaret H; Kottyan, Leah C; Sucharew, Heidi; He, Hua; Mukkada, Vincent A; Succop, Paul A; Abonia, J Pablo; Foote, Heather; Eby, Michael D; Grotjan, Tommie M; Greenler, Alexandria J; Dellon, Evan S; Demain, Jeffrey G; Furuta, Glenn T; Gurian, Larry E; Harley, John B; Hopp, Russell J; Kagalwalla, Amir; Kaul, Ajay; Nadeau, Kari C; Noel, Richard J; Putnam, Philip E; von Tiehl, Karl F; Rothenberg, Marc E

    2014-11-01

    Eosinophilic esophagitis (EoE) is a chronic antigen-driven allergic inflammatory disease, likely involving the interplay of genetic and environmental factors, yet their respective contributions to heritability are unknown. To quantify the risk associated with genes and environment on familial clustering of EoE. Family history was obtained from a hospital-based cohort of 914 EoE probands (n = 2192 first-degree "Nuclear-Family" relatives) and an international registry of monozygotic and dizygotic twins/triplets (n = 63 EoE "Twins" probands). Frequencies, recurrence risk ratios (RRRs), heritability, and twin concordance were estimated. Environmental exposures were preliminarily examined. Analysis of the Nuclear-Family-based cohort revealed that the rate of EoE, in first-degree relatives of a proband, was 1.8% (unadjusted) and 2.3% (sex-adjusted). RRRs ranged from 10 to 64, depending on the family relationship, and were higher in brothers (64.0; P = .04), fathers (42.9; P = .004), and males (50.7; P < .001) than in sisters, mothers, and females, respectively. The risk of EoE for other siblings was 2.4%. In the Nuclear-Family cohort, combined gene and common environment heritability was 72.0% ± 2.7% (P < .001). In the Twins cohort, genetic heritability was 14.5% ± 4.0% (P < .001), and common family environment contributed 81.0% ± 4% (P < .001) to phenotypic variance. Probandwise concordance in monozygotic co-twins was 57.9% ± 9.5% compared with 36.4% ± 9.3% in dizygotic co-twins (P = .11). Greater birth weight difference between twins (P = .01), breast-feeding (P = .15), and fall birth season (P = .02) were associated with twin discordance in disease status. EoE RRRs are increased 10- to 64-fold compared with the general population. EoE in relatives is 1.8% to 2.4%, depending on relationship and sex. Nuclear-Family heritability appeared to be high (72.0%). However, the Twins cohort analysis revealed a powerful role for common environment (81.0%) compared with

  1. Abdominal obesity and circulating metabolites: A twin study approach.

    PubMed

    Bogl, Leonie H; Kaye, Sanna M; Rämö, Joel T; Kangas, Antti J; Soininen, Pasi; Hakkarainen, Antti; Lundbom, Jesper; Lundbom, Nina; Ortega-Alonso, Alfredo; Rissanen, Aila; Ala-Korpela, Mika; Kaprio, Jaakko; Pietiläinen, Kirsi H

    2016-03-01

    To investigate how obesity, insulin resistance and low-grade inflammation link to circulating metabolites, and whether the connections are due to genetic or environmental factors. Circulating serum metabolites were determined by proton NMR spectroscopy. Data from 1368 (531 monozygotic (MZ) and 837 dizygotic (DZ)) twins were used for bivariate twin modeling to derive the genetic (rg) and environmental (re) correlations between waist circumference (WC) and serum metabolites. Detailed examination of the associations between fat distribution (DEXA) and metabolic health (HOMA-IR, CRP) was performed among 286 twins including 33 BMI-discordant MZ pairs (intrapair BMI difference ≥3 kg/m(2)). Fat, especially in the abdominal area (i.e. WC, android fat % and android to gynoid fat ratio), together with HOMA-IR and CRP correlated significantly with an atherogenic lipoprotein profile, higher levels of branched-chain (BCAA) and aromatic amino acids, higher levels of glycoprotein, and a more saturated fatty acid profile. In contrast, a higher proportion of gynoid to total fat associated with a favorable metabolite profile. There was a significant genetic overlap between WC and several metabolites, most strongly with phenylalanine (rg=0.40), glycoprotein (rg=0.37), serum triglycerides (rg=0.36), BCAAs (rg=0.30-0.40), HDL particle diameter (rg=-0.33) and HDL cholesterol (rg=-0.30). The effect of acquired obesity within the discordant MZ pairs was particularly strong for atherogenic lipoproteins. A wide range of unfavorable alterations in the serum metabolome was associated with abdominal obesity, insulin resistance and low-grade inflammation. Twin modeling and obesity-discordant twin analysis suggest that these associations are partly explained by shared genes but also reflect mechanisms independent of genetic liability. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Heritability of refractive astigmatism: a population-based twin study among 63- to 75-year-old female twins.

    PubMed

    Pärssinen, Olavi; Kauppinen, Markku; Kaprio, Jaakko; Koskenvuo, Markku; Rantanen, Taina

    2013-09-09

    To examine the heritability of refractive astigmatism in older women. Astigmatism was measured with an autorefractor in 88 monozygotic and 82 dizygotic female twin pairs aged 63 to 75 years. The prevalence and distribution of astigmatism and polar values J0 and J45 were estimated by standard statistical methods. Bivariate maximum likelihood model fitting was used to estimate genetic and environmental variance components using information from both eyes. Mean astigmatism of the more astigmatic eye was 0.93 diopters (D; SD ±0.58). Astigmatism of at least 0.25 D, 0.5 D, 0.75 D, or 1.0 D in either eye was present in 99.7%, 88.5%, 66.5%, and 46.2% of cases, respectively. The main direction of astigmatism was against the rule. The age-adjusted quantitative genetic modeling revealed that additive genetic effects accounted for 33.3% (95% confidence interval [CI], 21.9%-43.8%) of the total variance of astigmatism and for 18% (95% CI, 4%-31%) of the total variance of polar value J45 of both eyes (bivariate model), with the remaining variances due to nongenetic effects. There were no significant correlations between the twin pairs for polar value J0. In elderly female twins, additive genetic effects accounted for one-third of the variance of the amount of astigmatism and only a small fraction of the total variance of polar value J45.

  3. Comparison of Solomon technique with selective laser ablation for twin-twin transfusion syndrome: a systematic review.

    PubMed

    Dhillon, R K; Hillman, S C; Pounds, R; Morris, R K; Kilby, M D

    2015-11-01

    To compare the Solomon and selective techniques for fetoscopic laser ablation (FLA) for the treatment of twin-twin transfusion syndrome (TTTS) in monochorionic-diamniotic twin pregnancies. This was a systematic review conducted in accordance with the PRISMA statement. Electronic searches were performed for relevant citations published from inception to September 2014. Selected studies included pregnancies undergoing FLA for TTTS that reported on recurrence of TTTS, occurrence of twin anemia-polycythemia sequence (TAPS) or survival. From 270 possible citations, three studies were included, two cohort studies and one randomized controlled trial (RCT), which directly compared the Solomon and selective techniques for FLA. The odds ratios (OR) of recurrent TTTS when using the Solomon vs the selective technique in the two cohort studies (n = 249) were 0.30 (95% CI, 0.00-4.46) and 0.45 (95% CI, 0.07-2.20). The RCT (n = 274) demonstrated a statistically significant reduction in risk of recurrent TTTS with the Solomon technique (OR, 0.21 (95% CI, 0.04-0.98); P = 0.03). The ORs for the development of TAPS following the Solomon and the selective techniques were 0.20 (95% CI, 0.00-2.46) and 0.61 (95% CI, 0.05-5.53) in the cohort studies and 0.16 (95% CI, 0.05-0.49) in the RCT, with statistically significant differences for the RCT only (P < 0.001). Observational evidence suggested overall better survival with the Solomon technique, which was statistically significant for survival of at least one twin. The RCT did not demonstrate a significant difference in survival between the two techniques, most probably owing to the small sample size and lack of power. This systematic review of observational, comparative cohort and RCT data suggests a trend towards a reduction in TAPS and recurrent TTTS and an increase in twin survival, with no increase in the occurrence of complications or adverse events, when using the Solomon compared to the selective technique for the treatment of TTTS

  4. Zygosity Differences in Height and Body Mass Index of Twins From Infancy to Old Age: A Study of the CODATwins Project.

    PubMed

    Jelenkovic, Aline; Yokoyama, Yoshie; Sund, Reijo; Honda, Chika; Bogl, Leonie H; Aaltonen, Sari; Ji, Fuling; Ning, Feng; Pang, Zengchang; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Burt, S Alexandra; Klump, Kelly L; Medland, Sarah E; Montgomery, Grant W; Kandler, Christian; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Saudino, Kimberly J; Dubois, Lise; Boivin, Michel; Tarnoki, Adam D; Tarnoki, David L; Haworth, Claire M A; Plomin, Robert; Öncel, Sevgi Y; Aliev, Fazil; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Craig, Jeffrey M; Saffery, Richard; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Rijsdijk, Fruhling; Spector, Timothy; Mangino, Massimo; Lachance, Genevieve; Gatz, Margaret; Butler, David A; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Freitas, Duarte L; Maia, José Antonio; Harden, K Paige; Tucker-Drob, Elliot M; Kim, Bia; Chong, Youngsook; Hong, Changhee; Shin, Hyun Jung; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth J F; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; He, Mingguang; Ding, Xiaohu; Chang, Billy; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Aujard, Kelly; Magnusson, Patrik K E; Pedersen, Nancy L; Aslan, Anna K Dahl; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Baker, Laura A; Tuvblad, Catherine; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Heikkilä, Kauko; Tan, Qihua; Zhang, Dongfeng; Swan, Gary E; Krasnow, Ruth; Jang, Kerry L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Lichtenstein, Paul; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Tynelius, Per; Duncan, Glen E; Buchwald, Dedra; Corley, Robin P; Huibregtse, Brooke M; Nelson, Tracy L; Whitfield, Keith E; Franz, Carol E; Kremen, William S; Lyons, Michael J; Ooki, Syuichi; Brandt, Ingunn; Nilsen, Thomas Sevenius; Inui, Fujio; Watanabe, Mikio; Bartels, Meike; van Beijsterveldt, Toos C E M; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; Rebato, Esther; Martin, Nicholas G; Iwatani, Yoshinori; Hayakawa, Kazuo; Sung, Joohon; Harris, Jennifer R; Willemsen, Gonneke; Busjahn, Andreas; Goldberg, Jack H; Rasmussen, Finn; Hur, Yoon-Mi; Boomsma, Dorret I; Sørensen, Thorkild I A; Kaprio, Jaakko; Silventoinen, Karri

    2015-10-01

    A trend toward greater body size in dizygotic (DZ) than in monozygotic (MZ) twins has been suggested by some but not all studies, and this difference may also vary by age. We analyzed zygosity differences in mean values and variances of height and body mass index (BMI) among male and female twins from infancy to old age. Data were derived from an international database of 54 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins), and included 842,951 height and BMI measurements from twins aged 1 to 102 years. The results showed that DZ twins were consistently taller than MZ twins, with differences of up to 2.0 cm in childhood and adolescence and up to 0.9 cm in adulthood. Similarly, a greater mean BMI of up to 0.3 kg/m2 in childhood and adolescence and up to 0.2 kg/m2 in adulthood was observed in DZ twins, although the pattern was less consistent. DZ twins presented up to 1.7% greater height and 1.9% greater BMI than MZ twins; these percentage differences were largest in middle and late childhood and decreased with age in both sexes. The variance of height was similar in MZ and DZ twins at most ages. In contrast, the variance of BMI was significantly higher in DZ than in MZ twins, particularly in childhood. In conclusion, DZ twins were generally taller and had greater BMI than MZ twins, but the differences decreased with age in both sexes.

  5. Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics.

    PubMed

    Cardno, A G; Gottesman, I I

    2000-01-01

    Twin studies have been vital for establishing an important genetic contribution to the etiology of schizophrenia. The five newest studies since 1995 from Europe and Japan have confirmed earlier findings. They yielded probandwise concordance rates of 41-65% in monozygotic (MZ) pairs and 0-28% in dizygotic (DZ) pairs, and heritability estimates of approximately 80-85%. Twin studies are also valuable for investigating the etiological relationships between schizophrenia and other disorders, and the genetic basis of clinical heterogeneity within schizophrenia. Studies of discordant MZ pairs provide further insights into non-inherited factors that contribute to the multifactorial etiology of this disorder. More recently, twin studies have begun to be used to directly investigate molecular genetic and epigenetic processes underlying schizophrenia.

  6. A twin study of hyperactivity--II. The aetiological role of genes, family relationships and perinatal adversity.

    PubMed

    Goodman, R; Stevenson, J

    1989-09-01

    In a large representative sample of 13-year-old twins, monozygotic pairs were more alike than same-sex dizygotic pairs on objective measures of attentiveness and on parent and teacher ratings of hyperactivity. Comparison of recognized and unrecognized monozygotic pairs indicated that parents and teachers rated twins more similarly when the twins were perceived as "identical" rather than "non-identical". After allowing for this stereotyping, genetic effects accounted for approximately half of the explainable variance of hyperactivity and inattentiveness. Data from mixed-sex pairs did not support a 2-threshold genetic explanation for the male excess of hyperactivity. The link between adverse family factors and hyperactivity was weak. Perinatal adversity was not related to later hyperactivity.

  7. A Chaotic Home Environment Accounts for the Association between Respect for Rules Disposition and Reading Comprehension: A Twin Study.

    PubMed

    Taylor, Jeanette; Hart, Sara A

    2014-10-01

    This study examined the association between socioemotional dispositions from the developmental propensity model and reading comprehension and whether those associations could be accounted for by level of chaos in the home. Data from 342 monozygotic and 333 same-sex dizygotic twin pairs age 7-13 years were used. A parent rated the twins on sympathy, respect for rules, negative emotionality, and daring and level of chaos in the twins' home. Reading comprehension was measured using a state-wide school assessment. Only respect for rules significantly and uniquely predicted reading comprehension. Biometric models indicated that respect for rules was positively associated with reading comprehension via the shared environment and home chaos accounted for a significant amount of that shared environmental variance even after controlling for family income. Children with higher respect for rules have better reading comprehension scores in school and this relationship owes partly to the level of chaos in the family home.

  8. Heritability and familiality of neurological soft signs: evidence from healthy twins, patients with schizophrenia and non-psychotic first-degree relatives.

    PubMed

    Xu, T; Wang, Y; Li, Z; Huang, J; Lui, S S Y; Tan, S-P; Yu, X; Cheung, E F C; He, M-G; Ott, J; Gur, R E; Gur, R C; Chan, R C K

    2016-01-01

    Neurological soft signs (NSS) have long been considered potential endophenotypes for schizophrenia. However, few studies have investigated the heritability and familiality of NSS. The present study examined the heritability and familiality of NSS in healthy twins and patient-relative pairs. The abridged version of the Cambridge Neurological Inventory was administered to 267 pairs of monozygotic twins, 124 pairs of dizygotic twins, and 75 pairs of patients with schizophrenia and their non-psychotic first-degree relatives. NSS were found to have moderate but significant heritability in the healthy twin sample. Moreover, patients with schizophrenia correlated closely with their first-degree relatives on NSS. Taken together, the findings provide evidence on the heritability and familiality of NSS in the Han Chinese population.

  9. Genetic and environmental influences on the continuous scales of the Myers-Briggs Type Indicator: an analysis based on twins reared apart.

    PubMed

    Bouchard, T J; Hur, Y M

    1998-04-01

    The Myers-Briggs Type Indicator was administered to a sample of 61 monozygotic twins reared apart (MZA), 49 dizygotic twins reared apart (DZA), and 92 spouses, who participated in the Minnesota Study of Twins Reared Apart (MISTRA) from 1979 to 1995. Twins' scores on the continuous scales were subjected to behavior genetic model-fitting procedures. Extraversion-Introversion and Thinking-Feeling yielded heritabilities of about .60, consisting largely of nonadditive genetic variance. Sensing-Intuition and Judgment-Perception yielded heritabilities of about .40, consisting largely of additive genetic variance. Spouse correlations for three of the four scales were near zero and not statistically significant; one spouse correlation (Sensing-Intuition) was modestly positive and statistically significant.

  10. Hypothesis acardiac twin pregnancies: Pathophysiology-based hypotheses suggest risk prediction by pump/acardiac umbilical venous diameter ratios.

    PubMed

    van Gemert, Martin J C; Pistorius, Lourens R; Benirschke, Kurt; Bonsel, Gouke J; Vandenbussche, Frank P H A; Paarlberg, K Marieke; van den Wijngaard, Jeroen P H M; Nikkels, Peter G J

    2016-02-01

    A total of 75% of monozygotic twins share 1 monochorionic placenta where placental anastomoses cause several serious complications, for example, acardiac twinning. Acardiac twins lack cardiac function but grow by perfusion of arterial blood from the pump twin. This rare pregnancy has 50% natural pump twin mortality but accurate risk prediction is currently impossible. Recent guidelines suggest prophylactic surgery before 18 weeks, suggesting 50% unnecessary interventions. We hypothesize that (1) adverse pump twin outcome relates to easy-to-measure pump/acardiac umbilical venous diameter (UVD) ratios, representing acardiac perfusion by the pump's excess cardiac output. This hypothesis suggests that (2) UVD-ratios are large, mildly varying in cases without complications but small and decreasing when complications develop, thus predicting that (3) UVD-ratios may allow risk prediction of pump twins. In this exploratory clinical pilot, we tested whether UVD-ratio measurements support these predictions. We included 7 uncomplicated (expectant management), 3 elective surgical, and 17 complicated cases (pump decompensation, emergency intervention/delivery or demise). Nine UVD-ratios were measured sonographycally and 18 by pathology. Uncomplicated cases have larger, two serial measurements showing mildly varying UVD-ratios; elective surgical cases show larger UVD-ratios; complicated cases have smaller, two serial measurements showing decreasing UVD-ratios. There were no false-positives, no false-negatives and noncrossing linear trendlines of uncomplicated and complicated cohorts. Our data provide first evidence that UVD-ratios allow risk prediction of pump twins. More early uncomplicated and late complicated cases are needed, for example, in a prospective trial, before the separation between uncomplicated and complicated cohorts is accurate enough to support a well-founded decision on (early) intervention. © 2015 Wiley Periodicals, Inc.

  11. Genetic Factors Explain Variation in the Age at Onset of Psoriasis: A Population-based Twin Study.

    PubMed

    Lønnberg, Ann Sophie; Skov, Lone; Duffy, David Lorenzo; Skytthe, Axel; Kyvik, Kirsten Ohm; Pedersen, Ole Birger; Thomsen, Simon Francis

    2016-01-01

    The aim of this study was to determine the age at onset of psoriasis in a population-based twin sample. Questionnaire-data in 10,725 twin pairs, 20-71 years of age, from the Danish Twin Registry, was collected, and analysed using survival regression analysis. Median age at onset was 25 and 28 years among women and men, respectively. The correlation between the ages was 0.84 (bootstrap standard error?=?0.044) in monozygotic twin pairs and 0.60 (0.051) in dizygotic twin pairs, permutation p?=?0.001. Age at onset of psoriasis in the index twin did not predict risk of psoriasis in the co-twin, hazard ratio (per year of later onset =?1.01 (0.99-1.03), p?=?0.434. In conclusion, these data support that the age at onset of psoriasis is, in part, an inherited property. Our results do not support that early-onset psoriasis is more genetically determined.

  12. Sex differences in genetic and environmental influences on obsessive-compulsive symptoms in South Korean adolescent and young adult twins.

    PubMed

    Hur, Yoon-Mi; Jeong, Hoe-Uk

    2008-06-01

    Recent molecular genetic studies provide suggestive evidence for sexual dimorphism in genetics of obsessive-compulsive disorder. However, only a few twin studies have addressed the question of sex differences in genetic and environmental contributions to variation of obsessive-compulsive symptoms. The aim of the present study was to estimate genetic and environmental influences on obsessive-compulsive symptoms in South Korean twins, with a special emphasis on sex difference. In total, 751 adolescent and young adult twin pairs (ages: 13-23 years) completed a Korean version of the 30 items of the Maudsley Obsessional - Compulsive Inventory (MOCI) through a mail survey. A sum of the answers for the 30 items was calculated to represent a total score for obsessive-compulsive symptoms (hereafter, the MOCIT). Males had significantly higher variance of the MOCIT than did females. In males, monozygotic (MZ) twin correlation was significantly higher than dizygotic (DZ) twin correlations (.56 vs. .24), whereas in females, MZ and DZ twin correlations were not significantly different from each other (.39 vs. .36). The general sex-limitation model was applied to the twin data. The results of model-fitting analyses indicated that the unstandardized genetic variance as well as heritability estimate (53% vs. 41%) for the MOCIT was higher in males than in females. However, shared environmental influences did not attain statistical significance perhaps due to insufficient statistical power.

  13. Heritability of resting heart rate and association with mortality in middle-aged and elderly twins.

    PubMed

    Jensen, Magnus T; Wod, Mette; Galatius, Søren; Hjelmborg, Jacob B; Jensen, Gorm B; Christensen, Kaare

    2017-06-21

    Resting heart rate (RHR) possibly has a hereditary component and is associated with longevity. We used the classical biometric twin study design to investigate the heritability of RHR in a population of middle-aged and elderly twins and, furthermore, studied the association between RHR and mortality. In total, 4282 twins without cardiovascular disease were included from the Danish Twin Registry, hereof 1233 twin pairs and 1816 'single twins' (twins with a non-participating co-twin); mean age 61.7 (SD 11.1) years; 1334 (31.2%) twins died during median 16.3 (IQR 13.8-16.5) years of follow-up assessed through Danish national registers. RHR was assessed by palpating radial pulse. Within pair correlations for RHR adjusted for sex and age were 0.23 (95% CI 0.14 to 0.32) and 0.10 (0.03 to 0.17) for RHR in monozygotic (MZ) and dizygotic (DZ) twin pairs, respectively. Overall, heritability estimates were 0.23 (95% CI 0.15 to 0.30); 0.27 (0.15 to 0.38) for males and 0.17 (0.06 to 0.28) for females. In multivariable models adjusting for age, gender, body mass index, diabetes, hypertension, pulmonary function, smoking, physical activity and zygosity, RHR was significantly associated with mortality (eg, RHR >90 vs 61-70 beats per min: all-cause HR 1.56 (95% CI 1.21 to 2.03); cardiovascular 2.19 (1.30 to 3.67). Intrapair twin comparison revealed that the twin with the higher RHR was significantly more likely to die first and the probability increased with increase in intrapair difference in RHR. RHR is a trait with a genetic influence in middle-aged and elderly twins free of cardiovascular disease. RHR is independently associated with longevity even when familial factors are controlled for in a twin design. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  14. Asymmetric twin Dark Matter

    SciTech Connect

    Farina, Marco

    2015-11-09

    We study a natural implementation of Asymmetric Dark Matter in Twin Higgs models. The mirroring of the Standard Model strong sector suggests that a twin baryon with mass around 5 GeV is a natural Dark Matter candidate once a twin baryon number asymmetry comparable to the SM asymmetry is generated. We explore twin baryon Dark Matter in two different scenarios, one with minimal content in the twin sector and one with a complete copy of the SM, including a light twin photon. The essential requirements for successful thermal history are presented, and in doing so we address some of the cosmological issues common to many Twin Higgs models. The required interactions we introduce predict signatures at direct detection experiments and at the LHC.

  15. Asymmetric twin Dark Matter

    SciTech Connect

    Farina, Marco

    2015-11-01

    We study a natural implementation of Asymmetric Dark Matter in Twin Higgs models. The mirroring of the Standard Model strong sector suggests that a twin baryon with mass around 5 GeV is a natural Dark Matter candidate once a twin baryon number asymmetry comparable to the SM asymmetry is generated. We explore twin baryon Dark Matter in two different scenarios, one with minimal content in the twin sector and one with a complete copy of the SM, including a light twin photon. The essential requirements for successful thermal history are presented, and in doing so we address some of the cosmological issues common to many Twin Higgs models. The required interactions we introduce predict signatures at direct detection experiments and at the LHC.

  16. Genetic and environmental influence on DNA strand break repair: a twin study.

    PubMed

    Garm, Christian; Moreno-Villanueva, Maria; Bürkle, Alexander; Larsen, Lisbeth Aagaard; Bohr, Vilhelm A; Christensen, Kaare; Stevnsner, Tinna

    2013-07-01

    Accumulation of DNA damage deriving from exogenous and endogenous sources has significant consequences for cellular survival, and is implicated in aging, cancer, and neurological diseases. Different DNA repair pathways have evolved in order to maintain genomic stability. Genetic and environmental factors are likely to influence DNA repair capacity. In order to gain more insight into the genetic and environmental contribution to the molecular basis of DNA repair, we have performed a human twin study, where we focused on the consequences of some of the most abundant types of DNA damage (single-strand breaks), and some of the most hazardous lesions (DNA double-strand breaks). DNA damage signaling response (Gamma-H2AX signaling), relative amount of endogenous damage, and DNA-strand break repair capacities were studied in peripheral blood mononuclear cells from 198 twins (94 monozygotic and 104 dizygotic). We did not detect genetic effects on the DNA-strand break variables in our study.

  17. Longitudinal Associations Among Reading-Related Skills and Reading Comprehension: A Twin Study.

    PubMed

    Erbeli, Florina; Hart, Sara A; Taylor, Jeanette

    2017-06-01

    This study investigated the etiology of longitudinal relations among kindergarten prereading skills, first-grade word level reading skills, and seventh-grade reading comprehension in 265 monozygotic and 459 dizygotic twin pairs (Mage  = 6.29 years in kindergarten) from the Florida Twin Project on Reading. Using a quadvariate Cholesky decomposition, results showed genetic, shared, and nonshared environmental overlap among prereading skills, word level reading skills, and reading comprehension. In addition, genetic and shared environmental overlap was indicated among word level reading skills and reading comprehension, outside the influence of prereading skills. After accounting for overlapping, there remained moderate genetic and nonshared environmental influence specific to reading comprehension. Implications for reading education are discussed. © 2017 The Authors. Child Development © 2017 Society for Research in Child Development, Inc.

  18. Importance of genetic factors in the occurrence of epilepsy syndrome type: A twin study

    PubMed Central

    Corey, Linda A.; Pellock, John M.; Kjeldsen, Marianne J.; Nakken, Karl Otto

    2011-01-01

    Summary Although there is strong evidence that genetic factors contribute to risk for epilepsy, their role in the determination of syndrome type is less clear. This study was undertaken to address this question. Information related to epilepsy was obtained from twins included in 455 monozygotic and 868 dizygotic pairs ascertained from population-based twin registries in Denmark, Norway and the United States. Syndrome type was determined based on medical record information and detailed clinical interviews and classified using the International Classification Systems for the Epilepsies and Epileptic Syndromes. Concordance rates were significantly increased in monozygotic versus dizygotic pairs for all major syndrome groups except localization-related cryptogenic epilepsy. Among generalized epilepsies, genetic factors were found to play an important role in the determination of childhood absence, juvenile absence, juvenile myoclonic, and idiopathic generalized epilepsy; and to a lesser degree for epilepsies with grand mal seizures on awakening. Among localization-related epilepsies, genetic factors contributed to risk for localization-related idiopathic and symptomatic syndromes overall, but did not appear to play an important role in determining risk for frontal, occipital or temporal lobe epilepsy. These results suggest that, while genetic factors contribute to risk for major syndrome types, determined when possible, their contribution to risk for localization-related syndrome sub-types, as defined by specific focality, may be modest. PMID:21885256

  19. Shared genetic influences on ADHD symptoms and very low-frequency EEG activity: a twin study

    PubMed Central

    Tye, Charlotte; Rijsdijk, Frühling; Greven, Corina U.; Kuntsi, Jonna; Asherson, Philip; McLoughlin, Gráinne

    2013-01-01

    Background ADHD is a common and highly heritable neurodevelopmental disorder with a complex aetiology. The identification of candidate intermediate phenotypes that are both heritable and genetically linked to ADHD may facilitate the detection of susceptibility genes and elucidate aetiological pathways. Very low-frequency (VLF; <0.5Hz) electroencephalographic (EEG) activity represents a promising indicator of risk for ADHD, but it is currently unclear whether it is heritable or genetically linked to the disorder. Methods Direct-current (DC)-EEG was recorded during a cognitive activation condition in 30 monozygotic and dizygotic adolescent twin pairs concordant or discordant for high ADHD symptom scores, and 37 monozygotic and dizygotic matched-control twin pairs with low ADHD symptom scores. Structural equation modelling was used to quantify the genetic and environmental contributions to the phenotypic covariance between ADHD and VLF activity. Results ADHD was significantly associated with reduced VLF power during cognitive activation, which suggests reduced synchronisation of widespread neuronal activity. VLF power demonstrated modest heritability (0.31) and the genetic correlation (−0.80) indicated a substantial degree of overlap in genetic influences on ADHD and VLF activity. Conclusions Altered VLF activity is a potential candidate intermediate phenotype of ADHD, which warrants further investigation of underlying neurobiological and genetic mechanisms. PMID:22118296

  20. 149. TWIN FALLS MAIN CANAL DIVERSION, TWIN FALLS COUNTY, MILNER ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    149. TWIN FALLS MAIN CANAL DIVERSION, TWIN FALLS COUNTY, MILNER DAM; CLOSE-UP OF MAIN CANAL GATES, SOUTH VIEW. - Milner Dam & Main Canal: Twin Falls Canal Company, On Snake River, 11 miles West of city of Burley, Idaho, Twin Falls, Twin Falls County, ID

  1. 97. POINT SPILL, TWIN FALLS MAIN CANAL, TWIN FALLS COUNTY ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    97. POINT SPILL, TWIN FALLS MAIN CANAL, TWIN FALLS COUNTY NORTHWEST OF MURTAUGH, IDAHO; OVERALL WEST VIEW FROM CANAL SIDE. - Milner Dam & Main Canal: Twin Falls Canal Company, On Snake River, 11 miles West of city of Burley, Idaho, Twin Falls, Twin Falls County, ID

  2. 137. TWIN FALLS SOUTH SIDE MAIN CANAL DIVERSION HEADGATES, TWIN ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    137. TWIN FALLS SOUTH SIDE MAIN CANAL DIVERSION HEADGATES, TWIN FALLS COUNTY, MILNER, IDAHO; OVERALL VIEW OF MAIN HEADGATES, DAM IN BACKGROUND. - Milner Dam & Main Canal: Twin Falls Canal Company, On Snake River, 11 miles West of city of Burley, Idaho, Twin Falls, Twin Falls County, ID

  3. 147. TWIN FALLS MAIN CANAL DIVERSION, TWIN FALLS COUNTY, MILNER, ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    147. TWIN FALLS MAIN CANAL DIVERSION, TWIN FALLS COUNTY, MILNER, IDAHO; VIEW OF MAIN HEADGATES, EAST VIEW. - Milner Dam & Main Canal: Twin Falls Canal Company, On Snake River, 11 miles West of city of Burley, Idaho, Twin Falls, Twin Falls County, ID

  4. 148. TWIN FALLS MAIN CANAL DIVERSION, TWIN FALLS COUNTY, MILNER ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    148. TWIN FALLS MAIN CANAL DIVERSION, TWIN FALLS COUNTY, MILNER DAM; HEADGATES AT INLET, SOUTHWEST VIEW. - Milner Dam & Main Canal: Twin Falls Canal Company, On Snake River, 11 miles West of city of Burley, Idaho, Twin Falls, Twin Falls County, ID

  5. 98. SHOESTRING, TWIN FALLS MAIN CANAL, TWIN FALLS COUNTY NORTHWEST ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    98. SHOESTRING, TWIN FALLS MAIN CANAL, TWIN FALLS COUNTY NORTHWEST OF MURTAUGH, IDAHO; PROFILE VIEW, SOUTH. - Milner Dam & Main Canal: Twin Falls Canal Company, On Snake River, 11 miles West of city of Burley, Idaho, Twin Falls, Twin Falls County, ID

  6. 99. POINT SPILL, TWIN FALLS MAIN CANAL, TWIN FALLS COUNTY ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    99. POINT SPILL, TWIN FALLS MAIN CANAL, TWIN FALLS COUNTY NORTHWEST OF MURTAUGH, IDAHO; CLOSE-UP OF OUTLET SIDE OF GATES, SOUTH VIEW. - Milner Dam & Main Canal: Twin Falls Canal Company, On Snake River, 11 miles West of city of Burley, Idaho, Twin Falls, Twin Falls County, ID

  7. 141. TWIN FALLS MAIN CANAL DIVERSION, TWIN FALLS COUNTY, MILNER, ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    141. TWIN FALLS MAIN CANAL DIVERSION, TWIN FALLS COUNTY, MILNER, IDAHO; CLOSE-UP OF MAIN HEADGATES, RADIAL GATES INSIDE, SOUTHEAST VIEW. - Milner Dam & Main Canal: Twin Falls Canal Company, On Snake River, 11 miles West of city of Burley, Idaho, Twin Falls, Twin Falls County, ID

  8. The heritability of age-related cortical cataract: the twin eye study.

    PubMed

    Hammond, C J; Duncan, D D; Snieder, H; de Lange, M; West, S K; Spector, T D; Gilbert, C E

    2001-03-01

    A classical twin study was performed to establish the relative importance of genes and environment in cortical cataract. Five hundred six pairs of unselected female twin volunteers (226 monozygotic and 280 dizygotic) with a mean age of 62 years (range, 49-79 years) were examined. Cortical cataract was assessed using the slit-lamp-based Oxford Clinical Cataract Classification and Grading System (clinical grading) and the Wilmer Automated Grading System, which analyzed digital retroillumination images of subjects' lenses (digital grading). The worse eye categorized score for each individual was used in maximum likelihood path modeling of the correlations within twin pairs. These correlations were used to determine the underlying liability to cortical cataract. Prevalence of significant cortical cataract (>/=5% of lens area) was similar in monozygotic and dizygotic twins, occurring in 19.4% and 20.6% with the clinical grading system and 24% and 23% using the digital grading system, respectively. Modeling suggested liability to cortical cataract is explained by additive and dominant genes, individual environment, and age. Estimates of the broad sense heritability of cortical cataract were 58% (95% confidence interval [CI], 51%-64%) for the clinical grading system and 53% (95% CI, 45%-60%) for the digital system. Dominant genes were estimated to contribute to 38% (95% CI, 1%-64%) of the genetic effect with the clinical grading and 53% (95% CI, 28%-60%) with the digital grading. Individual environment explained 26% and 37% and age 16% and 11% of cortical cataract variance in clinical and digital gradings, respectively. Genetic effects are important in the development of cortical cataract and involve the action of dominant genes.

  9. Prevalence of and Familial Influences on Purging Disorder in a Community Sample of Female Twins

    PubMed Central

    Munn-Chernoff, Melissa A.; Keel, Pamela K.; Klump, Kelly L.; Grant, Julia D.; Bucholz, Kathleen K.; Madden, Pamela A. F.; Heath, Andrew C.; Duncan, Alexis E.

    2014-01-01

    Objective Purging Disorder (PD) was recently included as an Otherwise Specified Feeding or Eating Disorder (OSFED) in the DSM-5; however, limited information is available on its prevalence, and its etiology is unknown. Method Data from 1790 monozygotic and 1440 dizygotic European American female twins (age range = 18 – 29 years) from the Missouri Adolescent Female Twin Study were used to investigate prevalence and familial influences for PD. A structured clinical interview assessed lifetime DSM-IV criteria for eating disorders and PD. After adjustment for age, twin correlations and biometrical twin models were used to estimate familial (i.e., genetic plus shared environmental) influences on PD. Results One hundred and twenty one (3.77%; 95% CI: 3.14, 4.49) women met criteria for lifetime PD. Twin correlations suggested that genetic, shared environmental, and nonshared environmental factors influenced liability to PD. Nonshared environmental factors accounted for 56% [35%, 79%] of the variance in PD. Although familial effects accounted for a significant proportion of variance (44% [21%, 65%]), it was not possible to disentangle the independent contributions of additive genetic effects (20% [0%, 65%]) and shared environmental effects (24% [0%, 57%]). Discussion PD is a prevalent form of eating pathology. Familial factors are relevant to the development of PD but do not demonstrate the magnitude of heritable factors found for other eating disorders. PMID:25808399

  10. Familial resemblance in religiousness in a secular society: a twin study.

    PubMed

    Hvidtjørn, Dorte; Petersen, Inge; Hjelmborg, Jacob; Skytthe, Axel; Christensen, Kaare; Hvidt, Niels C

    2013-04-01

    It is well known that human behavior and individual psychological traits are moderately to substantially heritable. Over the past decade, an increasing number of studies have explored the genetic and environmental influence on religiousness. These studies originate predominantly from countries generally considered more religious than the very secular northern European countries. Comparisons of the results are complicated by diverse definitions of religiousness, but several studies indicate that the influence of the family environment is most predominant in early life, whereas genetic influences increase with age. We performed a population-based twin study of religiousness in a secular society using data from a Web-based survey sent to 6,707 Danish twins born 1970-1989, who were identified in the Danish Twin Registry. We applied Fishman's three conceptual dimensions of religiousness: cognition, practice, and importance. In all polygenic models and biometric analyses, we controlled for gender and age. The study sample comprised 2,237 same sex twins, a response rate of 45%. We found high correlations within both monozygotic and dizygotic twin pairs in most items of religiousness, indicating a large influence from shared environmental factors. Personal religiousness such as praying to God, believing in God, and finding strength and comfort in religion were more influenced by genetic factors than were social forms of religiousness such as church attendance. We found a small tendency for increasing genetic influence with increasing age for some religious items, but not for all.

  11. A proton MR spectroscopy study of the thalamus in twins with autism spectrum disorder.

    PubMed

    Hegarty, John P; Gu, Meng; Spielman, Daniel M; Cleveland, Sue C; Hallmayer, Joachim F; Lazzeroni, Laura C; Raman, Mira M; Frazier, Thomas W; Phillips, Jennifer M; Reiss, Allan L; Hardan, Antonio Y

    2017-09-20

    Multiple lines of research have reported thalamic abnormalities in individuals with autism spectrum disorder (ASD) that are associated with social communication impairments (SCI), restricted and repetitive behaviors (RRB), or sensory processing abnormalities (SPA). Thus, the thalamus may represent a common neurobiological structure that is shared across symptom domains in ASD. Same-sex monozygotic (MZ) and dizygotic (DZ) twin pairs with and without ASD underwent cognitive/behavioral evaluation and magnetic resonance imaging to assess the thalamus. Neurometabolites were measured with (1)H magnetic resonance spectroscopy (MRS) utilizing a multi-voxel PRESS sequence and were referenced to creatine+phosphocreatine (tCr). N-acetyl aspartate (NAA), a marker of neuronal integrity, was reduced in twins with ASD (n=47) compared to typically-developing (TD) controls (n=33), and this finding was confirmed in a sub-sample of co-twins discordant for ASD (n=11). NAA in the thalamus was correlated to a similar extent with SCI, RRB, and SPA, such that reduced neuronal integrity was associated with greater symptom severity. Glutamate+glutamine (Glx) was also reduced in affected versus unaffected co-twins. Additionally, NAA and Glx appeared to be primarily genetically-mediated, based on comparisons between MZ and DZ twin pairs. Thus, thalamic abnormalities may be influenced by genetic susceptibility for ASD but are likely not domain-specific. Copyright © 2017. Published by Elsevier Inc.

  12. Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate

    PubMed Central

    Leslie, Elizabeth J.; Carlson, Jenna C.; Cooper, Margaret E.; Christensen, Kaare; Weinberg, Seth M.; Marazita, Mary L.

    2016-01-01

    Objective Monozygotic twins of an individual with an orofacial cleft have a significantly elevated risk for orofacial cleft compared with the general population, but still the concordance rate for orofacial cleft in monozygotic twins is about 40% to 50%. The goal of this study was to determine whether unaffected cotwins have an increased frequency of orbicularis oris muscle defects, a subclinical form of orofacial cleft. The presence of such defects may reduce the overall rate of discordance. Method A total of 63 discordant monozygotic and dizygotic twin pairs, 262 unaffected nontwin siblings, and 543 controls with no history of orofacial clefts were assessed for orbicularis oris defects by high-resolution ultrasound. Frequencies were compared by the Fisher exact test. Results Unaffected cotwins from discordant monozygotic pairs had a higher frequency of defects (12.5%) than the other test groups (6.38% to 6.99%), but the difference was not statistically significant (P = .74). Conclusions In this study, orbicularis oris defects were not statistically significantly more common among the unaffected twins from orofacial cleft discordant twin pairs. The trends in the results warrant future studies with larger sample sizes and additional subclinical phenotypes. PMID:26882109

  13. X chromosome gene methylation in peripheral lymphocytes from monozygotic twins discordant for scleroderma

    PubMed Central

    Selmi, C; Feghali-Bostwick, C A; Lleo, A; Lombardi, S A; De Santis, M; Cavaciocchi, F; Zammataro, L; Mitchell, M M; LaSalle, J M; Medsger Jr, T; Gershwin, M E

    2012-01-01

    Scleroderma (SSc) is a rare connective tissue disease characterized by fibrosis, microvasculopathy and autoimmune features. The role of genetics is limited in SSc, as suggested by similar concordance rates in monozygotic and dizygotic twin pairs, while environmental factors may act through epigenetic changes, as demonstrated for specific genes. Further, sex chromosome changes have been reported in SSc and may explain the female preponderance. In the present study we compared the methylation profile of all X chromosome genes in peripheral blood mononuclear cells from monozygotic twins discordant (n = 7) and concordant (n = 1) for SSc. Methylated DNA immunoprecipitations from each discordant twin pair were hybridized to a custom-designed array included 998 sites encompassing promoters of all X chromosome genes and randomly chosen autosomal genes. Biostatistical tools identified sites with an elevated probability to be consistently hypermethylated (n = 18) or hypomethylated (n = 25) in affected twins. Identified genes include transcription factors (ARX, HSFX1, ZBED1, ZNF41) and surface antigens (IL1RAPL2, PGRMC1), and pathway analysis suggests their involvement in cell proliferation (PGK1, SMS, UTP14A, SSR4), apoptosis (MTM1), inflammation (ARAF) and oxidative stress (ENOX2). In conclusion, we propose that X chromosome genes with different methylation profiles in monozygotic twin pairs may constitute candidates for SSc susceptibility. PMID:22861365

  14. Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate.

    PubMed

    Leslie, Elizabeth J; Carlson, Jenna C; Cooper, Margaret E; Christensen, Kaare; Weinberg, Seth M; Marazita, Mary L

    2017-01-01

      Monozygotic twins of an individual with an orofacial cleft have a significantly elevated risk for orofacial cleft compared with the general population, but still the concordance rate for orofacial cleft in monozygotic twins is about 40% to 50%. The goal of this study was to determine whether unaffected cotwins have an increased frequency of orbicularis oris muscle defects, a subclinical form of orofacial cleft. The presence of such defects may reduce the overall rate of discordance.   A total of 63 discordant monozygotic and dizygotic twin pairs, 262 unaffected nontwin siblings, and 543 controls with no history of orofacial clefts were assessed for orbicularis oris defects by high-resolution ultrasound. Frequencies were compared by the Fisher exact test.   Unaffected cotwins from discordant monozygotic pairs had a higher frequency of defects (12.5%) than the other test groups (6.38% to 6.99%), but the difference was not statistically significant (P = .74).   In this study, orbicularis oris defects were not statistically significantly more common among the unaffected twins from orofacial cleft discordant twin pairs. The trends in the results warrant future studies with larger sample sizes and additional subclinical phenotypes.

  15. Genetic and environmental influences on depressive symptoms by age and gender in African American twins.

    PubMed

    Whitfield, Keith E; Edwards, Christopher L; Brandon, Dwayne; McDougald, Camela

    2008-03-01

    Depression is typically considered relative to individuals and thought to originate from both biological and environmental factors. However, the environmental constraints and insults that African Americans experience likely influence the concordance by age and gender for depression scores among adult African American twins. Monozygotic (MZ) (n = 102) and Dizygotic (DZ) (n = 110) twins, age 25-88 years in the Carolina African American Twin Study of Aging were examined using an 11-item version of the CES-D measure of depressive symptomatology. Those participants with scores above nine were considered depressed. Overall, the MZ pairs had a higher concordance than the DZ pairs implying genetic influence. Both MZ and DZ males had higher concordances than either female zygosity groups. The difference between the concordance rates for MZ and DZ twin pairs was greater in males than females. By age group, the difference between the concordance rates for younger MZ and DZ twin pairs was much larger than for older pairs. The results suggest that, even though African Americans may be at risk for depression due to contextual/environmental factors, genetic influences remain important.

  16. A comprehensive profiling of supragingival bacterial composition in Chinese twin children and their mothers.

    PubMed

    Du, Qin; Li, Mingyun; Zhou, Xuedong; Tian, Kun

    2017-05-01

    To investigate the factors influencing the oral microbiome, 16 twin pairs and their mothers were enrolled in this study. There were 7 monozygotic (MZ) twins and 9 dizygotic (DZ) twins, with an average age of 6.18 ± 3.5. Supragingival plaques and caries tissues were collected and the 16S rDNA was analyzed by 454 pyrosequencing. A total of 18 phyla and 179 genuses were found. Caries children harbored a higher portion of Actinobacteria than caries-free ones, and one lineage was found to be less abundant in the caries tissues compared to the supragingival plaque at each level from the phylum down to the genus level, which was Fusobacteria at Phylum, Fusobacteriia at Class, Fusobacteriales at Order, Leptotrichiaceae at Family and Leptotrichia at genus level. The adults harbored a significantly higher portion of Treponema, which may be related to adult periodontitis. The phylogenetic tree showed that there was a high similarity of oral microbiota within co-twins, but no significant difference was detected between MZ and DZ twins. Also, the similarity level of primary dentition children to their mother was significantly higher than that of mixed dentition children, suggesting that environmental factors may have a stronger impact than the genetic factors on the constitution of the oral microbiome.

  17. Twin frequency and industrial pollution in different regions of Hesse, Germany.

    PubMed

    Obi-Osius, N; Misselwitz, B; Karmaus, W; Witten, J

    2004-06-01

    To investigate whether twinning occurs more frequently in residents in the vicinity of a toxic waste incinerator (TWI). Within a longitudinal environmental study that addressed child health second grade school children and their parents were recruited. The proportion of twinning in the TWI region was compared with two comparison areas. In a second confirmatory investigation, birth records for the years 1994-97 from the Hessian Perinatal Survey (HEPS) were accessed to determine whether the incidence of twinning was higher in regions around the TWI compared to adjacent reference areas. In the environmental study, 61.5% of the children and 95% of their mothers participated. In mothers, twinning was 5.3% in the TWI region compared to 1.6% and 2.3% in the comparison regions. The proportion of mothers with fertility assessment/treatment was 5.7%, 8.3%, and 0% respectively. The prevalence of twinning was not significantly higher (4.5%) in mothers with treatment compared to mothers without (3.7%). From the HEPS, data of 20 603 births was analysed. The incidence of twins was significantly higher in areas which surround the TWI and other industries (1.4-1.6 per 100 births) compared to births in reference areas (0.8 per 100). Twinning rates may be associated with exposure to industrial pollution. Future environmental health studies that consider multiple births as an outcome are warranted. These should also investigate whether the incidence of monozygotic or dizygotic twinning may be associated with industrial pollution.

  18. Twin frequency and industrial pollution in different regions of Hesse, Germany

    PubMed Central

    Obi-Osius, N; Misselwitz, B; Karmaus, W; Witten, J

    2004-01-01

    Aims: To investigate whether twinning occurs more frequently in residents in the vicinity of a toxic waste incinerator (TWI). Methods: Within a longitudinal environmental study that addressed child health second grade school children and their parents were recruited. The proportion of twinning in the TWI region was compared with two comparison areas. In a second confirmatory investigation, birth records for the years 1994–97 from the Hessian Perinatal Survey (HEPS) were accessed to determine whether the incidence of twinning was higher in regions around the TWI compared to adjacent reference areas. Results: In the environmental study, 61.5% of the children and 95% of their mothers participated. In mothers, twinning was 5.3% in the TWI region compared to 1.6% and 2.3% in the comparison regions. The proportion of mothers with fertility assessment/treatment was 5.7%, 8.3%, and 0% respectively. The prevalence of twinning was not significantly higher (4.5%) in mothers with treatment compared to mothers without (3.7%). From the HEPS, data of 20 603 births was analysed. The incidence of twins was significantly higher in areas which surround the TWI and other industries (1.4–1.6 per 100 births) compared to births in reference areas (0.8 per 100). Conclusions: Twinning rates may be associated with exposure to industrial pollution. Future environmental health studies that consider multiple births as an outcome are warranted. These should also investigate whether the incidence of monozygotic or dizygotic twinning may be associated with industrial pollution. PMID:15150386

  19. Assessing genetic and environmental influences on epicardial and abdominal adipose tissue quantities: a classical twin study.

    PubMed

    Jermendy, A L; Kolossvary, M; Drobni, Z D; Tarnoki, A D; Tarnoki, D L; Karady, J; Voros, S; Lamb, H J; Merkely, B; Jermendy, G; Maurovich-Horvat, P

    2017-08-30

    Various adipose tissue compartments play an important role in the development of cardiometabolic diseases. The quantity of different fat compartments is influenced by genetic and environmental factors. The aim of our study was to evaluate the magnitude of genetic and environmental effects on epicardial, subcutaneous and visceral adipose tissue (EAT, SAT and VAT) quantities in a cohort of adult twin pairs. In this cross-sectional study we investigated adult twins (57 monozygotic (MZ) and 33 dizygotic (DZ) same-gender twin pairs; 180 twin subjects). We measured EAT volume using electrocardiogram-gated native computed tomography (CT) scan of the heart, and abdominal SAT and VAT areas were quantified between the third and fourth lumbar vertebra on native CT images. We calculated genetic and environmental impact on the size of various adipose tissue compartments by analyzing co-twin correlations in MZ and DZ pairs separately, and furthermore by using genetic structural equation models. In co-twin analysis, MZ twins had stronger correlations than DZ twins for EAT (rMZ=0.81, rDZ=0.32), similar to SAT and VAT quantities (rMZ=0.80, rDZ=0.68 and rMZ=0.79, rDZ=0.48, respectively). In multi-trait model fitting analysis, the overall contribution of genetic factors to EAT, SAT and VAT volumes were 80%, 78% and 70%, whereas environmental factors were 20%, 22% and 30%, respectively. Common pathway model analyses indicated that none of the EAT, SAT and VAT phenotypes was independent of the other two. Genetic factors have substantial influence, while environmental factors have only a modest impact on EAT volume, abdominal SAT and VAT quantities. There is a considerable amount of common genetic background influencing the quantities of all three adipose tissue compartments.International Journal of Obesity advance online publication, 19 September 2017; doi:10.1038/ijo.2017.212.

  20. Early menarche is associated with increased risk of asthma: Prospective population-based study of twins.

    PubMed

    Lieberoth, Sofie; Gade, Elisabeth; Kyvik, Kirsten Ohm; Backer, Vibeke; Thomsen, Simon Francis

    2015-05-01

    To examine the association between early menarche and risk of post-menarcheal asthma. Using data from two multidisciplinary questionnaire surveys, conducted eight years apart, we prospectively studied 10,648 female twins, 12-41 years of age, from the nationwide Danish Twin Registry. Early menarche was defined as menarche before 12 years of age. We performed a cohort analysis and a co-twin control analysis including twin pairs discordant for incident asthma. Early menarche was observed in 9.3% of the individuals. The eight-year cumulative incidence of asthma was higher in girls with early menarche compared to girls without early menarche (7.4 vs. 4.5%), OR = 1.71 (1.31-2.22), p < 0.001; also after adjustment for BMI, current age, physical activity, education, and smoking, OR = 1.53 (1.15-2.04), p = 0.003. The unadjusted risk of asthma was increased by 8% (1-15%), p = 0.041 per year earlier menarche occurred. Among 167 twin pairs discordant for incident asthma, there was a non-significant tendency towards early menarche being more common in the asthmatic than the non-asthmatic co-twin (12.0 vs. 9.6%), OR = 1.57 (0.61-4.05), p = 0.350. The risk of asthma was not uniform in discordant monozygotic and dizygotic twins. Early menarche is associated with increased risk of asthma among Danish female twins independently of BMI, age, physical activity, educational level and smoking. Results indicate a complex relationship possibly mediated through innate and non-genetic effects. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. Cohort Profile: Swedish Twin Study on Prediction and Prevention of Asthma (STOPPA).

    PubMed

    Almqvist, Catarina; Örtqvist, Anne K; Ullemar, Vilhelmina; Lundholm, Cecilia; Lichtenstein, Paul; Magnusson, Patrik K E

    2015-06-01

    Asthma is a common childhood disease and several risk factors have been identified; however, the impact of genes and environment is not fully understood. The aim of the Swedish Twin study On Prediction and Prevention of Asthma (STOPPA) is to identify environmental (birth characteristics and early life) and genetic (including epigenetic) factors as determinants for asthmatic disease. Based on the Child and Adolescent Twin Study in Sweden (CATSS) (parental interview at 9 or 12 years, N ~23,900) and an asthma and/or wheezing algorithm, we identified a sample of monozygotic (MZ) and dizygotic (DZ) same-sexed twin pairs. The twin pairs were classified as asthma concordant (ACC), asthma discordant (ADC) and healthy concordant (HCC). A sample of 9- to 14-year-old twins and their parents were invited to participate in a clinical examination. Background characteristics were collected in questionnaires and obtained from the National Health Registers. A clinical examination was performed to test lung function and capacity (spirometry with reversibility test and exhaled nitric oxide) and collect blood (serology and DNA), urine (metabolites), feces (microbiota), and saliva (cortisol). In total, 376 twin pairs (752 individual twins) completed the study, response rate 52%. All participating twins answered the questionnaire and >90% participated in lung function testing, blood-, and saliva sampling. This article describes the design, recruitment, data collection, measures, and background characteristics, as well as ongoing and planned analyses in STOPPA. Potential gains of the study include the identification of biomarkers, the emergence of candidates for drug development, and new leads for prevention of asthma and allergic disease.

  2. Genetic and environmental influences on sleep quality in middle-aged men: a twin study.

    PubMed

    Genderson, Margo R; Rana, Brinda K; Panizzon, Matthew S; Grant, Michael D; Toomey, Rosemary; Jacobson, Kristen C; Xian, Hong; Cronin-Golomb, Alice; Franz, Carol E; Kremen, William S; Lyons, Michael J

    2013-10-01

    Poor sleep quality is a risk factor for a number of cognitive and physiological age-related disorders. Identifying factors underlying sleep quality are important in understanding the etiology of these age-related health disorders. We investigated the extent to which genes and the environment contribute to subjective sleep quality in middle-aged male twins using the classical twin design. We used the Pittsburgh Sleep Quality Index to measure sleep quality in 1218 middle-aged twin men from the Vietnam Era Twin Study of Aging (mean age = 55.4 years; range 51-60; 339 monozygotic twin pairs, 257 dizygotic twin pairs, 26 unpaired twins). The mean PSQI global score was 5.6 [SD = 3.6; range 0-20]. Based on univariate twin models, 34% of variability in the global PSQI score was due to additive genetic effects (heritability) and 66% was attributed to individual-specific environmental factors. Common environment did not contribute to the variability. Similarly, the heritability of poor sleep-a dichotomous measure based on the cut-off of global PSQI>5-was 31%, with no contribution of the common environment. Heritability of six of the seven PSQI component scores (subjective sleep quality, sleep latency, sleep duration, habitual sleep efficiency, sleep disturbances, and daytime dysfunction) ranged from 0.15 to 0.31, whereas no genetic influences contributed to the use of sleeping medication. Additive genetic influences contribute to approximately one-third of the variability of global subjective sleep quality. Our results in middle-aged men constitute a first step towards examination of the genetic relationship between sleep and other facets of aging. © 2013 European Sleep Research Society.

  3. The heritability of blood donation: a population-based nationwide twin study.

    PubMed

    Pedersen, Ole Birger; Axel, Skytthe; Rostgaard, Klaus; Erikstrup, Christian; Edgren, Gustaf; Nielsen, Kaspar René; Ullum, Henrik; Kyvik, Kirsten Ohm; Hjalgrim, Henrik

    2015-09-01

    Voluntary blood donation is believed to be mostly motivated by altruism. Because studies have suggested that altruistic personality is determined by both genetic and environmental factors, we speculated that willingness to donate blood could also be governed by constitutional factors. This hypothesis was tested in a study among Danish twins. The nationwide Danish Twin Register, which is virtually complete for all twins born since 1968, was linked with Danish portion of the Scandinavian Donation and Transfusion (SCANDAT) Database, which includes information on all active Danish blood donors from 2002 to 2012, to establish blood donor status for Danish twins, who at age 17 years became eligible for donation in 2002 or later. Casewise concordance in monozygotic (MZ) and dizygotic (DZ) twins were presented and heritability was estimated in Mx by variance component analysis in a liability threshold model. A total of 274 MZ and 484 same-sex DZ twins age 17 to 27 years were identified as donors in SCANDAT. There was no difference between MZ and DZ twins with regard to age at first donation or number of donations. Casewise concordance rates were 0.61 (95% confidence interval [CI], 0.56-0.67) and 0.41 (95% CI, 0.36-0.47) in MZ and DZ twin pairs, respectively. Heritability analysis using the ACE model found that additive genetic and shared environmental effects accounted for 0.53 (95% CI, 0.33-0.73) and 0.28 (95% CI, 0.10-0.45) of the variance in the motivation to donate blood, respectively. Becoming a volunteer blood donor is determined by both genetic and environmental factors shared within families. © 2015 AABB.

  4. Early onset alcohol use and self-harm: A discordant twin analysis

    PubMed Central

    Few, Lauren R.; Werner, Kimberly B.; Sartor, Carolyn E.; Trull, Timothy; Nock, Matthew K.; Bucholz, Kathleen K.; Deitz, Sarah K.; Glowinski, Anne L.; Martin, Nicholas G.; Nelson, Elliot C.; Statham, Dixie J.; Madden, Pamela A. F.; Heath, Andrew; Lynskey, Michael T.; Agrawal, Arpana

    2015-01-01

    Background Self-harm has considerable societal and economic costs and has been extensively studied in relation to alcohol involvement. Whereas early onset alcohol use (EAU) has been causally linked to maladaptive clinical outcomes, its association with self-harm is less well characterized. The current study aimed to further examine the link between EAU and both non-suicidal self-injury (NSSI) and suicide attempt (SA), and elucidate shared familial and causal/individual-specific pathways that explain this co-occurrence. Methods Using data from 6,082 Australian same-sex twin pairs (1,732 MZ and 1,309 DZ), ages 23-40, we examined prevalence rates of NSSI and SA among twin pairs concordant and discordant for EAU. Conditional logistic regression, controlling for early clinical covariates and the influence of zygosity on EAU, was used to examine the odds ratio (OR) of self-harm within twin pairs discordant for EAU. Results Prevalence rates of both NSSI and SA were highest among twin pairs concordant for EAU and for twins who reported EAU within discordant twin pairs. Results from discordant twin analyses revealed nearly four-fold increased odds of SA for the twin who endorsed EAU, and this OR was equal across monozygotic (MZ) and dizygotic (DZ) twins. EAU also was associated with elevated odds of NSSI (OR=7.62), although this was only the case for DZ twins in discordant pairs. Conclusions The equivalent increase in odds of SA for both MZ and DZ twins suggests that causal or individual-specific influences explain the link between EAU and SA. For NSSI, elevated odds for DZ twins and nonsignificant findings for MZ twins implicate correlated genetic factors in the association between EAU and NSSI. Future studies should test mechanisms through which EAU may causally influence SA, as well as examine whether genetic risk for third variables (e.g., negative urgency, stress reactivity) may explain the genetic overlap between EAU and NSSI. PMID:26463647

  5. Is there change in intelligence quotient in chronically ill schizophrenia patients? A longitudinal study in twins discordant for schizophrenia.

    PubMed

    Hedman, A M; van Haren, N E M; van Baal, G C M; Brans, R G H; Hijman, R; Kahn, R S; Hulshoff Pol, H E

    2012-12-01

    Intellectual deficits are commonly found in schizophrenia patients. These intellectual deficits have been found to be heritable. However, whether the intellectual deficits change over time and, if so, whether the change is related with an increased genetic risk for the disease are not known. We investigated change of intelligence quotient (IQ) in a twin sample of chronically ill schizophrenia patients, the discordant co-twins and healthy controls during a follow-up period of 5 years. A total of 52 twins completed two IQ assessments: nine patients [three monozygotic (MZ) and six dizygotic (DZ)], 10 unaffected co-twins (three MZ and seven DZ) and 33 healthy control twins (21 MZ and 12 DZ). A significant interaction effect over time was found between IQ measurement and illness (F=4.22, df=1, p<0.05), indicating that change in IQ over time is significantly different between the groups. A stable course in IQ over time was found in the patients with schizophrenia (mean IQ from 109.78 at baseline to 108.44 at follow-up) relative to both the healthy control twins who showed a small increase (from 114.61 at baseline to 119.18 at follow-up) (t=2.06, p<0.05) and the unaffected co-twins (from 111.60 to 117.60, t=-2.32, p<0.05). IQ change in the unaffected co-twins of schizophrenia patients was comparable with that in healthy control twins (t=-0.49, p=0.63). Patients with schizophrenia in the chronic phase of the disease, but not the discordant co-twins, show a lack of increase in IQ, which is probably due to environmental (non-genetic) factors related to the disease.

  6. Co-twin study of the effect of environment and dietary elements on acquisition of Helicobacter pylori infection.

    PubMed

    Malaty, H M; Graham, D Y; Isaksson, I; Engstrand, L; Pedersen, N L

    1998-10-15

    The rate of Helicobacter pylori infection is inversely related to socioeconomic status, and childhood is thought to be the major acquisition period. The authors investigated the importance of childhood environment in the acquisition of H. pylori infection. A cross-sectional study was conducted of monozygotic and dizygotic twins who were reared apart or reared together. Three hundred twins from a subregistry of the Swedish Twin Registry were studied. H. pylori status was evaluated by using an enzyme-linked immunosorbent assay for anti-H. pylori immunoglobulin G. Socioeconomic status during childhood was assessed on the basis of the density of the living conditions and the economic situation of the family that reared the twins. Current socioeconomic status was estimated by using a scale that combined income and education. Dietary elements that were studied included fat and fiber intake and ascorbic acid consumption. The density of the childhood home was consistently found to be significantly associated with the acquisition of H. pylori infection (p = 0.04). Among monozygotic twins reared apart and discordant for H. pylori status, affected twins were raised in homes under poorer socioeconomic conditions than those of their unaffected co-twins (p = 0.02). Additionally, infected twins consumed more ascorbic acid than their unaffected co-twins (p = 0.04). The finding of an effect of socioeconomic status during childhood on the acquisition of H. pylori among monozygotic twins who were reared apart and had an identical genetic makeup but not a common environment confirms the hypothesis that childhood acquisition of H. pylori infection is linked to hygiene practices.

  7. Ankylosing spondylitis in Danish and Norwegian twins: occurrence and the relative importance of genetic vs. environmental effectors in disease causation.

    PubMed

    Pedersen, O B; Svendsen, A J; Ejstrup, L; Skytthe, A; Harris, J R; Junker, P

    2008-01-01

    To estimate the influence of genetic effects in the aetiology and pathogenesis of ankylosing spondylitis (AS). The study comprised one Norwegian and two Danish nationwide twin surveys. In 1994 and 2002, respectively, 37,388 and 46,331 Danish twin individuals were asked by questionnaire if they had AS. Similarly, in 1998, 12,718 Norwegian twins were asked if they had AS using a questionnaire phrased according to the Danish survey. Twins reporting AS were categorized according to the modified New York criteria. A total of 113 twin individuals reported AS, of whom 81 (72.3%) participated in validation of the diagnosis. After validation, 39 probands were diagnosed with AS. Subsequent invitation of co-twins resulted in 27 complete pairs. The point prevalence and the annual incidence of AS was 0.1% and 3/100,000 person-years (pyr) among the Danish twins. The positive predictive value of self-reported AS was 49.3%. Probandwise concordance rates on AS were (2/5) 40% in monozygotic (MZ) and (1/23) 4% in dizygotic (DZ) twins [difference 35% (95% CI 2.9-72.8), p = 0.26]. Heredity analysis including previously published and the present HLA-B27-positive twin pairs indicated that additive genetic effects account for 94% (95% CI 0.56-0.99) of the variance in the causation of AS. Self-reported AS needs careful validation. The occurrence of AS in a Danish twin population was 0.1% and accords well with previous studies on singletons in hospital settings. The present study adds to previous evidence of a major genetic effect in the pathogenesis of AS.

  8. Heritability of Tic Disorders: a Twin-Family Study

    PubMed Central

    Zilhao, Nuno R.; Olthof, Maria C.; Smit, Dirk J.A.; Cath, Danielle C.; Ligthart, Lannie; Mathews, Carol A.; Delucchi, Kevin; Boomsma, Dorret I.; Dolan, Conor V.

    2017-01-01

    Background Genetic-epidemiological studies that estimate the contributions of genetic factors to variation in tic symptoms are scarce. We estimated the extent to which genetic and environmental influences contribute to tics, employing various phenotypic definitions ranging between mild and severe symptomatology, in a large population-based adult twin-family sample. Methods In an extended twin-family design, we analyzed lifetime tic data reported by adult mono- and dizygotic twins (n= 8,323) and their family members (n=7,164; parents and siblings) from 7,311 families in the Netherlands Twin Register (NTR). We measured tics by the abbreviated version of the Schedule for Tourette and Other Behavioral Syndromes (STOBS) (TSAICG, 2007). Heritability was estimated by genetic Structural Equation Modeling (SEM) for four tic disorder definitions: three dichotomous and one trichotomous phenotype, characterized by increasingly strictly defined criteria. Results Prevalence rates of the different tic disorders in our sample varied between 0.3 and 4.5% depending on tic disorder definition. Tic frequencies decreased with increasing age. Heritability estimates varied between .25 and .37, depending on phenotypic definitions. None of the phenotypes showed evidence of assortative mating, effects of shared environment, or non-additive genetic effects. Conclusions Heritabilities of mild and severe tic phenotypes were estimated to be moderate. Overlapping confidence intervals of the heritability estimates suggest overlapping genetic liabilities between the various tic phenotypes. The most lenient phenotype (defined only by tic characteristics, excluding criteria B, C and D of DSMIV) rendered sufficiently reliable heritability estimates. These findings have implications in phenotypic definitions for future genetic studies. PMID:27974054

  9. Heritability of tic disorders: a twin-family study.

    PubMed

    Zilhão, N R; Olthof, M C; Smit, D J A; Cath, D C; Ligthart, L; Mathews, C A; Delucchi, K; Boomsma, D I; Dolan, C V

    2017-04-01

    Genetic-epidemiological studies that estimate the contributions of genetic factors to variation in tic symptoms are scarce. We estimated the extent to which genetic and environmental influences contribute to tics, employing various phenotypic definitions ranging between mild and severe symptomatology, in a large population-based adult twin-family sample. In an extended twin-family design, we analysed lifetime tic data reported by adult mono- and dizygotic twins (n = 8323) and their family members (n = 7164; parents and siblings) from 7311 families in the Netherlands Twin Register. We measured tics by the abbreviated version of the Schedule for Tourette and Other Behavioral Syndromes. Heritability was estimated by genetic structural equation modeling for four tic disorder definitions: three dichotomous and one trichotomous phenotype, characterized by increasingly strictly defined criteria. Prevalence rates of the different tic disorders in our sample varied between 0.3 and 4.5% depending on tic disorder definition. Tic frequencies decreased with increasing age. Heritability estimates varied between 0.25 and 0.37, depending on phenotypic definitions. None of the phenotypes showed evidence of assortative mating, effects of shared environment or non-additive genetic effects. Heritabilities of mild and severe tic phenotypes were estimated to be moderate. Overlapping confidence intervals of the heritability estimates suggest overlapping genetic liabilities between the various tic pheno