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Sample records for prenatal sonographic diagnosis

  1. Cell-free DNA testing: an aid to prenatal sonographic diagnosis.

    PubMed

    Chitty, Lyn S

    2014-04-01

    Sonographic diagnosis of fetal abnormalities is based on the recognition of sonographic patterns associated with structural abnormalities. Although diagnosis in some situations, such as neural tube defects, gastroschisis, and omphalocoele, can be straightforward, in many situations, the constellation of fetal abnormalities suggest an underlying chromosomal or genetic cause. In these situations, invasive testing is needed to provide the information required to make a definitive diagnosis, and thus accurately counsel parents. Since the identification of cell-free fetal DNA in maternal plasma, the potential for non-invasive prenatal diagnosis is increasingly becoming possible. In this chapter, the current role and future potential of non-invasive prenatal diagnosis, combined with new molecular techniques as an aid to sonographic diagnosis, will be discussed.

  2. [Prenatal sonographic diagnosis of a cystic coccygeal teratoma with retroperitoneal extension].

    PubMed

    Goldhofer, W; Merz, E; Bauer, H; Koltai, I L

    1986-02-01

    The most common teratoma of th newborn is the sacrococcygeal, which contains tissues of all three germinal layers. It is located over and under the sacrum or the coccyx and may extend in front of the sacrum into the retroperitoneal region. The teratoma can lead to compression of the ureters with resultant hydronephrosis or to obstruction of the rectum. The most important complication is the malignant change which usually occurs between the fourth month and the third year. Because of the complications early diagnosis of the teratoma is necessary and extirpation should be carried out as soon as possible. The present paper reports on the sonographic findings in a sacrococcygeal teratoma with retroperitoneal extension at 37 weeks gestation. The aetiology and pathogenesis of this malformation and the clinical findings are discussed.

  3. Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses.

    PubMed

    Kaga, Akimune; Murotsuki, Jun; Kamimura, Miki; Kimura, Masato; Saito-Hakoda, Akiko; Kanno, Junko; Hoshi, Kazuhiko; Kure, Shigeo; Fujiwara, Ikuma

    2015-05-01

    Achondroplasia and Down syndrome are relatively common conditions individually. But co-occurrence of both conditions in the same patient is rare and there have been no reports of fetal analysis of this condition by prenatal sonographic and three-dimensional (3-D) helical computed tomography (CT). Prenatal sonographic findings seen in persons with Down syndrome, such as a thickened nuchal fold, cardiac defects, and echogenic bowel were not found in the patient. A prenatal 3-D helical CT revealed a large head with frontal bossing, metaphyseal flaring of the long bones, and small iliac wings, which suggested achondroplasia. In a case with combination of achondroplasia and Down syndrome, it may be difficult to diagnose the co-occurrence prenatally without typical markers of Down syndrome.

  4. Prenatal Diagnosis and Evaluation of Sonographic Predictors for Intervention and Adverse Outcome in Congenital Pulmonary Airway Malformation

    PubMed Central

    Hellmund, Astrid; Berg, Christoph; Geipel, Annegret; Bludau, Meike; Heydweiller, Andreas; Bachour, Haitham; Müller, Andreas; Müller, Annette; Gembruch, Ulrich

    2016-01-01

    Objective To describe antenatal findings and evaluate prenatal risk parameters for adverse outcome or need for intervention in fetuses with congenital pulmonary airway malformation (CPAM). Methods In our retrospective study all fetuses with a prenatal diagnosis of CPAM detected in our tertiary referral center between 2002 and 2013 were analyzed. Sonographic findings were noted and measurements of mass-to-thorax-ratio (MTR), congenital pulmonary airway malformation volume-ratio (CVR) and observed to expected lung-to head-ratio (o/e LHR) were conducted and correlated to fetal or neonatal morbidity and mortality and/or need for prenatal intervention. Results 67 fetuses with CPAM were included in the study. Hydropic fetuses were observed in 16.4% (11/67) of cases, prenatal intervention was undertaken in 9 cases; 7 pregnancies were terminated. The survival rate of non-hydropic fetuses with conservatively managed CPAM was 98.0% (50/51), the survival rate for hydropic fetuses with intention to treat was 42.9% (3/7). 10 (18.2%) children needed respiratory assistance. Fetuses with a CVR of <0.91 were significantly less likely to experience adverse outcome or need for prenatal intervention with sensitivity, specificity and positive/negative predictive value of 0.89, 0.71, 0.62 and 0.93, respectively. A MTR (mass-to-thorax-ratio) of < 0.51 had a positive predictive value of 0.54 and a negative predictive value of 0.96 of adverse events with a sensitivity of 0.95 and a specificity of 0.63. The negative predictive value for o/e LHR of 45% was 0.84 with sensitivity, specificity and positive predictive value of 0.73, 0.68 and 0.52, respectively. Conclusions The majority of cases with CPAM have a favorable outcome. MTR and CVR are able to identify fetuses at risk, the o/e LHR is less sensitive. PMID:26978067

  5. Sonographic markers for early diagnosis of fetal malformations

    PubMed Central

    Renna, Maria Daniela; Pisani, Paola; Conversano, Francesco; Perrone, Emanuele; Casciaro, Ernesto; Renzo, Gian Carlo Di; Paola, Marco Di; Perrone, Antonio; Casciaro, Sergio

    2013-01-01

    Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a “genetic sonogram”, including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.). PMID:24179631

  6. Prenatal sonographic detection of nasopharyngeal teratoma.

    PubMed

    Sağol, S; Itil, I M; Ozsaran, A; Oztekin, K; Ozbek, S S

    1999-10-01

    We present the case of a 34-year-old pregnant woman who had an elevated maternal serum alpha-fetoprotein level and sonographic findings of a semisolid mass protruding from the fetus's oral cavity. The large, heterogeneous mass filled the oropharynx and nasopharynx. Abnormal Doppler waveforms were detected in the umbilical artery of the fetus, who died in utero. Postmortem examination revealed a nasopharyngeal teratoma. PMID:10477890

  7. Prenatal diagnosis of achondrogenesis.

    PubMed

    Golbus, M S; Hall, B D; Filly, R A; Poskanzer, L B

    1977-09-01

    Severe rhizomelic and mesomelic dwarfism was demonstrated in a 20-week gestation fetus by amniography. A systematic progressive approach to prenatal diagnosis in the absence of a definitive diagnosis and the use of contrast radiography is discussed. PMID:894421

  8. Prenatal diagnosis of holoprosencephaly with ethmocephaly via 3-dimensional sonography.

    PubMed

    Lee, Gui-Se-Ra; Hur, Soo Young; Shin, Jong-Chul; Kim, Soo-Pyung; Kim, Sa Jin

    2006-01-01

    We present the prenatal 3-dimensional (3D) sonographic findings in a case of holoprosencephaly with ethmocephaly at 32 weeks' gestation. The sonographic diagnosis was based on the intracranial findings of a single ventricle and bulb-shaped appearance of the thalami and facial abnormalities, including hypotelorism with proboscis. Chromosome study of the fetus revealed a normal female karyotype (46,XX). Postmortem examination confirmed the 3D sonographic findings. This case demonstrates that the use of 3D sonography improves the imaging and the understanding of the condition of the intracranial abnormalities and the facial anomalies. PMID:16788963

  9. Human prenatal diagnosis

    SciTech Connect

    Filkins, K.; Russo, J.F.

    1985-01-01

    Advances in the field of prenatal diagnosis have been rapid during the past decade. Moreover, liberal use of birth control methods and restriction of family size have placed greater emphasis on optimum outcome of each pregnancy. There are many prenatal diagnostic techniques of proven value; the risks, including false negatives and false positives, are known. With the rapid proliferation of new and experimental techniques, many disorders are potential diagnosable or even treatable; however, risk factors are unknown and issues relating to quality control have not been resolved. These problems are readily appreciated in the dramatic new techniques involving recombinant DNA, chorion villus sampling, and fetal surgery. Unfortunately, clinicians may not appreciate the difficulties that may also be encountered in the more mundane prenatal diagnostic tests such as ultrasonography or enzymatic testing. The aim of this volume is to clarify and rationalize certain aspects of diagnosis, genetic counseling, and intervention. New and experimental techniques are presented in the light of current knowledge.

  10. Prenatal diagnosis: whose right?

    PubMed

    Heyd, D

    1995-10-01

    The question who is the subject of the right to prenatal diagnosis may be answered in four ways: the parents, the child, society, or no one. This article investigates the philosophical issues involved in each of these answers, which touch upon the conditions of personal identity, the principle of privacy, the scope of social responsibility, and the debate about impersonalism in ethics.

  11. Human prenatal diagnosis

    SciTech Connect

    Filkins, K.; Russo, R.J.

    1985-01-01

    The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis.

  12. Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II.

    PubMed

    Johnson, J A; Aughton, D J; Comstock, C H; von Oeyen, P T; Higgins, J V; Schulz, R

    1994-01-15

    Smith-Lemli-Opitz syndrome, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual cleft palate, postaxial polydactyly, congenital heart defects, renal anomalies, and male pseudohermaphroditism. We present the first report of prenatal diagnosis of SLOS-II, as well as an additional report of prenatal detection of multiple anomalies, in which a positive diagnosis of SLOS II was made postnatally. In neither case was the pregnancy known prospectively to be at risk for SLOS-II. In the former case, targeted sonographic examination at 31 weeks of gestation showed intrauterine growth retardation, atrioventricular septal defect, mesomelic shortening of the arms, small kidneys, overlapping fingers, and female external genitalia; a 46,XY chromosome constitution had been ascertained previously. A provisional diagnosis of SLOS-II was made prenatally. In the latter case, targeted sonographic examination at 18 weeks of gestation showed severe oligohydramnios, atrioventricular septal defect, and Dandy-Walker malformation. The kidneys and bladder were not visualized. The chromosome constitution was 46,XX. The diagnosis of SLOS-II was made postnatally. In both cases, additional findings compatible with SLOS-II were noted postnatally. Prenatal detection of congenital heart defects and renal abnormalities, in combination with certain additional findings (most notably, female external genitalia in the presence of a 46,XY karyotype, polydactyly, disproportionately short limbs, or intrauterine growth retardation) and a normal karyotype, suggests the diagnosis of SLOS-II, and warrants further investigation.

  13. Prenatal diagnosis of colobomatous microphthalmos.

    PubMed

    Dar, Suhail A; Johal, Sheila C; Marino, Meghan J; Singh, Arun D

    2015-04-30

    Optic nerve coloboma and microphthalmos with colobomatous cyst are rare congenital anomalies that are difficult to detect on prenatal ultrasonography and magnetic resonance imaging. Only four cases of optic nerve coloboma and two cases of microphthalmos with colobomatous cyst have been detected on prenatal imaging. The authors report a case of a fetus initially suspected to have retinoblastoma of the right eye on prenatal ultrasonography who was later diagnosed as having microphthalmos on fetal magnetic resonance imaging. Following delivery, she was noted to have microphthalmos with colobomatous cyst of the right eye and optic nerve coloboma of the left eye. The authors also review the prenatal ocular imaging findings of the differential diagnosis.

  14. Difficult prenatal diagnosis: fetal coarctation

    PubMed Central

    Buyens, A.; Gyselaers, W.; Coumans, A.; Al Nasiry, S.; Willekes, C.; Boshoff, D.; Frijns, J.-P.; Witters, I.

    2012-01-01

    The prenatal diagnosis of fetal coarctation is still challenging. It is mainly suspected by ventricular disproportion (smaller left ventricle than right ventricle). The sensitivity of ventricular discrepancy is however moderate for the diagnosis of coarctation and there is a high false positive rate. Prenatal diagnosis of coarctation is important because the delivery can be arranged in a centre with a pediatric cardiac intensive careand this reduces postnatal complications and longterm morbidity. For many years the prenatal diagnosis of coarctation has been investigated to improve specificity and sensitivity by several of measurements. This article reviews all relevant articles from 2000 until 2011 searching pubmed and the reference list of interesting articles. An overview of specific measurements and techniques that can improve the diagnosis of coarctation has been made, such as the isthmus diameter, ductal diameter, isthmus/ductal ratio, z-scores derived from measurements of the distal aortic isthmus and arterial duct, the presence of a shelf andisthmal flow disturbance. Also 3-dimensional (3D) and 4-dimensional (4D) imaging with or without STIC has been suggested to be used as newer techniques to improve diagnosis of coarctation in fetal life. Although more methods regarding prenatal diagnosis of coarctationare being investigated, the ultrasound specialist remains challenged to correctly diagnose this cardiac anomaly in prenatal life. PMID:24753914

  15. Prenatal diagnosis of colobomatous microphthalmos.

    PubMed

    Dar, Suhail A; Johal, Sheila C; Marino, Meghan J; Singh, Arun D

    2015-01-01

    Optic nerve coloboma and microphthalmos with colobomatous cyst are rare congenital anomalies that are difficult to detect on prenatal ultrasonography and magnetic resonance imaging. Only four cases of optic nerve coloboma and two cases of microphthalmos with colobomatous cyst have been detected on prenatal imaging. The authors report a case of a fetus initially suspected to have retinoblastoma of the right eye on prenatal ultrasonography who was later diagnosed as having microphthalmos on fetal magnetic resonance imaging. Following delivery, she was noted to have microphthalmos with colobomatous cyst of the right eye and optic nerve coloboma of the left eye. The authors also review the prenatal ocular imaging findings of the differential diagnosis. PMID:25942066

  16. Genetic counseling and prenatal diagnosis (image)

    MedlinePlus

    Genetic counseling (and prenatal diagnosis) provides parents with the knowledge to make intelligent, informed decisions regarding possible pregnancy and its outcome. If a pregnancy occurs the couple may want to evaluate the fetus by prenatal diagnosis.

  17. [Sonographic diagnosis of presumed benign ovarian tumors].

    PubMed

    Marret, H; Cayrol, M

    2013-12-01

    To discriminate ovarian lesions is of particular importance in gynecological practice. Two main problems need answers: discrimination of benign and malignant adnexal masses and choice of the appropriate surgical treatment if necessary. Nearly 2% of the adnexal masses are ovarian carcinomas or borderline tumors. It is now, well established that ultrasonography is the gold standard for ovarian cyst diagnosis. The purpose of this data was to review the literature and to establish, with the evidence base medicine model, which parameters and existing diagnostic models using ultrasound and Doppler perform best in the evaluation of adnexal masses. Transvaginal sonography has demonstrated considerable advantage over conventional transabdominal sonography. However, transparietal sonography is still useful in large tumors. Definition of the nomenclature and classification was done and should be used. Unilocular ovarian cyst characterization seems easy using sonography and Doppler. In front of complication, discrimination of such functional cyst may be difficult but spontaneous regression confirms usually the expectative management. Dermoid cysts and endometriomas seem to be easier to discriminate from other adnexal masses. Ultrasound and morphologic parameters have a sensitivity of about 90% and a specificity of 80%; that makes this exam the gold standard for ovarian masses diagnosis. Only 50% of ovarian masses are characterized by sonography. Scoring systems help to differentiate benign from malignant masses (sensitivity of about 90%). Logistic regression and models are good methods especially for LR1 and 2 and RMI and may be useful for malignancy prediction but are difficult to use in current practice. Expert diagnosis is a subjective but most important performing parameter. Any suspicious ovarian mass or not easily diagnosed mass requires sonography by an expert, which can first use all the techniques and the different parameters to discriminate benign and malignant

  18. [Prenatal ultrasonographic diagnosis of congenital epulis--two case reports and literature review].

    PubMed

    Foryś, Sebastian; Krajewski, Jan; Krasomski, Grzegorz; Makowski, Andrzej; Zieliński, Andrzej; Kulig, Andrzej; Respondek-Liberska, Maria

    2010-06-01

    The following work presents prenatal ultrasonographic examination of two rare fetal cases of epulis, among 13 792 fetuses referred to our unit due to suspected fetal anomalies by obstetricians (estimated prevalence 1/7000 among fetuses with different anomalies). Sonographic differential diagnosis, value of fetal nasal amniotic fluid flow assessment by color Doppler and the probability of EXIT procedure have been described. PMID:20695198

  19. Specific skeletal dysplasias in utero: sonographic diagnosis.

    PubMed

    Pretorius, D H; Rumack, C M; Manco-Johnson, M L; Manchester, D; Meier, P; Bramble, J; Clewell, W

    1986-04-01

    A retrospective study was performed of 13 short-limbed fetuses with lethal skeletal dysplasias that were evaluated with ultrasound (US) from 1981 to 1984. The specific diagnoses were thanatophoric dwarfism, achondrogenesis, osteogenesis imperfecta, and campomelic dwarfism. Death occurred in utero or within 2 weeks after delivery in all cases. US examination showed other associated abnormalities, including polyhydramnios, hydrops, shortened femurs, and CNS abnormalities. Radiographs confirmed these findings and provided more information regarding the shape of the limbs and thorax and the appearance of the spine. The probable diagnosis of lethal short-limbed dwarfism was made antenatally using US in eleven of the fetuses. Spinal appearance, thoracic shape, and associated hydrops and polyhydramnios were most helpful in determining the specific type of dysplasia present. Lethal short-limbed skeletal dysplasia may be diagnosed confidently in utero using US examination; however, obstetric plain film radiography may be required to determine the definitive type of dysplasia. In certain cases, US may be sufficient to make a definitive diagnosis. PMID:3513248

  20. Prenatal diagnosis of achondrogenesis.

    PubMed

    Anteby, S O; Aviad, I; Weinstein, D

    1977-01-01

    An achondrogenic fetus, in whom the diagnosis was made prior to delivery by plain abdominal X-rays, is presented. The intrauterine characteristic roentgenographic manifestations are the short dense tubular bones of the extremities. An early diagnosis in fetuses with this disease can be made on a plain abdominal X-ray in the 22nd-24th week of gestation. PMID:300166

  1. Prenatal diagnosis of cloacal malformation.

    PubMed

    Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. PMID:26969229

  2. Prenatal diagnosis and management in fetuses with cystic hygromata colli.

    PubMed

    Gembruch, U; Hansmann, M; Bald, R; Zerres, K; Schwanitz, G; Födisch, H J

    1988-12-01

    We report on 45 fetuses with prenatally diagnosed bilateral cystic hygromata colli by ultrasound. Two of the 45 cases involved a twin pregnancy with only one fetus showing hygromata colli. In 2 cases there was only isolated hygromata colli. The other 43 cases showed the signs of non-immune hydrops fetalis. The cytogenetic findings were: 9 fetuses with Turner syndrome, 1 fetus with Turner mosaicism, 1 fetus with trisomy 18, 6 fetuses with trisomy 21, 12 fetuses with normal karyotype, and 16 fetuses with a failed chromosome culture. In fetuses with Turner syndrome and normal karyotype the sonographic findings were similar: massive bilateral hygromata colli, substantial fluid accumulations in skin and body cavities, oligohydramnios and intra-uterine growth retardation. In the cases with trisomy 21, the relative size of the hygromata colli was smaller. Intra-uterine growth retardation and oligohydramnios were not observed. The sole survivor of our group (elective pregnancy interruption: 30 cases; intra-uterine death: 14 cases) (karyotype: 46,XY) presented sonographically with massive ascites, a moderate cystic hygroma, and appropriate fetal development, and a normal amniotic fluid quantity. These findings are analysed in order to provide recommendations for prenatal diagnosis, prenatal management and genetic counselling of the couples concerned.

  3. The Future of Prenatal Diagnosis and Screening

    PubMed Central

    Pergament, Eugene

    2014-01-01

    The future of prenatal diagnosis and screening lies in developing clinical approaches and laboratory technologies applicable to genetic analyses and therapeutic interventions during embryonic development. PMID:26237604

  4. Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

    PubMed

    Yau, Mabel; Khattab, Ahmed; New, Maria I

    2016-06-01

    Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females. PMID:27241964

  5. Hemimegalencephaly: prenatal diagnosis and outcome.

    PubMed

    Alvarez, Rosa María; García-Díaz, Lutgardo; Márquez, Javier; Fajardo, Manuel; Rivas, Eloy; García-Lozano, Juan Carlos; Antiñolo, Guillermo

    2011-01-01

    Hemimegalencephaly (HME) is a developmental abnormality of the central nervous system (CNS) which may present as either a syndromic or isolated case. Here, we present two cases of early prenatal diagnosis of HME. Prenatal CNS ultrasound and MRI in the first case revealed ventricular asymmetry, midline shift with displacement of the occipital lobe across the midline, large dilatation mainly at the posterior horn of the left lateral ventricle, and a head circumference in the 90th percentile without involvement of the brain stem and cerebellum, as well as abdominal lymphangioma. Right hemispherectomy was performed at 3 months of age due to intractable seizures. The pathological specimen showed findings characteristic of HME, including a disorganized cytoarchitecture with lack of neuronal lamination, focal areas of polymicrogyria, and neuronal heterotopias with dysplastic cells. In the second case, 2D and 3D neurosonography demonstrated similar findings (asymmetry of cerebral hemispheres, midline shift, and dilation of the posterior horn of the left lateral cerebral ventricle). Posterior fossa structures were unremarkable. HME was diagnosed and the pregnancy was terminated. Autopsy findings confirmed the diagnosis of HME.

  6. Prenatal diagnosis of inherited metabolic diseases.

    PubMed Central

    Diukman, R; Goldberg, J D

    1993-01-01

    Advances in the prenatal diagnosis of inherited metabolic disease have provided new reproductive options to at-risk couples. These advances have occurred in both sampling techniques and methods of analysis. In this review we present an overview of the currently available prenatal diagnostic approaches for the diagnosis of metabolic disease in a fetus. Images PMID:8236980

  7. [Reverse genetics and prenatal diagnosis].

    PubMed

    Plauchu, H

    1988-05-01

    "Reverse" genetics is a research process consisting in finding the gene of a disease, then in "descending" toward the final product that it codes. This reasoning is the reverse of the one normally used which "ascends from the protein to the gene" and can be applied to the discovery of the pathogenic mechanism of a disease. There are numerous spin-offs of this new type of approach for prenatal diagnosis (PND). Thus, the discovery of polymorphic tracers surrounding the gene enables an indirect PND in informative families. Reliability is great if we have many probes at our disposal. Then, discovery of the gene itself permits a direct PND with the use of intragenic probes and synthetic oligonucleotides.

  8. [Prenatal diagnosis of choledochal cyst].

    PubMed

    Hernández Herrera, Ricardo Jorge; Flores Santos, Roberto; Hinojosa Salinas, Adán; Ramos González, René; Ramírez González, Beatriz

    2013-02-01

    The choledocal cyst is a defect of the biliary extrahepatic route, the incidence is 1 in 100-150,000 newborns. This paper reports the case of a female newborn with choledocal cyst detected prenatally, from a 32-year-old mother, 2nd term pregnancy, who was diagnosed in the routine obstetric ultrasound as an abdominal fetal cyst. An anatomic obstetric ultrasound confirmed the diagnosis that was defined of a probable hepatic origin. Newborn was delivered at 39 weeks by caesarean section, with weight of 3,980 g and Apgar score 9-9 in conventional time. Newborn presented a maxim bilirubin level of 16 mg, controlled with phototherapy; the hepatic function was normal. Ultrasound showed a choledocal cyst which measured 50 x 49 x 48 mm, with dilatation of the hepatic common conduct, the gall bladder was normal. The abdominal scan reported a cystic mass in the middle abdominal region of 44 x 53 x 52 mm confirming a choledocal cyst. The diagnosis was confirmed after surgery. Patient had a satisfactory post-surgical evolution. PMID:23596735

  9. [Osteochondrodysplasias. Prenatal diagnosis and pathological-anatomic findings].

    PubMed

    Tennstedt, C; Bartho, S; Bollmann, R; Schwenke, A; Nitz, I; Rothe, K

    1993-03-01

    Prenatal sonographic investigations were applied for malformations to 7,194 foetuses, between October 1985 and April 1992, with 28 cases of osteochondrodysplasia (OCD) and one case of dysostosis being dissected. Included were 20 cases of lethal osteochondrodysplasia, among them two cases of lethal hypophosphatasia, five cases of thanatophoric dysplasia, one case each of Type II shortrib (polydactyly) syndrome (VERMA-NAUMOFF) and metatropic dysplasia, three cases of campomelic dysplasia and eight cases of Type II A imperfect osteogenesis. Also observed were eight cases of nonlethal OCD, among them three cases of diastrophic dysplasia and five of achondroplasia. Dysostosis was recorded from one case and was diagnosed as Type V acrocephalosyndactyly (Pfeiffer). Identification of a specific OCD proved to be difficult in the second or third trimenon. Hence, the form of OCD was prenatally diagnosed only in ten of all cases investigated. Tentative diagnosis was first established from the postmortem radiograph. Additional malformations and other abnormalities then were detected by complementary pathologico-anatomic processing of findings. The final diagnosis was derived from radiological, pathologico-anatomic and histological findings. Diagnosis of this constitutional osteopathy is quite difficult and calls for interdisciplinary cooperation between gynaecologists, neonatologists, paediatric surgeons, radiologists, geneticists and pathologists. More effective counselling of affected families is the major purpose of all the efforts involved. PMID:8499423

  10. [Prenatal diagnosis of thanatophoric dwarfism].

    PubMed

    Gerihäuser, H; Schuster, C; Immervoll, H; Sochor, G

    1992-02-01

    Thanatophoric dwarfism is a rare malformation, occurring in less than 1:10,000 pregnancies. It can be discovered by standard ultrasound examination, but other skeletal dysplasias such as achondroplasia, achondrogenesis and polydactyly syndromes must be taken into consideration. Sonographic findings are polyhydramnia, narrow chest, symmetric tetramicromelia and macrocephaly. Macrocephaly might cause a problem for vaginal delivery. The narrow chest with secondary lung hypoplasia determines the infaust prognosis. PMID:1585160

  11. Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation.

    PubMed

    Mademont-Soler, Irene; Morales, Carme; Madrigal, Irene; Margarit, Ester; Bruguera, Jordi; Clusellas, Núria; Martínez, José M; Borrell, Antoni; Sánchez, Aurora; Soler, Anna

    2009-12-01

    The identification of an unexpected structural chromosome rearrangement at prenatal diagnosis can be problematic and raises unique genetic counseling issues. We describe two consecutive prenatal cases within a family with an inherited unbalanced (Y;12) translocation and discuss the genotype-phenotype correlation. The first fetus presented with 12qter monosomy and pseudoautosomal region 2 trisomy, while the second fetus had the alternative unbalanced state. Although the first fetus had a structural heart defect, such small imbalances might not give sonographic findings, making their prenatal diagnosis difficult. However, congenital abnormalities are expected in both unbalanced forms of the translocation, including mental retardation, which could be explained by the gene dosage variation of P2RX2. To our knowledge, these are the first published cases reporting this subtype of (Y;12) translocation, in both balanced and unbalanced states. PMID:19921651

  12. Prenatal diagnosis of 45,X/46,XX

    SciTech Connect

    Hsu, L.Y.F.

    1996-03-01

    I read with great interest the paper on {open_quotes}Prenatal Diagnosis of 45,X/46,XX mosaicism and 45,X: Implications for Postnatal Outcome{close_quotes} by Koeberl et al. They reported their experience with 12 prenatally diagnosed cases of 45,X/46,XX mosaicism and made a clinical comparison between those 12 cases and their own 41 postnatally diagnosed cases of 45,X/46,XX mosaicism. As expected, they found an overall milder phenotypic manifestation in the prenatal cases than in the postnatal ones. These authors report a lack of previous prognostic information on this type of prenatally diagnosis of mosaicism and offer their findings to fill this need. However, considerable information on this topic has been published. There have been >200 prenatally diagnosed cases of 45,X/46,XX. According to my data on 189 cases with a prenatal diagnosis of 45,X/46,XX mosaicism (Hsu 1992), there are 114 cases with available information on phenotypic outcome. Of these, 12 (10.5%) were reported to have some features of Turner syndrome, 4 had other anomalies probably not related to Turner syndrome, and 2 resulted in stillbirth. The overall rate for an abnormal phenotype in this category was thus 16/114 (14.03%). However, we must realize that, even in patients with a nonmosaic 45,X complement, the major features of Turner syndrome, such as short stature and sexual infantilism, are manifested only later in childhood or in adolescence. 3 refs.

  13. Prenatal diagnosis of 47,XXX.

    PubMed

    Khoury-Collado, Fady; Wehbeh, Ammar N; Fisher, Allan J; Bombard, Allan T; Weiner, Zeev

    2005-05-01

    We report 2 cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases underline the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination.

  14. Prenatal diagnosis of amniotic band syndrome

    PubMed Central

    Padmanabhan, Laxmi Devi; Hamza, Zareena V; Thampi, Madhavan Venugopalan; Nampoothiri, Sheela

    2016-01-01

    Amniotic band can cause a broad spectrum of anomalies ranging from simple band constrictions to major craniofacial and visceral defects. It can cause significant neonatal morbidity. Accurate diagnosis will help in the management of the present pregnancy and in counseling with regard to future pregnancies. Here we report three cases of amniotic band syndrome detected in the prenatal period. PMID:27081225

  15. Prenatal diagnosis of amniotic band syndrome.

    PubMed

    Padmanabhan, Laxmi Devi; Hamza, Zareena V; Thampi, Madhavan Venugopalan; Nampoothiri, Sheela

    2016-01-01

    Amniotic band can cause a broad spectrum of anomalies ranging from simple band constrictions to major craniofacial and visceral defects. It can cause significant neonatal morbidity. Accurate diagnosis will help in the management of the present pregnancy and in counseling with regard to future pregnancies. Here we report three cases of amniotic band syndrome detected in the prenatal period.

  16. [The sonographic diagnosis of hypertrophic stenosis of the pylorus].

    PubMed

    Rodríguez, R I; Briceño de Rodríguez, J A; Urrutia, M

    1993-09-01

    The clinical records of 18 children were studied, between 15 and 60 days old. They were hospitalized due to vomiting and diagnosis of suspected pyloric hypertrophic stenosis (PHS). The sonography confirmed the diagnosis in 8 children, by the thickening of the muscular layer and enlargement of the pyloric canal. The surgery (pyloromyotomy) ratified the diagnosis in all 8 children. They all were in good health after being operated. PMID:8146343

  17. [The sonographic diagnosis of hypertrophic stenosis of the pylorus].

    PubMed

    Rodríguez, R I; Briceño de Rodríguez, J A; Urrutia, M

    1993-05-01

    The clinical records of 18 children were studied, between 15 and 60 days old. They were hospitalized due to vomiting and diagnosis of suspected pyloric hypertrophic stenosis (PHS). The sonography confirmed the diagnosis in 8 children, by the thickening of the muscular layer and enlargement of the pyloric canal. The surgery (pyloromyotomy) ratified the diagnosis in all 8 children. They all were in good health after being operated. PMID:8327749

  18. Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

    PubMed Central

    Wapner, Ronald J.; Martin, Christa Lese; Levy, Brynn; Ballif, Blake C.; Eng, Christine M.; Zachary, Julia M.; Savage, Melissa; Platt, Lawrence D.; Saltzman, Daniel; Grobman, William A.; Klugman, Susan; Scholl, Thomas; Simpson, Joe Leigh; McCall, Kimberly; Aggarwal, Vimla S.; Bunke, Brian; Nahum, Odelia; Patel, Ankita; Lamb, Allen N.; Thom, Elizabeth A.; Beaudet, Arthur L.; Ledbetter, David H.; Shaffer, Lisa G.; Jackson, Laird

    2013-01-01

    Background Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. Methods Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. Results We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down’s syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. Conclusions In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.) PMID:23215555

  19. Sonographic diagnosis of an acute Stener lesion: a case report.

    PubMed

    Mattox, Ross; Welk, Aaron B; Battaglia, Patrick J; Scali, Frank; Nunez, Mero; Kettner, Norman W

    2016-01-01

    This case report describes the use of diagnostic ultrasound to diagnose a Stener lesion in a patient who presented for conservative care of thumb pain following a fall on an outstretched hand. Conventional radiographic images demonstrated an avulsion fracture at the ulnar aspect of the base of the first proximal phalanx. Diagnostic ultrasound revealed a torn ulnar collateral ligament of the thumb that was displaced proximal to the adductor aponeurosis, consistent with a Stener lesion. Dynamic imaging with ultrasound confirmed displacement of the fully torn ligament. Surgical repair followed the diagnosis. Diagnostic ultrasound in this case provided an accurate diagnosis obviating further imaging. This allowed an optimal outcome due to early intervention.

  20. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

    PubMed

    Fu, Fang; Liu, Huan-ling; Li, Ru; Han, Jin; Yang, Xin; Min, Pan; Zhen, Li; Zhang, Yong-ling; Xie, Gui-e; Lei, Ting-ying; Li, Yan; Li, Jian; Li, Dong-zhi; Liao, Can

    2014-08-10

    MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing.

  1. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

    PubMed

    Fu, Fang; Liu, Huan-ling; Li, Ru; Han, Jin; Yang, Xin; Min, Pan; Zhen, Li; Zhang, Yong-ling; Xie, Gui-e; Lei, Ting-ying; Li, Yan; Li, Jian; Li, Dong-zhi; Liao, Can

    2014-08-10

    MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing. PMID:24914495

  2. [Sonographic diagnosis of a case of type 1 achondrogenesis in the 2d trimester].

    PubMed

    Schramm, T; Nerlich, A

    1989-10-01

    The authors report on a prenatal ultrasonic diagnosis of lethal osteochondrodysplasia achondrogenesis type I (Parenti-Fraccaro) in the 17th week of pregnancy. The prenatal findings were confirmed by necropsy after termination of the pregnancy. The possibility to recognize lethal skeletal disorders early in pregnancy is discussed as well as the patho-anatomical criteria and possible patho-physiological mechanisms of achondrogenesis. PMID:2684730

  3. Sonographic diagnosis of an acute Stener lesion: a case report.

    PubMed

    Mattox, Ross; Welk, Aaron B; Battaglia, Patrick J; Scali, Frank; Nunez, Mero; Kettner, Norman W

    2016-01-01

    This case report describes the use of diagnostic ultrasound to diagnose a Stener lesion in a patient who presented for conservative care of thumb pain following a fall on an outstretched hand. Conventional radiographic images demonstrated an avulsion fracture at the ulnar aspect of the base of the first proximal phalanx. Diagnostic ultrasound revealed a torn ulnar collateral ligament of the thumb that was displaced proximal to the adductor aponeurosis, consistent with a Stener lesion. Dynamic imaging with ultrasound confirmed displacement of the fully torn ligament. Surgical repair followed the diagnosis. Diagnostic ultrasound in this case provided an accurate diagnosis obviating further imaging. This allowed an optimal outcome due to early intervention. PMID:27298646

  4. [Differential sonographic diagnosis. Pancreas (pseudo) cyst--choledochus cyst].

    PubMed

    Brockmann, W P; Klapdor, R; Kremer, B

    1984-10-01

    The case of a woman patient with an extended prepapillary choledochal cyst and pancreaticobiliary reflux shows that it is necessary to consider the possibility of a choledochal cyst on detecting a cystic structure in the head of the pancreas (condition after acute pancreatitis); besides this, differential diagnosis will have to consider a pancreatic pseudocyst, hydrops of the gallbladder, a retroperitoneal cyst or even vascular aneurysm. If necessary, the physician should take suitable diagnostic measures before performing any percutaneous cyst drainage which he may have planned, since this may entail the risk of biliary peritonitis.

  5. [Polish Gynaecological Society guideline on prenatal diagnosis].

    PubMed

    2009-05-01

    Prenatal diagnosis is a multidisciplinary issue where obstetricians, geneticists, neonatologists and doctors representing other specialities are involved. The guideline will provide up-to-date information, based on clinical evidence optimal techniques and timing, training and competence and clinical governance issues. Prenatal screening for chromosomal defects should be performed in concordance with Polish Gynaecological Society guidelines and recommendations on antenatal care, ultrasound in pregnancy and fetal therapy, and Fetal Medicine Foundation (London, UK) rules. There is no doubt that maternal age alone as a method of screening for chromosomal abnormalities should be abandoned as it has low Detection Rate with high False Positive Rate hence high Invasive Procedure Rate and unnecessary high pregnancy loss rate. The Working Party recommends that screening methods based on ultrasound examination at 11(+0)-13(+6) wks and maternal serum biochemistry should be implemented. Special attention must be paid to ensure that sufficiently high Detection Rate is achieved (at least 75% for 5% False Positive Rate) in screening for trisomy 21. PMID:19548462

  6. Prenatal diagnosis and the trouble with eugenics.

    PubMed

    Landeweerd, Laurens

    2009-01-01

    In the past few years we have witnessed huge steps forwards in reproductive technology. Specifically genetic diagnosis has created a range of possibilities. This carries along benefits for prenatal care as well as carrying along unprecedented ethical dilemmas that demonstrate some more problematic sides of several basic notions in medical ethics. These new technologies also led to a widespread public ethical debate on the desirability of these technologies. Concerns are felt specifically with the potential eugenic application of these technologies. To have a correct overview of the possibilities to a new eugenics, one needs to explore the actual developments in the field of human genetics in recent years. This is important to avoid deviating from what is actually occurring into the realm of science fiction.

  7. Prenatal Diagnosis and Postnatal Follow-up of congenitally corrected transposition of the great arteries and recurrent supraventricular tachycardia

    PubMed Central

    Kibar, AE; Hallioglu, O; Erdem, S; Celik, I

    2013-01-01

    The prenatal sonographic diagnosis of congenitally corrected transposition of the great arteries (ccTGA), a rare form of congenital heart disease is very difficult. A24-year-old woman was referred to our center at 28 weeks’ gestationbecause of suspected fetal cardiac anomalies. We report a case of ccTGA with supraventricular tachycardia, ventricular septal defect, pulmonary valve stenosis, tricuspid valvar displacement and moderate tricuspid regurgitation during her pregnancy. The combined presence of SVT and ccTGA are occasionally present in the literature. PMID:23720695

  8. Prenatal diagnosis of osteochondrodysplasias in high risk pregnancy.

    PubMed

    Gordienko IYu; Grechanina EYa; Sopko, N I; Tarapurova, E N; Mikchailets, L P

    1996-05-01

    We collected data on 39 prenatally diagnosed osteochondrodysplasias. We detected 30 (76.9%) cases in the first and second trimesters, including 18 (46.2%) with two twins before the 24th week of gestation. Of 39 cases 11 (28.2%) had osteogenesis imperfecta (OI) type II. Verification of the prenatal diagnosis was attempted in 26 cases on the basis of the data obtained from ultrasonographs, radiographs, external examination, and autopsy protocols. The prenatal diagnosis was confirmed in 19 (73%) fetuses. In 13 cases verification was not possible because one or several investigations could not be performed. Counselling followed all identified cases with osteochondrodysplasia. We present the pedigree of two families indicating the possibility of early prenatal diagnosis of achondrogenesis type I and metatropic dysplasia. We propose indications for ultrasonographic anatomical screening with subsequent phenotype analysis in high risk pregnancy to provide for the prenatal detection of malformations and hereditary diseases. PMID:8723093

  9. [Toxoplasmosis in pregnancy: prevention, prenatal diagnosis and treatment].

    PubMed

    Hohlfeld, P; Biedermann, K; Extermann, P; Gyr, T

    1995-01-01

    Maternal infection with Toxoplasma gondii acquired during pregnancy occurs in more than 500 women per year in Switzerland. Systematic screening at the beginning of pregnancy allows the introduction of health education programs. The screening during pregnancy is performed to diagnose primary maternal infections and to propose prenatal diagnosis and treatment. The administration of specific antibiotherapy during pregnancy (spiramycine or the association of pyrimethamine and sulfonamides) significantly reduces the risk of fetal infection. Prenatal diagnosis of congenital toxoplasmosis is possible and reliable. It avoids unnecessary termination of pregnancy when the fetus is not infected and specific therapy in case of infection (association of pyrimethamine and sulfonamides). Prenatal treatment may be proposed without prenatal diagnosis as of the 16th week of gestation. In any case, prenatal treatment seems to reduce the incidence of severe congenital toxoplasmosis.

  10. The role of FISH in prenatal diagnosis

    SciTech Connect

    Kulch, P.; Crandall, B.F.; Hsi, C.

    1994-09-01

    FISH provides a cytogenetic technique which is useful in defining de novo translocations, deletions, insertions, and marker chromosomes in prenatal diagnosis. While the cytogenetic interpretation may be improved with FISH, it may not resolve questions concerning prognosis and options which are genetic counseling issues. Two recent cases illustrate this. Case 1 involved a 45,X/46,X,+mar karyotype from amniocentesis. 22/50 cells had 46,X/46,X+mar; 28/50 cells had 45,X. The marker was smaller than a G. C banding did not confirm this as a Y. The father`s peripheral blood study was normal and his Y did not resemble the marker. It appeared likely that the marker was a structurally abnormal Y since male external genitalia were detected by fetal ultrasound. FISH using alpha- and classical (DYZ1/DYZ3) satellite Y-specific probes did not identify the marker as a Y. Case 2 was a fetus which had a de novo translocation 46,XX,t(3;11)(q26.3;q21) by amniocentesis and confirmed by UBS. FISH for the number 3 and 11 chromosomes confirmed this rearrangement. The parents were advised of the risk associated with a de novo balanced translocation. The possible prognosis for these two different fetuses was not changed by the FISH analysis. FISH, while helpful, is only one aspect of the studies done to provide more accurate genetic counseling to parents; the pregnancy/family history, fetal ultrasound, other possible prenatal studies and pregnancy outcome from perspective studies compose other important aspects that are not mutually exclusive.

  11. First trimester prenatal diagnosis: earlier is not necessarily better.

    PubMed Central

    Boss, J A

    1994-01-01

    In the past few years considerable attention has been given to a relatively new method of prenatal diagnosis known as chorionic villus sampling (CVS). Because CVS can be performed in the first trimester it is hailed by many as a significant advance over amniocentesis. What has not been as publicized, however, are the disadvantages of CVS and earlier prenatal diagnosis. The emotional costs of CVS in terms of the greater number of both spontaneous and selective abortions following CVS, the use of CVS for sex selection and, because of the greater social acceptability of first trimester abortion, the possibility of increased pressure on women to undergo prenatal diagnosis by health insurance companies, medical professionals and government agencies, all need to be weighed against the advantages of early prenatal diagnosis. PMID:7996559

  12. Prenatal and pre-implantation genetic diagnosis.

    PubMed

    Vermeesch, Joris Robert; Voet, Thierry; Devriendt, Koenraad

    2016-09-15

    The past decade has seen the development of technologies that have revolutionized prenatal genetic testing; that is, genetic testing from conception until birth. Genome-wide single-cell arrays and high-throughput sequencing analyses are dramatically increasing our ability to detect embryonic and fetal genetic lesions, and have substantially improved embryo selection for in vitro fertilization (IVF). Moreover, both invasive and non-invasive mutation scanning of the genome are helping to identify the genetic causes of prenatal developmental disorders. These advances are changing clinical practice and pose novel challenges for genetic counselling and prenatal care. PMID:27629932

  13. Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants

    PubMed Central

    Quartermain, Michael D.; Pasquali, Sara K.; Hill, Kevin D.; Goldberg, David J.; Huhta, James C.; Jacobs, Jeffrey P.; Jacobs, Marshall L.; Kim, Sunghee; Ungerleider, Ross M.

    2016-01-01

    Background Prenatal diagnosis allows for improved peri-operative outcomes of fetuses with certain forms of congenital heart disease (CHD). Variability in prenatal diagnosis has been demonstrated in other countries, leading to efforts to improve fetal imaging protocols and access to care, but has not been examined across the United States. Objective To evaluate national variation in prenatal detection across geographic region and defect type in neonates and infants with CHD undergoing heart surgery. Methods Cardiovascular operations performed in patients ≤ 6 months of age within the United States and included in the STS-CHS Surgical Database (2006–2012) were eligible for inclusion. Centers with >15% missing prenatal diagnosis data were excluded from the study. Prenatal diagnosis rates were compared across geographic location of residence and defect type using the Chi-square test. Results Overall, the study included 31,374 patients from 91 STS-CHS participating centers across the United States. Prenatal detection occurred in 34% and increased every year from 26% (2006) to 42% (2012). There was significant geographic variation in rates of prenatal diagnosis across states (range 11.8 – 53.4%, p < 0.0001). Significant variability by defect type was also observed with higher rates for lesions identifiable on 4-chamber view versus those requiring outflow tract visualization (57% versus 32%, p < 0.0001). Conclusions Rates of prenatal CHD detection in the United States remain low for patients undergoing surgical intervention, with significant variability between states and across defect type. Further studies are needed to identify reasons for this variation and the potential impact on patient outcomes. PMID:26216324

  14. Prenatal diagnosis of a bronchogenic cyst in an unusual site.

    PubMed

    Bagolan, P; Bilancioni, E; Nahom, A; Trucchi, A; Inserra, A; Neri, M; Spina, V; Giorlandino, C

    2000-01-01

    We report a rare case of a subdiaphragmatic cyst, diagnosed prenatally during routine ultrasound screening at 25 weeks' gestation. Serial ultrasonographic evaluation demonstrated a slight increase in the size of the cyst during pregnancy. On the basis of the anatomic site and the sonographic features of the lesion, four diagnostic hypotheses were postulated: cystic neuroblastoma, adrenal hemorrhage, duplication of the inferior third of the esophagus and retroperitoneal cystic lymphangioma. A healthy baby, weighing 3300 g and with Apgar scores of 8 and 9, was delivered vaginally at term. He underwent successful surgery at the age of 3 months. The post-operative course was uneventful and the baby is currently doing well. Histology revealed a bronchogenic cyst.

  15. Structural chromosomal anomalies detected by prenatal genetic diagnosis: our experience.

    PubMed

    Farcaş, Simona; Crişan, C D; Andreescu, Nicoleta; Stoian, Monica; Motoc, A G M

    2013-01-01

    The prenatal diagnosis is currently widely spread and facilitates the acquiring of important genetic information about the fetus by a rate extremely accelerate and considered without precedent. In this paper, we like to present our experience concerning the genetic diagnosis and counseling offered for pregnancies in which a structural chromosomal aberration was found. The study group is formed by 528 prenatal samples of amniotic fluid and chorionic villi, received by our laboratory from 2006 through October 2012 for cytogenetic diagnosis. The appropriate genetic investigation was selected based on the indications for prenatal diagnosis. The cases with structural chromosomal anomalies and polymorphic variants were analyzed as regard to the maternal age, gestational age, referral indications and type of chromosomal anomaly found. A total number of 21 structural chromosomal anomalies and polymorphic variants were identified in the study group. Out of 21 structural chromosomal anomalies and polymorphic variants, six deletions and microdeletions, four situations with abnormal long "p" arm of acrocentric chromosomes, two duplications, two reciprocal translocations, two inversions, two additions, one Robertsonian translocation associating trisomy 13, one 9q heteromorphism and one complex chromosome rearrangement were noticed. To the best of our knowledge, this is the first Romanian study in which the diagnostic strategies and the management of the prenatal cases with structural rearrangements are presented. The data provided about the diagnosis strategy and the management of the prenatal cases with structural chromosomal anomalies represents a useful tool in genetic counseling of pregnancies diagnosed with rare structural chromosomal anomalies. PMID:23771085

  16. [Prenatal diagnosis of fetal heterotaxy syndromes: report of two cases and review of the literature].

    PubMed

    Martínez-Ceccopieri, David Alejandro; Barrios-Prieto, Ernesto; González -Gallo, Luz; Panduro-Barón, Gallo Guadalupe; Fajardo-Dueñas, Sergio

    2014-11-01

    We describe the prenatal sonographic findings in two cases of fetal heterotaxy syndrome evaluated at the Maternal Fetal Medicine Unit of a tertiary hospital over a period of one year and present a review of the literature on the subject. PMID:25826959

  17. Prenatal diagnosis of Gaucher disease using next-generation sequencing.

    PubMed

    Yoshida, Shinichiro; Kido, Jun; Matsumoto, Shirou; Momosaki, Ken; Mitsubuchi, Hiroshi; Shimazu, Tomoyuki; Sugawara, Keishin; Endo, Fumio; Nakamura, Kimitoshi

    2016-09-01

    In the prenatal diagnosis of Gaucher disease (GD), glucocerebrosidase (GBA) activity is measured with fetal cells, and gene analysis is performed when pathogenic mutations in GBA are identified in advance. Herein is described prenatal diagnosis in a family in which two children had GD. Although prior genetic information for this GD family was not obtained, next-generation sequencing (NGS) was carried out for this family because immediate prenatal diagnosis was necessary. Three mutations were identified in this GD family. The father had one mutation in intron 3 (IVS2 + 1), the mother had two mutations in exons 3 (I[-20]V) and 5 (M85T), and child 1 had all three of these mutations; child 3 had none of these mutations. On NGS the present fetus (child 3) was not a carrier of GD-related mutations. NGS may facilitate early detection and treatment before disease onset. PMID:27682613

  18. Prenatal diagnosis of Gaucher disease using next-generation sequencing.

    PubMed

    Yoshida, Shinichiro; Kido, Jun; Matsumoto, Shirou; Momosaki, Ken; Mitsubuchi, Hiroshi; Shimazu, Tomoyuki; Sugawara, Keishin; Endo, Fumio; Nakamura, Kimitoshi

    2016-09-01

    In the prenatal diagnosis of Gaucher disease (GD), glucocerebrosidase (GBA) activity is measured with fetal cells, and gene analysis is performed when pathogenic mutations in GBA are identified in advance. Herein is described prenatal diagnosis in a family in which two children had GD. Although prior genetic information for this GD family was not obtained, next-generation sequencing (NGS) was carried out for this family because immediate prenatal diagnosis was necessary. Three mutations were identified in this GD family. The father had one mutation in intron 3 (IVS2 + 1), the mother had two mutations in exons 3 (I[-20]V) and 5 (M85T), and child 1 had all three of these mutations; child 3 had none of these mutations. On NGS the present fetus (child 3) was not a carrier of GD-related mutations. NGS may facilitate early detection and treatment before disease onset.

  19. Hemifacial microsomia with spinal and rib anomalies: prenatal diagnosis and postmortem confirmation using 3-D computed tomography reconstruction.

    PubMed

    Haratz, Karina; Vinkler, Chana; Lev, Dorit; Schreiber, Letizia; Malinger, Gustavo

    2011-01-01

    Hemifacial microsomia (OMIM164210) is a condition featuring unilateral ear anomalies and ocular epibulbar dermoids associated with unilateral underdevelopment of the craniofacial bony structures. Other associated anomalies have also been described, especially spinal malformations, and the term oculoauriculovertebral dysplasia spectrum (OVAS) was suggested to include the three predominant systems involved. Both genetic and environmental causes are implied in the pathogenesis of the syndrome, with a 3% recurrence rate according to reports of both vertical transmission and affected siblings. No specific gene was identified, albeit mutations in chromosome 10 and deficiencies of genes in the endothelin pathway in mice exhibited the same clinical features. We hereby describe the first case of prenatal diagnosis of spinal and rib malformations associated to hemifacial microsomia by means of 2-D and 3-D ultrasound in a 23-week fetus. The sonographic study depicted fetal scoliosis due to the presence of hemivertebrae, Sprengel's deformity of the left shoulder, ribs fusion, asymmetric ears with unilateral microtia, mandible unilateral hypoplasia as well as single umbilical artery and a 'golf ball' sign in the left ventricle of the heart. The diagnosis of OVAS was suggested and the family received proper genetic consultation. After termination of the pregnancy, the syndrome was confirmed by postmortem 3-D computed tomography study. In view of the grim outcome, prenatal death rate and high mortality and morbidity when three or more systems are involved, prenatal diagnosis and appropriate counseling are warranted.

  20. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

    PubMed Central

    Perez-Carbajo, Esther; Sanfrutos-Llorente, Luis; Cruz-Melguizo, Sara; Martinez-Payo, Cristina; Iglesias-Goy, Enrique

    2015-01-01

    Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality. PMID:25789188

  1. Structural chromosomal mosaicism and prenatal diagnosis.

    PubMed

    Pipiras, E; Dupont, C; Chantot-Bastaraud, S; Siffroi, J P; Bucourt, M; Batallan, A; Largillière, C; Uzan, M; Wolf, J P; Benzacken, B

    2004-02-01

    True structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low-set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed. PMID:14974115

  2. Prenatal Depression: Best Practice Guidelines for Diagnosis and Treatment

    ERIC Educational Resources Information Center

    Choate, Laura H.; Gintner, Gary G.

    2011-01-01

    The purpose of this article is to provide counselors with an overview of best practices for the treatment of women who experience prenatal depression (PND). The authors first discuss issues in the screening and diagnosis of PND. Next, the 2 most common treatments, antidepressants and psychotherapy, are reviewed and discussed in relation to current…

  3. Sonographic Diagnosis of Fetal Adrenal Hemorrhage Complicating a Vein of Galen Aneurysmal Malformation

    PubMed Central

    Kütük, Mehmet Serdar; Doğanay, Selim; Özdemir, Ahmet; Görkem, Süreyya Burcu; Öztürk, Adnan

    2016-01-01

    Background: The vein of Galen aneurysmal malformation (VGAM) is a rare intracranial vascular malformation which causes end-organ ischemia or venous congestion due to heart failure. Adrenal hemorrhage associated with VGAM has not been reported in the literature. We present the imaging findings of a fetal VGAM with adrenal hemorrhage. Case Report: A 26 year-old primigravida woman whose fetus with VGAM and mild cardiomegaly was scanned in the 34th week. On fetal ultrasound, a hyperechoic, well-circumscribed mass in the left suprarenal region was shown. Fetal and postnatal magnetic resonance imaging confirmed the diagnosis of adrenal hemorrhage. The baby died after delivery. Conclusion: Adrenal hemorrhage can complicate VGAM in fetuses with severe heart failure. Evaluation of the adrenal gland in affected cases may contribute to the prenatal counseling, and postnatal management. PMID:26966627

  4. Prenatal diagnosis of ductus arteriosus aneurysm.

    PubMed

    Ganesan, S; Hutchinson, D P; Sampson, A J

    2015-11-01

    The ductus arteriosus holds major functional importance within the fetal circulation, and anomalies within the ductus arteriosus may interfere with the integrity of the fetal circulation. Ductus arteriosus aneurysm, previously considered a rare lesion, is now a well-reported finding in infancy with some reports describing this finding in the prenatal period. Postnatally, most ductus arteriosus aneurysms resolve spontaneously; however, a small group of infants show complications such as connective-tissue disorders, thrombo-embolism, compression of surrounding thoracic structures and life-threatening spontaneous rupture requiring surgical correction. As such, postnatal assessment in this group is recommended. PMID:27433265

  5. Prenatal diagnosis of Chudley-McCullough syndrome.

    PubMed

    Chapman, Teresa; Perez, Francisco A; Ishak, Gisele E; Doherty, Dan

    2016-09-01

    Chudley-McCullough syndrome (CMS) is an autosomal-recessive disorder characterized by a complex brain malformation and profound congenital sensorineural hearing loss. Postnatal brain imaging findings include ventriculomegaly, partial agenesis of corpus callosum, inferior cerebellar dysplasia, arachnoid cysts, and malformations of cortical development including frontal subcortical heterotopia and polymicrogyria. Prenatal diagnosis of CMS is important due to the markedly less severe neurodevelopmental prognosis compared to disorders with similar brain imaging findings. We report prenatal imaging features that help distinguish CMS from other disorders, including slit-like frontal horns, agenesis of the corpus callosum, frontal subcortical heterotopia, arachnoid cysts, and cerebellar dysplasia. © 2016 Wiley Periodicals, Inc. PMID:27312216

  6. Prenatal Diagnosis of Down Syndrome: Mothers' Reflections on Supports Needed from Diagnosis to Birth.

    ERIC Educational Resources Information Center

    Helm, David T.; Miranda, Sara; Chedd, Naomi Angoff

    1998-01-01

    A qualitative study of 10 mothers who received a prenatal diagnosis of Down syndrome and chose to continue their pregnancy examined how the diagnosis was presented, the decision to continue the pregnancy, and the mothers' experiences with professionals from diagnosis to delivery. Mothers' suggestions to others facing the same challenges and to…

  7. Sonographic diagnosis of a viable abdominal pregnancy with planned delivery after fetal lung maturation.

    PubMed

    Kim, Mi Ju; Bae, Jin Young; Seong, Won Joon; Lee, Yoon Soon

    2013-01-01

    We report a case of a viable abdominal pregnancy with successful outpatient management until fetal lung maturation and planned delivery. Advanced abdominal pregnancy is a very rare extrauterine pregnancy, which results in serious maternal and fetal morbidity. A 28-year-old nullipara was referred from the local clinic to our tertiary center at 18 weeks' gestation. We diagnosed an extrauterine fetus on sonographic examination. The patient had weekly antenatal sonographic examinations. We performed a planned laparotomy at 34 weeks' gestation, and a female baby weighing 2,100 g was delivered. The placenta was completely removed and the uterus was preserved. Both the mother and the baby had no postoperative morbidity.

  8. Cell-Free Fetal DNA Testing for Prenatal Diagnosis.

    PubMed

    Drury, S; Hill, M; Chitty, L S

    2016-01-01

    Prenatal diagnosis and screening have undergone rapid development in recent years, with advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) for Down syndrome as a highly sensitive screening test is now available worldwide through the commercial sector with many countries moving toward implementation into their publically funded maternity systems. Noninvasive prenatal diagnosis (NIPD) can now be performed for definitive diagnosis of some recessive and X-linked conditions, rather than just paternally inherited dominant and de novo conditions. NIPD/T offers pregnant couples greater choice during their pregnancy as these safer methods avoid the risk of miscarriage associated with invasive testing. As the cost of sequencing falls and technology develops further, there may well be potential for whole exome and whole genome sequencing of the unborn fetus using cell-free DNA in the maternal plasma. How such assays can or should be implemented into the clinical setting remain an area of significant debate, but it is clear that the progress made to date for safer prenatal testing has been welcomed by expectant couples and their healthcare professionals. PMID:27645814

  9. Prenatal diagnosis and fetopathological investigation of dorsolumbosacral agenesis.

    PubMed

    Nagy, Gyula Richárd; Csapó, Zsolt; Barakonyi, Emese; Nagy, Bálint; Rigó, János

    2009-01-01

    Sacral and lumbosacral spine agenesis, as characteristic signs of a rare congenital malformation--caudal regression syndrome--has been well described. However, dorsolumbosacral agenesis involving the lower thoracic, lumbar, and sacral vertebrae has rarely been reported, and prenatal diagnosis of this severe form has not been published yet. A 37-year-old woman (gravida 2, para 0) who had diabetes mellitus asked for termination of her pregnancy, because second-trimester ultrasound screening showed dorsolumbosacral agenesis of the fetus. Fetopathological examination confirmed the prenatal diagnosis and showed that the lower seven thoracic and all lumbosacral segments were absent. The noticed small "bony" structure in the lumbar region supported the idea that caudal regression syndrome can be regarded as a "multisegmental" spinal dysgenesis that involves the caudal part of the spine. Reliable prenatal diagnosis of dorsolumbosacral agenesis is possible by second-trimester ultrasound. The prenatal sonologist should always try to look for and assess abnormalities during examinations. Emphasis should be placed especially on those types that have a higher risk of being present in the fetus because of the known risk factors in the particular pregnancy. Fetopathological examination emphasized the suggestion that segmental spinal dysgenesis and caudal regression syndrome may represent two faces of a single spectrum of segmental malformations of the spine and spinal cord. PMID:19185430

  10. Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

    PubMed

    Christiano, A M; Pulkkinen, L; McGrath, J A; Uitto, J

    1997-04-01

    Epidermolysis bullosa (EB) is a group of heritable diseases which manifest with blistering and erosions of the skin and mucous membranes. Due of life-threatening complications and significant long-term morbidity associated with the severe, neonatal lethal (Herlitz) form of junctional EB (H-JEB), there has been a demand for prenatal diagnosis from families at risk for recurrence. Previously, the only reliable method of prenatal diagnosis of EB was a fetal skin biopsy performed at 16-20 weeks' gestation and analysed by electron microscopy. Recently, the genes LAMA3, LAMB3, and LAMC2, encoding the polypeptide subunits of laminin 5, an anchoring filament protein, have been shown to contain mutations in H-JEB. In this study, direct detection of pathogenetic mutations in the laminin 5 genes was used to perform polymerase chain reaction (PCR)-based prenatal testing. DNA was obtained by chorionic villus sampling (CVS) at 10-15 weeks or amniocentesis at 12-19 weeks' gestation in 15 families at risk for recurrence of JEB. In 13 cases, the fetus was predicted to be either genetically normal or a clinically unaffected carrier of a mutation in one allele. These predictions have been validated in all cases by the birth of a healthy child. In two cases, an affected fetus was predicted, and the diagnosis was confirmed by subsequent fetal skin biopsy. These results demonstrate that DNA-based prenatal testing offers an early, expedient, and accurate method of prenatal diagnosis or an exclusion of Herlitz JEB. PMID:9160387

  11. Mosaicism and uniparental disomy in prenatal diagnosis.

    PubMed

    Eggermann, Thomas; Soellner, Lukas; Buiting, Karin; Kotzot, Dieter

    2015-02-01

    Chromosomal mosaicism is the presence of numerous cell lines with different chromosomal complements in the same individual. Uniparental disomy (UPD) is the inheritance of two homologous chromosomes from the same parent. These genetic anomalies arise from errors in meiosis and/or mitosis and can occur independently or in combination. Due to the formation mechanisms of UPD, low-level or undetected mosaicisms are assumed for a significant number of UPD cases. The pre- and postnatal clinical consequences of mosaicism for chromosomal aberrations and/or UPD depend on the gene content of the involved chromosome. In prenatal evaluation of chromosomal mosaicism and UPD, genetic counseling should be offered before any laboratory testing. PMID:25547535

  12. Prenatal screening and prenatal diagnosis: contemporary practices in light of the past.

    PubMed

    Iltis, Ana S

    2016-06-01

    The 20th century eugenics movement in the USA and contemporary practices involving prenatal screening (PNS), prenatal diagnosis (PND), abortion and preimplantation genetic diagnosis (PGD) share important morally relevant similarities. I summarise some features of the 20th century eugenics movement; describe the contemporary standard of care in the USA regarding PNS, PND, abortion and PGD; and demonstrate that the 'old eugenics' the contemporary standard of care share the underlying view that social resources should be invested to prevent the birth of people with certain characteristics. This comparison makes evident the difficulty of crafting moral arguments that treat some uses of PNS, PND, abortion and PGD as licit and others as illicit. PMID:27161556

  13. Prenatal diagnosis of congenital myopathies and muscular dystrophies.

    PubMed

    Massalska, D; Zimowski, J G; Bijok, J; Kucińska-Chahwan, A; Łusakowska, A; Jakiel, G; Roszkowski, T

    2016-09-01

    Congenital myopathies and muscular dystrophies constitute a genetically and phenotypically heterogeneous group of rare inherited diseases characterized by muscle weakness and atrophy, motor delay and respiratory insufficiency. To date, curative care is not available for these diseases, which may severely affect both life-span and quality of life. We discuss prenatal diagnosis and genetic counseling for families at risk, as well as diagnostic possibilities in sporadic cases. PMID:27197572

  14. Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors.

    PubMed

    Devers, Patricia L; Cronister, Amy; Ormond, Kelly E; Facio, Flavia; Brasington, Campbell K; Flodman, Pamela

    2013-06-01

    The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers' efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.

  15. Prenatal diagnosis and telemedicine consultation of fetal urologic disorders.

    PubMed

    Rabie, Nader Z; Canon, Stephen; Patel, Ashay; Zamilpa, Ismael; Magann, Everett F; Higley, Jared

    2016-06-01

    In Arkansas, telemedicine is used commonly in obstetrics through Antenatal and Neonatal Guidelines, Education and Learning System (ANGELS), the existing statewide telemedicine network. This network is used primarily for tele-ultrasound and maternal-fetal medicine consultation. This study is a retrospective case series, describing all the patients who had a prenatally diagnosed urologic anomaly that required prenatal urologic consultation. From 2009-2013, approximately 1300 anomalies were recorded in the Arkansas Fetal Diagnosis and Management (AFDM) database, 14% of which were urologic anomalies. Twenty-six cases required prenatal urologic consultation, 25 of which were conducted via telemedicine. Teleconsultation allowed patients to combine maternal-fetal medicine and urologic consultations in one visit, saving time and effort and ultimately, for most patients, providing reassurance that delivery could be accomplished locally with postnatal follow-up already arranged. While there are several studies reporting the use of telemedicine for various subspecialty consultations, to our knowledge, this is the first to describe the use of telemedicine for prenatal urology consultation. Future research could randomize patients prospectively to allow comparison of both the outcomes as well as the patient experience.

  16. Ultrasound Prenatal Diagnosis of Inguinal Scrotal Hernia and Contralateral Hydrocele

    PubMed Central

    Massaro, G.; Sglavo, G.; Cavallaro, A.; Pastore, G.; Nappi, C.; Di Carlo, C.

    2013-01-01

    Fetal inguinal scrotal hernia is a rare condition resulting in an abnormal embryonic process of the tunica vaginalis. We report a case of ultrasound prenatal diagnosis of inguinal scrotal hernia associated with contralateral hydrocele in a woman at 37 weeks of gestation, referred to our clinic for a scrotal mass. Differential diagnosis includes hydrocele, teratoma, hemangiomas, solid tumours of testis, bowel herniation, and testicular torsion. Bowel peristalsis is an important ultrasound sign and it allowed us to make diagnosis of inguinal scrotal hernia. Diagnosis was confirmed at birth and a laparoscopic hernia repair was performed without complications on day 10. During surgery, a bilateral defect of canal inguinal was seen and considered as the cause of scrotal inguinal hernia and contralateral hydrocele observed in utero. PMID:24455356

  17. Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

    PubMed Central

    2016-01-01

    Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and osteochondral spurs led to the diagnosis of hypophosphatasia congenita. The pregnancy was terminated, and the findings were confirmed on autopsy. Common differential diagnoses with clues to diagnose the above mentioned condition have been discussed here. Early and accurate detection of this medical condition is important as no treatment has been established for this condition. Therefore, antenatal ultrasonography helps in diagnosing and decision making with respect to the current pregnancy and lays the foundation for the genetic counseling of the couple. PMID:25971898

  18. Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma.

    PubMed

    Wong, Felix C K; Lo, Y M Dennis

    2016-01-01

    Noninvasive prenatal testing (NIPT) is accomplished by analysis of circulating cell-free fetal nucleic acids in maternal plasma. The advent of massively parallel sequencing (MPS) has enabled NIPT of chromosomal aneuploidies with unprecedented robustness, and these tests are now widely available for clinical use. Moreover, MPS-based NIPT of subchromosomal deletions/duplications and single-gene disorders has also been achieved, and the number of applications is growing. In addition to specific fetal genetic disorders, the whole fetal genome, transcriptome, and methylome have been revealed by deep sequencing of maternal plasma. The analysis of the fetal transcriptome and methylome may yield valuable information on fetal and maternal health. With continued improvement in sequencing technology and reduction in sequencing costs, the analysis of cell-free nucleic acids would play an increasingly important role in prenatal screening, diagnosis, monitoring, and risk stratification of fetal as well as maternal conditions. PMID:26473414

  19. Neural tube defects: issues in prenatal diagnosis and counselling.

    PubMed

    Main, D M; Mennuti, M T

    1986-01-01

    Neural tube defects are a heterogeneous group of malformations resulting from failure of neural tube closure during early embryogenesis. They range widely in severity from the lethal condition of anencephaly, to severely disabling meningomyeloceles, to completely surgically correctable meningoceles. Occurring in 1.4 to 1.6 per 1000 live births, neural tube defects rank second only to cardiac abnormalities as a cause of major congenital malformations in the United States. Technical developments over the past decade have enabled better detection of these conditions prenatally. Understanding of the etiology, neonatal treatment, and potential prevention of neural tube defects is increasing. Further, the ethical issues of treatment and screening are being widely discussed in both news magazines and the Congressional Record. Thus, it is timely to review this important area of prenatal counselling, diagnosis, and management.

  20. Progressive neuronal degeneration of childhood: prenatal diagnosis by MRI.

    PubMed

    de Laveaucoupet, Jocelyne; Roffi, Fabio; Audibert, François; Guis, Françoise; Lacroix, Catherine; Villeneuve, Nathalie; Landrieu, Pierre; Labrune, Philippe

    2005-04-01

    We report two cases in the same family of progressive neuronal degeneration of childhood--Alpers syndrome--with prenatal MRI findings in one case. The first infant presented at birth with severe microcephaly, then rapidly evolved to progressive encephalopathy with refractory epilepsy, leading to death at 10 months. Biochemical investigations including liver function tests were normal. CT and MRI showed severe diffuse brain atrophy. The diagnosis of progressive neuronal degeneration of childhood was made on the clinical and imaging data. The second pregnancy was marked by gradual decrease of fetal cerebral biometry and a prenatal MRI performed at 32 weeks showed diffuse cortical atrophy, as observed in the sibling. The infant died at 5 months. Neuropathological findings were consistent with Alpers syndrome. PMID:15852481

  1. Whole genome amplification from single cells in preimplantation genetic diagnosis and prenatal diagnosis.

    PubMed

    Peng, Wen; Takabayashi, Haruo; Ikawa, Kazumi

    2007-03-01

    The literature on whole genome amplification (WGA) techniques and their application to preimplantation genetic diagnosis (PGD) and prenatal diagnosis is reviewed. General polymerase chain reaction (PCR) fails to provide adequate information from limited cells in PGD and non-invasive prenatal diagnosis. Therefore several WGA techniques, such as primer extension preamplification (PEP) and degenerate oligonucleotide primed PCR (DOP-PCR), have been developed and successfully applied to clinical work during the past decade, especially in PGD and prenatal diagnosis. These techniques can provide ample amplification of genetic sequences from single cells for a series of subsequent PCR analyses such as restriction fragment length polymorphisms (RFLP) and comparative genomic hybridization (CGH), thus opening up a new area for prenatal diagnosis. However, several problems have been reported in the application of these techniques. The ideal WGA technique should have high yield, faithful representation of the original template, complete coverage of the genome, and simply performed procedure. In order to make good use of these techniques in future research and clinical work, it is undoubtedly necessary for an extensive understanding of the merits and pitfalls of these recently developed techniques.

  2. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

    PubMed

    Suzumori, Nobuhiro; Kaname, Tadashi; Muramatsu, Yukako; Yanagi, Kumiko; Kumagai, Kyoko; Mizuno, Seiji; Naritomi, Kenji; Saitoh, Shinji; Sugiura-Ogasawara, Mayumi

    2013-11-01

    Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning.

  3. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

    PubMed

    Suzumori, Nobuhiro; Kaname, Tadashi; Muramatsu, Yukako; Yanagi, Kumiko; Kumagai, Kyoko; Mizuno, Seiji; Naritomi, Kenji; Saitoh, Shinji; Sugiura-Ogasawara, Mayumi

    2013-11-01

    Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning. PMID:23815237

  4. Using fetal cells for prenatal diagnosis: History and recent progress.

    PubMed

    Beaudet, Arthur L

    2016-06-01

    The potential to use fetal cells in the mother's circulation during the first or second trimester for prenatal diagnosis was described in 1968, but it has not been possible do develop a routine clinical prenatal test despite extensive commercial and academic research efforts. Early attention focused on the detection of aneuploidy, but more recent technology opens the possibility of high resolution detection of copy number abnormalities and even whole genome or exome sequencing to detect both inherited and de novo mutations. In the interim, cell-free noninvasive prenatal testing NIPT has allowed improved detection of aneuploidy, but this has led to a sharp reduction in the number of amniocentesis and chorionic villus sampling (CVS) procedures, which inevitably implies reduced detection of serious de novo deletion abnormalities. Attention has focused of both fetal nucleated red blood cells (fnRBCs) and trophoblasts. Recent progress presented at meetings, but not yet published, suggests that it will soon be possible to perform genome-wide relatively high resolution detection of deletions and duplications by recovering fetal trophoblasts during the first trimester and analyzing them by whole gene genome amplification followed by copy number analysis using arrays or next generation sequencing. © 2016 Wiley Periodicals, Inc. PMID:27133782

  5. Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis.

    PubMed

    Wataganara, Tuangsit; Sutanthavibool, Anuwat; Limwongse, Chanin

    2006-10-01

    Generalized shortening of fetal long bones detected from prenatal sonographic examination usually raise a tentative diagnosis of skeletal dysplasia. Information obtained from grey-scale scan is frequently not sufficient to provide a definite diagnosis, and the images are not readily comprehensible for the parents-to-be. Lately, three-dimensional sonography has become increasing available in obstetric practice. The authors report here a rare case of fetal achondrogenesis, which is a lethal form of skeletal dysplasia, in a 30-week-old fetus using real-time three-dimensional ultrasound. The prenatal findings of fetal achondrogenesis from this technique were thoroughly described, along with postnatal radiography and autopsy results. Sonographic features from this imaging technique allow for an accurate diagnosis and better understanding of the parents. This facilitates the genetic counseling process, as well as the parental options for further care. PMID:17128855

  6. Prenatal diagnosis, selective abortion, and the Abortion (Amendment) Bill.

    PubMed

    Laurence, K M

    1980-02-01

    The rapid development of early prenatal diagnostic tests for some fetal malformations and abnormalities and the introduction of this approach to malformation into clinical practice in most areas of the United Kingdom has, to a great extent, been made possible by the 1967 Abortion Act. Although at least 30 of every 1000 pregnancies will end in a seriously malformed infant with reduced survival, or survival with impaired quality of life, only less than 1/3 of these abnormal fetuses are currently amenable to early antenatal detection. Yet, it has been estimated that about 10% of all pregnancies can be identified as having a risk of 1 of these detectable abnormalities of more than 1 in 100. Most prenatal diagnostic tests available at this time involve an amniocentesis, which cannot generally be carried out safely and successfully before 15 or 16 weeks' gestation. Laboratory tests on the amniotic fluid itself or on the cells it contains must follow, generally after a period of cell culture. Fetosocopy at about 18 weeks or later is at present rarely used because of its technical difficulties as well as its relatively high risk of complications. Ultrasound is largely used as a preliminary to amniocentesis or to identify anencephaly. 1 of the problems of these prenatal tests often involving lengthy laboratory techniques is reflected in the late termination times reported from 1 large center, where barely 1/2 the terminations for fetal malformations could be performed before 20 weeks' gestation. 2 provisions of John Corrie's Bill now before Parliament may have a profound effect on prenatal diagnosis and related aspects of secondary prevention of fetal malformation. These are the suggested lowering of the gestational age at which abortions can normally be performed, and the strengthening of the conscience clause enabling physicians to refuse to provide a certificate for abortion.

  7. Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling.

    PubMed

    Gilbert, B; Yardin, C; Briault, S; Belin, V; Lienhardt, A; Aubard, Y; Battin, J; Servaud, M; Philippe, H J; Lacombe, D

    2002-08-01

    We describe a set of monozygotic (MZ) female twins, one of whom presented with a typical Turner syndrome (TS) phenotype and the other a normal female phenotype. Prenatal fetal ultrasonographic examination showed a monochorial diamniotic pregnancy with a hygroma colli and growth delay in Twin A and no anomalies in Twin B. Karyotypic analysis performed on fetal blood samples demonstrated a 46,XX/45,X (23/2) mosaicism in Twin A and a normal 46,XX chromosome constitution in Twin B. At birth, Twin A presented with a typical TS and Twin B had a normal female phenotype. Postnatal cytogenetic investigation of blood lymphocytes showed the same 46,XX/45,X mosaicism in both twins: 46,XX/45,X (40/7) in Twin A and 46,XX/45,X (40/5) in Twin B. Further investigations at the age of 10 months showed in Twin A a 46,XX/45,X (98/2) mosaicism in lymphocytes and 100% of 45,X (50 analysed cells) in fibroblasts, and in Twin B a normal 46,XX (100 analysed cells) chromosome constitution in lymphocytes but a mild 46,XX/45,X (78/2) mosaicism in fibroblasts. Monozygosity was confirmed by molecular analysis. To our knowledge, this is the first report of prenatal diagnosis of MZ female twins discordant for TS. Review of reported sets of MZ female twins (eight cases) or triplets (one case) discordant for TS shows, as in the present case, that the phenotype correlates better with the chromosomal distribution of mosaicism in fibroblasts than in lymphocytes. In the blood of MZ twins chimerism may modify the initial allocation of the mosaicism. These results suggest that, in cases of prenatal diagnosis of MZ female twins discordant for TS, the phenotype of each twin would be better predicted from karyotype analysis of cells from amniotic fluid than from fetal blood.

  8. [Noninvasive prenatal genetic diagnosis: a bioethical reflection on the use of noninvasive prenatal diagnosis from the analysis of nucleic acids present in maternal peripheral blood].

    PubMed

    González-Melado, Fermín J; Di Pietro, Maria Luisa

    2011-01-01

    The use of techniques that analyse the fetal nucleic acids present in maternal peripheral blood for the preparation of non-invasive prenatal genetic diagnosis, is a clinical reality in the case of certain diseases. In the coming years, it will become part of the routine monitoring for fetal diagnosis. This study analyzes the current status of these techniques as well as the major ethical issues arising from the relationship between - prenatal diagnosis and eugenic abortion, and the specific problems posed by - prenatal genetic diagnosis based an analysis of the nucleic acids present in maternal peripheral blood. Among the conclusions are the following: we make a positive ethical evaluation of the technique when it is aimed at pregnant women who are in a situation of high risk, defined on the basis of medical standards and ethics, without compromising the integrity of the fetus. We make a negative ethical evaluation when non-invasive prenatal genetic diagnosis has a eugenic purpose and will establish a connection between prenatal diagnosis and eugenic abortion in case of a positive result. Non-invasive prenatal diagnosis increases the image of the disabled person as an individual that has to be excluded from society. The widespread use of non-invasive prenatal diagnosis will decrease the autonomy of women / couples when it comes to making decisions. Health authorities may use non-invasive prenatal diagnosis as a way of ″preventing″ genetic diseases, since it will lower costs, increase the number of malformed fetuses detected and a decrease the number of indirect abortions involving invasive techniques. PMID:21692554

  9. Prenatal diagnosis of Down syndrome in dizygotic twin pregnancy.

    PubMed

    Krawczyk, Józef; Borowski, Dariusz; Wegrzyn, Piotr; Drews, Krzysztof; Wielgoś, Mirosław

    2013-11-01

    We present a case of a 33-year-old pregnant woman who had a transvaginal ultrasound performed at week 9 of gestation. A dichorionic diamniotic twin pregnancy with symmetrically developing fetuses, was confirmed. Chromosomal defect markers (NT NB, DV TV) were analyzed in the first genetic test, performed according to the Fetal Medicine Foundation (FMF) criteria, and the double marker test was performed (PAPP-A protein and free beta-hCG concentrations in patient serum were determined). In the subsequent diagnostic procedures, the patient was offered and consented to amniopuncture after week 15 of gestation. The material obtained in the course of that invasive procedure allowed to identify a normal male karyotype - 46, XY in the first fetus (Fetus I). Cytogenetic analysis of the material from the second fetus (Fetus II) resulted in the diagnosis of an abnormal female karyotype - 47, XX, +21. Based on the analyzed clinical case, we present the difficulties of performing prenatal diagnosis in a dizygotic twin pregnancy The results prove the applicability and efficacy of prenatal diagnostics tests based on the FMF criteria also in twin pregnancies. PMID:24455857

  10. Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

    PubMed

    Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

    2009-11-01

    Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

  11. [Advances in prenatal diagnosis of congenital heart diseases].

    PubMed

    Muner-Hernando, Marta; Gil-Mira, Mar; Zapardiel, Ignacio

    2013-06-01

    Congenital heart diseases are the most frequent abnormalities at the time of delivery. Their importance lays in the fact that they represent 46% of neonatal deaths and they are cause of a high morbidity rate. However, an early diagnosis is difficult. The aim of this revision is to give an update on the advances in the prenatal diagnosis of congenital heart diseases and their advantages compared to conventional sonography. The introduction of new technology in the detection of congenital heart diseases has improved the acquisition of better images in terms of resolution and quality. However, there is a lack of large studies to prove its benefits in non-selected population, although preliminary studies seem to give faithful results.

  12. [Prenatal diagnosis. I: Prenatal diagnosis program at the Medical Genetics Unit of the Universidad de Zulia, Maracaibo, Venezuela].

    PubMed

    Prieto-Carrasquero, M; Molero, A; Carrasquero, N; Paz, V; González, S; Pineda-Del Villar, L; Del Villar, A; Rojas-Atencio, A; Quintero, M; Fulcado, W; Mena, R; Morales-Machin, A

    1998-06-01

    The Prenatal Diagnosis Program of the Medical Genetic Unit of University of Zulia has the following objectives: Identification of Genetic Risk Factors (GRF) in those couples who attend to the Prenatal Genetic Clinic, application of different prenatal diagnostic procedures (PDP), and providing adequate genetic counseling. The goal of this paper is to show preliminary results obtained between January 1993 and December 1996. Three hundred and twenty one pregnant women were analyzed by determining the GRF and taking into account the genetic clinical history. The GRF analyzed were: Advanced maternal age (AMA), congenital malformation history (CMH), previous child with chromosomic anomalies (PCCA), defects of neural tube history (DNTH), congenital heart disease history (CHDH), any parent carrier of chromosomic anomaly (PCA), habitual abortion (HA), abnormal fetal echography (AFE), altered maternal serum levels of alpha-feto-protein (AMSAFP) and OTHERS: exposure to teratogenic agents, history of Mendelian diseases, maternal systemic diseases and anxiety in the mother or in her partner. The PDP was designed according to the GRF, which included fetal echography (FE), fetal echocardiography (FEc), amniocentesis (AMN), chordocentesis (CCT) and AMSAFP. Results showed that 58.4% of the expectant mothers asked for counseling during the 2nd trimester, 70% of the total showed only one GRF, and AMA was the most frequent GRF found (40.3%), followed by PCCA, AFE, CHDH, HA, DNTH, PCA, and OTHERS in that order. The specific PDP applied to the identified GRF allowed a health evaluation of the fetus. The GRF identification gave the opportunity of establishing a Prenatal Diagnostic Program producing a response to the couple's needs and showed the utility of an integral and multidisciplinary management directed to any expecting mother in order to identify any high GRF.

  13. Prenatal Diagnosis: Current Procedures and Implications for Early Interventionists Working with Families.

    ERIC Educational Resources Information Center

    Blasco, Patricia M.; And Others

    1994-01-01

    This article provides an overview of procedures commonly used in prenatal screening and diagnosis including ultrasound, amniocentesis, chorionic villus biopsy, maternal serum alpha-fetoprotein, and deoxyribonucleic acid (DNA) analysis. Emphasis is on the role of the early interventionist in supporting families during prenatal diagnosis. (Author/DB)

  14. Prenatal diagnosis of an autosomal translocation with regular trisomy 21.

    PubMed

    Tunca, Yusuf; Deveci, M Salih; Koc, Altug; Kaya, Halide; Alanbay, Ibrahim; Coksuer, Hakan; Dede, Murat

    2013-06-01

    The coincidence of trisomy 21 and a structural rearrangement is very rare, and even it has not been reported as a prenatal diagnosis yet. In this article, we present an autosomal translocation carrier fetus with trisomy 21: 47,XX,+21, t(3;8)(p21;q24). Although the coincidence of reciprocal translocation and trisomy may be seen in reciprocal translocation carrier families, de novo cases are extremely rare. The presented case is diagnosed by amniocentesis, which was performed because of abnormal fetal ultrasonographic findings and increased trisomy 21 risk at maternal serum screening test. The postmortem pathologic examination of the fetus revealed that the findings of hypertelorism and right lung with two lobes are interesting novel findings of our cases associated with the breakpoints 3p21 and 8q24.

  15. Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

    PubMed Central

    Sánchez, Javier; García-Díaz, Lutgardo; Chinchón, David; Antiñolo, Guillermo

    2012-01-01

    Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14), and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings. PMID:23198189

  16. Chromosomal mosaicism of extraembryonic cells detected by prenatal diagnosis

    SciTech Connect

    Zolotukhina, T.V.; Shilova, N.V.

    1995-09-01

    Data on detection of chromosomal mosaicism in amniotic cells and chorionic villi obtained by prenatal cytogenetic diagnosis are presented. The frequency of chromosomal mosaicism in preparations of amniotic fluid cell culture was 2.6% (6 out of 226), and that in {open_quotes}direct{close_quotes} villus preparations was 1.6% (13 out of 774). The necessity to perform an additional analysis of other fetal cells or neonatal lymphocytes to specify the diagnosis was shown. The analysis of the outcome of pregnancies during which chromosomal mosaicism in the extraembryonic cells was detected indicates that these women form a high-risk group, both genetically and obstetrically; in only 8 out of 19 cases did pregnancies end in normal deliveries at term; in three cases, spontaneous abortions occurred at 16-31 weeks of gestation; in three cases, the pregnancies were terminated due to fetal chromosomal aberrations in nonmosaic form; the outcome of pregnancy in five cases was preterm delivery of an underweight newborn. 26 refs., 1 tab.

  17. Pre-natal counselling and diagnosis in Down's syndrome.

    PubMed

    Papp, Z

    1973-01-01

    Today Down's syndrome is recognizable on the basis of its clinical c haracteristics in infants. According to present knowledge, Down's syndr ome can be classified cytogenetically into 4 groups: regular trisomy, translocational trisomy, mosaic forms and double trisomies. Knowledge of the karyotype is used in genetic counselling for further prevention of Down's syndrome in unborn fetuses. Prenatal chromosome analyses, a form of intrauterine diagnosis, has been used in Hungary since 1968. The average incidence of Down's syndrome has been estimated at 1.5:1000 among newborns. The mother's age and genetic deviations are determinant s in whether or not the syndrome will occur. The risk of Down's syndrome increases from 1 per 1000 in mothers under 30 to 10-20 per 1000 in mothers over 45. Since risk increases with the mother's age amniocen tesis should be routinely performed in pregnancies of older mothers. In the case of trisomy verified by intrauterine diagnosis, termination of pregnancy is advised. If population cytogenetic investigations are practiced, the carriers of the balanced translocation will be revealed and within a few years there will be only 3 indications for amniocentesis: 1) in cases of mother's advanced age, 2) in cases of bala nced translocation carrier and 3) in cases of a previously affected chil d disregarding the parental karyotypes. The expected risk of Down's syn drome predictable from available data if higher than 1-5% justifies intr auterine chromosome analysis.

  18. Early prenatal diagnosis of an infratentorial arachnoid cyst: association with an unbalanced translocation.

    PubMed

    Hogge, W A; Schnatterly, P; Ferguson, J E

    1995-02-01

    Arachnoid cysts are an uncommon central nervous system malformation, representing only 1 per cent of all intracranial masses. We report the second-trimester prenatal diagnosis of a posterior fossa arachnoid cyst, associated with an unbalanced X;9 translocation.

  19. What If the Prenatal Diagnosis of a Lethal Anomaly Turns Out to Be Wrong?

    PubMed

    Kidszun, André; Linebarger, Jennifer; Walter, Jennifer K; Paul, Norbert W; Fruth, Anja; Mildenberger, Eva; Lantos, John D

    2016-05-01

    Advances in prenatal diagnosis create a unique set of clinical ethics dilemmas. Doctors routinely obtain genetic screening, radiologic images, and biophysical profiling. These allow more accurate diagnosis and prognosis than has ever before been possible. However, they also reveal a wider range of disease manifestations than were apparent when prenatal diagnosis was less sophisticated. Sometimes, the best estimates of prognosis turn out to be wrong. The infant's symptoms may be less severe or more severe than anticipated based on prenatal assessment. We present a case in which a prenatal diagnosis was made of severe osteogenesis imperfecta, leading to a decision to induce delivery at 31 weeks. On postnatal evaluation, the infant's disease did not appear to be as bad as had been anticipated. We discuss the ethical implications of such diagnostic and prognostic errors. PMID:27244824

  20. Prenatal diagnosis of placenta and umbilical cord pathologies by three-dimensional ultrasound: pictorial essay.

    PubMed

    de Castro Rezende, Guilherme; Araujo Júnior, Edward

    2015-12-01

    The authors present their experience in prenatal diagnosis of placental and umbilical cord pathologies, using three-dimensional ultrasound (3DUS) in the rendering and tomography ultrasound imaging (TUI) modes, associated with color Doppler in some cases. Cases of placenta accreta/placenta previa, circumvallate placenta, succenturiate lobe, true knot of the umbilical cord, nuchal cord, and marginal/velamentous umbilical cord insertion are presented. 3DUS can contribute to improve the accuracy of prenatal diagnosis of placenta and umbilical cord pathologies.

  1. [Cleft lip and palate--prenatal diagnosis and counseling].

    PubMed

    Hrusková, H; Calda, P; Zizka, Z; Krofta, L; Baxová, A; Zidovská, J; Kapras, J; Zivný, J

    1998-10-01

    The most frequent congenital developmental defect in the orofacial region are, no doubt, facial clefts which are a serious stress for health professionals and the population. Depending on the type of cleft, the prevalence is between 1 : 1000-2800 births. According to contemporary views in the etiology of orofacial clefts participate genetic as well as environmental factors. That means that specific genetic factors create a certain "sensitivity" for specific factors of the external environment which act as a trigger mechanism and combined they produce the cleft. Cleft lip can be diagnosed already during the 13th week of gestation, while a cleft palate is not necessarily apparent till after the 18th week of gestation as the maxilla is in the process of joining. Presentation of the foetal face and its profile is thus important in particular during the second trimester of gestation and should be part of ultrasonographic screening between the 18th and 20th week of gestation. As more than 8% of facial clefts are associated with chromosomal abnormalities, in all affected foetuses karyotyping is done. The prognosis of satisfactory cosmetic and functional repair in cleft lip and in cleft lip and palate is favourable. In case of associated malformations all depends on the type and severity of these associated defects or on the diagnosis of the syndrome. If median clefts are extensive or associated with cerebral anomalies, the prognosis is as a rule poor. Prenatal diagnosis and management of defects of the orofacial area calls for collaboration of the obstetrician, neonatologist and plastic surgeon already in the stage when the defect is detected to give the expectant mother an opportunity to obtain accurate and unbiased information on possible treatment and prognosis for the foetus. PMID:9818495

  2. Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies

    PubMed Central

    Bustamante-Aragones †, Ana; Perlado-Marina †, Sara; Trujillo-Tiebas, Maria José; Gallego-Merlo, Jesús; Lorda-Sanchez, Isabel; Rodríguez-Ramirez, Luz; Linares, Concepcion; Hernandez, Corazón; Rodriguez de Alba, Marta

    2014-01-01

    Prenatal diagnosis (PD) is recommended in pregnancies after a Preimplantation Genetic Diagnosis (PGD). However, conventional PD entails a risk of fetal loss which makes PGD patients reluctant to undergo obstetric invasive procedures. The presence of circulating fetal DNA in maternal blood allows performing a non-invasive prenatal diagnosis (NIPD) without risk for the pregnancy outcome. This work shows the introduction of NIPD for confirmation of PGD results in eight pregnancies. In those pregnancies referred to PGD for an X-linked disorder (six out of eight), fetal sex determination in maternal blood was performed to confirm fetal sex. One pregnancy referred to PGD for Marfan syndrome and one referred for Huntington disease (HD) were also analyzed. In seven out of eight cases, PGD results were confirmed by NIPD in maternal blood. No results were obtained in the HD pregnancy. NIPD in PGD pregnancies can be a reliable alternative for couples that after a long process feel reluctant to undergo PD due to the risk of pregnancy loss. PMID:26237485

  3. Sonographic diagnosis of a retroperitoneal dermoid cyst in a young girl.

    PubMed

    Kanizsai, B; Turi, Z; Orley, J; Szigetvári, I; Doszpod, J

    1998-11-01

    We describe the detection and management of a retroperitoneal dermoid cyst in a young girl. Transabdominal ultrasound revealed in the pelvis a complex mass with anechogenic and echogenic components characteristic of a dermoid cyst. Initially, it was presumed to be of ovarian origin, because extragonadal dermoid cysts are very rare in adolescence; however, the findings on physical examination were normal. Laparoscopy was performed but failed to identify a cyst. Ultrasound examination was repeated intraoperatively and confirmed the presence of the cyst, which was then removed by laparotomy from the retroperitoneum. This case illustrates the significance of ultrasonography in the diagnosis of a rare condition in adolescent gynecology and demonstrates the possibility of performing ultrasound scanning intraoperatively to confirm the presence of a mass which was not identified by laparoscopy.

  4. Prenatal diagnosis and assessment of congenital spinal anomalies: Review for prenatal counseling.

    PubMed

    Upasani, Vidyadhar V; Ketwaroo, Pamela Deaver; Estroff, Judy A; Warf, Benjamin C; Emans, John B; Glotzbecker, Michael P

    2016-07-18

    The last two decades have seen continuous advances in prenatal ultrasonography and in utero magnetic resonance imaging. These technologies have increasingly enabled the identification of various spinal pathologies during early stages of gestation. The purpose of this paper is to review the range of fetal spine anomalies and their management, with the goal of improving the clinician's ability to counsel expectant parents prenatally. PMID:27458551

  5. Prenatal diagnosis and assessment of congenital spinal anomalies: Review for prenatal counseling

    PubMed Central

    Upasani, Vidyadhar V; Ketwaroo, Pamela Deaver; Estroff, Judy A; Warf, Benjamin C; Emans, John B; Glotzbecker, Michael P

    2016-01-01

    The last two decades have seen continuous advances in prenatal ultrasonography and in utero magnetic resonance imaging. These technologies have increasingly enabled the identification of various spinal pathologies during early stages of gestation. The purpose of this paper is to review the range of fetal spine anomalies and their management, with the goal of improving the clinician’s ability to counsel expectant parents prenatally. PMID:27458551

  6. Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy

    SciTech Connect

    Roberts, R.G.; Cole, C.G.; Hart, K.A.; Bobrow, M.; Bentley, D.R. )

    1989-01-25

    Carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD and BMD) by DNA methods uses Southern blotting to detect either the informative segregation of restriction fragment length polymorphisms (RFLPs) or the absence of restriction fragments in affected males. Recently, the use of the polymerase chain reaction (PCR) for rapid detection of deletions in some affected males was reported eliminating the need for Southern blotting of 37% of all samples. This approach is not applicable, however, to non-deletion cases or for carrier diagnosis. The authors have used PCR for rapid analysis of intragenic RFLPs to permit both carrier and prenatal diagnosis in the majority of familial cases.

  7. Receiving the Initial Down Syndrome Diagnosis: A Comparison of Prenatal and Postnatal Parent Group Experiences

    ERIC Educational Resources Information Center

    Nelson Goff, Briana S.; Springer, Nicole; Foote, Laura Cline; Frantz, Courtney; Peak, Madison; Tracy, Courtney; Veh, Taylor; Bentley, Gail E.; Cross, Kayli A.

    2013-01-01

    This study explored the preliminary experiences of parents upon learning of their child's diagnosis of Down syndrome. Qualitative data from a web-based, national survey were analyzed based on two groups: prenatal ("n" = 46) or postnatal ("n" = 115) diagnosis. Three primary categories emerged from the data analysis:…

  8. Prenatal diagnosis of congenital anomalies. What can and should be done?

    PubMed Central

    Langer, J. C.

    1993-01-01

    Prenatal diagnosis of congenital anomalies provides an opportunity to prepare and counsel parents. It can lead to pregnancy termination; to a change in timing, mode, or location of delivery; or, in some cases, to prenatal intervention. Families with an affected fetus are best managed by a cohesive medical team. This article outlines the principles used to manage these cases. Images Figures 1-3 Figures 4-5 PMID:8471905

  9. Prenatal diagnosis as a tool and support for eugenics: myth or reality in contemporary French society?

    PubMed

    Gaille, Marie; Viot, Géraldine

    2013-02-01

    Today, French public debate and bioethics research reflect an ongoing controversy about eugenics. The field of reproductive medicine is often targeted as pre-implantation genetic diagnosis (PGD), prenatal diagnosis, and prenatal detection are accused of drifting towards eugenics or being driven by eugenics considerations. This article aims at understanding why the charge against eugenics came at the forefront of the ethical debate. Above all, it aims at showing that the charge against prenatal diagnosis is groundless. The point of view presented in this article has been elaborated jointly by a geneticist and a philosopher. Besides a survey of the medical, bioethical, philosophical and social sciences literature on the topic, the methodology is founded on a joint analysis of geneticist's various consults. Evidence from office visits demonstrated that prenatal diagnosis leads to case-by-case decisions. As we have suggested, this conclusion does not mean that prenatal diagnosis is devoid of ethical issues, and we have identified at least two. The first is related to the evaluation of a decision to abort. The second line of ethical questions arises from the fact that the claim for "normality" hardly hides normative and ambiguous views about disability. As a conclusion, ethical dilemmas keep being noticeable in the field of reproductive medicine and genetic counselling, but an enquiry about eugenic tendencies probably does not allow us to understand them in the proper way.

  10. Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012

    PubMed Central

    Rosselli, Pablo; Nossa, Sergio; Huérfano, Elina; Betancur, Germán; Guzmán, Yuli; Castellanos, Cristal; Morcuende, Jose

    2015-01-01

    Introduction Congenital Talipes Equinovarus (CTEV) or clubfoot is one of the most common congenital abnormalities1,2. Early diagnosis by means of ultrasonography allows an opportune intervention and improves the deformity's correction prognosis. Goal To describe patients diagnosed with CTEV by means of prenatal sonographies between 2003 and 2012 in Bogotá (Colombia) at both the Institute de Ortopedia Infantil Roosevelt (IOIR) and one of the authors' private office. Methods A descriptive, retrospective study on the focus population was made. The equality of the data of the quantitative variables in distance measure was analysed by the Kolmogorov–Smirnov test. For the variables “prenatal diagnoses” and “days from the start of the treatment” the Mann–Whitney U test was used. Finally, an analysis was made by means of the SPSS Statistics software package, version 18.0. Results 178 patients met the selection criteria. 34.3% of the patients had a prenatal diagnosis by ultrasonography (n=61). Regarding the number of prenatal ultrasounds performed, there were statistically significant differences between the patients with a CTEV prenatal diagnoses and those whose diagnoses came after birth, being higher in the first group (p<0.001). The number of days before the treatment started once the pre or postnatal diagnosis was done was also a subject of study. Significant differences were found in the treatment start between patients with a prenatal diagnosis (mean of 9.9 days) and those diagnosed after birth (mean of 30 days) (p<0.001). Conclusions prenatal diagnosis by foetal ultrasonography contributes to an early detection of musculoskeletal abnormalities such as CTEV and promotes an early intervention of the patient. PMID:26361459

  11. Prenatal diagnosis of isolated congenital pyloric atresia in a sibling.

    PubMed

    Usui, Noriaki; Kamiyama, Masafumi; Kimura, Takuya; Kamata, Shinkichi; Nose, Keisuke; Fukuzawa, Masahiro

    2013-02-01

    Although familial occurrence of congenital pyloric atresia (CPA) has been frequently reported in the past, many of these cases were associated with epidermolysis bullosa (EB), and familial isolated CPA was a relatively rare condition. We prenatally diagnosed and successfully treated a sibling of a subject with isolated CPA, who was diagnosed prenatally by fetal ultrasonography based on the findings of a distended stomach combined with polyhydramnios. The first case was a 2398-g female infant born at 36 weeks of gestation, who had been prenatally diagnosed as CPA. The second case, a younger sister of the first case, was a female infant weighing 2434 g, who had been also diagnosed as CPA by fetal ultrasonography at the check-up for the polyhydramnios of the same mother. Neither of the infants showed dermal lesions such as EB, and both underwent pyloroplasty with an excision of the pyloric membrane successfully after birth. PMID:23409992

  12. Juvenile granulosa cell tumor of the testis: prenatal diagnosis and prescrotal approach

    PubMed Central

    2012-01-01

    Neonatal testicular tumors are rare and should be considered in the differential diagnosis of newborn scrotal masses. Juvenile granulosa cell tumor (JGCT) accounts for about 5% of all prepubertal testis tumors. As a benign neoplasm, radical orchiectomy is sufficient for treatment. We report a case of a newborn with a prenatal diagnosis of scrotal mass. After surgery, the histological diagnosis was juvenile granulosa cell tumor. To date the patient is healthy. PMID:23217189

  13. Prenatal diagnosis of colpocephaly with absent corpus callosum.

    PubMed

    Ansary, Althaf; Manjunatha, C M; Ibhanesebhor, Samuel

    2015-02-01

    Colpocephaly is a rare abnormality of the brain, described as persistence of primitive foetal configuration of lateral ventricles. It has been found in association with several abnormalities of the brain. Herein we report a case of colpocephaly with absent corpus callosum, confirmed antenatally with foetal MRI following diagnostic suspicion based on absent septum pellucidum at prenatal sonography.

  14. Who should be offered prenatal diagnosis? The 35-year-old question.

    PubMed Central

    Kuppermann, M; Goldberg, J D; Nease, R F; Washington, A E

    1999-01-01

    Prenatal diagnosis of chromosomal disorders is generally offered to women who will be 35 years or older at the time of delivery or who have been determined via serum screening to be at risk similar to that of a woman older than 35 years. This age threshold was based on 4 major rationales that reflect considerations of resources and effectiveness. In this paper, we explore the current screening recommendations and consider new information that calls the 35-years threshold into question. We conclude that guidelines regarding use of prenatal diagnosis account for the preferences of the individual patient as well as for individual risk. PMID:9949742

  15. Fetal Cell Based Prenatal Diagnosis: Perspectives on the Present and Future

    PubMed Central

    Fiddler, Morris

    2014-01-01

    The ability to capture and analyze fetal cells from maternal circulation or other sources during pregnancy has been a goal of prenatal diagnostics for over thirty years. The vision of replacing invasive prenatal diagnostic procedures with the prospect of having the entire fetal genome in hand non-invasively for chromosomal and molecular studies for both clinical and research use has brought many investigators and innovations into the effort. While the object of this desire, however, has remained elusive, the aspiration for this approach to non-invasive prenatal diagnosis remains and the inquiry has continued. With the advent of screening by cell-free DNA analysis, the standards for fetal cell based prenatal diagnostics have been sharpened. Relevant aspects of the history and the current status of investigations to meet the goal of having an accessible and reliable strategy for capturing and analyzing fetal cells during pregnancy are reviewed. PMID:26237488

  16. Attitudes of Mothers towards Their Child with Down Syndrome before and after the Introduction of Prenatal Diagnosis

    ERIC Educational Resources Information Center

    Lenhard, Wolfgang; Breitenbach, Erwin; Ebert, Harald; Schindelhauer-Deutscher, H. Joachim; Zang, Klaus D.; Henn, Wolfram

    2007-01-01

    In 1970, before the introduction of prenatal diagnosis of chromosome anomalies, an unpublished questionnaire study concerning the social and emotional situation of mothers of children with Down syndrome was conducted in southern Germany. To assess the psychosocial impact of the availability of prenatal diagnosis on parents of genetically…

  17. Sonographic findings in an isolated widened fetal subarachnoid space.

    PubMed

    Tongsong, Theera; Puntachai, Pongsun; Tongprasert, Fuanglada; Srisupundit, Kasemsri; Luewan, Suchaya; Traisrisilp, Kuntharee

    2015-05-01

    The purpose of this series was to describe sonographic features of an isolated widened fetal subarachnoid space with a thin cerebral mantle and possible associations. Between January 2004 and December 2013, fetuses with a prenatal diagnosis of a widened subarachnoid space were prospectively recruited and followed. Histories of medical and familial diseases, as well as other demographic data such as drug exposure and lifestyles, were assessed and prospectively recorded. The women were investigated for possible associated factors. Ten pregnant women were recruited. Their fetuses showed various degrees of a widened subarachnoid space, ranging from 5 to 20 mm. Nearly all were diagnosed in the second half of pregnancy. Four cases had normal brain structures documented at midpregnancy anomaly screening. Only 1 case had a prenatal diagnosis of a widened subarachnoid space at 20 weeks' gestation. Two fetuses had exposure to alcohol in utero; 2 were proven to have cytomegalovirus infection; 1 had subarachnoid hemorrhage secondary to maternal use of warfarin; and 1 had a diagnosis of lissencephaly. Only 1 case in this series had normal postnatal development. A prenatal series of fetal widened subarachnoid spaces with possible associated factors is described. Although such relationships were not fully proven, they should be index cases for future studies.

  18. Embodied experiences of prenatal diagnosis of fetal abnormality and pregnancy termination.

    PubMed

    Pitt, Penelope; McClaren, Belinda J; Hodgson, Jan

    2016-05-01

    Pregnant women routinely undergo prenatal screening in Australia and this has become a common experience of motherhood. When prenatal screening or prenatal testing results in diagnosis of a serious fetal abnormality, women are presented with a decision to continue or terminate their pregnancy. Few recent studies have explored women's psychosocial experience of prenatal diagnosis and pregnancy termination for fetal abnormality, and within this small group of studies it is rare for research to consider the embodied aspect of women's experiences. This paper reports on qualitative findings from in-depth interviews with 59 women in Melbourne, Australia who received a prenatal diagnosis of a significant abnormality and decided to terminate the pregnancy. Interview transcripts were coded inductively through thematic analysis. Two themes about embodiment were generated from the interviews: transitioning embodiment, and vulnerable bodies in un/comfortable spaces. Theory of pregnant embodiment was drawn on in interpreting women's narratives. Recommendations arising from the analysis include health professionals recognising, acknowledging and accommodating the transitioning embodied state of women as they consider, prepare for, undergo and recover from pregnancy termination for fetal abnormality. Further recommendations address the connections and disconnections between this transitioning embodied state and the spaces of clinics, hospitals and home. PMID:27578350

  19. Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

    PubMed Central

    Reisch, Nicole; Idkowiak, Jan; Hughes, Beverly A.; Ivison, Hannah E.; Abdul-Rahman, Omar A.; Hendon, Laura G.; Olney, Ann Haskins; Nielsen, Shelly; Harrison, Rachel; Blair, Edward M.; Dhir, Vivek; Krone, Nils; Shackleton, Cedric H. L.

    2013-01-01

    Context: Mutations in the electron donor enzyme P450 oxidoreductase (POR) result in congenital adrenal hyperplasia with apparent combined 17α-hydroxylase/17,20 lyase and 21-hydroxylase deficiencies, also termed P450 oxidoreductase deficiency (PORD). Major clinical features present in PORD are disordered sex development in affected individuals of both sexes, glucocorticoid deficiency, and multiple skeletal malformations. Objective: The objective of the study was to establish a noninvasive approach to prenatal diagnosis of PORD including assessment of malformation severity to facilitate optimized prenatal diagnosis and timely treatment. Design: We analyzed 20 pregnancies with children homozygous or compound heterozygous for disease-causing POR mutations and 1 pregnancy with a child carrying a heterozygous POR mutation by recording clinical and biochemical presentations and fetal ultrasound findings. In 4 of the pregnancies (3 homozygous and 1 heterozygous for disease-causing POR mutations), prenatal analysis of steroid metabolite excretion in maternal urine was carried out by gas chromatography/mass spectrometry during gestational weeks 11–23. Results: Pregnancy complications in our cohort included maternal virilization (6 of 20) with onset in the second trimester. Seven pregnant women presented with low unconjugated estriol at prenatal screening (triple or quadruple antenatal screening test). Overt dysmorphic features were noted in 19 of the 20 babies at birth but observed in only 5 by prenatal ultrasound. These 5 had the most severe malformation phenotypes and poor outcome, whereas the other babies showed normal development. Steroid profiling of maternal urine revealed significantly increased steroids of fetal origin, namely the pregnenolone metabolite epiallopregnanediol and the androgen metabolite androsterone, with concomitant low values for estriol. Diagnostic steroid ratios conclusively indicated PORD as early as gestational week 12. In the heterozygous

  20. Maternal decisions regarding prenatal diagnosis: rational choices or sensible decisions?

    PubMed

    Lawson, Karen L; Pierson, Roger A

    2007-03-01

    The premise underlying prenatal testing is that knowing the health status of the fetus will enable expectant parents to make rational reproductive decisions. Accordingly, rational-choice perspectives have informed both counselling protocols and the majority of investigations into the psychological processes involved in making decisions about testing and selective abortion. However, because conditions inherent in the testing situation may not adhere to the basic assumptions of rational choice models, the use of these models may be inappropriate. The individualistic focus of rational choice models may be too narrow to encompass the social and psychological factors relevant to making a decision about testing. In light of these limitations, we make a case for adopting a contextual framework for conceptualizing decisions regarding the use of prenatal testing. PMID:17346494

  1. Difficulties in prenatal diagnosis of tumour in the fetal sacrococcygeal area.

    PubMed

    Krekora, Michał; Zych-Krekora, Katarzyna; Blitek, Marek; Kęsiak, Marcin; Piaseczna-Piotrowska, Anna; Łukaszek, Stanisław; Krasomski, Grzegorz; Słodki, Maciej; Szaflik, Krzysztof; Respondek-Liberska, Maria

    2016-05-01

    Prenatal ultrasound at the 20th week of gestation revealed a 3-cm tumour in the sacrococcygeal area. Initially, a sacrococcygeal teratoma was suspected on the basis of fetal ultrasonography, which revealed normal heart anatomy and an increasing tumour mass. The diagnosis was then changed to fetus in fetu or teratoma. Prenatal magnetic resonance imaging at the 34th week of pregnancy confirmed the ultrasound diagnosis. No other anomalies were found. Elective caesarean section was performed at term. The care team included a paediatric surgeon, obstetricians, neonatologists, midwives, and an anesthesiologist. A female newborn was delivered in good condition. The tumour was resected in the operating room and mature teratoma was established by histopathological evaluation. Surprisingly, agenesis of the right forearm was revealed which had not been detected prenatally, despite many examinations (both in our hospital and earlier at a primary care obstetrician office). PMID:27482281

  2. Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

    PubMed Central

    Grati, Francesca Romana

    2014-01-01

    Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS) of a prenatal diagnosis laboratory the following items are discussed: (i) The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM); (ii) The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii) The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv) The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-)direct preparation or long term culture; and (v) The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS). PMID:26237479

  3. Noninvasive prenatal diagnosis by analysis of fetal DNA in maternal plasma.

    PubMed

    Chiu, Rossa W K; Lo, Y M Dennis

    2006-01-01

    Prenatal diagnosis has become a standard part of obstetrics care. Genetic diagnoses are established prenatally through the sampling of fetal genetic material by invasive methods such as amniocentesis or chorionic villus sampling, which are associated with a risk of fetal loss. Hence, the recent discovery of the presence of fetal DNA in maternal plasma has led to exciting possibilities of noninvasive prenatal diagnosis. Numerous applications have since been reported for the analysis of circulating fetal DNA. The accuracy of fetal DNA assessment from maternal plasma is dependent on the appropriate preanalytical handling of maternal blood samples, an efficient fetal DNA extraction protocol, and a sensitive and specific detection method. The protocol that has been applied regularly in the laboratory of the authors for the reliable detection and quantification of circulating fetal DNA is presented in this chapter.

  4. Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.

    PubMed

    Cui, Ying-Xia; Xia, Xin-Yi; Bu, Ying; Zhou, Guo-Hua; Yang, Bin; Lu, Hong-Yong; Shi, Yi-Chao; Pan, Lian-Jun; Huang, Yu-Feng; Li, Xiao-Jun

    2008-12-01

    Heterozygous mutations of COL2A1 gene are responsible for type II collagenopathies. The common skeletal phenotypes include achondrogenesis type II, hypochondrogenesis, Stickler dysplasia, Kniest dysplasia, late onset spondyloepiphyseal dysplasia, and spondyloepiphyseal dysplasia congenita (SEDC). Prevention of SEDC can be achieved by prenatal diagnosis. This study reports the first rapid molecular prenatal diagnosis of SEDC performed in China by polymerase chain reaction sequence-specific primer (PCR-SSP) analysis. The pregnant woman we previously reported with SEDC carried the G to A substitution at nucleotide 1510 in exon 23 of COL2A1 gene, which caused a change from glycine to serine at codon 504 (G504S). By the time the woman got pregnant again, she had terminated two pregnancies and still had no child. In the first pregnancy, the molecular mutation of the family was not yet identified, and therefore prenatal diagnosis was unable to be performed by DNA analysis. In the second pregnancy, G504S mutation was found from fetal DNA. At the time of her third pregnancy, the woman and her husband became extremely worried about the potential SEDC for the fetus. For this reason, a quick and reliable molecular prenatal diagnosis of SEDC was performed by a PCR-SSP on an amniocyte sample collected at the 14th week of pregnancy. No mutation of the fetal DNA was identified. The result was obtained within 24 h after the sample was collected. The technique could be applied in confirmatory diagnosis and prenatal diagnosis for the affected family. PMID:19072565

  5. Counseling needs and attitudes toward prenatal diagnosis and abortion in fragile-X families.

    PubMed

    Meryash, D L; Abuelo, D

    1988-05-01

    The genetic counseling need of 32 women of normal intelligence at-risk for having children with the fragile-X syndrome (FXS) were determined by a questionnaire study which included assessment of their attitudes toward prenatal diagnosis and the option of pregnancy termination. Eighteen (56%) of the women had one or more children with the FXS and 14 (44%) had no affected children. Twenty-six (81%) of the subjects stated that they would choose to have prenatal diagnosis and 9 (28%) indicated they would terminate an affected pregnancy. There was no significant difference between women who had affected children and those who did not have affected children, nor between Catholics and non-Catholics regarding acceptance of prenatal diagnosis. Catholic women were less likely to consider pregnancy termination than non-Catholics, but the majority of subjects (56%) were unsure what they would do if a fetus they were carrying was found to be affected. Issues the subjects considered most important for discussion with a genetic counselor included: 1) availability of treatment, 2) risk for having an affected grand child, 3) expectations for future functioning of affected children, and 4) availability of prenatal diagnosis.

  6. Systematic review of accuracy of prenatal diagnosis for abnormal chromosome diseases by microarray technology.

    PubMed

    Xu, H B; Yang, H; Liu, G; Chen, H

    2014-10-31

    The accuracy of prenatal diagnosis for abnormal chromosome diseases by chromosome microarray technology and karyotyping were compared. A literature search was carried out in the MEDLINE database with the keywords "chromosome" and "karyotype" and "genetic testing" and "prenatal diagnosis" and "oligonucleotide array sequence". The studies obtained were filtered by using the QUADAS tool, and studies conforming to the quality standard were fully analyzed. There was one paper conforming to the QUADAS standards including 4406 gravidas with adaptability syndromes of prenatal diagnosis including elderly parturient women, abnormal structure by type-B ultrasound, and other abnormalities. Microarray technology yielded successful diagnoses in 4340 cases (98.8%), and there was no need for tissue culture in 87.9% of the samples. All aneuploids and non-parallel translocations in 4282 cases of non-chimera identified by karyotyping could be detected using microarray analysis technology, whereas parallel translocations and fetal triploids could not be detected by microarray analysis technology. In the samples with normal karyotyping results, type-B ultrasound showed that 6% of chromosomal deficiencies or chromosome duplications could be detected by microarray technology, and the same abnormal chromosomes were detected in 1.7% of elderly parturient women and samples with positive serology screening results. In the prenatal diagnosis test, compared with karyotyping, microarray technology could identify the extra cell genetic information with clinical significance, aneuploids, and non-parallel translocations; however, its disadvantage is that it could not identify parallel translocations and triploids.

  7. [Prenatal diagnosis and postpartal therapy of a rare sequela of gastroschisis: short bowel syndrome].

    PubMed

    Wunsch, M; Pompino, H J

    1991-01-01

    Report about a rare complication of gastroschisis by early volvalus. Following this occasionally the prenatal diagnosis there was a very ultrasonogram of a mostly solid tumour before the abdominal wall. The postpartal operative therapy with resection and later doubling according to Bianchi B described.

  8. Prenatal diagnosis of the rare association of common arterial trunk and double aortic arch.

    PubMed

    Rock, Andrea; Eltayeb, Osama; Camarda, Joseph; Gotteiner, Nina

    2016-07-01

    Common arterial trunk with associated double aortic arch is a very rare constellation of congenital heart disease. Prenatal diagnosis allows for surgical repair prior to development of respiratory morbidity, which is otherwise described in all cases with this association. PMID:27386125

  9. Incidental Prenatal Diagnosis of Sex Chromosome Aneuploidies: Health, Behavior, and Fertility

    PubMed Central

    Pieters, J. J. P. M.; Kooper, A. J. A.; van Kessel, A. Geurts; Braat, D. D. M.; Smits, A. P. T.

    2011-01-01

    Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal aneuploidies from 2006 to 2011 as well as publications on incidentally prenatally diagnosed sex chromosomal aneuploidies from 1980 to 2011. Results. Postnatally diagnosed sex chromosomal aneuploidies demonstrated three clinical relevant domains of abnormality: physical (22–100%), behavior (0–56%), and reproductive health (47–100%), while incidentally prenatally diagnosed sex chromosomal aneuploidies demonstrated, respectively, 0–33%, 0–40%, and 0–36%. Conclusion. In the literature incidental prenatal diagnosis of sex chromosomal aneuploidies is associated with normal to mildly affected phenotypes. This contrasts sharply with those of postnatally diagnosed sex chromosomal aneuploidies and highlights the importance of this ascertainment bias towards the prognostic value of diagnosis of fetal sex chromosomal aneuploidies. This observation should be taken into account, especially when considering excluding the sex chromosomes in invasive prenatal testing using Rapid Aneuploidy Detection. PMID:22191050

  10. Sonographic evaluation of hindfoot disorders.

    PubMed

    Hoffman, Douglas F; Grothe, Heather L; Bianchi, Stefano

    2014-06-01

    Foot pain is a common orthopedic condition that can have an impact on health-related quality of life. The evaluation of plantar hindfoot pain begins with history and physical examination. Imaging modalities, standard radiographs, sonography, MR, CT are often utilized to clarify the diagnosis. The article is a detailed description of the sonographic evaluation of the plantar fascia and its disorders as well as the common etiologies in the differential diagnosis of plantar fasciopathy.

  11. Prenatal diagnosis of a fibrosarcoma of the thigh: a case report.

    PubMed

    Durin, Luc; Jeanne-Pasquier, Corinne; Bailleul, Patrick; Eboué, Cyril; Aicardi, Stéphanie; Herlicoviez, Michel; Dreyfus, Michel

    2006-01-01

    We report a rare case of fibrosarcoma of the thigh suspected prenatally. At 27 weeks of gestation a voluminous, vascularised mass was discovered at ultrasound on the foetus' left leg, suggestive of haemangioma or a fibrosarcoma. There were no signs of heart failure. A rapid increase in the tumour mass was noted and a caesarean section was carried out at 39 weeks because of abnormal foetal heart rate. Postnatal ultrasound examination was comparable to that carried out prenatally; pathological examination of the mass biopsied and immunohistochemical investigation provided a diagnosis of congenital fibrosarcoma. After neoadjuvant chemotherapy and surgery the infant is now in complete remission without amputation. PMID:16968999

  12. “Functionally” Univentricular Hearts: Impact of Pre-Natal Diagnosis

    PubMed Central

    Corno, Antonio Francesco

    2015-01-01

    Within the last few decades the pre-natal echocardiographic diagnosis of congenital heart defects has made substantial progresses, particularly for the identification of complex malformation. “Functionally” univentricular hearts categorize a huge variety of heart malformations. Since no one of the patients with these congenital heart defects can ever undergo a bi-ventricular type of repair, early recognition and decision-making from the neonatal period are required in order to allow for appropriate multiple-step diagnostic and treatment procedures, either of interventional cardiology and/or surgery, on the pathway of “univentricular” heart. In the literature strong disagreements exist about the potential impact of the pre-natal diagnosis on the early and late outcomes of complex congenital heart defects. This review of the recent reports has been undertaken to better understand the impact of pre-natal diagnosis in “functionally” univentricular hearts taking into consideration the following topics: pre-natal screening, outcomes and survival, general morbidity, neurologic and developmental consequences, pregnancy management and delivery planning, resources utilization and costs/benefits issues, ethical implications, parents counseling, and interruption of pregnancy versus treatment. PMID:25774365

  13. Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity

    PubMed Central

    Aslan, Halil; Karaca, Nilay; Basaran, Seher; Ermis, Hayri; Ceylan, Yavuz

    2003-01-01

    Background Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. Case Presentation A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4)(p14) karyotype. Conclusion The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome. PMID:12546710

  14. The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger.

    PubMed

    Solish, G I; Moser, H W; Ringer, L D; Moser, A E; Tiffany, C; Schutta, E

    1985-01-01

    The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger (CHRS) was made by assaying the levels of very long chain fatty acids (VLCFAs) in amniotic fluid cell cultures, obtained by amniocentesis at 16 1/2 weeks of pregnancy. The family-at-risk, because they had previously borne a child with CHRS, accepted these results as indications of an affected fetus, and chose to terminate the pregnancy at 20 1/2 weeks of gestation. The diagnosis was confirmed by the phenotype of the aborted fetus and the presence of markedly elevated levels of VLCFAs in fetal liver homogenates. The prenatal diagnosis of CHRS, which can now readily be determined from amniotic fluid cell cultures, is an important step in genetic counselling of families-at-risk for this disease.

  15. Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).

    PubMed

    Francoual, Jeanne; Trioche, Pascale; Mokrani, Chahnez; Seboui, Hassen; Khrouf, Naïma; Chalas, Jacqueline; Clement, Marina; Capel, Liliane; Tachdjian, Gérard; Labrune, Philippe

    2002-10-01

    Crigler-Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of performing DNA-based diagnosis. Here we report DNA-based prenatal diagnosis of CN-I in two Tunisian families in whom CN-I patients were diagnosed. As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN-I is possible, provided disease-causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis.

  16. Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature

    PubMed Central

    Tanemoto, Tomohiro; Nagata, Chie; Okamoto, Aikou

    2016-01-01

    Agnathia is a rare disease characterized by the absence of a mandible. Few cases of prenatally diagnosed isolated agnathia have been reported. We present a case report and review of the literature of prenatally diagnosed agnathia. A 38-year-old woman (gravida 0, para 0) was referred to our hospital at 28 weeks and 3 days of gestation for fetal evaluation because of polyhydramnios and suspected facial anomalies. Three-dimensional ultrasonography and MRI indicated agnathia. Premature rupture of the membranes occurred before the parents could reach a decision on the postnatal treatment. We performed emergency cesarean section on the second day of the 33rd week of gestation. The neonate was deemed nonresuscitable and he died of airway obstruction shortly after birth. Because agnathia is associated with very poor prognosis, accurate prenatal diagnosis and detailed counseling should be promptly provided before unexpected delivery to the parents for the determination of postnatal treatment. PMID:27579201

  17. Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature.

    PubMed

    Kajiwara, Kazuhiro; Tanemoto, Tomohiro; Nagata, Chie; Okamoto, Aikou

    2016-01-01

    Agnathia is a rare disease characterized by the absence of a mandible. Few cases of prenatally diagnosed isolated agnathia have been reported. We present a case report and review of the literature of prenatally diagnosed agnathia. A 38-year-old woman (gravida 0, para 0) was referred to our hospital at 28 weeks and 3 days of gestation for fetal evaluation because of polyhydramnios and suspected facial anomalies. Three-dimensional ultrasonography and MRI indicated agnathia. Premature rupture of the membranes occurred before the parents could reach a decision on the postnatal treatment. We performed emergency cesarean section on the second day of the 33rd week of gestation. The neonate was deemed nonresuscitable and he died of airway obstruction shortly after birth. Because agnathia is associated with very poor prognosis, accurate prenatal diagnosis and detailed counseling should be promptly provided before unexpected delivery to the parents for the determination of postnatal treatment. PMID:27579201

  18. Prenatal Diagnosis of Congenital Lipoid Adrenal Hyperplasia (CLAH) by Molecular Genetic Testing in Korean Siblings

    PubMed Central

    Ko, Hyun Sun; Lee, Seungok; Chae, Hyojin; Choi, Sae Kyung; Kim, Myungshin; Park, In Yang; Suh, Byung Kyu

    2011-01-01

    Congenital lipoid adrenal hyperplasia (CLAH) is caused by mutations to the steroidogenic acute regulatory protein (StAR) gene associated with the inability to synthesize all adrenal and gonadal steroids. Inadequate treatment in an infant with this condition may result in sudden death from an adrenal crisis. We report a case in which CLAH developed in Korean siblings; the second child was prenatally diagnosed because the first child was affected and low maternal serum estriol was detected in a prenatal screening test. To our knowledge, this is the first prenatal diagnosis of the Q258X StAR mutation, which is the only consistent genetic cluster identified to date in Japanese and Korean populations. PMID:22028173

  19. Cell-free fetal DNA in amniotic fluid supernatant for prenatal diagnosis.

    PubMed

    Soltani, M; Nemati, M; Maralani, M; Estiar, M A; Andalib, S; Fardiazar, Z; Sakhinia, E

    2016-01-01

    In widespread conviction, amniotic fluid is utilized for prenatal diagnosis. Amniotic fluid supernatant is usually discarded, notwithstanding being a good source of fetal DNA. The aim of the present study was to assess cell-free fetal DNA extracted from amniotic fluid supernatant for application in prenatal diagnosis such as gender determination and early diagnosis of β-thalassemia. Samples of amniotic fluid of 70 pregnant women were collected and went through routine tests along with tests for cell-free fetal DNA from amniotic fluid supernatant. The DNA in the amniotic fluid supernatant was extracted and analyzed for gender determination by PCR and Real-time PCR. ARMS-PCR was applied to test early diagnosis of IVS II-I mutation (common β-thalassemia mutation) and E7V mutation for sickle cell anemia using DNA extracted from the amniotic fluid supernatant. Using the cell-free fetal DNA extracted from the amniotic fluid supernatant, the sensitivity of PCR and Real-time PCR for gender detection was compared with the routine cytogenetic method. The fetus tested for sickle cell anemia and β-thalassemia was observed to be healthy but heterozygous for IVS II-I mutation. The findings indicated that cell-free fetal DNA from amniotic fluid supernatant can be a good source of fetal DNA and be used in early prenatal diagnosis since because of its fast and accurate application. Therefore, it would be suggested that the amniotic fluid supernatant's disposal is prevented because if the tests needs to be repeated, cell-free fetal DNA extracted from the amniotic fluid supernatant can be used as an alternative source for prenatal diagnosis. PMID:27188728

  20. Cell-free fetal DNA in amniotic fluid supernatant for prenatal diagnosis.

    PubMed

    Soltani, M; Nemati, M; Maralani, M; Estiar, M A; Andalib, S; Fardiazar, Z; Sakhinia, E

    2016-04-30

    In widespread conviction, amniotic fluid is utilized for prenatal diagnosis. Amniotic fluid supernatant is usually discarded, notwithstanding being a good source of fetal DNA. The aim of the present study was to assess cell-free fetal DNA extracted from amniotic fluid supernatant for application in prenatal diagnosis such as gender determination and early diagnosis of β-thalassemia. Samples of amniotic fluid of 70 pregnant women were collected and went through routine tests along with tests for cell-free fetal DNA from amniotic fluid supernatant. The DNA in the amniotic fluid supernatant was extracted and analyzed for gender determination by PCR and Real-time PCR. ARMS-PCR was applied to test early diagnosis of IVS II-I mutation (common β-thalassemia mutation) and E7V mutation for sickle cell anemia using DNA extracted from the amniotic fluid supernatant. Using the cell-free fetal DNA extracted from the amniotic fluid supernatant, the sensitivity of PCR and Real-time PCR for gender detection was compared with the routine cytogenetic method. The fetus tested for sickle cell anemia and β-thalassemia was observed to be healthy but heterozygous for IVS II-I mutation. The findings indicated that cell-free fetal DNA from amniotic fluid supernatant can be a good source of fetal DNA and be used in early prenatal diagnosis since because of its fast and accurate application. Therefore, it would be suggested that the amniotic fluid supernatant's disposal is prevented because if the tests needs to be repeated, cell-free fetal DNA extracted from the amniotic fluid supernatant can be used as an alternative source for prenatal diagnosis.

  1. Advances in prenatal diagnosis of congenital diaphragmatic hernia.

    PubMed

    Benachi, Alexandra; Cordier, Anne-Gaël; Cannie, Mieke; Jani, Jacques

    2014-12-01

    Over the past 20 years, prenatal detection of congenital diaphragmatic hernia (CDH) has improved worldwide, reaching up to 60% in Europe. Pulmonary hypoplasia and persistent pulmonary hypertension are the two main determinants of neonatal mortality and morbidity, so new tools have been focused on their evaluation. Fetal surgery for severe cases requires proper evaluation of the prognosis of fetuses with CDH. Observed-to-expected lung-to-head ratio, liver position, and total lung volume measured by magnetic resonance are the prognostic factors most often used, and have been shown to correlate not only with neonatal mortality but also with morbidity. In daily practice, pulmonary hypertension by itself, although most often associated with lung hypoplasia, is more difficult to predict. PMID:25306469

  2. Prenatal ultrasonic diagnosis of obstructive bowel disease: a retrospective analysis.

    PubMed

    Heydanus, R; Spaargaren, M C; Wladimiroff, J W

    1994-11-01

    Fetal obstructive bowel disease was diagnosed in 29 patients at 22-37 weeks (median 32 weeks) of gestation, seven (24 per cent) of whom also displayed other anomalies. Polyhydramnios was present in 20/29 cases (69 per cent). An abnormal karyotype existed in 7/29 cases (24 per cent), of which six were diagnosed prenatally (trisomy 21, n = 5; 69,XXX, n = 1) and one postnatally (trisomy 21). There was always an association with the ultrasonic 'double bubble' sign. Obstructive bowel disease was confirmed postnatally in 20/29 (69 per cent) cases, i.e., oesophageal atresia (n = 1), duodenal obstruction (n = 12), and small bowel obstruction (n = 7). Other anomalies existed in 6/29 (21 per cent) cases, i.e., multicystic kidney (n = 1) and multiple congenital anomalies (n = 5). The perinatal mortality rate was 35 per cent (7/20). PMID:7877951

  3. [Prenatal diagnosis and treatments of intrauterine growth retardation (author's transl)].

    PubMed

    Kaneoka, T; Shimizu, H; Matsuoka, I; Taguchi, S; Shirakawa, K

    1982-02-01

    Prenatal management consisting of bed rest, high protein diet and oral administration of allylestrenol was assessed in prospective studies of 22 IUGR pregnancies, in which ultrasonographically determined fetal body weight was less than 10th percentile of Japanese population. In these cases, the gestational age was ascertained and corrected in the first trimester of pregnancy by the routine sonar measurements of CRL and BPD. Early in the third trimester, the fetal body weight was estimated by BPD and AC using the method of Warsof et al. Following the prenatal treatment, sonar measurements and biochemical determinations of maternal plasma and urinary E3, plasma HPL and progesterone, and serum HSAP and LAP were made biweekly. As results: (1) The fetal estimated body weight, averaging initially 1431 +/- 284 g at 33.8 +/- 2.1 weeks of gestation, increased finally up to 2612 +/- 451 g at 39.5 +/- 1.8 weeks. (2) Average delta/week weight gain, being 212 +/- 67 g in these cases, exceeded significantly that, being 162 +/- 43 g, of normal 50th percentile level. (3) Fifty percent of the newborn was larger than 10th percentile of normal population, at the delivery. (4) Neonatal birth weight correlated significantly with finally estimated fetal body weight (r = 0.82, Y = 1.01 X + 17.5). (5) Maternal plasma E3, which was initially low in 20 out of 22 cases (91%), being 2.1 +/- 1.5 ng/ml, elevated to 4.1 +/- 3.6 ng/ml following 2 weeks treatment. Urinary E3 increased significantly from 14.0 +/- 6.9 mg/day to 23.7 +/- 11.2 mg/day. Plasma progesterone raised significantly from 110 +/- 14 ng/ml to 133 +/- 31 ng/ml. Those results suggested that maternal increases in steroid levels were at least partly due to a stimulation of placental function by allylestrenol.

  4. Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

    PubMed Central

    Zeevi, David A.; Altarescu, Gheona; Weinberg-Shukron, Ariella; Zahdeh, Fouad; Dinur, Tama; Chicco, Gaya; Herskovitz, Yair; Renbaum, Paul; Elstein, Deborah; Levy-Lahad, Ephrat; Rolfs, Arndt; Zimran, Ari

    2015-01-01

    BACKGROUND. Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic. Here, we have addressed this pitfall and devised a universal strategy for rapid NIPD of a prevalent mutation in the Ashkenazi Jewish (AJ) population. METHODS. Pregnant AJ couples, carrying mutation(s) in GBA, which encodes acid β-glucosidase, were recruited at the SZMC Gaucher Clinic. Targeted next-generation sequencing of GBA-flanking SNPs was performed on peripheral blood samples from each couple, relevant mutation carrier family members, and unrelated individuals who are homozygotes for an AJ founder mutation. Allele-specific haplotypes were constructed based on linkage, and a consensus Gaucher disease–associated founder mutation–flanking haplotype was fine mapped. Together, these haplotypes were used for NIPD. All test results were validated by conventional prenatal or postnatal diagnostic methods. RESULTS. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study. The consensus mutation–flanking haplotype aided diagnosis for 6 of 9 founder mutation alleles. CONCLUSIONS. The founder NIPD method developed and described here is rapid, economical, and readily adaptable for prenatal testing of prevalent autosomal recessive disease-causing mutations in an assortment of worldwide populations. FUNDING. SZMC, Protalix Biotherapeutics Inc., and Centogene AG. PMID:26426075

  5. Application of fetal DNA in maternal plasma for noninvasive prenatal diagnosis.

    PubMed

    Chiu, Rossa W K; Lo, Y M Dennis

    2002-01-01

    Prenatal diagnosis of fetal genetic conditions is a standard part of modern obstetric care. Many of the current methods rely on invasive methods and are associated with an inherent risk of fetal loss. Consequently, there has been a long-term goal for development of noninvasive prenatal diagnostic methods. In 1997, the presence of fetal DNA in maternal plasma was first discovered through the detection of Y-chromosome-specific sequences in the plasma of women conceived with male fetuses. This discovery has opened up new possibilities in the development of noninvasive prenatal diagnostic methods through a source of fetal genetic material that could be conveniently accessible simply through the collection of a maternal peripheral blood sample. To date, there have been numerous reported applications, including fetal RhD genotyping, prenatal diagnosis of sex-linked disorders, paternally inherited genetic diseases and some pregnancy-associated conditions, including preeclampsia. More recently, there have been significant new developments with expanding number of potential applications.

  6. Non-invasive Prenatal Diagnosis for BRCA Mutations - a Qualitative Pilot Study of Health Professionals' Views.

    PubMed

    Bennett, Jade; Chitty, Lyn; Lewis, Celine

    2016-02-01

    Non-invasive prenatal diagnosis (NIPD) is a rapidly advancing approach that allows diagnostic testing based on analysis of cell free DNA in maternal plasma. This study aimed to explore the views of health professionals regarding the use of NIPD for BRCA1/2 mutations. Qualitative semi-structured interviews were conducted with eight participants. Whilst participants viewed NIPD in general as a positive step forward in prenatal testing, they were cautious about its use for BRCA testing. Significant ethical concerns emerged regarding testing prenatally for an adult onset condition, that is not fully penetrant, and the possibility of abrogating the rights of the future child to genetic autonomy. Nevertheless, participants did identify some situations whereby the test might be beneficial, such as for individuals with very negative and traumatic personal experiences of cancer desiring reassurance or wanting to prevent passing on the condition. NIPD was also seen as having benefits over invasive testing and pre-implantation genetic diagnosis, the only other options currently available to test prenatally for this condition. Exploring the views of a wider range of clinical specialties as well as patients at risk of hereditary breast cancer would be beneficial. PMID:26174937

  7. Prenatal diagnosis and late termination: a legal perspective.

    PubMed

    Skene, L

    1995-02-01

    The purpose of prenatal screening is obviously to identify genetic and other disorders before a child is born. In the majority of cases, the intention is that the pregnancy should be terminated if the child is found to be affected by a serious disorder. Despite this expectation, the law in Victoria does not recognize fetal abnormality as a ground for abortion. For an abortion to be lawful, the doctor must honestly believe, on reasonable grounds, that the abortion is 'necessary to preserve the woman from a serious danger to her life or her physical or mental health' and that the abortion is 'not out of proportion to the danger to be averted' (the Menhennitt rules). Although the danger to health has been extended to include danger on economic and social grounds, it is still necessary for a doctor to base the decision to abort on the risk to the mother's health, and not on the abnormal fetus. When the fetus is older, a doctor may be charged with child destruction as well as abortion. This requires proof that the doctor 'unlawfully cause[d] such child to die' and acted 'with intent to destroy the life of a child capable of being born alive'. These terms are open to interpretation but it is not necessarily a defence that the child had a serious abnormality. PMID:7771995

  8. Adrenal cytomegaly: two cases detected by prenatal diagnosis.

    PubMed

    Noguchi, Shin-ichi; Masumoto, Kouji; Taguchi, Tomoaki; Takahashi, Yukiko; Tsuneyoshi, Masazumi; Suita, Sachiyo

    2003-10-01

    We report our experience with two cases of adrenal cytomegaly, both of which were detected as cystic adrenal masses during prenatal ultrasonographic examinations. In Case 1, a left suprarenal cystic mass was detected in the fetus at 25 weeks of gestation. The mass, measuring 7 cm in diameter, did not show any change in size and was resected 26 days after birth. In Case 2, a right suprarenal lesion was found at 30 weeks of gestation. The cystic lesion, measuring 2 cm x 1.5 cm, did not change in size and was resected 3 months after birth. Adrenal cytomegaly is still not well known. It is characterized by the presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. This condition is thought to be a degenerative process but not a malignancy. Adrenal cytomegaly rarely forms cysts. It seemed to be impossible to diagnose preoperatively in our cases. Because of the difficulty of differentiating between cystic adrenal cytomegaly and other cystic diseases such as neuroblastoma, operative intervention is required in cases where the cysts do not decrease in size. Further study of a larger number of cases is needed to establish an optimal treatment protocol for these tumours.

  9. Fitting observed and theoretical choices - women's choices about prenatal diagnosis of Down syndrome.

    PubMed

    Seror, Valerie

    2008-05-01

    Choices regarding prenatal diagnosis of Down syndrome - the most frequent chromosomal defect - are particularly relevant to decision analysis, since women's decisions are based on the assessment of their risk of carrying a child with Down syndrome, and involve tradeoffs (giving birth to an affected child vs procedure-related miscarriage). The aim of this study, based on face-to-face interviews with 78 women aged 25-35 with prior experience of pregnancy, was to compare the women' expressed choices towards prenatal diagnosis with those derived from theoretical models of choice (expected utility theory, rank-dependent theory, and cumulative prospect theory). The main finding obtained in this study was that the cumulative prospect model fitted the observed choices best: both subjective transformation of probabilities and loss aversion, which are basic features of the cumulative prospect model, have to be taken into account to make the observed choices consistent with the theoretical ones. PMID:17806133

  10. Prenatal Diagnosis: A Directive Approach to Genetic Counseling Using Decision Analysis 1

    PubMed Central

    Pauker, Susan P.; Pauker, Stephen G.

    1977-01-01

    The decision which prospective parents face concerning mid-trimester amniocentesis for prenatal diagnosis was examined by decision analysis. The prospective parents' decision depends on the likelihood of the birth of a child affected by a genetic disorder, the risk of amniocentesis, and the probability that the diagnoses provided by the amniocentesis will be correct. The couple's decision must also depend on their attitudes toward each possible outcome. The likelihoods of the outcomes can be obtained from appropriate medical consultation, while the relative costs or burdens of the outcomes should be obtained from the prospective parents. A truly informed decision for this couple can then be formulated from these probabilities and values, thus allowing genetic counseling to be more directive. The technique is illustrated for the prenatal diagnosis of Down's syndrome, meningomyelocele, and Duchenne muscular dystrophy. PMID:142379

  11. [Placenta accreta, a growing problem. Prenatal diagnosis as successful treatment].

    PubMed

    Noguera Sánchez, Marcelo Fidias; Krivitzky, Samuel Karchmer; Rabadán Martínez, César Esli; Sánchez, Pedro Antonio

    2013-02-01

    Placenta accreta is recognized as a catastrophic disease in obstetrics. Diagnosed incidentally, it has been a rare disease in previous decades prior indiscriminate use of cesarean delivery. The World Health Organization has recently highlighted this disease as a new pandemic, which is directly related to patients who have two or more caesarean sections. Our country keeps high rates of caesarean section and therefore this problem will be increasing in diagnosis. It is necessary that medical units made ad hoc clinical guidelines, for prompt intervention in these cases. Early diagnosis should be given priority in women with these risk characteristics. With the advent of high-resolution sonography, specific images have been identified supporting the diagnosis during pregnancy; likewise, multidisciplinary treatments are especially of interest. The interventional radiology offers treatments semiconservative that have proven to reduce morbidity and mortality.

  12. A Population-Based Study of the Association of Prenatal Diagnosis With Survival Rate for Infants With Congenital Heart Defects

    PubMed Central

    Oster, Matthew E.; Kim, Christopher H.; Kusano, Aaron S.; Cragan, Janet D.; Dressler, Paul; Hales, Alice R.; Mahle, William T.; Correa, Adolfo

    2015-01-01

    Prenatal diagnosis has been shown to improve preoperative morbidity in newborns with congenital heart defects (CHDs), but there are conflicting data as to the association with mortality. We performed a population-based, retrospective, cohort study of infants with prenatally versus postnatally diagnosed CHDs from 1994 to 2005 as ascertained by the Metropolitan Atlanta Congenital Defects Program. Among infants with isolated CHDs, we estimated 1-year Kaplan-Meier survival probabilities for prenatal versus postnatal diagnosis and estimated Cox proportional hazard ratios adjusted for critical CHD status, gestational age, and maternal race/ethnicity. Of 539,519 live births, 4,348 infants had CHDs (411 prenatally diagnosed). Compared with those with noncritical defects, those with critical defects were more likely to be prenatally diagnosed (58% vs 20%, respectively, p <0.001). Of the 3,146 infants with isolated CHDs, 1-year survival rate was 77% for those prenatally diagnosed (n = 207) versus 96% for those postnatally diagnosed (n = 2,939, p <0.001). Comparing 1-year survival rate among those with noncritical CHDs alone (n = 2,455) showed no difference between prenatal and postnatal diagnoses (96% vs 98%, respectively, p = 0.26), whereas among those with critical CHDs (n = 691), prenatally diagnosed infants had significantly lower survival rate (71% vs 86%, respectively, p <0.001). Among infants with critical CHDs, the adjusted hazard ratio for 1-year mortality rate for those prenatally versus postnatally (reference) diagnosed was 2.51 (95% confidence interval 1.72 to 3.66). In conclusion, prenatal diagnosis is associated with lower 1-year survival rate for infants with isolated critical CHDs but shows no change for those with isolated noncritical CHDs. More severe disease among the critical CHD subtypes diagnosed prenatally might explain these findings. PMID:24472597

  13. Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003.

    PubMed

    Crider, Krista S; Olney, Richard S; Cragan, Janet D

    2008-04-01

    In recent years, prenatal diagnosis and elective pregnancy termination have affected the reported birth prevalence of trisomies 13 and 18. We examined the prevalence and characteristics of these conditions using 1994-2003 data from a population-based surveillance system, the Metropolitan Atlanta Congenital Defects Program. Including fetal deaths and elective terminations increased the number of affected pregnancies by 58.7% for trisomy 13 and 72.2% for trisomy 18. Prenatal cytogenetic testing was reported in 70.8% of trisomy 13 cases and 76.1% of trisomy 18 cases. Among those with prenatal cytogenetic tests, 60.8% of trisomy 13 and 59.7% of trisomy 18 cases were electively terminated. Compared with non-Hispanic whites, non-Hispanic black race was associated with a decreased frequency of prenatal cytogenetic testing for both trisomy 13 and trisomy 18 (OR 0.24, 95% CI: 0.08-0.78 and OR 0.32, 95% CI: 0.14-0.69, respectively). The reported rates of prenatal cytogenetic testing remained stable throughout the period. As expected, maternal age > or =35 years was a risk factor for both conditions. However, while 67.1% (n = 55) of the trisomy 18 case mothers were > or =35 years, only 46.9% (n = 15) of the trisomy 13 case mothers were > or =35 years. Among live-born infants, the sex ratio among trisomy 18 infants showed an increased proportion of females: 60.4% female versus 39.6% male. However, the proportion was 48.3% female and 51.7% male among fetuses that were electively terminated in the second trimester. Inclusion of pregnancies that are prenatally diagnosed is critical for accurate surveillance and population-based analyses of these conditions. PMID:18348276

  14. In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.

    PubMed Central

    Rumsby, G; Honour, J W

    1990-01-01

    A simple, rapid, non-radioactive method for detecting homozygous deletions/conversions of the steroid 21-hydroxylase gene is described. In our experience this method will be useful for first trimester prenatal diagnosis of congenital adrenal hyperplasia in 17% of families of a child with the salt losing form. This test includes an internal control to monitor the success of amplification. Images PMID:2277381

  15. Prenatal diagnosis and the transformation of the epistemic space of human heredity.

    PubMed

    Löwy, Ilana

    2013-01-01

    The introduction of new techniques of prenatal diagnosis in the 1960s transformed already back then, and continues to transform, the epistemic space of human heredity. These techniques - like karyotyping, amniocentesis, obstetrical ultrasound, and, more recently, analysis of free foetal DNA in maternal blood - modify the way in which people influence the transmission of traits to their offspring and thus have the potential to define what a "normal," "acceptable," or "valuable" human being is.

  16. Prenatal diagnosis of a 12q22q23.2 interstitial deletion by array CGH in a malformed fetus.

    PubMed

    Kremer, Valérie; Girard, Françoise; Gasser, Bernard; Marcellin, Luc; Christmann, Dominique; Nisand, Israël; Schmitt, Evelyne; Florent, Sylvie; Flori, Elisabeth

    2012-04-01

    We report the prenatal diagnosis of a 12q22q23.2 de novo interstitial deletion performed by array based comparative genomic hybridization (array CGH) in a fetus with cystic hygroma colli, intrauterine growth retardation, microcephaly and micrognathism. Haploinsufficiency for insuline-like growth factor 1 gene (IGF1), which is mapped in the deleted region, is suggested because of its implication in prenatal and postnatal growth and in neuronal maturation. This case demonstrates the contribution of array CGH in prenatal diagnosis for detecting small unbalanced chromosomal abnormalities in malformed fetuses and, subsequently, for genetic counselling. PMID:22425634

  17. Sonographic Findings in Fetal Renal Vein Thrombosis.

    PubMed

    Gerber, Rebecca E; Bromley, Bryann; Benson, Carol B; Frates, Mary C

    2015-08-01

    We present the sonographic findings of fetal renal vein thrombosis in a series of 6 patients. The mean gestational age at diagnosis was 31.2 weeks. Four cases were unilateral, and 2 were bilateral. The most common findings were renal enlargement and intrarenal vascular calcifications, followed by increased renal parenchymal echogenicity. Inferior vena cava thrombosis was found in 4 patients and common iliac vein thrombosis in 2. Fetal renal vein thrombosis is an uncommon diagnosis with characteristic sonographic findings. The presence of these findings should prompt Doppler interrogation of the renal vein and inferior vena cava to confirm the diagnosis.

  18. [Eugenics' extension in the Spanish health care system through the prenatal diagnosis].

    PubMed

    Rodríguez Martín, Esteban

    2012-01-01

    The wide implantation of strategies of sifted or prenatal selection close to laws that protect the destruction of the human life before the childbirth in the whole world, they are giving place to an increasing number of eugenic abortions. In Spain, the law 2/2010 of the sexual and reproductive health and voluntary interruption of pregnancy there has supposed the liberalization of the eugenic abortion without term limit. In we make concrete, the sanitary national and international policies of prenatal selection of Down's Syndrome, which they chase to facilitate the total or partial destruction before the childbirth of this human group, submitting it to a few particular conditions of existence during his prenatal life in those who will be an object of a series of technologies of selection, they might be qualified of genocidal policies if we consider the definition of genocide given by United Nations. In consequence, the sanitary agent who takes part without objection in the above mentioned programs promoted by the principal agents, meets turned into a necessary cooperator of the abortion who justifies itself in the supposition of "foetal risk". We can conclude that we are present at an eugenic drift of the prenatal diagnosis that is opposite to the ethical beginning of the medical profession.

  19. Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

    PubMed

    Nahar, Risha; Puri, Ratna D; Saxena, Renu; Verma, Ishwar C

    2013-01-01

    Surveys of attitudes of individuals with deafness and their families towards genetic testing or prenatal diagnosis have mostly been carried out in the West. It is expected that the perceptions and attitudes would vary amongst persons of different cultures and economic background. There is little information on the prevailing attitudes for genetic testing and prenatal diagnosis for deafness in developing countries. Therefore, this study evaluates the motivations of Indian people with inherited hearing loss towards such testing. Twenty-eight families with history of congenital hearing loss (23 hearing parents with child/family member with deafness, 4 couples with both partners having deafness and 1 parent and child with deafness) participated in a semi-structured survey investigating their interest, attitudes, and intentions for using genetic and prenatal testing for deafness. Participants opinioned that proper management and care of individuals with deafness were handicapped by limited rehabilitation facilities with significant financial and social burden. Nineteen (68%) opted for genetic testing. Twenty-six (93%) expressed high interest in prenatal diagnosis, while 19 (73%) would consider termination of an affected fetus. Three hearing couples, in whom the causative mutations were identified, opted for prenatal diagnosis. On testing, all the three fetuses were affected and the hearing parents elected to terminate the pregnancies. This study provides an insight into the contrasting perceptions towards hearing disability in India and its influence on the desirability of genetic testing and prenatal diagnosis.

  20. Psychological aspects of therapeutic abortion after early prenatal diagnosis.

    PubMed

    Di Giusto, M; Lazzari, R; Giorgetti, T; Paesano, R; Pachi, A

    1991-01-01

    The early discovery of a fetal pathology creates a "crisis" situation fraught with psychic problems for the couple who must live through it. The Authors observed a group of patients in the second trimester of pregnancy. They had all requested therapeutic abortion since serious malformation of the fetus had been confirmed. By means of a questionnaire constructed for the purpose, certain characteristics of fetal malformation and of pregnancy were evidenced, as well as the way these were experienced by the patients. The immediate and delayed reactions to the diagnosis of malformation were also studied, as was the experience lived when faced with the choice of abortion. PMID:1752049

  1. Sonographic Findings of Hydropneumothorax.

    PubMed

    Nations, Joel Anthony; Smith, Patrick; Parrish, Scott; Browning, Robert

    2016-09-01

    Ultrasound is increasingly being used in examination of the thorax. The sonographic features of normal aerated lung, abnormal lung, pneumothorax, and intrapleural fluid have been published. The sonographic features of uncommon intrathoracic syndromes are less known. Hydropneumothorax is an uncommon process in which the thoracic cavity contains both intrapleural air and water. Few published examples of the sonographic findings in hydropneumothorax exist. We present 3 illustrative cases of the sonographic features of hydropneumothorax with comparative imaging and a literature review of the topic. PMID:27556194

  2. Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma

    PubMed Central

    Wang, Yaoshen; Chen, Chao; Gao, Changxin; Yu, Song; Liu, Yan; Song, Wei; Asan; Zhu, Hongmei; Yang, Ling; Deng, Hongmei; Su, Yue; Yi, Xin

    2016-01-01

    Background Since the discovery of cell-free foetal DNA in the plasma of pregnant women, many non-invasive prenatal testing assays have been developed. In the area of skeletal dysplasia diagnosis, some PCR-based non-invasive prenatal testing assays have been developed to facilitate the ultrasound diagnosis of skeletal dysplasias that are caused by de novo mutations. However, skeletal dysplasias are a group of heterogeneous genetic diseases, the PCR-based method is hard to detect multiple gene or loci simultaneously, and the diagnosis rate is highly dependent on the accuracy of the ultrasound diagnosis. In this study, we investigated the feasibility of using targeted capture sequencing to detect foetal de novo pathogenic mutations responsible for skeletal dysplasia. Methodology/Principal Findings Three families whose foetuses were affected by skeletal dysplasia and two control families whose foetuses were affected by other single gene diseases were included in this study. Sixteen genes related to some common lethal skeletal dysplasias were selected for analysis, and probes were designed to capture the coding regions of these genes. Targeted capture sequencing was performed on the maternal plasma DNA, the maternal genomic DNA, and the paternal genomic DNA. The de novo pathogenic variants in the plasma DNA data were identified using a bioinformatical process developed for low frequency mutation detection and a strict variant interpretation strategy. The causal variants could be specifically identified in the plasma, and the results were identical to those obtained by sequencing amniotic fluid samples. Furthermore, a mean of 97% foetal specific alleles, which are alleles that are not shared by maternal genomic DNA and amniotic fluid DNA, were identified successfully in plasma samples. Conclusions/Significance Our study shows that capture sequencing of maternal plasma DNA can be used to non-invasive detection of de novo pathogenic variants. This method has the potential

  3. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

    PubMed

    Traeger-Synodinos, Joanne; Harteveld, Cornelis L; Old, John M; Petrou, Mary; Galanello, Renzo; Giordano, Piero; Angastioniotis, Michael; De la Salle, Barbara; Henderson, Shirley; May, Alison

    2015-04-01

    Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially 'atypical' cases who often have complex genotype interactions). However, the haemoglobin disorders are unique among all genetic diseases in that identification of carriers is preferable by haematological (biochemical) tests rather than DNA analysis. These Best Practice guidelines offer an overview of recommended strategies and methods for carrier identification and prenatal diagnosis of haemoglobinopathies, and emphasize the importance of appropriately applying and interpreting haematological tests in supporting the optimum application and evaluation of globin gene DNA analysis.

  4. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

    PubMed Central

    Traeger-Synodinos, Joanne; Harteveld, Cornelis L; Old, John M; Petrou, Mary; Galanello, Renzo; Giordano, Piero; Angastioniotis, Michael; De la Salle, Barbara; Henderson, Shirley; May, Alison

    2015-01-01

    Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially ‘atypical' cases who often have complex genotype interactions). However, the haemoglobin disorders are unique among all genetic diseases in that identification of carriers is preferable by haematological (biochemical) tests rather than DNA analysis. These Best Practice guidelines offer an overview of recommended strategies and methods for carrier identification and prenatal diagnosis of haemoglobinopathies, and emphasize the importance of appropriately applying and interpreting haematological tests in supporting the optimum application and evaluation of globin gene DNA analysis. PMID:25052315

  5. Ethnicity, bioethics, and prenatal diagnosis: the amniocentesis decisions of Mexican-origin women and their partners.

    PubMed Central

    Browner, C H; Preloran, H M; Cox, S J

    1999-01-01

    Bioethical standards and counseling techniques that regulate prenatal diagnosis in the United States were developed at a time when the principal constituency for fetal testing was a self-selected group of White, well-informed, middle-class women. The routine use of alpha-fetoprotein (AFP) testing, which has become widespread since the mid-1980s, introduced new constituencies to prenatal diagnosis. These new constituencies include ethnic minority women, who, with the exception of women from certain Asian groups, refuse amniocentesis at significantly higher rates than others. This study examines the considerations taken into account by a group of Mexican-origin women who had screened positive for AFP and were deciding whether to undergo amniocentesis. We reviewed 379 charts and interviewed 147 women and 120 partners to test a number of factors that might explain why some women accept amniocentesis and some refuse. A woman's attitudes toward doctors, medicine, and prenatal care and her assessment of the risk and uncertainty associated with the procedure were found to be most significant. Case summaries demonstrate the indeterminacy of the decision-making process. We concluded that established bioethical principles and counseling techniques need to be more sensitive to the way ethnic minority clients make their amniocentesis choices. PMID:10553385

  6. [Prenatal diagnosis of fetal aortic stenosis with mitral insufficiency. Review of the ultrasound diagnosis and perinatal prognosis: a case report].

    PubMed

    Iglesias-Román, Nuria; Alvarez, Teresa; Bravol, Coral; Pérez, Ricardo; Gámez, Francisco; De León Luis, Juan

    2014-09-01

    This is a report about a case of prenatal diagnosis of critical fetal aortic stenosis with severe mitral valve insufficiency in a 35+6 weeks fetus. Aortic stenosis represents 3% of congenital heart diseases, but its association with mitral regurgitation is quite unusual. Thanks to the latest advances in fetal ultrasonography we can now achieve a more precise diagnosis and we have been able to improve the understanding of its physiopathology. Based on this case we have reviewed the most recent literature about fetal aortic stenosis and mitral valve insufficiency, with the aim of summarizing its main physiopathological features, highlighting the clues and key points for its intrauterine diagnosis, describing its principal complications and summarizing its current treatment options. PMID:25412557

  7. Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound.

    PubMed Central

    Castiñeyra, G; Panal, M; Lopez Presas, H; Goldschmidt, E; Sánchez, J M

    1992-01-01

    A girl with Wiedemann-Rautenstrauch syndrome was born to a non-consanguineous couple. During the pregnancy, growth retardation particularly in the biparietal and abdominal diameters but not the femoral length was detected through serial ultrasound scans. When the woman became pregnant again, in spite of having been assessed as having a 25% risk of recurrence, the prenatal findings seen in her previous pregnancy led us to suggest sequential echography and a similar pattern of growth retardation was shown. After termination, the male fetus was found to be affected by Wiedemann-Rautenstrauch syndrome. This case shows that ultrasound examination can be a useful tool in the prenatal diagnosis of this rare, autosomal recessive syndrome. Images PMID:1619643

  8. New sonographic measures of peripheral nerves: a tool for the diagnosis of peripheral nerve involvement in leprosy

    PubMed Central

    Frade, Marco Andrey Cipriani; Nogueira-Barbosa, Marcello Henrique; Lugão, Helena Barbosa; Furini, Renata Bazan; Marques, Wilson; Foss, Norma Tiraboschi

    2013-01-01

    To evaluate ultrasonographic (US) cross-sectional areas (CSAs) of peripheral nerves, indexes of the differences between CSAs at the same point (∆CSAs) and between tunnel (T) and pre-tunnel (PT) ulnar CSAs (∆TPTs) in leprosy patients (LPs) and healthy volunteers (HVs). Seventy-seven LPs and 49 HVs underwent bilateral US at PT and T ulnar points, as well as along the median (M) and common fibular (CF) nerves, to calculate the CSAs, ∆CSAs and ∆TPTs. The CSA values in HVs were lower than those in LPs (p < 0.0001) at the PT (5.67/9.78 mm2) and T (6.50/10.94 mm2) points, as well as at the M (5.85/8.48 mm2) and CF (8.17/14.14 mm2) nerves. The optimum CSA- receiver operating characteristic (ROC) points and sensitivities/specificities were, respectively, 6.85 mm2 and 68-85% for the PT point, 7.35 mm2 and 71-78% for the T point, 6.75 mm2 and 62-75% for the M nerve and 9.55 mm2 and 81-72% for the CF nerve. The ∆CSAs of the LPs were greater than those of the HVs at the PT point (4.02/0.85; p = 0.007), T point (3.71/0.98; p = 0.0005) and CF nerve (2.93/1.14; p = 0.015), with no difference found for the M nerve (1.41/0.95; p = 0.17). The optimum ∆CSA-ROC points, sensitivities, specificities and p-values were, respectively, 1.35, 49%, 80% and 0.003 at the PT point, 1.55, 55-85% and 0.0006 at the T point, 0.70, 58-50% and 0.73 for the M nerve and 1.25, 54-67% and 0.022 for the CF nerve. The ∆TPT in the LPs was greater than that in the HVs (4.43/1.44; p <0.0001). The optimum ∆TPT-ROC point was 2.65 (90% sensitivity/41% specificity, p < 0.0001). The ROC analysis of CSAs showed the highest specificity and sensitivity at the PT point and CF nerve, respectively. The PT and T ∆CSAs had high specificities (> 80%) and ∆TPT had the highest specificity (> 90%). New sonographic peripheral nerve measurements (∆CSAs and ∆TPT) provide an important methodological improvement in the detection of leprosy neuropathy. PMID:23778664

  9. Prenatal diagnosis of sickle cell disease by the technique of PCR.

    PubMed

    Singh, Praneeta J; Shrivastava, A C; Shrikhande, A V

    2015-06-01

    Sickle cell disease (SCD) is prevalent in Central India and causes major morbidity and mortality. There is a lack of prenatal diagnostic facility near population affected with SCD. This is the pilot study in our region with the aim to establish prenatal diagnostic facility for the couples carrying sickle cell gene in Central India, in order to help them take an informed decision regarding fetus affected with SCD and also to calculate sensitivity of polymerase chain reaction (PCR) technique in our set up with follow up high performance liquid chromatography (HPLC) of baby's blood sample. Fetal sampling was done by chorionic villous biopsy. Extracted DNA was subjected to amplification refractory mutation system (ARMS-PCR) to detect sickle cell mutation (GAG → GTG) in the sixth codon of β globin gene. Follow-up HPLC was done to detect baby's Hb pattern. Prenatal diagnosis of sickle cell anemia was offered in total 37 cases out of which one (2.7 %) fetal sample was inadequate. Total 26 (70.27 %) fetuses had AS Hb genotype, 3 (8.11 %) had AA Hb genotype and 3 (8.11 %) had SS Hb genotype while remaining 4 (10.81 %) were given AA/AS Hb genotype. All couples with SS fetuses opted for MTP. Follow up HPLC was performed in 24 cases, out of which 18 (75 %) were correlated and 6 (25 %) were mismatched. In present study sensitivity of ARMS-PCR was 75 %. ARMS-PCR is a simple technique to be established initially for providing rapid prenatal diagnosis to the couples with known sickle cell mutation. The sensitivity of ARMS-PCR can be increased by using suitable techniques to detect maternal cell DNA contamination. PMID:25825564

  10. Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies.

    PubMed

    Fucharoen, S; Winichagoon, P; Thonglairoam, V; Siriboon, W; Siritanaratkul, N; Kanokpongsakdi, S; Vantanasiri, C

    1991-03-01

    In this review, we describe a simple strategy to detect the three severe thalassemic diseases commonly found in Thailand. Hb Bart's hydrops fetalis can be detected unambiguously by ultrasonography at 18-20 weeks of gestation or detected early in the first trimester by the gene amplification technique. Prenatal diagnosis for homozygous beta-thalassemia is better performed in the second trimester by in vitro protein synthesis. This is because the molecular defects of some beta-thalassemias are still unknown and homozygosity of the same mutation is low. In contrast, beta-thalassemia/Hb E is easily detected, in the first trimester, by direct visualization on electrophoresis or by dot blot analysis of enzymatically amplified DNA with a set of nonradioactively labeled oligonucleotide probes complementary to the most common mutations. We also found that the beta/gamma synthesis ratio in homozygous Hb E is similar to that of beta-thalassemia/Hb E and DNA analysis is the only method to distinguish these two conditions in the couple at risk of having either beta-thalassemia/Hb E or asymptomatic homozygous Hb E. In 100 pregnancies studied, the diagnoses were achieved in 96 pregnancies. Complications leading to fetal loss were found in 3 pregnancies: one woman developed amnionitis after fetal blood sampling; one had amniotic fluid leakage after the biopsy, and the third, carrying a normal fetus, aborted 10 days after fetal blood sampling with urinary tract infection and high fever. However, these figures are compatible with other reports and the risks are significantly lower than that of thalassemic disease the fetus is facing. One case of beta-thalassemia/Hb E was incorrectly diagnosed prenatally as being Hb E trait. In twenty-five pregnancies (25%) prenatally diagnosed to carry affected fetuses it was decided to have abortion. This study shows the feasibility of prenatal diagnosis for thalassemic diseases in Thailand which, in addition to screening and genetic counseling

  11. Prenatal diagnosis of leukocyte adhesion deficiency type-1 (five cases from iran with two new mutations).

    PubMed

    Esmaeili, Behnaz; Ghadami, Mohsen; Fazlollahi, Mohammad Reza; Niroomanesh, Shirin; Atarod, Lida; Chavoshzadeh, Zahra; Moradi, Zeinab; Alizadeh, Zahra; Pourpak, Zahra

    2014-02-01

    Leukocyte adhesion deficiency type-1(LAD-1) is one of the immunodeficiency autosomal recessive diseases that results from mutation in integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) ITGB2 gene. The aim of this study was to investigate molecular prenatal diagnosis of LAD-1. Four pregnant women with five fetuses (one pregnancy was twin) with clinical and laboratory diagnosis of LAD-1 in their previous children were studied. The chorionic villus sampling (CVS) was obtained when mothers were in 10-12th weeks of gestation. Mutation analysis of ITGB2 gene for affected children revealed 3 misssense mutations (c.382G>A, a novel mutation, c.2146G>C, and c.715G>A) and one splice site novel mutation (c.1877+2G>A). All of Parents were heterozygous for these mutations. Consideration of affected gene regions for five CVS samples showed two homozygotes and one heterozygote for mutant allele and two homozygotes for normal allele. Interestingly, one of the twin fetuses was affected and another was normal. Briefly, two cases of CVS samples were affected and three cases of remained CVS samples were unaffected.This is the first report of prenatal diagnosis of LAD-1 from Iran with two new mutations that can be used for genetic and prenatal diagnosis for all patients suspected to LAD1 and can be helpful to prevent the birth of affected children with LAD-1. This abstract presented in the second international congress of Immunology, Asthma and Allergy, Tehran, Iran 2013.

  12. Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes.

    PubMed

    Pereira, Daniela Cardoso; Bussamra, Luiz Claudio Silva; Araujo Júnior, Edward; Drummond, Carolina Leite; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes; Aldrighi, José Mendes

    2013-01-01

    Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

  13. Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.

    PubMed

    Helfer, Talita Micheletti; Peixoto, Alberto Borges; Tonni, Gabriele; Araujo Júnior, Edward

    2016-09-01

    Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. According to suture commitment, craniosynostosis may affect a single suture or multiple sutures. There is a wide range of syndromes involving craniosynostosis and the most common are Apert, Pffeifer, Crouzon, Shaethre-Chotzen and Muenke syndromes. The underlying etiology of nonsyndromic craniosynostosis is unknown. Mutations in the fibroblast growth factor (FGF) signalling pathway play a crucial role in the etiology of craniosynostosis syndromes. Prenatal ultrasound`s detection rate of craniosynostosis is low. Nowadays, different methods can be applied for prenatal diagnosis of craniosynostosis, such as two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), computed tomography (CT) scan and, finally, molecular diagnosis. The presence of craniosynostosis may affect the birthing process. Fetuses with craniosynostosis also have higher rates of perinatal complications. In order to avoid the risks of untreated craniosynostosis, children are usually treated surgically soon after postnatal diagnosis. PMID:27622416

  14. Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs).

    PubMed

    Essawi, Mona L; Al-Attribi, Ghada M; Gaber, Khaled R; El-Harouni, Ashraf A

    2012-11-01

    Autosomal recessive childhood spinal muscular atrophy (SMAs) is the second most common neuromuscular disorder and a common cause of infant disability and mortality. SMA patients are classified into three clinical types based on age of onset, and severity of symptoms. About 94% of patients have homozygous deletion of exon 7 in survival motor neuron (SMN1) gene. The neuronal apoptosis inhibitory protein (NAIP) gene was found to be more frequently deleted in the severest form of the disease. This study aimed to comment on the implementation of genetic counseling and prenatal diagnosis of SMAs for 85 fetuses from 75 Egyptian couples at risk of having an affected child. The homozygous deletion of exon 7 in SMN1 gene and the deletion of exon 5 of the NAIP gene were detected using PCR-REFLP and multiplex PCR methods respectively. Eighteen fetuses showed homozygous deletion of exon 7 in SMN1 gene and deletion of exon 5 in NAIP gene. In conclusion prenatal diagnosis is an important tool for accurate diagnosis and genetic counseling that help decision making in high risk families. PMID:22921322

  15. Prenatal diagnosis of Chiari malformation with syringomyelia in the second trimester.

    PubMed

    Iruretagoyena, Jesus Igor; Trampe, Barbara; Shah, Dinesh

    2010-02-01

    Routine anatomic ultrasound performed in the second trimester has a detection rate of approximately 70-90% for fetal congenital abnormalities (Nyberg and Souter, J Ultrasound Med 2001;6:655-674). The central nervous system abnormalities are one of the most common ones detected. Chiari malformation is among the CNS abnormalities diagnosed in the fetal period (Bianchi et al., Fetology - diagnosis and management of the fetal patient, McGraw-Hill, 2000). The Arnold-Chiari malformation was first described in 1883 by Cleland (Romero et al., Prenatal diagnosis of congenital anomalies, Appleton and Lange, 1988). It is characterised by the prolapse of the hindbrain structures below the level of the foramen magnum. It can be associated with skeletal abnormalities and neurological dysfunction. In type I, a lip of cerebellum is downwardly displaced with the tonsils, but the fourth ventricle remains in the posterior fossa. This condition may coexist with syringomyelia, which is a cyst formation on the cervical portion of the spinal cord (Creasy et al., Maternal fetal medicine principles and practice, 2004). We present a case where Chiari type 1 and syringomyelia detected at 18 weeks of gestation. The reason for referral to our center was an abnormal inward posturing of both upper and lower extremities (minimal gross movement and almost inexistent range of motion on fetal joints). On further fetal evaluation, an abnormal brain ultrasound was identified. Prenatal diagnosis of Chiari type 1 malformation and syringomyelia is almost nonexistent when reviewing the literature is the reason why this case is presented.

  16. Terminating pregnancy after prenatal diagnosis--with a little help of professional ethics?

    PubMed

    Schmitz, Dagmar

    2012-07-01

    Termination of pregnancy after a certain gestational age and following prenatal diagnosis, in many nations seem to be granted with a special status to the extent that they by law have to be discussed within a predominantly medical context and have physicians as third parties involved in the decision-making process ('indication-based' approach). The existing legal frameworks for indication-based approaches, however, do frequently fail to provide clear guidance for the involved physicians. Critics, therefore, asked for professional ethics and professional institutions in order to provide normative guidance for the physicians in termination of pregnancy on medical grounds. After outlining the clinical pathway in an indication-based approach and the involved types of (clinical) judgements, this paper draws upon different understandings of professional ethics in order to explore their potential to provide normative guidance in termination of pregnancy on medical grounds. The analysis reveals that professional ethics will not suffice-neither as a set of established norms nor as internal morality-in order to determine the normative framework of indication-based approaches on termination of pregnancy. In addition, there seem to be considerable inconsistencies regarding the target and outcome between prenatal testing on the one hand and following termination of pregnancy on the other hand. A source of morality external to medicine has to be the basis of evaluation if a consistent and workable normative framework for termination of pregnancy and prenatal testing should be established.

  17. "Everything you need to know": how women's magazines structure prenatal diagnosis for women over 35.

    PubMed

    Beaulieu, A; Lippman, A

    1995-01-01

    The use of biomedical testing and genetic counselling is usually framed as something an individual woman chooses, with little consideration given to the context in which women make these choices. In order to understand something of the context in which women (35 and over) undergo prenatal diagnostic tests, we have surveyed the contents of 10 major women's magazines. We found that the stories told about the "older" pregnant woman and the risks attached to her pregnancy are highly selective. The dominant rhetoric used in these narratives suggests that women "need" to be informed of the facts of being pregnant when older (through reading magazine articles), that this need incurs a further need to find out the state of the fetus (through biomedical intervention), and that the pregnant woman can meet these needs by "choosing" prenatal diagnosis. These results illustrate how a "need" for prenatal testing gets created and suggest that to "choose" to be tested may be to partake of, not challenge, the mainstream biomedical assumptions about how the "older" pregnant woman will and should behave.

  18. Gene scene: Earlier, eventually more specific, prenatal genetic diagnosis in realm of possibility

    SciTech Connect

    Randall, T.

    1990-12-26

    A new genetic technique that can amplify the DNA of a single cell has flung open the window of opportunity for prenatal genetic diagnosis to just 3 days after conception, and even to the unfertilized egg. In vitro fertilization (IVF) specialists at the Institute of Obstetrics and Gynecology at London's Postgraduate medical School, Hammersmith Hospital have determined the sex of human embryos at the eight-cell stage of development from five couples at risk for X chromosome-linked diseases. The female embryos, which do not risk inheriting the disease, were then successfully implanted in the uterus and carried to full term.

  19. Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis

    PubMed Central

    David, Liji Sarah; Beck, Manisha Madhai; Bindra, Mandeep Singh; Arunachal, Gautham

    2015-01-01

    Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between. Alternative names for HI include- keratosis diffusafetalis, ichthyosis congenital, icthyosis fetalis, harlequin fetus and icthyosis congenital gravior. It is an autosomal recessive disorder with the majority of affected individuals being homozygous for mutation in the ABCA 12 gene. This condition presents with a wide range of severity and symptoms. Affected neonates usually do not survive beyond first few days of life. We are presenting prenatal diagnosis of a case of this rare condition. PMID:26675324

  20. Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene.

    PubMed

    Vondran, S; Edelmann, J; Holland, H; Wolf, C; Strenge, S; Thamm, B; Thiele, H; Froster, U G

    1999-01-01

    Prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD) is performed as a routine procedure in many laboratories. The major potential problem is an incorrect diagnosis that could be obtained due to contamination with maternal tissue. We report a case of mosaicism of the X-chromosomes confined to the placenta as a possible source of confusing results in prenatal diagnosis of DMD. To the best of our knowledge, this is the first reported case of this problem in a prenatal DMD diagnosis. PMID:10073911

  1. An important clue in the sonographic diagnosis of internal carotid artery agenesis: ipsilateral common carotid artery hypoplasia.

    PubMed

    Kaya, Omer; Yilmaz, Cengiz; Gulek, Bozkurt; Soker, Gokhan; Cikman, Gokalp; Inan, Ibrahim; Demirduzen, Selahaddin

    2014-01-01

    A 42-year-old female patient, who had been diagnosed with an occlusion of her left internal carotid artery (ICA) following Doppler ultrasonographic (US) and digitally-subtracted angiographic (DSA) examinations performed in an outer healthcare center in order to eliminate the underlying cause of her complaint of amorosis fugax, later applied to our hospital with the same complaint. At Doppler US performed in our hospital's radiology department, her right common carotid artery (CCA) was normal, but her left CCA was hypoplastic. The right internal artery (ICA) was validated as normal. At the left side, however, the ICA was apparent only as a stump and it did not demonstrate a continuity. The diagnosis of ICA agenesis was confirmed by the utilization of Doppler US, CT, and DSA imaging, and it was concluded also that ipsilateral CCA hypoplasia could be evaluated as an important clue to the diagnosis of ICA agenesis. PMID:25097789

  2. Association between sonographic diagnosis of fatty liver with histopathologic abnormalities and liver biopsy findings in middle age patient with non-alcoholic fatty liver disease

    PubMed Central

    Kalantari, Hamid; Moradi, Farhad; Hassanzade, Akbar

    2016-01-01

    Background: Liver biopsy is required to diagnose non-alcoholic steatohepatitis in patients with suspected non-alcoholic fatty liver disease (NAFLD). This study aimed to examine the relationship between sonographic diagnosis of fatty liver with histopathologic abnormalities and liver biopsy findings in patient with NAFLD. Materials and Methods: In this cross-sectional study, a total of 180 patients, with an age range of 18-60 year old, with NAFLD based on ultrasonograghic findings were evaluated. Age, sex, body mass index, diabetes mellitus, hypertension, family history of liver disease and laboratory parameters recorded for all patients. Hence, grade of steatosis and stage of fibrosis were evaluated by liver biopsy. Results: A total of 220 patients were enrolled. Liver biopsy was performed in 180 patients. Mean age was 43 ± 10.6 years old and 66% were male. Ultrasonograghic findings showed mild, moderate and severe NAFLD was define in 100 (55.5%), 72 (40%) and 8 (4.5%) of patients, respectively. Liver biopsies showed that steatosis scores of <5%, 5-33% and 33-66% was define in 56 (31%), 116 (64%) and 9 (5%) of patients, respectively. Furthermore, fibrosis was defined as follow; none 92 (51%), mild 68 (38%), moderate 11 (6%), bridging 5 (3%) and cirrhosis 3 (2%) patients. There was no statistically significant relationship between ultrasonograghic findings and steatosis scores (P = 0.44), but statistically significant relationship was found between ultrasonograghic findings and fibrosis stage (P = 0.017). Conclusion: Findings revealed that, in patients with NAFLD, ultrasonographic finding were not in associate to steatosis, but were in relation with fibrosis stage. PMID:27563632

  3. Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia

    PubMed Central

    Zhao, Rong; Ruan, Yan; Wang, Xin

    2015-01-01

    Objective: To investigate the feasibility of whole exome sequencing (WES) and whole genome re-sequencing (WGS) in the prenatal diagnosis of achondroplasia (ACH). Methods: Eleven highly suspected with ACH or hypochondroplasia (HCH) fetuses and their parents were enrolled in this study. Routine prenatal examinations were carried out in all pregnant women. WGS was performed for the detection of copy number variation (CNV). WES was conducted to determine the mutation of fibroblast growth factor receptor 3 (FGFR3) gene in one special family with rickets and dwarfism. Moreover, all subjects were performed Sanger sequencing for the screening of high frequent mutation sites in FGFR3 gene. Results: For ultrasound (US) examination, short femur was noted in all fetuses with FL less than 4SD and 2SD in 8 cases and one case compared with those of normal gestational weeks, respectively. CNV abnormality was identified in 5 cases, including heterozygous deletion in 4 cases and heterozygous duplication in one case. Among these variation, one case was acknowledged to be pathogenic, one case was identified as genomic polymorphism, while the pathogenicity remained unknown in other 3 cases. For the exome and Sanger sequencing, heterozygous mutation p.Tyr278Cys (833A>G) was noted in the fetus and husband of the special family, while homozygous c.1959+19G>A mutation was identified in another case. Conclusion: Multiple sequencing technologies may provide an additional diagnostic tool and facilitates genetic counseling in the patients with ACH. Further improvement of gene sequencing should be done in the prenatal diagnosis for the mutant screening in other genes. PMID:26770560

  4. Antenatal diagnosis of anophthalmia by three-dimensional ultrasound: a novel application of the reverse face view.

    PubMed

    Wong, H S; Parker, S; Tait, J; Pringle, K C

    2008-07-01

    The prenatal diagnosis of anophthalmia can be made on the demonstration of absent eye globe and lens on the affected side(s) on two-dimensional ultrasound examination, but when the fetal head position is unfavorable three-dimensional (3D) ultrasound may reveal additional diagnostic sonographic features, including sunken eyelids and small or hypoplastic orbit on the affected side(s). We present two cases of isolated anophthalmia diagnosed on prenatal ultrasound examination in which 3D ultrasound provided additional diagnostic information. The reverse face view provides valuable information about the orbits and the eyeballs for prenatal diagnosis and assessment of anophthalmia.

  5. A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.

    PubMed

    Nakagawa, Taku; Taniguchi-Ikeda, Mariko; Murakami, Yoshiko; Nakamura, Shota; Motooka, Daisuke; Emoto, Tomomi; Satake, Wataru; Nishiyama, Masahiro; Toyoshima, Daisaku; Morisada, Naoya; Takada, Satoshi; Tairaku, Shinya; Okamoto, Nobuhiko; Morioka, Ichiro; Kurahashi, Hiroki; Toda, Tatsushi; Kinoshita, Taroh; Iijima, Kazumoto

    2016-01-01

    Glycosylphosphatidylinositol (GPI) anchors tether proteins to the extracellular face of eukaryotic plasma membranes. Defects in the human GPI anchor biosynthetic pathway cause inherited GPI deficiencies (IGDs) characterized by multiple congenital anomalies: dysmorphic faces, developmental delay, hypotonia, and epilepsy. We report the case of a 6-year-old boy with severe psychomotor developmental delay, epilepsy, and decreased granulocyte surface expression of GPI-anchored protein that suggested autosomal recessive GPI deficiency. The case underwent target exome sequencing to screen for IGDs. Target exome sequencing of the proband identified an apparently homozygous c.808T > C (p.Ser270Pro) mutation in PIGN, a gene involved in the GPI anchor biosynthetic pathway. As his parents were expecting another child, genetic carrier screening was conducted for the parents. Direct sequencing of the parents identified a heterozygous c.808T > C PIGN mutation in the father but none in the mother. To identify the mother's mutation, we performed semi-quantitative real-time PCR of the PIGN exons and long PCR, identifying a microdeletion in PIGN (del exons 2-14). The proband had inherited this microdeletion from his mother. Prenatal diagnosis of the fetus revealed that it was a heterozygous carrier of the mother's pathogenic allele. Here, we report a sporadic case of inherited GPI deficiency with a PIGN mutation and the first case of prenatal diagnosis for GPI deficiency. PMID:26419326

  6. Prenatal diagnosis for beta-thalassemia major in the Iranian Province of Hormozgan.

    PubMed

    Nikuei, Pooneh; Hadavi, Valeh; Rajaei, Minoo; Saberi, Mozhgan; Hajizade, Fozieh; Najmabadi, Hossein

    2008-01-01

    beta-Thalassemias are a group of heterogenous recessive disorders common in many parts of the world. Despite the great advances in the treatment of thalassemia, there is so far no cure, but perhaps bone marrow transplantation (BMT) is a possibility. Prevention, using prenatal diagnosis and selective abortion in the cases where the fetus is found to be affected, should be considered as a sensible alternative. During the past 5 years, 112 couples have been referred to our Center for detection of their beta-thalassemia (beta-thal) carrier status. In this group, common and rare mutations were detected. Of these, 106 couples (94.6%) came for counseling during pregnancy and six (5.4%) came before becoming pregnant. Prenatal diagnosis was performed for the 106 couples at risk. Fetal DNA was obtained from both chorionic villus sampling (CVS) (99) and amniotic fluid (7). Using reverse hybridization, 64 (60.4%) were found to be heterozygous for a beta-thal mutation and 24 (22.6%) were normal. Eighteen (17.0%) were found to carry an affected fetus and these pregnancies were terminated. PMID:19065331

  7. Carrier detection and prenatal diagnosis in haemophilia in India: realities and challenges.

    PubMed

    Ghosh, K; Shetty, S; Pawar, A; Mohanty, D

    2002-01-01

    Organizing services for haemophilia in developing countries with few resources is a formidable task. There is wide variation in haemophilia care and management between developing and developed countries. The management of a genetic disorder such as haemophilia becomes difficult in developing countries where scanty resources are allocated mainly to nutrition and infectious diseases as a first priority. In a country such as India, with one billion people and with a wide diversity in cultural, educational and financial conditions, educating people about such diseases is difficult and will take a long time to have an effect on attitudes. Meanwhile, attempts are being made at several centres in India to develop carrier detection and prenatal diagnosis for this disease. Counselling a carrier for detection of her carrier status remains problematic in India because marriages are still largely arranged by the parents of prospective brides and bridegrooms. Hence, the very idea of communicating the carrier status to the bridegrooms' families may lead to cancellation of the marriages, and concealing the carrier status is associated with guilt both for the bride's parents as well as the bride. Prenatal diagnosis and carrier detection in India therefore must be discussed in this context.

  8. Prenatal diagnosis of left ventricular diverticulum and coarctation of the aorta.

    PubMed

    Hunter, L E; Pushparajah, K; Miller, O; Anderson, D; Simpson, J M

    2016-02-01

    Congenital left ventricular diverticulum (LVD) is a rare abnormality of the myocardium which has been detected previously in the fetus. Lesions have been reported from as early as 12 weeks' gestation but are more commonly detected in the mid-second trimester. Fetal presentation of LVD ranges from an abnormal four-chamber view of the heart, arrhythmia or isolated pericardial effusion to fetal hydrops with associated heart failure. Here, we describe the prenatal diagnosis of an infant with LVD originating from the left ventricular outflow tract associated with coarctation of the aorta. The diagnosis was confirmed postnatally by two-dimensional echocardiography and cardiac magnetic resonance imaging. We hypothesize that the lesion compromised antegrade flow into the transverse aortic arch, which may have contributed to underdevelopment of the aortic arch and subsequently the development of coarctation of the aorta. This is a unique case of LVD and coarctation of the aorta. PMID:26376444

  9. Sonographic Diagnosis in a Rare Aetiology of Neonatal Scrotal Swellings: A Case Report of Congenital Nephrotic Syndrome

    PubMed Central

    Grover, Shabnam Bhandari; Kumar, Nishith; Grover, Hemal; Taneja, Dinesh Kumar; Katyan, Amit

    2016-01-01

    Summary Background Common etiologies of scrotal swelling in neonates include hydrocoele, inguinal hernia and testicular torsion; less common is epididymo-orchitis. Congenital nephrotic syndrome (CNS), a rare entity, is known to present as progressive renal failure and its leading presentation with scrotal involvement has not been reported. Material/Methods We report a rare case of CNS with primary clinical presentation as scrotal cellulitis and epididymo-orchitis. In this neonate, scrotal and abdominal ultrasound examination was performed and the laboratory data were obtained. Results Sonography revealed bilaterally enlarged echogenic kidneys, testis and epididymis with echogenic peritoneal fluid tracking into both scrotal sacs. Laboratory data revealed proteinuria and severe depletion of serum IgG. Culture of the peritoneal fluid showed gram-negative organisms. A final diagnosis of CNS, complicated with peritonitis tracking into the scrotal sacs was arrived at. Conclusions CNS may have a rare presentation with distracting symptoms of scrotal cellulitis and epididymo-orchitis, as seen in our patient. However, diligent use of abdomino-scrotal sonography, supported by relevant laboratory data can clinch the accurate diagnosis. PMID:27757175

  10. Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis.

    PubMed

    van Lier, Margot G F; Korsse, Susanne E; Mathus-Vliegen, Elisabeth M H; Kuipers, Ernst J; van den Ouweland, Ans M W; Vanheusden, Kathleen; van Leerdam, Monique E; Wagner, Anja

    2012-02-01

    Peutz-Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life expectancy. This study was conducted to assess the attitude of PJS patients towards family planning, prenatal diagnosis (PND) and pregnancy termination, and pre-implantation genetic diagnosis (PGD). In a cross-sectional study, 61 adult PJS patients were asked to complete a questionnaire concerning genetic testing, family planning, PND and PGD. The questionnaire was completed by 52 patients (85% response rate, 44% males) with a median age of 44 (range 18-74) years. A total of 37 (71%) respondents had undergone genetic testing. In all, 24 respondents (46%, 75% males) had children. A total of 15 (29%) respondents reported that their diagnosis of PJS had influenced their decisions regarding family planning, including 10 patients (19%, 9/10 females) who did not want to have children because of their disease. Termination of pregnancy after PND in case of a foetus with PJS was considered 'acceptable' for 15% of the respondents, whereas 52% considered PGD acceptable. In conclusion, the diagnosis of PJS influences the decisions regarding family planning in one third of PJS patients, especially in women. Most patients have a negative attitude towards pregnancy termination after PND, while PGD in case of PJS is judged more acceptable. These results emphasise the importance of discussing aspects regarding family planning with PJS patients, including PND and PGD.

  11. Prenatal cytogenetic diagnosis--a current audit. A review of 2000 cases of prenatal cytogenetic diagnoses after amniocentesis, and comparisons with early experience.

    PubMed

    Bell, J A; Pearn, J H; Wilson, B H; Ansford, A J

    1987-01-01

    An audit of 2000 cases of prenatal cytogenetic diagnoses is presented. This comprises two consecutive series of 1000 cases (1974-1980 and 1980-1983). Chromosomal studies were performed after mid-trimester amniocentesis. For both series detailed results of the reasons for referral and the outcome of laboratory studies and pregnancy follow-up (in 95% of cases) are presented. In current practice 75% of prenatal cytogenetic diagnoses were for advanced maternal age. Ten per cent of tests were undertaken because of a family history of Down's syndrome. The detection rate of chromosomal abnormality in prenatal cytogenetic diagnoses was 2.06%. Two per cent of amniotic cell cultures failed to grow, necessitating a repeat amniocentesis. The rate of culture failure due to undefinable causes was 0.55%. Fetal loss after amniocentesis for prenatal cytogenetic diagnosis at 16 weeks' gestation has halved since 1980, with a current miscarriage rate of 0.6% within four weeks of the procedure. One maternal death (as a result of amniotic fluid embolism) and one case of amnionitis occurred in the first series of 1000 consecutive cases (up to 1980), but no such complication has occurred since. Secular trends in the indications for referral, laboratory complications, clinical outcome and diagnostic patterns are presented.

  12. KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.

    PubMed

    Ke, Hai-Ping; Jiang, Hu-Ling; Lv, Ya-Su; Huang, Yi-Zhou; Liu, Rong-Rong; Chen, Xiao-Ling; Du, Zhen-Fang; Luo, Yu-Qin; Xu, Chen-Ming; Fan, Qi-Hui; Zhang, Xian-Ning

    2014-08-01

    Epidermolytic palmoplantar keratoderma (EPPK) is the most frequent form of such keratodermas. It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months after birth. EPPK is generally caused by mutations of the KRT9 gene. More than 26 KRT9 gene mutations responsible for EPPK have been described (Human Intermediate Filament Database, www.interfil.org), and many of these variants are located within the highly-conserved coil 1A region of the α-helical rod domain of keratin 9. Unfortunately, there is no satisfactory treatment for EPPK. Thus, prenatal molecular diagnosis or pre-pregnancy diagnosis is crucial and benefits those affected who seek healthy descendants. In the present study, we performed amniotic fluid-DNA-based prenatal testing for three at-risk pregnant EPPK women from three unrelated southern Chinese families who carried the KRT9 missense mutations p.Arg163Trp and p.Arg163Gln, and successfully helped two families to bear normal daughters. We suggest that before the successful application of preimplantation genetic diagnosis (PGD), and noninvasive prenatal diagnosis of EPPK that analyzes fetal cells or cell-free DNA in maternal blood, prenatal genetic diagnosis by amniocentesis or chorionic villus sampling (CVS) offers a quite acceptable option for EPPK couples-at-risk to avoid the birth of affected offspring, especially in low- and middle-income countries.

  13. Prenatal diagnosis of congenital toxoplasmosis: comparative value of fetal blood and amniotic fluid using serological techniques and cultures.

    PubMed

    Fricker-Hidalgo, H; Pelloux, H; Muet, F; Racinet, C; Bost, M; Goullier-Fleuret, A; Ambroise-Thomas, P

    1997-09-01

    The prenatal diagnosis of congenital toxoplasmosis is mainly based on biological tests performed on fetal blood and amniotic fluid. We studied the performance of neonatal diagnosis procedures and the results of fetal blood and amniotic fluid analysis. Of 127 women who contracted toxoplasmosis and underwent prenatal diagnosis, the postnatal serological follow-up was long enough to definitively diagnose congenital toxoplasmosis in 19 cases and to exclude it in 27 cases. Prenatal diagnosis allowed the detection of 94.7 per cent (18/19) of the infected fetuses. The sensitivities of tests in amniotic fluid and fetal blood were equivalent, 88.2 per cent (15/17) and 87.5 per cent (14/16), respectively. In fetal blood, biological techniques were positive in 12/16 cases and in 2/16 cases, serological tests were the only positive sign. The specificities of tests in amniotic fluid and fetal blood were respectively 100 per cent (23/23) and 86.3 per cent (19/22) (three false-positive serological results). These results, added to the lower morbidity of amniocentesis compared with cordocentesis, might lead to cordocentesis being abandoned in the prenatal diagnosis of congenital toxoplasmosis.

  14. Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome.

    PubMed

    Chen, Chih-Ping

    2012-06-01

    With the advent of prenatal sonography, fetal overgrowth can be easily detected. Prenatal-onset overgrowth can be secondary to normal variants of familial tall stature, familial rapid maturation, diabetic macrosomia, and congenital nesidioblastosis, or prenatal-onset overgrowth can be primary due to pathological overgrowth disorders. This article provides a comprehensive review of the prenatal findings and the genetic diagnosis of some of the pathological prenatal-onset overgrowth disorders, such as Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome.

  15. Prenatal diagnosis: choices women make about pursuing testing and acting on abnormal results.

    PubMed

    Pryde, P G; Drugan, A; Johnson, M P; Isada, N B; Evans, M I

    1993-09-01

    Liberalization of abortion laws in several US states (e.g., New York and California) coincided with the development of prenatal techniques, which diagnose chromosomal abnormalities and biochemical disorders. Increased use of prenatal diagnostic services has not been accompanied by adequate examination of the decision making process women undergo when contemplating prenatal diagnosis, pregnancy termination, or experimental fetal therapy. The limited literature exploring these issues indicates that many women do not know as much as possible about the health of their fetus. Women who are at risk of abnormal pregnancy tend to become distressed and willing to accept invasive testing, even when they know the significant, albeit low, risks of such testing. Women's perceptions of risk, which stem from complex psychologic-phenomena, are likely to be very inconsistent with objective reality. Neither counseling nor education can easily change these misperceptions. Nevertheless, counseling can at least alter misperceptions enough so they move closer to objective reality. On the other hand, counseling can sway perceptions and choices made based on these perceptions. Decision making is even more complex and emotional when women encounter abnormalities. Considerable social, moral, and psychologic factors influence this process, making this a very problematic area to study. Almost all women who carry an abnormal fetus with a very serious prognosis and a high degree of diagnostic certainty chose to terminate the pregnancy. The decision is much more difficult for women carrying a fetus with less diagnostic or prognostic certainty. Insufficient data exists to determine how they handle these management decisions. Women tend to opt for abortion in cases of chromosomal abnormalities, regardless of the severity or certainty of the outcome. Women carrying a fetus with anatomic disorders with prognostic uncertainty or less severity choose to abort at lower rates. More research is needed to

  16. Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi.

    PubMed

    Paganini, Leda; Carlessi, Nicole; Fontana, Laura; Silipigni, Rosamaria; Motta, Silvia; Fiori, Stefano; Guerneri, Silvana; Lalatta, Faustina; Cereda, Anna; Sirchia, Silvia; Miozzo, Monica; Tabano, Silvia

    2015-01-01

    Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder that can be prenatally suspected or diagnosed based on established clinical guidelines. Molecular confirmation is commonly performed on amniocytes. The possibility to use fresh (CVF) and cultured (CVC) chorionic villi has never been investigated. To verify whether CVF and CVC are reliable sources of DNA to study fetal methylation, we used pyrosequencing to test the methylation level of a number of differentially methylated regions (DMRs) at several imprinted loci (ICR1, ICR2, H19, PWS/AS-ICR, GNASXL, GNAS1A, ZAC/PLAGL1, and MEST) and at non-imprinted MGMT and RASSF1A promoters. We analyzed these regions in 19 healthy pregnancies and highlighted stable methylation levels between CVF and CVC at ICR1, ICR2, GNASXL, PWS/AS-ICR, and MEST. Conversely, the methylation levels at H19 promoter, GNAS1A and ZAC/PLAGL1 were different in CVC compared to fresh CV. We also investigated ICR1 and ICR2 methylation level of CVF/CVC of 2 BWS-suspected fetuses (P1 and P2). P1 showed ICR2 hypomethylation, P2 showed normal methylation at both ICR1 and ICR2. Our findings, although limited to one case of BWS fetus with an imprinting defect, can suggest that ICR1 and ICR2, but not H19, could be reliable targets for prenatal BWS diagnosis by methylation test in CVF and CVC. In addition, PWS/AS-ICR, GNASXL, and MEST, but not GNAS1A and ZAC/PLAGL1, are steadily hemimethylated in CV from healthy pregnancies, independently from culture. Thus, prenatal investigation of genomic imprinting in CV needs to be validated in a locus-specific manner. PMID:26061650

  17. [Prenatal diagnosis of viral infections. A two year study in Strasbourg].

    PubMed

    Labouret, N; Cecille, A; Wendling, M J; Fritsch, S; Gut, J P; Stoll-Keller, F

    1999-05-01

    We report here the results of a 2-year study on the prenatal diagnosis of viral infections in Strasbourg. This screening was carried out by virus isolation, by PCR assay, or by detection of IgM fetal antibody for 98 pregnant women at risk of transmitting one of the viruses that causes fetal disease such as parvovirus B19 (B19), Herpesviruses [cytomegalovirus (CMV), varicella-zoster virus, herpes simplex virus] and rubella virus. A viral etiology was proven in 7 out 98 cases: PCR applied to B19 DNA detection was positive in 5 amniotic fluids (AF), 2 fetal serums and one ascitic liquid. The diagnosis of 2 cases of CMV infection was obtained by both PCR and virus isolation in AF from twins fetuses. The detection of specific IgM in maternal serum or fetal serum is useful to achieve the diagnosis but serological tests on other samples have no efficiency. No virus was found in any other specimen, but the genome of Toxoplasma gondii was detected by PCR in 1 of 17 AF samples analyzed at the Institut de Parasitologie. These findings show that PCR assay is a sensitive method for the positive diagnosis of intrauterine infection and promises to careful follow-up of the pregnancy. PMID:10418033

  18. Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential

    PubMed Central

    Stern, Harvey J.

    2014-01-01

    Preimplantation genetic diagnosis was developed nearly a quarter-century ago as an alternative form of prenatal diagnosis that is carried out on embryos. Initially offered for diagnosis in couples at-risk for single gene genetic disorders, such as cystic fibrosis, spinal muscular atrophy and Huntington disease, preimplantation genetic diagnosis (PGD) has most frequently been employed in assisted reproduction for detection of chromosome aneuploidy from advancing maternal age or structural chromosome rearrangements. Major improvements have been seen in PGD analysis with movement away from older, less effective technologies, such as fluorescence in situ hybridization (FISH), to newer molecular tools, such as DNA microarrays and next generation sequencing. Improved results have also started to be seen with decreasing use of Day 3 blastomere biopsy in favor of polar body or Day 5 trophectoderm biopsy. Discussions regarding the scientific, ethical, legal and social issues surrounding the use of sequence data from embryo biopsy have begun and must continue to avoid concern regarding eugenic or inappropriate use of this technology. PMID:26237262

  19. Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?

    PubMed Central

    Miny, Peter; Wenzel, Friedel; Tercanli, Sevgi; Filges, Isabel

    2013-01-01

    Microarrays have replaced conventional karyotyping as a first-tier test for unbalanced chromosome anomalies in postnatal cytogenetics mainly due to their unprecedented resolution facilitating the detection of submicroscopic copy number changes at a rate of 10–20% depending on indication for testing. A number of studies have addressed the performance of microarrays for chromosome analyses in high risk pregnancies due to abnormal ultrasound findings and reported an excess detection rate between 5% and 10%. In low risk pregnancies, clear pathogenic copy number changes at the submicroscopic level were encountered in 1% or less. Variants of unclear clinical significance, unsolicited findings, and copy number changes with variable phenotypic consequences are the main issues of concern in the prenatal setting posing difficult management questions. The benefit of microarray testing may be limited in pregnancies with only moderately increased risks (advanced maternal age, positive first trimester test). It is suggested to not change the current policy of microarray application in prenatal diagnosis until more data on the clinical significance of copy number changes are available.

  20. Prenatal diagnosis of trisomy 12 mosaicism: normal development of a 3 years old female child.

    PubMed

    Staals, J E A; Schrander-Stumpel, C T R M; Hamers, G; Fryns, J P

    2003-01-01

    Trisomy 12 mosaicism is a rare chromosomal mosaicism in prenatal diagnosis by amniocentesis. In the literature we found at least 27 cases. 13 Pregnancies were terminated, with multiple congenital anomalies (MCA) in 2 out of 13. Of the 12 liveborns with follow-up ranging from 0 to 5 years, 5 presented MCA and died within the first weeks. 2 Fetus died during pregnancy and further data are lacking. A normal outcome, with limited follow up however, was reported in 7/12 liveborns without congenital anomalies and is well demonstrated in the presently reported girl. We describe the 3-years follow up in a girl with trisomy 12 mosaicism, detected by amniocentesis for advanced maternal age. She is a healthy girl with normal physical and psychomotor development.

  1. Prenatal diagnosis of alpha-thalassemia by polymerase chain reaction and dual restriction enzyme analysis.

    PubMed

    Lebo, R V; Saiki, R K; Swanson, K; Montano, M A; Erlich, H A; Golbus, M S

    1990-08-01

    Asian couples at risk for a fetus with homozygous alpha-thalassemia (hydrops fetalis) are often identified by their low erythrocyte mean corpuscular volume (MCV) and normal hemoglobin electrophoresis when little time remains to test their genotypes by restriction enzyme analysis. DNA analysis is performed directly on chorionic villi or amniocytes remaining after an aliquot is used to establish a backup cell culture. The polymerase chain reaction (PCR) protocol quickly determines whether the fetus has hydrops fetalis without waiting for cultured cells to grow. Previously, growing cultured fetal cells to obtain more fetal material to establish unambiguously the fetal genotype with two independent restriction enzyme digests absorbed a significant portion of the time remaining to complete prenatal diagnosis. A dual restriction enzyme digestion protocol was development using a 3' zeta-globin probe to clearly distinguish the most common alpha-thalassemia deletions that represent nearly all the alpha-thalassemia haplotypes in Southeast Asia.

  2. Solar activity cycle and the incidence of foetal chromosome abnormalities detected at prenatal diagnosis

    NASA Astrophysics Data System (ADS)

    Halpern, Gabrielle J.; Stoupel, Eliahu G.; Barkai, Gad; Chaki, Rina; Legum, Cyril; Fejgin, Moshe D.; Shohat, Mordechai

    1995-06-01

    We studied 2001 foetuses during the period of minimal solar activity of solar cycle 21 and 2265 foetuses during the period of maximal solar activity of solar cycle 22, in all women aged 37 years and over who underwent free prenatal diagnosis in four hospitals in the greater Tel Aviv area. There were no significant differences in the total incidence of chromosomal abnormalities or of trisomy between the two periods (2.15% and 1.8% versus 2.34% and 2.12%, respectively). However, the trend of excessive incidence of chromosomal abnormalities in the period of maximal solar activity suggests that a prospective study in a large population would be required to rule out any possible effect of extreme solar activity.

  3. Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE): Proposed DSM-5 Diagnosis.

    PubMed

    Kable, Julie A; O'Connor, Mary J; Olson, Heather Carmichael; Paley, Blair; Mattson, Sarah N; Anderson, Sally M; Riley, Edward P

    2016-04-01

    Over the past 40 years, a significant body of animal and human research has documented the teratogenic effects of prenatal alcohol exposure (PAE). Neurobehavioral Disorder associated with PAE is proposed as a new clarifying term, intended to encompass the neurodevelopmental and mental health symptoms associated with PAE. Defining this disorder is a necessary step to adequately characterize these symptoms and allow clinical assessment not possible using existing physically-based diagnostic schemes. Without appropriate diagnostic guidelines, affected individuals are frequently misdiagnosed and treated inappropriately (often to their considerable detriment) by mental health, educational, and criminal justice systems. Three core areas of deficits identified from the available research, including neurocognitive, self-regulation, and adaptive functioning impairments, are discussed and information regarding associated features and disorders, prevalence, course, familial patterns, differential diagnosis, and treatment of the proposed disorder are also provided. PMID:26202432

  4. Circulating nucleic acids in plasma and serum: applications in diagnostic techniques for noninvasive prenatal diagnosis

    PubMed Central

    Gahan, Peter B

    2013-01-01

    The analysis of fetal nucleic acids in maternal blood 13 years ago has led to the initiation of noninvasive methods for the early determination of fetal gender, rhesus D status, and a number of aneuploid disorders and hemoglobinopathies. Subsequently, a comparatively large quantity of fetal DNA and RNA has been demonstrated in amniotic fluid as well as small amounts in premature infant saliva. The DNA and RNA in amniotic fluid has permitted an analysis of core transcriptomes, whilst the DNA and RNA in saliva allows the early detection and treatment monitoring of fetal developmental problems. These aspects are discussed together with the methodology and limits of analysis for noninvasive prenatal diagnosis in predictive, preventive, and personalized medicine. PMID:23637563

  5. A clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions.

    PubMed

    Clancy, Tara

    2010-03-01

    Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) for later onset and/or reduced penetrance inherited cancer predispositions, e.g. familial adenomatous polyposis, hereditary non-polyposis colorectal cancer/Lynch syndrome and hereditary breast and ovarian cancer, raise a number of ethical issues. Some of these are the same as for conditions which present early in childhood, are fully penetrant and for which no/limited treatment options are possible; others relate to whether reduced penetrance and/or the availability of treatment mean that these are not serious (enough) conditions to warrant tests prior to/during pregnancy or to justify termination of pregnancy. However, attempts to reach a consensus on what counts as a serious (enough) condition in the context of PND and PGD have been unsuccessful. Such a definition may anyway be unhelpful if it cannot also take into account, for example, the woman's/couple's awareness and experience of the condition and the impact of the condition on affected individuals and their families. Individuals affected by, or at high risk of, later onset and/or reduced penetrance inherited cancer predispositions are generally supportive of access to PND and PGD for their own conditions, even if they would not consider using it themselves. Professionals working in clinical cancer genetics need to be prepared to discuss PND and PGD with this group of patients. PMID:19644768

  6. A clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions.

    PubMed

    Clancy, Tara

    2010-03-01

    Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) for later onset and/or reduced penetrance inherited cancer predispositions, e.g. familial adenomatous polyposis, hereditary non-polyposis colorectal cancer/Lynch syndrome and hereditary breast and ovarian cancer, raise a number of ethical issues. Some of these are the same as for conditions which present early in childhood, are fully penetrant and for which no/limited treatment options are possible; others relate to whether reduced penetrance and/or the availability of treatment mean that these are not serious (enough) conditions to warrant tests prior to/during pregnancy or to justify termination of pregnancy. However, attempts to reach a consensus on what counts as a serious (enough) condition in the context of PND and PGD have been unsuccessful. Such a definition may anyway be unhelpful if it cannot also take into account, for example, the woman's/couple's awareness and experience of the condition and the impact of the condition on affected individuals and their families. Individuals affected by, or at high risk of, later onset and/or reduced penetrance inherited cancer predispositions are generally supportive of access to PND and PGD for their own conditions, even if they would not consider using it themselves. Professionals working in clinical cancer genetics need to be prepared to discuss PND and PGD with this group of patients.

  7. Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33

    SciTech Connect

    Eng, C.M.; Desnick, R.J.; Slaugenhaupt, S.A.; Gusella, J.F.

    1995-11-20

    Familial dysautonomia (FD) is an autosomal recessive sensory neuropathy that affects about 1 in 3,700 individuals of Ashkenazi Jewish ancestry. The underlying biochemical and genetic defects are unknown, thereby precluding prenatal diagnosis in at-risk families. Recently, the FD gene (DYS) was mapped with strong linkage disequilibrium to polymorphic markers in the chromosome 9 region q31-q33. In this report, the use of these markers for the prenatal diagnosis of FD by linkage analysis in families with a previously affected child was evaluated. Genomic DNA from appropriate family members was analyzed to construct haplotypes using informative CA repeat polymorphisms closely linked to and flanking the FD locus. The calculation of risk for the prenatal diagnoses was performed by linkage analysis. All seven FD families were informative for the closely linked polymorphic markers and fetal diagnoses were made in eight pregnancies. Six fetal diagnoses were predicted with >98% accuracy, while two with recombinations were predicted with at least 88% and 92% accuracy. Use of these closely linked markers permitted the reliable prenatal diagnosis of FD in families with a previously affected child. 14 refs., 3 figs.

  8. Sonographic evaluation of cervical length in pregnancy: diagnosis and management of preterm cervical effacement in patients at risk for premature delivery.

    PubMed

    Ayers, J W; DeGrood, R M; Compton, A A; Barclay, M; Ansbacher, R

    1988-06-01

    Sonographic measurement of cervical length during pregnancy can provide an objective, noninvasive assessment of anatomical shortening associated with premature labor and delivery. One hundred fifty normal women underwent serial sonographic cervical length measurements during uncomplicated pregnancy. The mean cervical length was 52 +/- 12 mm until 34 weeks' gestation, when gradual effacement and cervical length shortening began. Using these data, we managed 88 pregnant women with previous second-trimester pregnancy losses by a combination of cerclage placement for cervical length less than 40 mm and aggressive therapy for premature uterine contractions. The results showed the following: 1) 97% of women with diethylstilbestrol exposure and 80% of women with müllerian abnormalities exhibited cervical length shortening; 2) only 60% of women with a normal uterine cavity showed cervical lengths of less than 40 mm; and 3) all three groups of high-risk patients, independent of cervical length, showed significant premature uterine activity. These observations suggest that sonographic cervical length measurement may be a useful adjunct in the assessment of anatomical cervical integrity and the decision for cerclage placement. Furthermore, the presence of both premature cervical length shortening and preterm uterine activity in 65% of high-risk patients suggests that "cervical incompetence" and premature labor may not be distinct entities, but common symptoms associated with an increased risk of preterm delivery.

  9. BACs-on-Beads technology: a reliable test for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.

    PubMed

    García-Herrero, Sandra; Campos-Galindo, Inmaculada; Martínez-Conejero, José Antonio; Serra, Vicente; Olmo, Inés; Lara, Coral; Simón, Carlos; Rubio, Carmen

    2014-01-01

    The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

  10. BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

    PubMed Central

    Martínez-Conejero, José Antonio; Serra, Vicente; Olmo, Inés; Lara, Coral; Simón, Carlos

    2014-01-01

    The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples. PMID:24795887

  11. Counseling parents before prenatal diagnosis: do we need to say more about the sex chromosome aneuploidies?

    PubMed

    Lalatta, Faustina; Tint, G Stephen

    2013-11-01

    Sex chromosome trisomies (SCT), an extra X chromosome in females (triple X, XXX), males with an extra X chromosome (Klinefelter syndrome, XXY) or an extra Y chromosome (XYY) occur because of errors during meiosis and are relatively frequent in humans. Their identification has never been the goal of prenatal diagnosis (PD) but they almost never escape detection by any of the methods commonly in use. Despite recommendations and guide-lines which emphasize the importance of structured counseling before and after PD, most women remain unaware that testing for serious genetic abnormalities is more likely to uncover these trisomies. With the increasing use of PD more and more prospective parents receive a diagnosis of sex chromosome trisomies and are faced with the dilemma of whether to terminate the pregnancy or to carry it to term. Despite the dramatic and emotionally devastating consequences of having to make such a decision, they have little opportunity to consider in advance the possible outcomes of such a pregnancy and, rather than relying on their own feelings and judgements, are forced to depend on the advice of counseling professionals who may or may not themselves be fully aware of what having an extra sex chromosome can mean to the development of a child. We address here the principles of reproductive autonomy together with an analysis of the major issues that ought to be discussed with the parents before a PD is carried out in order to minimize detrimental effects caused by this unexpected finding.

  12. Residual risk for cytogenetic abnormalities after prenatal diagnosis by interphase fluorescence in situ hybridization (FISH).

    PubMed

    Homer, Jeanne; Bhatt, Sucheta; Huang, Bing; Thangavelu, Maya

    2003-07-01

    Results from conventional cytogenetic studies on 21 609 amniotic fluid specimens were analyzed retrospectively to determine the residual risk for a cytogenetic abnormality if interphase FISH, capable of only detecting aneuploidy for chromosomes 13, 18, 21, X and Y, was performed and did not reveal an abnormality. Detection rates (the probability of detecting a cytogenetic abnormality when an abnormality is present) and residual risks (the likelihood of a cytogenetic abnormality, in view of normal interphase FISH results) were calculated for the four major clinical indications for prenatal diagnosis (advanced maternal age, abnormal maternal serum screen indicating increased risk for trisomy 18 or trisomy 21, abnormal maternal serum screen indicating increased risk for neural tube defects and ultrasound abnormality). Differences in detection rates were observed to depend on clinical indication and presence or absence of ultrasound abnormalities. The detection rate ranged from 18.2 to 82.6% depending on the clinical indication. The detection rates of abnormalities significant to the pregnancy being evaluated (i.e. abnormalities excluding familial balanced rearrangements and familial markers) were between 28.6 and 86.4%. The presence of ultrasound abnormalities increased the detection rate from 72.2 to 92.5% for advanced maternal age and from 78.6 to 91.3% for abnormal maternal serum screen, indicating increased risk for trisomy 18 or trisomy 21. With regard to residual risk, the risk for a clinically significant abnormality decreased from 0.9-10.1%, prior to the interphase FISH assay, to a residual risk of 0.6-1.5% following a normal interphase FISH result in the 4 groups studied. Providing patients with detection rates and residual risks, most relevant to their situation (clinical indication and presence or absence of ultrasound abnormality) during counseling, could help them better understand the advantages and limitations of interphase FISH in their prenatal

  13. Prenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound.

    PubMed

    Liu, Rong; Chen, Xin-lin; Yang, Xiao-hong; Ma, Hui-jing

    2015-12-01

    This study sought to evaluate the contribution of two-dimensional ultrasound (2D-US) and three-dimensional skeletal imaging ultrasound (3D-SUIS) in the prenatal diagnosis of sirenomelia. Between September 2010 and April 2014, a prospective study was conducted in a single referral center using 3D-SUIS performed after 2D-US in 10 cases of sirenomelia. Diagnostic accuracy and detailed findings were compared with postnatal three-dimensional helical computed tomography (3D-HCT), radiological findings and autopsy. Pregnancy was terminated in all 10 sirenomelia cases, including 9 singletons and 1 conjoined twin pregnancy, for a total of 5 males and 5 females. These cases of sirenomelia were determined by autopsy and/or chromosomal examination. Initial 2D-US showed that there were 10 cases of oligohydramnios, bilateral renal agenesis, bladder agenesis, single umbilical artery, fusion of the lower limbs and spinal abnormalities; 8 cases of dipus or monopus; 2 cases of apus; and 8 cases of cardiac abnormalities. Subsequent 3D-SUIS showed that there were 9 cases of scoliosis, 10 cases of sacrococcygeal vertebra dysplasia, 3 cases of hemivertebra, 1 case of vertebral fusion, 3 cases of spina bifida, and 5 cases of rib abnormalities. 3D-SUIS identified significantly more skeletal abnormalities than did 2D-US, and its accuracy was 79.5% (70/88) compared with 3D-HCT and radiography. 3D-SUIS seems to be a useful complementary method to 2D-US and may improve the accuracy of identifying prenatal skeletal abnormalities related to sirenomelia. PMID:26670448

  14. Social impacts of technological diffusion: prenatal diagnosis and induced abortion in Brazil.

    PubMed

    Novaes, H M

    2000-01-01

    Scientific and technological development plays an essential part in shaping contemporary societies, and medicine and health care are considered to be particularly receptive to the incorporation of new concepts, techniques and products, producing impacts not only on the health problems for which they were originally intended, but also varied 'side-effects', less frequently recognised and studied. In this study the point of departure was the hypothesis that the intensive diffusion in Brazil of prenatal ultrasound would create new problems for individuals (pregnant women, their families and health professionals) and society in coping with foetal malformations, due to the existence of a very restrictive induced abortion legislation. The objective of the research was to study the social visibility of these problems, in the written mass media. The period under analysis went from 1991 to 1996. The four most important daily newspapers and two medical council journals were studied, with a criteria oriented selection of articles, and their macrotextual thematic analysis. The results indicate that the basic elements in the relationships between medical technology, prenatal diagnosis, foetal malformations and induced abortions stayed the same along the period - a restrictive Penal Code, the public recognition of the disseminated and usually tolerated practice of induced abortion, done in risky conditions for the majority of women, with very evident consequences on maternal health, a divided Congress, a divided 'public opinion', religious opposition and new scientific and technological practices in health care. Nevertheless, tension between these 'contradictory' factors increases, so much so, that new elements are introduced which make an accommodation possible, without implying in major changes of position. This is achieved through the development of new alliances between Science, the judiciary and obstetrical leaders, which benefit individual initiatives, instead of leading

  15. Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing.

    PubMed

    Ma, Dingyuan; Ge, Huijuan; Li, Xuchao; Jiang, Tao; Chen, Fang; Zhang, Yanyan; Hu, Ping; Chen, Shengpei; Zhang, Jingjing; Ji, Xiuqing; Xu, Xun; Jiang, Hui; Chen, Minfeng; Wang, Wei; Xu, Zhengfeng

    2014-07-10

    Prenatal diagnosis of congenital adrenal hyperplasia (CAH) is of clinical significance because in utero treatment is available to prevent virilization of an affected female fetus. However, traditional prenatal diagnosis of CAH relies on genetic testing of fetal genomic DNA obtained using amniocentesis or chorionic villus sampling, which is associated with an increased risk of miscarriage. The aim of this study was to demonstrate the feasibility of a new haplotype-based approach for the noninvasive prenatal testing of CAH due to 21-hydroxylase deficiency. Parental haplotypes were constructed using target-region sequencing data of the parents and the proband. With the assistance of the parental haplotypes, we recovered fetal haplotypes using a hidden Markov model (HMM) through maternal plasma DNA sequencing. In the genomic region around the CYP21A2 gene, the fetus inherited the paternal haplotype '0' alleles linked to the mutant CYP21A2 gene, but the maternal haplotype '1' alleles linked to the wild-type gene. The fetus was predicted to be an unaffected carrier of CAH, which was confirmed by genetic analysis of fetal genomic DNA from amniotic fluid cells. This method was further validated by comparing the inferred SNP genotypes with the direct sequencing data of fetal genomic DNA. The result showed an accuracy of 96.41% for the inferred maternal alleles and an accuracy of 97.81% for the inferred paternal alleles. The haplotype-based approach is feasible for noninvasive prenatal testing of CAH.

  16. Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy.

    PubMed

    Stajner, Tijana; Bobic, Branko; Klun, Ivana; Nikolic, Aleksandra; Srbljanovic, Jelena; Uzelac, Aleksandra; Rajnpreht, Irena; Djurkovic-Djakovic, Olgica

    2016-03-01

    To determine the risk of congenital toxoplasmosis (CT) and provide early (pre- or postnatal) identification of cases of CT in the absence of systematic screening in pregnancy.I n the presented cross-sectional study, serological criteria were used to date Toxoplasma gondii infection versus conception in 80 pregnant women with fetal abnormalities or referred to as suspected of acute infection, and in 16 women after delivery of symptomatic neonates. A combination of serological, molecular (qPCR), and biological (bioassay) methods was used for prenatal and/or postnatal diagnosis of CT. Most (77.5%) pregnant women were examined in advanced pregnancy. Of all the examined seropositive women (n = 90), infection could not be ruled out to have occurred during pregnancy in 93.3%, of which the majority (69%) was dated to the periconceptual period. CT was diagnosed in 25 cases, of which 17 prenatally and 8 postnatally. Molecular diagnosis proved superior, but the diagnosis of CT based on bioassay in 7 instances and by Western blot in 2 neonates shows that other methods remain indispensable. In the absence of systematic screening in pregnancy, maternal infection is often diagnosed late, or even only when fetal/neonatal infection is suspected. In such situations, use of a complex algorithm involving a combination of serological, biological, and molecular methods allows for prenatal and/or early postnatal diagnosis of CT, but lacks the preventive capacity provided by early maternal treatment.

  17. Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy

    PubMed Central

    Stajner, Tijana; Bobic, Branko; Klun, Ivana; Nikolic, Aleksandra; Srbljanovic, Jelena; Uzelac, Aleksandra; Rajnpreht, Irena; Djurkovic-Djakovic, Olgica

    2016-01-01

    Abstract To determine the risk of congenital toxoplasmosis (CT) and provide early (pre- or postnatal) identification of cases of CT in the absence of systematic screening in pregnancy. In the presented cross-sectional study, serological criteria were used to date Toxoplasma gondii infection versus conception in 80 pregnant women with fetal abnormalities or referred to as suspected of acute infection, and in 16 women after delivery of symptomatic neonates. A combination of serological, molecular (qPCR), and biological (bioassay) methods was used for prenatal and/or postnatal diagnosis of CT. Most (77.5%) pregnant women were examined in advanced pregnancy. Of all the examined seropositive women (n = 90), infection could not be ruled out to have occurred during pregnancy in 93.3%, of which the majority (69%) was dated to the periconceptual period. CT was diagnosed in 25 cases, of which 17 prenatally and 8 postnatally. Molecular diagnosis proved superior, but the diagnosis of CT based on bioassay in 7 instances and by Western blot in 2 neonates shows that other methods remain indispensable. In the absence of systematic screening in pregnancy, maternal infection is often diagnosed late, or even only when fetal/neonatal infection is suspected. In such situations, use of a complex algorithm involving a combination of serological, biological, and molecular methods allows for prenatal and/or early postnatal diagnosis of CT, but lacks the preventive capacity provided by early maternal treatment. PMID:26945416

  18. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma.

    PubMed

    Lun, Fiona M F; Tsui, Nancy B Y; Chan, K C Allen; Leung, Tak Y; Lau, Tze K; Charoenkwan, Pimlak; Chow, Katherine C K; Lo, Wyatt Y W; Wanapirak, Chanane; Sanguansermsri, Torpong; Cantor, Charles R; Chiu, Rossa W K; Lo, Y M Dennis

    2008-12-16

    Prenatal diagnosis of monogenic diseases, such as cystic fibrosis and beta-thalassemia, is currently offered as part of public health programs. However, current methods based on chorionic villus sampling and amniocentesis for obtaining fetal genetic material pose a risk to the fetus. Since the discovery of cell-free fetal DNA in maternal plasma, the noninvasive prenatal assessment of paternally inherited traits or mutations has been achieved. Due to the presence of background maternal DNA, which interferes with the analysis of fetal DNA in maternal plasma, noninvasive prenatal diagnosis of maternally inherited mutations has not been possible. Here we describe a digital relative mutation dosage (RMD) approach that determines if the dosages of the mutant and wild-type alleles of a disease-causing gene are balanced or unbalanced in maternal plasma. When applied to the testing of women heterozygous for the CD41/42 (-CTTT) and hemoglobin E mutations on HBB, digital RMD allows the fetal genotype to be deduced. The diagnostic performance of digital RMD is dependent on interplay between the fractional fetal DNA concentration and number of DNA molecules in maternal plasma. To achieve fetal genotype diagnosis at lower volumes of maternal plasma, fetal DNA enrichment is desired. We thus developed a digital nucleic acid size selection (NASS) strategy that effectively enriches the fetal DNA without additional plasma sampling or experimental time. We show that digital NASS can work in concert with digital RMD to increase the proportion of cases with classifiable fetal genotypes and to bring noninvasive prenatal diagnosis of monogenic diseases closer to reality.

  19. Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age.

    PubMed

    Melo, Bruna C S; Portocarrero, Ana; Alves, Cláudia; Sampaio, André; Mota-Vieira, Luisa

    2015-01-01

    The detection of supernumerary marker chromosomes (SMCs) in prenatal diagnosis is always a challenge. In this study, we report a paternally inherited case of a small SMC(15) that was identified in prenatal diagnosis due to advanced maternal age. A 39-year-old woman underwent amniocentesis at 16 weeks of gestation. A fetal abnormal karyotype - 47,XX,+mar - with one sSMC was detected in all metaphases. Since this sSMC was critical in the parental decision to continue or interrupt this pregnancy, we proceeded to study the fetus and their parents. Cytogenetic and molecular analyses revealed a fetal karyotype 47,XX,+mar pat.ish idic(15)(ql2)(D15Zl++,SNRPN-), in which the sSMC(15) was a paternally inherited inverted duplicated chromosome and did not contain the critical region of Prader-Willi/Angelman syndromes. Moreover, fetal uniparental disomy was excluded. Based on this information and normal obstetric ultrasounds, the parents decided to proceed with the pregnancy and a phenotypically normal girl was born at 39 weeks of gestation. In conclusion, the clinical effects of sSMCs need to be investigated, especially when sSMCs are encountered at prenatal diagnosis. Here, although the paternal sSMC(15) was not associated with an abnormal phenotype, its characterization allows more accurate genetic counseling for the family progeny. PMID:26523119

  20. Disability rights, prenatal diagnosis and eugenics: a cross-cultural view.

    PubMed

    Raz, Aviad E

    2005-06-01

    This paper considers the disability rights critique of genetic testing in the context of different communities and the issue of nondirectiveness. Despite the wide usage of genetic diagnosis in Israel, no public debate has emerged there concerning disability rights and prenatal testing. The common attitude that emerged from interviews with Israeli representatives of organizations "of'' and "for'' people with genetic diseases and congenital disabilities can be described as a two-fold view of disability: support of genetic testing during pregnancy, and support of the disabled person after birth. This two-fold view is explained as a secular construction situated in legal, economic and cultural contexts. The paper concludes by considering the implications of the "two-fold view'' of disability for the profession of genetic counseling. It is argued that awareness of the existence of conflicting views among clients--such as the view of the 'disability critique' as well as of the "two-fold view of disability''--should strengthen the significance of nondirectiveness. PMID:15959649

  1. Analysis of Fetal Blood: Is There Still a Role for Prenatal Diagnosis of Thalassemia?

    PubMed

    Yang, Yu; He, Ping; Li, Dong-Zhi

    2016-01-01

    The aim of the present study was to report the use of analysis of fetal blood in prenatal diagnosis (PND) of β- and α-thalassemia (β- and α-thal), at a Chinese tertiary, maternity center. All cases undergoing invasive testing for PND of thalassemias from 1 January 2010 to 31 December 2014 were included. The main clinical characteristics of these invasive procedures were retrieved from the database software used for analysis. One thousand, nine hundred and six invasive PNDs were carried out for thalassemia, including 904 cases for β-thal and 1002 for α-thal. In the 904 PNDs for β-thal, chorionic villus sampling (CVS) was done in 321 cases and amniocentesis in 583 cases. No fetal blood analysis was used for cases at-risk for β-thal. In the 1002 PNDs for α-thal, CVS was done in 724 cases, amniocentesis in 137 cases and fetal blood analysis in 141 cases. All the 278 cases sampled by amniocentesis or fetal blood analysis were found to be affected by Hb Bart's (γ4) disease. Currently, fetal blood analysis is considered only in relatively late gestation when Hb Bart's disease has already been identified by ultrasound in a fetus at-risk for α-thal.

  2. Disability rights, prenatal diagnosis and eugenics: a cross-cultural view.

    PubMed

    Raz, Aviad E

    2005-06-01

    This paper considers the disability rights critique of genetic testing in the context of different communities and the issue of nondirectiveness. Despite the wide usage of genetic diagnosis in Israel, no public debate has emerged there concerning disability rights and prenatal testing. The common attitude that emerged from interviews with Israeli representatives of organizations "of'' and "for'' people with genetic diseases and congenital disabilities can be described as a two-fold view of disability: support of genetic testing during pregnancy, and support of the disabled person after birth. This two-fold view is explained as a secular construction situated in legal, economic and cultural contexts. The paper concludes by considering the implications of the "two-fold view'' of disability for the profession of genetic counseling. It is argued that awareness of the existence of conflicting views among clients--such as the view of the 'disability critique' as well as of the "two-fold view of disability''--should strengthen the significance of nondirectiveness.

  3. Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent.

    PubMed

    Dondorp, Wybo; Sikkema-Raddatz, Birgit; de Die-Smulders, Christine; de Wert, Guido

    2012-06-01

    The introduction of genome-wide arrays in postnatal and prenatal diagnosis raises challenging ethical issues. Here, we explore questions with regard to the ethics of consent. One important issue is whether informed consent for genome-wide array-based testing is in fact feasible, given the wide range of possible outcomes and related options. The proposed alternative of "generic consent" will have to be studied in practice. From an ethical point of view, the question is whether consent would still be sufficiently "informed" in a generic approach. Another issue that has not yet been given much attention is how far parents, or pregnant women and their partners, should be allowed to determine the range of possible outcomes that will or will not be reported back to them. The scope and limits of parents' and prospective parents' right to know or not to know are far from clear. The complex normative issues on the content and weight of these rights can only be answered by taking full account of the rights and interests of all the parties involved: prospective and actual parents, children, and relatives. This paper is the result of a working group meeting preceding the European Society of Human Genetics 2011 Conference, where these issues were addressed.

  4. Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound.

    PubMed

    Rios, Livia T; Araujo Júnior, Edward; Caetano, Ana C R; Nardozza, Luciano M; Moron, Antonio F; Martins, Marília G

    2012-01-01

    THE EEC SYNDROME IS A GENETIC ANOMALY CHARACTERIZED BY THE TRIAD: ectodermal dysplasia (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations) and cleft lip and/or palate; these malformations can be seen together or in isolation. The prenatal diagnosis can be made by two-dimensional ultrasonography (2DUS) that identifies the facial and/or limb anomalies, most characteristic being the "lobster-claw" hands. The three-dimensional ultrasonography (3DUS) provides a better analysis of the malformations than the 2DUS. A 25-year-old primigravida, had her first transvaginal ultrasonography that showed an unique fetus with crow-rump length of 47 mm with poorly defined hands and feet,. She was suspected of having sporadic form of EEC syndrome. The 2DUS performed at 19 weeks confirmed the EEC syndrome, showing a fetus with lobster-claw hands (absence of the 2(nd) and 3(rd) fingers), left foot with the absence of the 3rd toe and the right foot with syndactyly, and presence of cleft lip/palate. The 3DUS defined the anomalies much better than 2DUS including the lobster-claw hands.

  5. Why do pregnant women accept or decline prenatal diagnosis for Down syndrome?

    PubMed

    Ternby, Ellen; Axelsson, Ove; Annerén, Göran; Lindgren, Peter; Ingvoldstad, Charlotta

    2016-07-01

    To investigate if actual knowledge of Down syndrome (DS), influences the decision to accept or decline prenatal diagnosis (PND). Secondary aims were to elucidate reasons for accepting or declining PND and investigate differences between the accepting and declining group in perceived information, knowing someone with DS and thoughts about decision-making. A questionnaire was completed by 76 pregnant women who underwent invasive testing and 65 women who declined tests for chromosomal aberrations in Uppsala, Sweden. Apart from one question no significant differences were found in knowledge of DS between women declining or accepting PND for DS. Both groups had varying and in several respects low levels of knowledge about DS and its consequences. Most common reasons to accept PND were 'to ease my worries' and 'to do all possible tests to make sure the baby is healthy'. Corresponding statements declining PND were 'termination of pregnancy is not an option' and 'because invasive tests increase the risk of miscarriage'. More women declining PND knew someone with DS. Knowledge of DS at these levels is not a major factor when women decide to accept or decline PND for DS. Their choice is mostly based on opinions and moral values.

  6. Prenatal diagnosis and selective abortion: a result of the cultural turn?

    PubMed

    Bromage, D I

    2006-06-01

    There is a growing trend in obstetric medicine of prenatal diagnosis and the selective abortion of foetuses that are likely to be born with a disability. Reasons commonly given to explain this trend include the financial implications of screening and testing policies, the disruption to families caused by the birth of a child with a disability, and the potential quality of life of the unborn child. This paper reflects upon another possible reason for this. It is argued that it is, in part, a consequence of our attitudes towards disability and a pursuit of aesthetic perfection. These attitudes arise from a social context that may be explained by considering the effect on the disabled community of the transition from modernity to postmodernity. This shift is demonstrated by inspecting some of the synonymous developments in art history. It is suggested that this "cultural turn" may have both helped and hindered people with disabilities, but the hypothesis requires further testing. This could best be achieved with a qualitative study of what motivates parental decision making in the obstetric unit.

  7. Alobar holoprosencephaly, proboscis and cyclopia in a chromosomally normal fetus: Prenatal diagnosis and fetal outcome.

    PubMed

    Genç, Mine; Genç, Berhan; Solak, Aynur; Alkiliç, Liya; Uyar, Murat

    2015-01-01

    Holoprosencephaly is a brain malformation that develops as a result of a defect in development of prosencephalon during early gestation. Holoprosencephaly can be diagnosed with prenatal ultrasonography and magnetic resonance imaging. We report herein a case with cyclopia and holoprosencephaly detected by prenatal ultrasonography. PMID:27086438

  8. Morton neuroma: sonographic evaluation.

    PubMed

    Redd, R A; Peters, V J; Emery, S F; Branch, H M; Rifkin, M D

    1989-05-01

    One hundred consecutive patients with symptoms suggestive of Morton neuroma were examined with sonography, and 134 intermetatarsal masses were demonstrated. Forty-five patients underwent surgical exploration, which revealed Morton neuromas. The typical sonographic appearance is that of an ovoid, hypoechoic mass oriented parallel to the long axis of the metatarsals. Most masses were between the second and third or third and fourth metatarsals and seemed to produce symptoms when reaching a diameter of 5 mm.

  9. Prenatal diagnosis of a rare form of congenital mid-ureteral stricture: a case report and literature revisited

    PubMed Central

    Brugnara, Milena; Cecchetto, Mariangela; Manfredi, Riccardo; Zuffante, Michele; Fanos, Vassilios; Pietrobelli, Angelo; Zaffanello, Marco

    2007-01-01

    Background Congenital mid-ureteral stricture is a rare malformation of the ureter leading to prenatal and neonatal hydronephrosis. Site characterization of the narrowing is important to optimize the surgical approach to the newborn affected by hydronephrosis. Case presentation We report a female EM with a rare form of hydronephrosis, (i.e. mid-ureteral stricture) which was detected early during pregnancy by imaging techniques. During fetal life both conventional fetal Ultrasound and maternal Magnetic Resonance Imaging (MRI) were used to diagnose the obstruction. Magnetic Resonance pyelography and retrograde Ureteropyelography were performed after delivery and before surgical correction and confirmed the finding. Furthermore, we revisited the literature using online MEDLINE and EMBASE databases. The literature reported only a few cases of prenatal diagnosis of early onset mid-ureteral stricture. Conclusion Mid-ureteral stricture is a rare cause of prenatal hydronephrosis. The diagnosis should not be delayed in order to apply the appropriate surgical approach. As a result, we showed the usefulness of fetal MRI and postnatal Magnetic Resonance pyelography, in the event that radionuclide renography with Tc-MAG3 was less informative, to allow the detection of the site of ureteral narrowing. Intrasurgical retrograde ureteropyelography confirmed these findings. PMID:17559650

  10. The use of chromosomal microarray for prenatal diagnosis.

    PubMed

    Dugoff, Lorraine; Norton, Mary E; Kuller, Jeffrey A

    2016-10-01

    Chromosomal microarray analysis is a high-resolution, whole-genome technique used to identify chromosomal abnormalities, including those detected by conventional cytogenetic techniques, as well as small submicroscopic deletions and duplications referred to as copy number variants. Because chromosomal microarray analysis has a greater resolution than conventional karyotyping, it can detect deletions and duplications down to a 50- to 100-kb level. The purpose of this document is to discuss the technique, advantages, and disadvantages of chromosomal microarray analysis and its indications and limitations. We recommend the following: (1) that chromosomal microarray analysis be offered when genetic analysis is performed in cases with fetal structural anomalies and/or stillbirth and replaces the need for fetal karyotype in these cases (GRADE 1A); (2) that providers discuss the benefits and limitations of chromosomal microarray analysis and conventional karyotype with patients who are considering amniocentesis and chorionic villus sampling (CVS), and that both options should be available to women who choose to undergo diagnostic testing (GRADE 1B); (3) that pre- and posttest counseling should be performed by trained genetic counselors, geneticists, or other providers with expertise in the complexities of interpreting chromosomal microarray analysis results (Best Practice); (4) that patients be informed that chromosomal microarray analysis does not detect every genetic disease or syndrome and specifically does not detect autosomal-recessive disorders associated with single gene point mutations, as well as that chromosomal microarray analysis can detect consanguinity and nonpaternity in some cases (Best Practice); (5) that patients in whom a fetal variant of uncertain significance is detected by prenatal diagnosis receive counseling from experts who have access to databases that provide updated information concerning genotype-phenotype correlations (Best Practice).

  11. Genetic Counseling for a Prenatal Diagnosis of Structural Chromosomal Abnormality with High-Resolution Analysis Using a Single Nucleotide Polymorphism Microarray

    PubMed Central

    Takashima, Akiko; Takeshita, Naoki; Kinoshita, Toshihiko

    2016-01-01

    A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46, XY, add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses. A single nucleotide polymorphism microarray revealed a male fetus with balanced chromosomal translocations on 9p and balanced chromosomal rearrangements, but another chromosomal abnormality was detected. The fetus had microduplication. The child was born as a phenotypically normal male. CMA is a simple and informative procedure for prenatal genetic diagnosis. CMA is the detection of chromosomal variants of unknown clinical significance; therefore, genetic counseling is important during prenatal genetic testing. PMID:27777709

  12. Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis

    PubMed Central

    Hill, Melissa; Twiss, Philip; Verhoef, Talitha I; Drury, Suzanne; McKay, Fiona; Mason, Sarah; Jenkins, Lucy; Morris, Stephen; Chitty, Lyn S

    2015-01-01

    Abstract Objectives We aim to develop non-invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF) and determine costs and implications for implementation. Methods A next-generation sequencing assay was developed to detect ten common CF mutations for exclusion of the paternal mutation in maternal plasma. Using uptake data from a study exploring views on NIPD for CF, total test-related costs were estimated for the current care pathway and compared with those incorporating NIPD. Results The assay reliably predicted mutation status in all control and maternal plasma samples. Of carrier or affected adults with CF (n = 142) surveyed, only 43.5% reported willingness to have invasive testing for CF with 94.4% saying they would have NIPD. Using these potential uptake data, the incremental costs of NIPD over invasive testing per 100 pregnancies at risk of CF are £9025 for paternal mutation exclusion, and £26 510 for direct diagnosis. Conclusions We have developed NIPD for risk stratification in around a third of CF families. There are economic implications due to potential increased test demand to inform postnatal management rather than to inform decisions around termination of an affected pregnancy. © 2015 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. PMID:25708280

  13. A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability.

    PubMed

    Rigola, Maria A; Baena, Neus; Català, Vicenç; Lozano, Iris; Gabau, Elisabet; Guitart, Miriam; Fuster, Carmen

    2015-01-01

    Most apparent balanced chromosomal inversions are usually clinically asymptomatic; however, infertility, miscarriages, and mental retardation have been reported in inversion carriers. We present a small family with a paracentric inversion 1q42.13q43 detected in routine prenatal diagnosis. Molecular cytogenetic methods defined the size of the inversion as 11.7 Mb and excluded other unbalanced chromosomal alterations in the patients. Our findings suggest that intellectual disability is caused by dysfunction, disruption, or position effects of genes located at or near the breakpoints involved in this inversion.

  14. The implications of sonographically identified cervical changes in patients not necessarily at risk for preterm birth.

    PubMed

    Riley, L; Frigoletto, F D; Benacerraf, B R

    1992-03-01

    Sonography of the cervix and lower uterine segment has been used in evaluating pregnancies at risk for incompetent cervix and premature labor. Shortened cervix (less than 3 cm) and open internal os with funneling of the membranes into the endocervical canal are sonographic features associated with premature delivery. We identified these sonographic signs in a group of 31 asymptomatic women who were undergoing prenatal sonography for multiple indications, not necessarily related to premature labor or cervical incompetence. Nineteen patients (61%) in this heterogeneous population had pregnancies complicated by preterm labor, clinical evidence of incompetent cervix, or preterm birth. We conclude that the presence of abnormal sonographic features of the cervix seen incidentally during prenatal sonography on asymptomatic patients warrants close clinical attention. PMID:1608077

  15. Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2.

    PubMed

    Guichet, Agnès; Triau, Stéphane; Lépinard, Catherine; Esculapavit, Chantal; Biquard, Florence; Descamps, Philippe; Encha-Razavi, Férechté; Bonneau, Dominique

    2004-10-01

    We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia.

  16. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.

    PubMed

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A; Greenlees, Ruth; Haeusler, Martin; Nelen, Vera; Garne, Ester; Khoshnood, Babak; Doray, Berenice; Rissmann, Anke; Mullaney, Carmel; Calzolari, Elisa; Bakker, Marian; Salvador, Joaquin; Addor, Marie-Claude; Draper, Elizabeth; Rankin, Judith; Tucker, David

    2012-05-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10,323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10,000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10,000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10,000 births, respectively. There were 1,737 RCA cases (17%), giving a prevalence of 7.4/10,000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10,000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

  17. Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis

    PubMed Central

    Westerfield, Lauren; Darilek, Sandra; van den Veyver, Ignatia B.

    2014-01-01

    Prenatal genetic screening and testing provides prospective parents information about the health of their fetus. It is offered to find or address an increased risk for chromosomal abnormalities or other genetic conditions in the fetus or to identify the cause of fetal structural abnormalities detected by prenatal imaging. Genome-wide tests, such as the already widely-used chromosomal microarray analysis and emerging diagnostic whole exome and whole genome sequencing, have improved the ability to detect clinically significant findings, but have also increased the chance of detecting incidental findings and variants of uncertain significance. There is an extensive ongoing discussion about optimal strategies for diagnostic laboratories to report such findings and for providers to communicate them with patients. While consensus opinions and guidelines are beginning to appear, they often exclude the prenatal setting, due to its unique set of challenging considerations. These include more limited knowledge of the impact of genetic variants when prospectively detected in an ongoing pregnancy, the absence or limitations of detecting clinically recognizable phenotypes at the time of testing and the different decision-making processes that will ensue from testing. In this review, we examine these challenges within the medical ethical framework unique to prenatal care. PMID:26237491

  18. Prenatal diagnosis and fetopathological findings in five fetuses with trisomy 9

    SciTech Connect

    Chitayat, D.; Hodgkinson, K.; Luke, A.

    1995-04-10

    Five male fetuses with trisomy 9 are discussed. Three were detected prenatally and terminated, 1 aborted spontaneously, and the fifth delivered prematurely and died soon after. Multiple congenital abnormalities characteristic of trisomy 9 were detected in all 5 cases and are compared to those of previous reports. 16 refs., 5 figs., 1 tab.

  19. Ethical Considerations Relating to Prenatal Diagnosis of Fetuses with Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.

    1991-01-01

    Prenatal diagnostic procedures that can determine the existence of genetic diseases or chromosome disorders such as Down's syndrome are described, and legal considerations are outlined. Arguments for and against aborting fetuses with Down's syndrome are presented, and the need for genetic counseling for prospective parents is emphasized.…

  20. Prenatal Tests

    MedlinePlus

    ... X Home > Pregnancy > Prenatal care > Prenatal tests Prenatal tests E-mail to a friend Please fill in ... if you’re feeling fine. What are prenatal tests? Prenatal tests are medical tests you get during ...

  1. Prenatal Care

    MedlinePlus

    ... Our ePublications > Prenatal care fact sheet ePublications Prenatal care fact sheet Print this fact sheet Health Care ... More information on prenatal care What is prenatal care? Prenatal care is the health care you get ...

  2. Prenatal diagnosis and selective abortion: a challenge to practice and policy.

    PubMed Central

    Asch, A

    1999-01-01

    Professionals should reexamine negative assumptions about the quality of life with prenatally detectable impairments and should reform clinical practice and public policy to improve informed decision making and genuine reproductive choice. Current data on children and families affected by disabilities indicate that disability does not preclude a satisfying life. Many problems attributed to the existence of a disability actually stem from inadequate social arrangements that public health professionals should work to change. This article assumes a pro-choice perspective but suggests that unreflective uses of prenatal testing could diminish, rather than expand, women's choices. This critique challenges the view of disability that lies behind the social endorsement of such testing and the conviction that women will or should end their pregnancies if they discover that the fetus has a disabling trait. PMID:10553384

  3. Prenatal diagnosis and selective abortion: a challenge to practice and policy.

    PubMed

    Asch, A

    1999-11-01

    Professionals should reexamine negative assumptions about the quality of life with prenatally detectable impairments and should reform clinical practice and public policy to improve informed decision making and genuine reproductive choice. Current data on children and families affected by disabilities indicate that disability does not preclude a satisfying life. Many problems attributed to the existence of a disability actually stem from inadequate social arrangements that public health professionals should work to change. This article assumes a pro-choice perspective but suggests that unreflective uses of prenatal testing could diminish, rather than expand, women's choices. This critique challenges the view of disability that lies behind the social endorsement of such testing and the conviction that women will or should end their pregnancies if they discover that the fetus has a disabling trait. PMID:10553384

  4. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

    PubMed

    Scott, Stuart A; Edelmann, Lisa; Liu, Liu; Luo, Minjie; Desnick, Robert J; Kornreich, Ruth

    2010-11-01

    The success of prenatal carrier screening as a disease prevention strategy in the Ashkenazi Jewish (AJ) population has driven the expansion of screening panels as disease-causing founder mutations have been identified. However, the carrier frequencies of many of these mutations have not been reported in large AJ cohorts. We determined the carrier frequencies of over 100 mutations for 16 recessive disorders in the New York metropolitan area AJ population. Among the 100% AJ-descended individuals, screening for 16 disorders resulted in ∼1 in 3.3 being a carrier for one disease and ∼1 in 24 for two diseases. The carrier frequencies ranged from 0.066 (1 in 15.2; Gaucher disease) to 0.006 (1 in 168; nemaline myopathy), which averaged ∼15% higher than those for all screenees. Importantly, over 95% of screenees chose to be screened for all possible AJ diseases, including disorders with lower carrier frequencies and/or detectability. Carrier screening also identified rare individuals homozygous for disease-causing mutations who had previously unrecognized clinical manifestations. Additionally, prenatal testing results and experience for all 16 disorders (n = 574) are reported. Together, these data indicate the general acceptance, carrier frequencies, and prenatal testing results for an expanded panel of 16 diseases in the AJ population. PMID:20672374

  5. Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.

    PubMed

    Lekarev, O; Tafuri, K; Lane, A H; Zhu, G; Nakamoto, J M; Buller-Burckle, A M; Wilson, T A; New, M I

    2013-01-01

    Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder where steroidogenesis in the adrenal cortex is impaired. The most common form is caused by 21-hydroxylase deficiency (21OHD). Classical 21OHD is characterized by glucocorticoid and mineralocorticoid deficiency and by overproduction of adrenal androgens. The diagnosis rests on biochemical and genetic analyses. In families with history of CAH, prenatal genetic diagnosis is offered. We herein present a case of an infant whose parents were identified to carry mutations on the CYP21A2 gene. The fetal DNA analysis demonstrated that the fetus carried a paternal exon 8 (Q318X) mutation and a maternal exon 8 (R356X) mutation. The fetus was presumed to be affected with CAH, yet his clinical presentation at birth was not consistent with the diagnosis. Repeated genetic analysis identified a paternal CYP21A2 gene duplication with Q318X mutation on one copy of CYP21A2. We conclude that a duplication of the CYP21A2 gene should be suspected when clinical and hormonal findings do not support the genetic diagnosis. Furthermore, because individuals with Q318X mutation frequently have a duplication of the CYP21A2 gene, when Q318X is detected, it is important to distinguish the severe point mutation in single gene copy alleles from the non-deficient variant in gene-duplicated alleles.

  6. Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics

    SciTech Connect

    Toth-Fejel, S.; Magenis, R.E.; Leff, S.

    1995-02-13

    With improvements in culturing and banding techniques, amniotic fluid studies now achieve a level of resolution at which the Prader-Willi syndrome (PWS) and Angelman syndrome (AS) region may be questioned. Chromosome 15 heteromorphisms, detected with Q- and R-banding and used in conjunction with PWS/AS region-specific probes, can confirm a chromosome deletion and establish origin to predict the clinical outcome. We report four de novo cases of an abnormal-appearing chromosome 15 in amniotic fluid samples referred for advanced maternal age or a history of a previous chromosomally abnormal child. The chromosomes were characterized using G-, Q-, and R-banding, as well as isotopic and fluorescent in situ hybridization of DNA probes specific for the proximal chromosome 15 long arm. In two cases, one chromosome 15 homolog showed a consistent deletion of the ONCOR PWS/AS region A and B. In the other two cases, one of which involved an inversion with one breakpoint in the PWS/AS region, all of the proximal chromosome 15 long arm DNA probes used in the in situ hybridization were present on both homologs. Clinical follow-up was not available on these samples, as in all cases the parents chose to terminate the pregnancies. These cases demonstrate the ability to prenatally diagnose chromosome 15 abnormalities associated with PWS/AS. In addition, they highlight the need for a better understanding of this region for accurate prenatal diagnosis. 41 refs., 5 figs.

  7. Decision-Making after Prenatal Diagnosis of a Syndrome Predisposing to Intellectual Disability: What Prospective Parents Need to Know and the Importance of Non-Medical Information

    ERIC Educational Resources Information Center

    Huyard, Caroline

    2012-01-01

    Background: Recently researchers have suggested that non-medical information may impact the decision to continue or terminate a pregnancy after a prenatal diagnosis. This study is an investigation of what type of information prospective parents need for this decision-making in the case of a condition predisposing to intellectual disability.…

  8. Lethal autonomy: the malfunction of the informed consent mechanism within the context of prenatal diagnosis of genetic variants.

    PubMed

    Dunne, C; Warren, C

    1998-01-01

    In this article, Cara Dunne and Catherine Warren challenge the current role of genetic counselors in advising expectant mothers about potential genetic defects of their fetuses. They show that genetic counselors sometimes provide one-sided negative information to women undergoing prenatal diagnosis of genetic variants. This biased information promotes abortion of what are considered "defective" fetuses. The misleading information provided by the genetic counselors and the termination of the pregnancies is akin to the eugenics movement. The authors describe the early 20th century eugenics movement, explore the origin and development of the Human Genome Project, analyze the current role of genetic counseling, and explain the importance of the informed consent process to the exercise of autonomy. Dunne and Warren conclude by offering methods by which to restructure the informed consent mechanism to offer a more balanced assessment of the risks and benefits associated with genetic disability.

  9. Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective.

    PubMed

    Lewis, Celine; Hill, Melissa; Skirton, Heather; Chitty, Lyn S

    2012-11-01

    Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants' views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decision-making. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods.

  10. Prenatal diagnosis and management of monozygotic twins discordant for turner syndrome.

    PubMed

    Gou, Chenyu; Gao, Yu; Chen, Baojiang; Fang, Qun

    2014-01-01

    Discordance for Turner syndrome in monozygotic (MZ) twins, which is known as heterokaryotypia, is very rare in MZ pregnancies. The combined effect of idiochromosome loss due to an anaphase lag and the relocation of discordant blastomeres may trigger the twinning procedure and discordance of Turner syndrome. We present 2 cases of MZ twins discordant for Turner syndrome that were diagnosed prenatally by ultrasound and cytogenetic studies (one fetus was 45,X and the other 46,XX). Both cases, which involved monochorionic (MC) diamniotic twins, underwent selective feticide and had favorable outcomes for the remaining twin. Ultrasound, amniocentesis of both sacs (dual amniocentesis) and zygosity determination are indispensable in diagnosing heterokaryotypia. Selective feticide is a treatment option in cases of heterokaryotypic MC diamniotic twins, and in our cases, it resulted in favorable outcomes for the remaining twin.

  11. Carrier detection and prenatal molecular diagnosis in a Duchenne muscular dystrophy family without any affected relative available.

    PubMed

    Alcántara, M A; García-Cavazos, R; Hernández-U, E; González-del Angel, A; Carnevale, A; Orozco, L

    2001-01-01

    In this paper we report a family where the affected DMD patients were not available for study and a molecular strategy was used for female carriers detection and for prenatal diagnosis. Linkage analysis was performed with two markers within the DMD gene, in all family members screened. DMD markers used (pERT87.8/Taq1 and pERT87.15/Xmn1) seemed not to be informative because the propositas mother (II-2) was homozygous for the minor allele at each marker (T2 and X2), however, the proposita and one sister carried only the major allele, which was inherited from the father. These results suggested that a deletion involving both markers could be present, and was inherited from the mother to both daughters. Quantitative multiplex PCR confirmed the deletion in female carriers, involving at least exons 12 to 17. DNA studies of cultured amniotic fluid cells at 14 weeks gestation, by amplification of specific Y-chromosome sequences, followed by multiplex PCR, lead to the diagnosis of a male fetus affected by DMD.

  12. Prenatal diagnosis of alobar holoprosencephaly, by use of ultrasound and magnetic resonance imaging in the second trimester.

    PubMed

    Huibers, Marieke; Papatsonis, Dimitri N M

    2009-12-01

    We describe a case concerning alobar holoprosencephaly and proboscis diagnosed at 20+3 weeks gestation during routine sonographic scanning. The internal neural and craniofacial malformations of the fetus were confirmed using magnetic resonance imaging (MRI). Amniocentesis demonstrated trisomy 13 of a male fetus. PMID:19916719

  13. A novel L1CAM mutation in a fetus detected by prenatal diagnosis.

    PubMed

    Piccione, Maria; Matina, Federico; Fichera, Marco; Lo Giudice, Mariangela; Damiani, Gianfranca; Jakil, Maria Cristina; Corsello, Giovanni

    2010-04-01

    X-linked hydrocephalus is due to mutations in the L1 neuronal cell adhesion molecule (L1CAM) gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. We report on a familial case diagnosed by prenatal ultrasonographic examination, with cerebellar hypoplasia, agenesis of the corpus callosum, and the bilateral overlapping of the second and third fingers of the hand. Sequencing of the L1CAM gene showed a novel missense mutation in exon 14: transition of a guanine to cytosine at position 1777 (c.1777G>C), which led to an amino acid change of alanine to proline at position 593 (Ala593Pro) in the sixth immunoglobulin domain of the L1 protein. The L1CAM mutation testing should be considered in fetuses with ultrasonographic signs of hydrocephalus and a positive family history compatible with X-linked inheritance. We agree with previous reports that suggest also considering limb abnormalities other than adducted thumbs in addition to classical neurological disgenesis, as characteristic for L1-disease.

  14. Proximal femoral focal deficiency of the fetus - early 3D/4D prenatal ultrasound diagnosis.

    PubMed

    Kudla, Marek J; Beczkowska-Kielek, Aleksandra; Kutta, Katarzyna; Partyka-Lasota, Justyna

    2016-09-01

    Proximal Femoral Focal Deficiency (PFFD) is a rare congenital syndrome of unknown etiology. Additional disorders can be present up to 70% of PFFD cases. Management (including termination) depends on the severity of the malformation. We present a case of a 32-year-old woman referred for routine ultrasound examination in the 12th week of pregnancy. Detailed 3D/4D evaluation revealed asymmetry of lower limbs and diagnosis of isolated PFFD was established. Parents were fully informed and decided to continue the pregnancy. We stress here the importance of early 3D/4D ultrasound diagnosis. Our paper presents the earliest case where the diagnosis of PFFD was established with 3D/4D ultrasound. PMID:27622419

  15. Sonographic appearance of primary retroperitoneal cysts.

    PubMed

    Derchi, L E; Rizzatto, G; Banderali, A; Sala, P; Larghero, G C; Solbiati, L

    1989-07-01

    The sonographic findings observed in four patients with primary retroperitoneal cysts were reviewed. All lesions presented as fluid-filled masses with anechoic content and regular margins; all increased through transmission. Preoperative location of the cysts within the retroperitoneal space was possible in all cases by either real-time ultrasound (US) analysis of the different relationships of the kidneys and the cysts during respiratory movements or the anterior displacement of surrounding structures. A differential diagnosis among retroperitoneal lesions containing fluid is difficult and cannot be obtained with imaging methods alone. However, preoperative knowledge of both the retroperitoneal location of the disease process and its fluid content may help to narrow the diagnostic possibilities, thus allowing the surgeon to more accurately plan the therapeutic approach to the patient.

  16. Induced pluripotent stem cells offer new approach to therapy in thalassemia and sickle cell anemia and option in prenatal diagnosis in genetic diseases

    PubMed Central

    Ye, Lin; Chang, Judy C.; Lin, Chin; Sun, Xiaofang; Yu, Jingwei; Kan, Yuet Wai

    2009-01-01

    The innovation of reprogramming somatic cells to induced pluripotent stem cells provides a possible new approach to treat β-thalassemia and other genetic diseases such as sickle cell anemia. Induced pluripotent stem (iPS) cells can be made from these patients' somatic cells and the mutation in the β-globin gene corrected by gene targeting, and the cells differentiated into hematopoietic cells to be returned to the patient. In this study, we reprogrammed the skin fibroblasts of a patient with homozygous β0 thalassemia into iPS cells, and showed that the iPS cells could be differentiated into hematopoietic cells that synthesized hemoglobin. Prenatal diagnosis and selective abortion have been effective in decreasing the number of β-thalassemia births in some countries that have instituted carrier screening and genetic counseling. To make use of the cells from the amniotic fluid or chorionic villus sampling that are used for prenatal diagnosis, we also showed that these cells could be reprogrammed into iPS cells. This raises the possibility of providing a new option following prenatal diagnosis of a fetus affected by a severe illness. Currently, the parents would choose either to terminate the pregnancy or continue it and take care of the sick child after birth. The cells for prenatal diagnosis can be converted into iPS cells for treatment in the perinatal periods. Early treatment has the advantage of requiring much fewer cells than adult treatment, and can also prevent organ damage in those diseases in which damage can begin in utero or at an early age. PMID:19482945

  17. Invasive Prenatal Testing

    PubMed Central

    Hunter, A.

    1988-01-01

    Invasive prenatal diagnosis is a major diagnostic tool which is used in modern obstetrical care. A synopsis of these techniques is provided to assist the family practitioner in providing this information to his patients. PMID:21253097

  18. No correlation between sonographic and electrophysiological parameters in carpal tunnel syndrome.

    PubMed

    Żyluk, A; Walaszek, I; Szlosser, Z

    2014-02-01

    A prospective study was carried out to investigate any correlation between electrophysiological and sonographic findings in patients with a clinical diagnosis of carpal tunnel syndrome. A total of 113 patients (113 wrists) in 90 women and 23 men, with a mean age of 60 years, underwent sonographic and electrophysiological examination. Fifty-five patients (48%) had mild, 43 (38%) moderate and 12 (11%) had severe conduction disturbances and three patients had normal conduction. Sonographic measurements showed a cross-sectional area of the median nerve of 9.9 mm(2) at the forearm and 17.8 mm(2) at the tunnel inlet. The mean anteroposterior diameter (height) of the nerve at the tunnel inlet was 2.7 mm, and the lowest height inside the tunnel was 1.8 mm. No correlation was found between sonographic and electrophysiological parameters.

  19. Prenatal diagnosis from maternal blood: simultaneous immunophenotyping and FISH of fetal nucleated erythrocytes isolated by negative magnetic cell sorting.

    PubMed Central

    Zheng, Y L; Carter, N P; Price, C M; Colman, S M; Milton, P J; Hackett, G A; Greaves, M F; Ferguson-Smith, M A

    1993-01-01

    Fetal nucleated cells in the maternal circulation constitute a potential source of cells for the non-invasive prenatal diagnosis of fetal genetic abnormalities. We have investigated the use of the Magnetic Activated Cell Sorter (MACS) for enriching fetal nucleated erythrocytes. Mouse monoclonal antibodies specific for CD45 and CD32 were used to deplete leucocytes from maternal blood using MACS sorting, thus enriching for fetal nucleated erythrocytes which do not express either of these antigens. However, significant maternal contamination was present even after MACS enrichment preventing the accurate analysis of fetal cells by interphase fluorescence in situ hybridisation (FISH). To overcome this problem, we used simultaneous immunophenotyping of cells with the mouse antifetal haemoglobin antibody, UCH gamma, combined with FISH analysis using chromosome X and Y specific DNA probes. This approach enables selective FISH analysis of fetal cells within an excess of maternal cells. Furthermore, we have confirmed the potential of the method for clinical practice by a pilot prospective study of fetal sex in women referred for amniocentesis between 13 and 17 weeks of gestation. Images PMID:8133505

  20. Prenatal diagnosis and management of fetal goiter caused by maternal Grave's disease.

    PubMed

    Hadi, H A; Strickland, D

    1995-07-01

    We present a case of maternal Grave's disease associated with fetal goitrous hyperthyroidism. Fetal goiter was diagnosed by ultrasound and diagnosis of fetal hyperthyroidism was established by umbilical blood sampling. Fetus was successfully treated by increasing maternal propylthiouracil dosage. Fetal thyroid status was normal at birth. Role of sonography and umbilical blood sampling in management of fetal goiter complicated with maternal Grave's disease is discussed. PMID:7575824

  1. Sonographic features of retroperitoneal neurilemoma.

    PubMed

    Kuo, C H; Changchien, C S

    1993-06-01

    Seven cases of retroperitoneal neurilemoma confirmed by histology had an ultrasound examination. There were 5 women and 2 men with a mean age of 55. Most of the cases (5/7) had a palpable mass clinically. Of the 7 cases, 4 had a mass with cystic degeneration and internal echoes on sonogram, consistent with the macroscopic findings of tumors. The internal echoes represented blood clots and residual tissue (or septa) in cyst. Of the remaining 3 cases, one showed a confluent lobulated mass, the second had a solitary homogeneous mass with small cysts, and the third one, which was the smallest (4 cm x 4 cm x 6 cm), had a hypoechoic and homogeneous pattern. The sonograms of all 7 cases were consistent with the macroscopic features of the tumors. The sonographic pattern of tumor parenchyma is either homogenously hyperechoic or hypoechoic. Because of the cystic degeneration, hemorrhage, and residual tissue of retroperitoneal neurilemoma, the sonographic pattern was variable.

  2. Trends in utilization of prenatal cytogenetic diagnosis by New York State residents in 1979 and 1980.

    PubMed Central

    Hook, E B; Schreinemachers, D M

    1983-01-01

    It is estimated that 35.3 per cent of pregnant New York State women age 35 or over underwent cytogenetic diagnosis in 1980 as compared to 28.7 per cent in 1979. Rates varied sharply by county. In several small counties far from genetic centers, no 1980 cytogenetic diagnostic studies were reported in women 35 or over while in New York City the rate was 41 per cent. In one county with an active genetic center the rate appears to have plateaued at 30 per cent. PMID:6849479

  3. Prenatal diagnosis of a partial trisomy 13q (q14-->qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization.

    PubMed

    Machado, I N; Heinrich, J K; Campanhol, C; Rodrigues-Peres, R M; Oliveira, F M; Barini, R

    2010-03-16

    Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. We report prenatal diagnosis of partial trisomy 13q in a fetus with partial agenesis of the cerebellar vermis, partial agenesis of the corpus callosum, hydrops and polyhydramnios. G-banding karyotyping, spectral karyotyping and array comparative genomic hybridization (aCGH) analysis of fetal blood were performed. Cytogenetic analysis of fetal blood displayed 46,XX,add(4)(q28). The parental karyotypes were normal. A girl was delivered at 34 weeks gestation; she died within 2 h. Autopsy confirmed all the prenatal findings and also showed agenesis of the diaphragm. Spectral karyotyping identified the additional material's origin as chromosome 13. aCGH was carried out and showed amplification of distal regions of the long arm of chromosome 13 from region 13q14 to qter. This is the first report of a fetus with molecular characterization of a partial trisomy 13q (q14-->qter), present as a de novo unbalanced translocation at chromosome 4q. This case demonstrates the usefulness of molecular characterization of malformed fetuses for prenatal diagnosis and counseling.

  4. Prenatal diagnosis of a partial trisomy 13q (q14-->qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization.

    PubMed

    Machado, I N; Heinrich, J K; Campanhol, C; Rodrigues-Peres, R M; Oliveira, F M; Barini, R

    2010-01-01

    Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. We report prenatal diagnosis of partial trisomy 13q in a fetus with partial agenesis of the cerebellar vermis, partial agenesis of the corpus callosum, hydrops and polyhydramnios. G-banding karyotyping, spectral karyotyping and array comparative genomic hybridization (aCGH) analysis of fetal blood were performed. Cytogenetic analysis of fetal blood displayed 46,XX,add(4)(q28). The parental karyotypes were normal. A girl was delivered at 34 weeks gestation; she died within 2 h. Autopsy confirmed all the prenatal findings and also showed agenesis of the diaphragm. Spectral karyotyping identified the additional material's origin as chromosome 13. aCGH was carried out and showed amplification of distal regions of the long arm of chromosome 13 from region 13q14 to qter. This is the first report of a fetus with molecular characterization of a partial trisomy 13q (q14-->qter), present as a de novo unbalanced translocation at chromosome 4q. This case demonstrates the usefulness of molecular characterization of malformed fetuses for prenatal diagnosis and counseling. PMID:20391329

  5. Cultured amniotic fluid cells for prenatal diagnosis of lysosomal storage disorders: a methodological study.

    PubMed

    Arnon, J; Ornoy, A; Bach, G

    1986-01-01

    The influence of culture conditions on the ultrastructure and enzyme activities of amniotic fluid cells are reported. Morphological changes were determined as a function of the number of lysosomal-like inclusion bodies per cell, and these results correlated to the activity of beta-hexosaminidase, alpha-mannosidase, beta-glucuronidase, arylsulphatase C and 5' nucleotidase. The parameters examined were pH of the culture media, type of media, increasing cell passage and day of harvest. Our results indicate that enzyme activities are less sensitive to changes in culture conditions as compared to ultrastructural changes. We therefore recommend that in order to obtain reliable ultrastructural results for the diagnosis of storage disorders, cultures should be grown in MEM as the culture medium, the pH of the medium carefully monitored to remain below pH 7.4, examining the cultures no later than the eighth cell passage and no later than the 10th day after subculture.

  6. Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.

    PubMed

    Serikawa, Takehiro; Nishiyama, Kenichi; Tohyama, Jun; Tazawa, Ryushi; Goto, Kiyoe; Kuriyama, Yoko; Haino, Kazufumi; Kanemura, Yonehiro; Yamasaki, Mami; Nakata, Koh; Takakuwa, Koichi; Enomoto, Takayuki

    2014-11-01

    We present a case of a patient whose L1CAM gene in X-chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X-linked hydrocephalus (XLH) was suspected. The DNA examination revealed that both her and boy's LICAM gene had a C924T transition. She became pregnant 5 years later and amniocentesis was performed. The results of cytogenetic analysis revealed that the fetus was female. She continued her pregnancy and delivered a healthy girl. She again became pregnant 3 years later. The chromosomal analysis revealed that the fetus was male. Fetal DNA analysis determined that the fetus had the inherited mutation. She chose to terminate the pregnancy. A C924T mutation can be disease causing for XLH, and the detection of this mutation would aid in genetic counseling for the prenatal diagnosis of XLH.

  7. Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.

    PubMed

    Serikawa, Takehiro; Nishiyama, Kenichi; Tohyama, Jun; Tazawa, Ryushi; Goto, Kiyoe; Kuriyama, Yoko; Haino, Kazufumi; Kanemura, Yonehiro; Yamasaki, Mami; Nakata, Koh; Takakuwa, Koichi; Enomoto, Takayuki

    2014-11-01

    We present a case of a patient whose L1CAM gene in X-chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X-linked hydrocephalus (XLH) was suspected. The DNA examination revealed that both her and boy's LICAM gene had a C924T transition. She became pregnant 5 years later and amniocentesis was performed. The results of cytogenetic analysis revealed that the fetus was female. She continued her pregnancy and delivered a healthy girl. She again became pregnant 3 years later. The chromosomal analysis revealed that the fetus was male. Fetal DNA analysis determined that the fetus had the inherited mutation. She chose to terminate the pregnancy. A C924T mutation can be disease causing for XLH, and the detection of this mutation would aid in genetic counseling for the prenatal diagnosis of XLH. PMID:25039760

  8. Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation.

    PubMed

    Bai, Q L; Liu, N; Kong, X D; Xu, X J; Zhao, Z H

    2015-01-01

    We investigated the feasibility of interleukin-2 receptor gamma (IL2Rγ) gene based on gene mutation analysis and pre-natal diagnosis of X-linked severe combined immunodeficiency (X-SCID). Blood samples of patients and their parents of X-SCID (family 1) and X-SCID (family 2) were collected. IL2Rγ gene sequences of the 2 families were analyzed using bi-directional direct sequencing by polymerase chain reaction. DNA sequence changes in the IL2Rγ gene exon region and shear zone were also analyzed. We also sequenced the IL2Rγ gene in 100 healthy individuals. Prenatal genetic diagnoses for a high-risk fetus in family 1 were performed by chorionic villus sampling after determining each family's genotypes. The suspect fe-male in family 1 underwent carrier detection. Two novel mutations of IL2Rγ gene were identified, including c.361-363delGAG (p.E121del) in the patient and his mother in family 1, and c.510-511insGAACT (p.W173X) heterozygous mutation in the proband's mother in family 2. These mutations were absent in the 100 controls. Prenatal diagnosis of early pregnancy in the female fetus of family 1 was performed; the fetus was heterozygous, which was confirmed at postnatal follow-up. The suspect female in family 1 showed no mutation in carrier detection. The novel p.E121del and p.W173X mutations in IL2Rγ may have been the primary causes of disease in 2 families with X-SCID. In couples with an X-SCID reproductive history, prenatal gene mutation analysis of IL2Rγ can effectively prevent the birth of children with X-SCID and carrier detection for suspected females. PMID:26125817

  9. Prenatal diagnosis of haemophilia in Sweden now more commonly used for psychological preparation than termination of pregnancy.

    PubMed

    Mårtensson, A; Tedgård, U; Ljung, R

    2014-11-01

    The aims of the study were to define the frequency, outcome and reasons for prenatal diagnosis (PND) in Sweden during a 30-year period in order to study trends and changes. The study population, from the Swedish nationwide registry of PND of haemophilia, consisted of 54 women, compromising >95% of all, who underwent PND (n = 90) of haemophilia during 1977-2013. PND was performed by amniocentesis (n = 10), chorionic villus sampling (n = 64) or by analysis of foetal blood (n = 16). A total of 27/90 foetuses were found to have haemophilia. Sixteen went to termination and the remaining 11 were born during the end of the study period (2000-2013). Three of 90 pregnancies were terminated due to findings other than haemophilia and 3/90 PNDs led to miscarriage. In the 30 families with known haemophilia, PNDs (n = 55) were used in 27/55 cases for 'psychological preparation' and in 23/55 cases with the aim to terminate the pregnancy. A subgroup of women (n = 17) who consecutively underwent PND in the years 1997-2010 were further interviewed. For 11/17, being a carrier had a negative effect on the decision to become pregnant, and in 11 cases PND had influenced their decision to conceive. Our study show that PND of haemophilia is stable over time but increasingly used during the last decade as a psychological preparation for having a child with haemophilia as compared to earlier where more terminations of pregnancies were conducted.

  10. Hereditary tyrosinemia type 1: Strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis

    SciTech Connect

    Demers, S.I.; Phaneuf, D.; Tanguay, R.M. )

    1994-08-01

    Hereditary tyrosinemia type 1 (HT1), a severe inborn error of tyrosine catabolism, is caused by deficiency of the terminal enzyme, fumarylacetoacetate hydrolase (FAH). The highest reported frequency of HT1 is in the French Canadian population, especially in the Saguenay-Lac-St-Jean region. Using human FAH cDNA probes, the authors have identified 10 haplotypes with TaqI, KpnI, RsaI, BglII, and MspI RFLPs in 118 normal chromosomes from the French Canadian population. Interestingly, in 29 HT1 children, a prevalent haplotype, haplotype 6, was found to be strongly associated with the disease, at a frequency of 90% of alleles, as compared with [approximately] 18% in 35 control individuals. This increased to 96% in the 24 patients originating from Saguenay-Lac-St-Jean. These results suggest that one or only a few prevailing mutations are responsible for most of the HT1 cases in Saguenay-Lac-St-Jean. Since most patients were found to be homozygous for a specific haplotype in this population, FAH RFLPs have permitted simple carrier detection in nine different informative HT1 families, with a confidence level of 99.9%. Heterozygosity rate values obtained from 52 carriers indicated that [approximately] 88% of families at risk from Saguenay-Lac-St-Jean are fully or partially informative. Prenatal diagnosis was also achieved in an American family. Analysis of 24 HT1 patients from nine countries gave a frequency of [approximately] 52% for haplotype 6, suggesting a relatively high association, worldwide, of HT1 with this haplotype. 31 refs., 1 fig., 3 tabs.

  11. Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

    PubMed Central

    Demers, S. I.; Phaneuf, D.; Tanguay, R. M.

    1994-01-01

    Hereditary tyrosinemia type 1 (HT1), a severe inborn error of tyrosine catabolism, is caused by deficiency of the terminal enzyme, fumarylacetoacetate hydrolase (FAH). The highest reported frequency of HT1 is in the French Canadian population, especially in the Saguenay-Lac-St-Jean region. Using human FAH cDNA probes, we have identified 10 haplotypes with TaqI, KpnI, RsaI, BglII, and MspI RFLPs in 118 normal chromosomes from the French Canadian population. Interestingly, in 29 HT1 children, a prevalent haplotype, haplotype 6, was found to be strongly associated with the disease, at a frequency of 90% of alleles, as compared with approximately 18% in 35 control individuals. This increased to 96% in the 24 patients originating from Saguenay-Lac-St-Jean. These results suggest that one or only a few prevailing mutations are responsible for most of the HT1 cases in Saguenay-Lac-St-Jean. Since most patients were found to be homozygous for a specific haplotype in this population, FAH RFLPs have permitted simple carrier detection in nine different informative HT1 families, with a confidence level of 99.9%. Heterozygosity rate values obtained from 52 carriers indicated that approximately 88% of families at risk from Saguenay-Lac-St-Jean are fully or partially informative. Prenatal diagnosis was also achieved in an American family. Analysis of 24 HT1 patients from nine countries gave a frequency of approximately 52% for haplotype 6, suggesting a relatively high association, worldwide, of HT1 with this haplotype. Images Figure 1 PMID:7913582

  12. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).

    PubMed Central

    Christiano, A. M.; LaForgia, S.; Paller, A. S.; McGuire, J.; Shimizu, H.; Uitto, J.

    1996-01-01

    BACKGROUND: Epidermolysis bullosa (EB) is a group of heritable diseases that manifest as blistering and erosions of the skin and mucous membranes. In the dystrophic forms of EB (DEB), the diagnostic hallmark is abnormalities in the anchoring fibrils, attachment structures beneath the cutaneous basement membrane zone. The major component of anchoring fibrils is type VII collagen, and DEB has been linked to the type VII collagen gene (COL7A1) at 3p21, with no evidence for locus heterogeneity. Due to life-threatening complications and significant long-term morbidity associated with the severe, mutilating form of recessive dystrophic EB (RDEB), there has been a demand for prenatal diagnosis from families with affected offspring. MATERIALS AND METHODS: Intragenic polymorphisms in COL7A1 and flanking microsatellite markers on chromosome 3p21, as well as detection of pathogenetic mutations in families, were used to perform PCR-based prenatal diagnosis from DNA obtained by chorionic villus sampling at 10-15 weeks or amniocentesis at 12-15 weeks gestation in 10 families at risk for recurrence of RDEB. RESULTS: In nine cases, the fetus was predicted to be normal or a clinically unaffected carrier of a mutation in one allele. These predictions have been validated in nine cases by the birth of a healthy child. In one case, an affected fetus was predicted, and the diagnosis was confirmed by fetal skin biopsy. CONCLUSIONS: DNA-based prenatal diagnosis of RDEB offers an early, expedient method of testing which will largely replace the previously available invasive fetal skin biopsy at 18-20 weeks gestation. Images FIG. 1 FIG. 3 PMID:8900535

  13. Impact of prenatal glucose screening on the diagnosis of gestational diabetes and on pregnancy outcomes.

    PubMed

    Wen, S W; Liu, S; Kramer, M S; Joseph, K S; Levitt, C; Marcoux, S; Liston, R M

    2000-12-01

    The authors examined the impact of universal screening on the diagnosis of gestational diabetes and its complications. All mothers and newborns registered by the Canadian Institute for Health Information from 1984 to 1996 (even-numbered fiscal years only) were included in the analysis. Over this time period, the proportion of women with gestational diabetes increased ninefold (from 0.3% to 2.7%) while the proportion with prepregnancy diabetes fell from 0.7% to 0.4%. As rates of gestational diabetes increased, a corresponding reduction in the risks of complications (polyhydramnios, amniotic cavity infection, cesarean delivery, and preeclampsia) occurred for women with gestational diabetes. The incidence of gestational diabetes fell in Metro-Hamilton (where screening was discontinued in 1989) but remained high in the rest of Ontario (where screening continued in most areas). No related temporal trends for fetal macrosomia, cesarean delivery, or other diabetes-related complications were observed, regardless of screening policy. The authors concluded that the substantial increase in gestational diabetes in Canada is an artifact caused by universal screening, with no evidence of beneficial effects on pregnancy outcomes. PMID:11117609

  14. Prenatal diagnosis and postpartal therapy of fetal obstructions related to the urinary tract.

    PubMed

    Meyer-Schwickerath, M; Bedow, W; Rascher, W

    1990-01-01

    114 fetal malformations were diagnosed by ultrasound in the years 1983-1987 at our institute. 32 of these malformations involved the urinary tract. Fetuses with multicystic dysplasic kidneys and oligohydramnios have only a poor prognosis. In obstructive uropathy, however, exact antenatal diagnosis makes early leads to specific postpartal urological therapy. Modern ultrasound equipment makes it possible to localize the site of obstruction and/or dilatation in fetuses. The amount of amnion fluid indicates the degree of obstruction and is an important factor the postpartal prognosis of the children. Relieve of obstruction should be the first step of urological therapy directly after birth. We prefer to perform reconstructive surgery as soon as possible in the first 2 to 3 weeks of life. In children with subpelvic stenosis pyeloplasty is performed in the first weeks of life. Our results of 13 pyeloplasties in newborn are favourable. In children with megaureters dynamic scintigraphy or pressure flow studies (Whitaker test) are performed to diagnose or to exclude obstruction as a cause of dilatation (n = 14). In case of obstruction we perform an ureterocutaneostomy (Ring- or Sober procedure) immediately. Urethral valves causing subvesical obstruction could be treated by transvesical antegrade valve ablation, performed in 9 newborn with good success.

  15. Agnathia-otocephaly: prenatal diagnosis by two- and three-dimensional ultrasound and magnetic resonance imaging. Case report.

    PubMed

    Hisaba, Wagner Jou; Milani, Hérbene José Figuinha; Araujo Júnior, Edward; Passos, Jurandir Piassi; Barreto, Enoch Quinderé Sá; Carvalho, Natália Silva; Helfer, Talita Micheletti; Pares, David Batista Silva; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes

    2014-12-01

    A case of prenatally diagnosed otocephaly is reported. Otocephaly is an extremely rare malformation characterized by absence or hypoplasia of the mandible and abnormal horizontal position of the ears. 2D ultrasound performed at 25 weeks of gestation revealed agnathia, proboscis and hypotelorism. 3D ultrasound (rendering mode) and magnetic resonance imaging were used to evaluate the facial features, and were essential for characterization of facial malformations in otocephaly and for the demonstration and correct prenatal counseling of the couple. PMID:25463893

  16. Sonographically documented disappearance of fetal ascites.

    PubMed

    Mueller-Heubach, E; Mazer, J

    1983-02-01

    Two patients with sonographically documented fetal ascites are described. Workup for immunologic or nonimmunologic causes was negative. Subsequent sonar examinations demonstrated disappearance of fetal ascites. At delivery, previous abdominal distention was apparent. Fetal ascites of unknown etiology in the late second trimester does not necessarily have a poor prognosis. Serial sonographic examinations are indicated for follow-up of fetal ascites.

  17. Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus.

    PubMed

    Bick, D P; McCorkle, D; Stanley, W S; Stern, H J; Staszak, P; Berkovitz, G D; Meyers, C M; Kelley, R I

    1999-01-01

    A cytogenetically normal male fetus was subsequently found to have female external genitalia, a cardiac malformation and mid-trimester intra-uterine growth retardation by ultrasound examination. The maternal serum oestriol level was low. The combination of low oestriol and sonographic findings suggested Smith Lemli Opitz syndrome (SLO), which was confirmed by a markedly increased amniotic fluid level of 7-dehydrocholesterol. We review the differential diagnosis of apparent sex reversal in a fetus and low maternal serum oestriol level. To further examine the specificity of low maternal oestriol level as a marker for SLO a follow-up study of 12141 pregnancies screened for Down syndrome using three biochemical markers: alpha-fetoprotein, beta-human chorionic gonadotrophin and oestriol was performed. 26 pregnancies had an oestriol level that was 0.25 MoM or less. SLO was not diagnosed clinically in any of the liveborn children ascertained through a low maternal oestriol level. Nine of the pregnancies ended in spontaneous miscarriage. Although the frequency of SLO in pregnancies with low maternal oestriol levels or sex-reversed fetuses is unknown, the diagnosis of SLO should, nevertheless, be considered in both clinical settings. PMID:10073912

  18. Antenatal diagnosis of extralobar pulmonar sequestration

    PubMed Central

    Houda, El Mhabrech; Ahmed, Zrig; Amine, Ksia; Amina, Ben Salem; Raja, Faleh; Chiraz, Hafsa

    2014-01-01

    Extralobar pulmonary sequestrations (ELS) are masses of non-functioning lung tissue that are supplied by an anomalous systemic artery and do not have a bronchial connection to the native tracheobronchial tree. On prenatal ultrasonography, an ELS appears as a well-defined echodense, homogeneous mass. Detection by color flow Doppler ultrasonography of a systemic artery from the aorta to the fetal lung lesion is a pathognomonic feature of fetal ELS. MR imaging may help in the diagnosis of pulmonary sequestration by demonstrating a solid, well-defined mass, and the feeding artery. In this case report, we describe the sonographic and MR diagnosis of an ELS in a fetus at 22 weeks gestation with a review of the available literature. PMID:25667716

  19. Antenatal diagnosis of extralobar pulmonar sequestration.

    PubMed

    Houda, El Mhabrech; Ahmed, Zrig; Amine, Ksia; Amina, Ben Salem; Raja, Faleh; Chiraz, Hafsa

    2014-01-01

    Extralobar pulmonary sequestrations (ELS) are masses of non-functioning lung tissue that are supplied by an anomalous systemic artery and do not have a bronchial connection to the native tracheobronchial tree. On prenatal ultrasonography, an ELS appears as a well-defined echodense, homogeneous mass. Detection by color flow Doppler ultrasonography of a systemic artery from the aorta to the fetal lung lesion is a pathognomonic feature of fetal ELS. MR imaging may help in the diagnosis of pulmonary sequestration by demonstrating a solid, well-defined mass, and the feeding artery. In this case report, we describe the sonographic and MR diagnosis of an ELS in a fetus at 22 weeks gestation with a review of the available literature. PMID:25667716

  20. Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects.

    PubMed

    Wilson, R Douglas; Wilson, R Douglas; Audibert, Francois; Brock, Jo-Ann; Campagnolo, Carla; Carroll, June; Cartier, Lola; Chitayat, David; Gagnon, Alain; Johnson, Jo-Ann; Langlois, Sylvie; MacDonald, W Kim; Murphy-Kaulbeck, Lynn; Okun, Nanette; Pastuck, Melanie; Popa, Vanessa

    2014-10-01

    Objectif : Fournir, aux professionnels de la santé des domaines de l’obstétrique et de la génétique, des lignes directrices et des recommandations en ce qui a trait au dépistage / diagnostic prénatal et à la prise en charge obstétricale du dysraphisme spinal ouvert / fermé (DSOF) chez le fœtus. Options : La présente analyse englobe les techniques de dépistage / diagnostic prénatal qui sont actuellement utilisées aux fins de la détection du DSOF, y compris le dépistage des concentrations sériques en alphafoetoprotéines chez la mère, l’échographie, l’imagerie par résonance magnétique visant le fœtus et l’amniocentèse. Issues : Améliorer le dépistage / diagnostic prénatal et la prise en charge obstétricale du DSOF, tout en prenant en considération les soins offerts à la patiente, l’efficacité, les coûts et les interventions de soins. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans PubMed ou MEDLINE, CINAHL et The Cochrane Library en novembre 2013 au moyen d’un vocabulaire contrôlé et de mots clés appropriés (p. ex. « prenatal screening », « congenital anomalies », « neural tube defects », « alpha-fetoprotein », « ultrasound scan », « magnetic resonance imaging »). Les résultats ont été restreints aux analyses systématiques, aux essais comparatifs randomisés / essais cliniques comparatifs et aux études observationnelles publiés en anglais entre 1977 et 2012. Les recherches ont été mises à jour de façon régulière et ont été intégrées à la directive clinique jusqu’au 30 novembre 2013. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d

  1. Prenatal diagnosis of sub-microscopic partial trisomy 10q using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype.

    PubMed

    Browne, P C; Adam, S; Badr, M; Brooks, C R; Edwards, J; Walker, P; Mohamed, S; Gregg, A R

    2016-05-17

    Partial trisomy of the 10q region was originally reported in 1979 [1]. For 25 years, the diagnosis was made microscopically based on large, visible insertions in the region identified by karyotype analysis. Previous case reports have included both unbalanced translocations and large duplications/insertions in the 10q region [2]. Probands with partial trisomy 10q syndrome often have an abnormal phenotype that may include developmental delay [3-5], craniofacial abnormalities [3, 5], talipes (clubfoot) [2], microcephaly [2-4], or congenital heart disease [2-6]. Prenatal diagnoses by karyotype have been made following ultrasound diagnosis of sacrococcygeal teratoma [7], renal pyelectasis [3, 8-10], and other fetal abnormalities [4]. In this case, we report the first prenatal diagnosis of partial trisomy 10q (10q22.3-10q23.2) with a normal karyotype and an abnormal chromosomal microarray analysis (CMA). This is the smallest copy number variant (CNV) (7.5 Mb) in the 10q22.3-10q23.2 regions yet reported. PMID:27197934

  2. Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes.

    PubMed

    Chen, Chih-Ping; Huang, Ming-Chao; Chen, Yi-Yung; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Town, Dai-Dyi; Wang, Wayseen

    2013-07-25

    We present prenatal diagnosis of a de novo distal deletion involving 5p(5p15.1→pter) using uncultured amniocytes in a pregnancy with cerebellar hypoplasia, hypospadias and facial dysmorphisms in the fetus. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of CTNND2, SEMA5A, TERT, SRD5A1 and TPPP. We speculate that haploinsufficiency of SRD5A1 and TPPP may be responsible for hypospadias and cerebellar hypoplasia, respectively, in this case. PMID:23500598

  3. A case of fetal osteogenesis imperfecta type 2A: longitudinal observation of natural course in utero and pitfalls for prenatal ultrasound diagnosis.

    PubMed

    Kimura, Ibuki; Araki, Ryota; Yoshizato, Toshiyuki; Miyamoto, Shingo

    2015-10-01

    We present a case of osteogenesis imperfecta (OI) type 2A in which a natural course in utero was observed from 23 weeks' gestation to term. At 23 weeks' gestation, a sonographic examination showed a cloverleaf skull-like head, a narrow thorax, and marked shortening of the long bones with bowing of the femurs and humeri. Follow-up examinations showed that the cloverleaf skull-like head was not evident at 28 weeks' gestation. Discontinuity of the ribs and femurs was observed at 26 and 30 weeks' gestation, respectively. This finding suggested bone fractures, which were confirmed by three-dimensional computed tomography at 32 weeks' gestation. Ultrasonographic findings of bones, including the long bones and calvarium, changed with advancing gestation during the second trimester. Characteristic features of OI type 2A were evident during the late second to early third trimesters. Repeated ultrasonographic examinations together with three-dimensional computed tomography are necessary for the definitive diagnosis of OI type 2A in the second trimester. PMID:26576983

  4. Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.

    PubMed Central

    Strautnieks, S; Rutland, P; Winter, R M; Baraitser, M; Malcolm, S

    1992-01-01

    A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis. RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family. A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand conformation polymorphism (SSCP) analysis of a variant in exon 4 of the PLP gene. The fetus was predicted to be unaffected. Sequencing of the exon from the CVS, the predicted-carrier mother, and the obligate-carrier grandmother revealed an A-to-C change at nucleotide 541 in the two women but not in the fetus. As this change results in a Thr-to-Pro change at amino acid 181 in a region of the gene predicted to be part of a transmembrane segment, it was concluded that this was the mutation causing the disease in this family. In addition, in a second family, an exon 5 variant band pattern on SSCP analysis was shown by sequencing to be due to a T-to-C change at nucleotide 668. This results in a Leu-to-Pro change in a carrier mother and in her two affected sons. These results provide further examples of mutations in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of SSCP in genetic analysis. Images Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:1384324

  5. The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.

    PubMed

    Moser, A E; Singh, I; Brown, F R; Solish, G I; Kelley, R I; Benke, P J; Moser, H W

    1984-05-01

    The cerebrohepatorenal (Zellweger) syndrome is a fatal autosomal recessive disorder manifested in the neonatal period by profound hypotonia, psychomotor retardation, dysmorphic features, and an enlarged liver. In this study we demonstrate fivefold or greater increases of very-long-chain fatty acid levels, particularly hexacosanoic acid (C26:0) and hexacosenoic acid (C26:1), in plasma and cultured skin fibroblasts from 20 patients. Similar findings in cultured amniocytes from 3 of 14 women in whom the fetus was at risk of the Zellweger syndrome permitted prenatal diagnosis. Oxidation of very-long-chain fatty acids, which normally takes place in the peroxisome, was impaired in homogenates of cultured skin fibroblasts and amniocytes. This observation extends the evidence that the Zellweger syndrome belongs to the newly formulated category of peroxisomal disorders. The pattern of excess very-long-chain fatty acids differs from that demonstrated previously in patients with childhood adrenoleukodystrophy. The study of very-long-chain fatty acids provides a convenient method for the early diagnosis and prenatal detection of the Zellweger syndrome.

  6. Stable isotope dilution analysis of isovalerylglycine in amniotic fluid and urine and its application for the prenatal diagnosis of isovaleric acidemia.

    PubMed

    Hine, D G; Hack, A M; Goodman, S I; Tanaka, K

    1986-03-01

    A stable isotope dilution method was developed to measure accurately small amounts of isovalerylglycine in amniotic fluid and urine for the prenatal diagnosis of isovaleric acidemia. [4,4,4-D3]Isovalerylglycine was synthesized and used as an internal standard. Samples were extracted, methylated, and analyzed by chemical ionization gas chromatography-mass spectrometry operated in the selected ion monitoring mode. This method is very sensitive (lower limit approximately 5 ng/ml), linear over three orders of magnitude above 10 ng/ml up to at least 10 micrograms/ml and reproducible. No isovalerylglycine was detected at all in amniotic fluids from eleven normal pregnant women with an exception of a single case which contained 6 ng/ml. Amniotic fluids from five pregnancies at risk were analyzed. Two of these samples had isovalerylglycine concentrations of 957 and 556 ng/ml. Three others contained 18, 18, and 17 ng/ml of isovalerylglycine. Postpartum diagnostic tests and/or in vitro assay of isovaleryl-CoA dehydrogenase of [1-14C] isovaleric acid oxidation using amniocytes confirmed that the first two fetuses were affected by isovaleric acidemia, whereas the latter three were unaffected. The method described in this report provides a highly accurate and reliable technique for the prenatal diagnosis of isovaleric acidemia.

  7. Prenatal diagnosis and genetic analysis of a fetus with 47,XX,+21/46,XX mosaicism and XX/XY chimerism.

    PubMed

    Hwa, Hsiao-Lin; Ko, Tsang-Ming; Huang, Chien-Hao; Chang, Li-Shu

    2006-08-01

    Prenatal diagnosis of simultaneous occurrence of chimerism and autosomal mosaicism is extremely rare. We report the prenatal diagnosis and genetic analysis of a fetus in a twin pregnancy with mosaic 47,XX,+21/46,XX with chimeric XX/XY. A 36-year-old, para 1, woman was referred for genetic counseling at 20 weeks' gestation because of abnormal karyotype (47,XX,+21/46,XX) in one fetus in a twin pregnancy. Cordocentesis revealed 47,XX,+21[3]/46,XX[35]/46,XY[7] in this fetus. Postnatal cytogenetic analysis of cord blood confirmed three cell lines in this twin (A) and 46,XY in the co-twin (B). Postmortem pathologic findings of both fetuses were normal. Fluorescence in situ hybridization identified three cell lines in the cord blood of twin A. Molecular genetic analysis using polymorphic DNA markers revealed parental origin of fetal tissue, and confirmed the chimeric status. Molecular genetic analysis with polymorphic DNA markers help to differentiate chimerism from mosaicism and define the origin of cell lines, which may have importance in genetic counseling.

  8. Prenatal diagnosis and physical model reconstruction of agnathia-otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester.

    PubMed

    Menezes, Gláucia Aparecida; Araujo Júnior, Edward; Lopes, Jorge; Belmonte, Simone; Tonni, Gabriele; Werner, Heron

    2016-08-01

    Agnathia-otocephaly or agnathia-sinotia-microstomy syndrome is the most severe malformation affecting the first branchial arch. It is a rare congenital anomaly characterized by absence of the lower jaw and abnormal ear positioning. Prenatal diagnosis is possible on conventional 2-D ultrasound in the second trimester. Three-dimensional ultrasound enhances detection of abnormal facial phenotype, especially in surface rendering mode. In addition, 3-D volume datasets are used to produce a physical model of the anomaly. We present a case of second trimester ultrasound diagnosis of agnathia-otocephaly associated with limb deformities. A physical model produced using 3-D ultrasound volume datasets facilitated better understanding of this congenital malformation, and improvement of parental counselling and management by the multispecialist team.

  9. Normative Scores and Factor Structure of the Profile of Mood States for Women Seeking Prenatal Diagnosis for Advanced Maternal Age.

    ERIC Educational Resources Information Center

    Tunis, Sandra L.; And Others

    1990-01-01

    A sample of pregnant women (N=705) was given the monopolar version of the Profile of Mood States (POMS) in prenatal counseling for advanced maternal age to develop normative data and to determine the factor structure of the POMS for this group of women in the first trimester of pregnancy. (SLD)

  10. Diagnostic Medical Sonographers: Seeing with Sound.

    ERIC Educational Resources Information Center

    Lacey, Alan

    2001-01-01

    Explains how diagnostic medical sonographers use special equipment to direct high frequency sound waves into areas of a patient's body. Describes specialties within the occupation, working conditions, employment and outlook, earnings, and necessary training and qualifications. (JOW)

  11. Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits.

    PubMed

    Wilson, R Douglas; Gagnon, Alain; Audibert, François; Campagnolo, Carla; Carroll, June; Brock, Jo-Ann; Chong, Karen; Johnson, Jo-Ann; MacDonald, William; Okun, Nanette; Pastuck, Melanie; Vallee-Pouliot, Karine

    2015-07-01

    pathologie de possibles anomalies fœtales. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans Medline, PubMed et The Cochrane Library jusqu’en juin 2014 au moyen d’un vocabulaire contrôlé (« prenatal diagnosis », « amniocentesis », « chorionic villi sampling », « cordocentesis ») et de mots clés (« prenatal screening », « prenatal genetic counselling », « post-procedural pregnancy loss rate ») appropriés. Les résultats ont été restreints aux analyses systématiques, aux études observationnelles et aux essais comparatifs randomisés / essais cliniques comparatifs publiés en anglais entre janvier 1985 et juin 2014. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu’en juin 2014. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d’essais cliniques et auprès de sociétés de spécialité médicale nationales et internationales. Valeurs : La qualité des résultats a été évaluée au moyen des critères décrits dans le rapport du Groupe d’étude canadien sur les soins de santé préventifs (Tableau). Avantages, désavantages et coûts : Consentement éclairé de la patiente, transfert des connaissances, évaluation du risque génétique prénatal, soulagement de l’anxiété, création d’anxiété, défense des droits, compréhension du dépistage fœtal, limites du dépistage fœtal, choix en matière de prise en charge de la grossesse, complication de la grossesse ou fausse couche, soins opportuns et améliorés pour l’accouchement d’un enfant présentant une morbidité reconnue. Recommandations 1. Les fournisseurs de soins de santé devraient

  12. Appendiceal phlegmon mimicking intussusception on ultrasound: correspondence between sonographic and operative findings.

    PubMed

    Mentessidou, Anastasia; Mirilas, Petros

    2015-07-01

    Little is known about the possibility that ruptured appendicitis may produce a false sonographic appearance of intussusception. We present here a case of a periappendiceal phlegmon mimicking ileocolic intussusception on ultrasound in a 3.5-year-old girl and provide a surgico-anatomic explanation on the basis of the intraoperative findings for the false sonographic image. CT imaging was used to make the diagnosis. Intraoperatively, it was revealed that the cecum and sigmoid, which were adherent to each other with pseudomembranes, formed an intestinal mass around the appendix. Accordingly, the appendicolith at the center of the phlegmon was responsible for the central echogenicity, and the surrounding cecum and sigmoid for the external hypoechoic and hyperechoic rings of the target-sign appearing mass on the preoperative ultrasound. Such an understanding of the etiology of the false sonographic image may help to increase awareness and avoid misdiagnosis.

  13. Pleural and pericardial effusion: a potential ultrasonographic marker for the prenatal differential diagnosis between congenital diaphragmatic eventration and congenital diaphragmatic hernia

    PubMed Central

    Jeanty, C; Nien, JK; Espinoza, J; Kusanovic, JP; Goncalves, LF; Qureshi, F; Jacques, S; Lee, W; Romero, R

    2007-01-01

    Objectives To determine whether or not the presence of pleural and/or pericardial effusion can be used prenatally as an ultrasonographic marker for the differential diagnosis between diaphragmatic eventration and diaphragmatic hernia. Methods We present two case reports of non-isolated diaphragmatic eventration associated with pleural and/or pericardial effusion. Additionally, we reviewed the literature for all cases of congenital diaphragmatic hernia (CDH) and diaphragmatic eventration that met the following criteria: (1) prenatal diagnosis of a diaphragmatic defect and (2) definitive diagnosis by autopsy or surgery. The frequencies of pleural effusion, pericardial effusion, and hydrops were compared between the two conditions using the Fisher’s exact test. A subanalysis was conducted of cases with isolated diaphragmatic defects (i.e. diaphragmatic defects not associated with hydrops and other major structural or chromosomal anomalies). Results A higher proportion of fetuses with diaphragmatic eventration had associated pleural and pericardial effusions compared with fetuses with diaphragmatic hernia (58% (7/12) vs. 3.7% (14/382), respectively, P < 0.001). This observation remained true when only cases of diaphragmatic defects not associated with hydrops and other major structural or chromosomal anomalies were compared (29% (2/7) with eventration vs. 2.2% (4/178) with CDH, P < 0.02). Conclusions The presence of pleural and/or pericardial effusion in patients with diaphragmatic defects should raise the possibility of a congenital diaphragmatic eventration. This information is clinically important for management and counseling because the prognosis and treatment for CDH and congenital diaphragmatic eventration are different. PMID:17366518

  14. Prenatal Diagnosis of Congenital High Airway Obstruction Syndrome: Report of Two Cases and Brief Review of the Literature

    PubMed Central

    Pala, Halil Gursoy; Nese, Nalan; Tarhan, Serdar; Baytur, Yesim

    2013-01-01

    Congenital high airway obstruction syndrome (CHAOS) is the obstruction of the fetal upper airways, which may be partial or complete. It is usually incompatible with life. Prenatal recognition of the disease is quite important due to the recently described management options. We report here two cases of CHAOS due to tracheal atresia diagnosed by antenatal ultrasonography and fetal MRI. We also briefly review the relevant literature with the associated management options. PMID:24251054

  15. Identification of PCSK9 as a novel serum biomarker for the prenatal diagnosis of neural tube defects using iTRAQ quantitative proteomics

    PubMed Central

    An, Dong; Wei, Xiaowei; Li, Hui; Gu, Hui; Huang, Tianchu; Zhao, Guifeng; Liu, Bo; Wang, Weilin; Chen, Lizhu; Ma, Wei; Zhang, Henan; Cao, Songying; Yuan, Zhengwei

    2015-01-01

    To identify candidate serum molecule biomarkers for the non-invasive early prenatal diagnosis of neural tube defects (NTDs), we employed an iTRAQ-based quantitative proteomic approach to analyze the proteomic changes in serum samples from embryonic day (E) 11 and E13 pregnant rats with spina bifida aperta (SBA) induced by all-trans retinoic acid. Among the 390 proteins identified, 40 proteins at E11 and 26 proteins at E13 displayed significant differential expression in the SBA groups. We confirmed 5 candidate proteins by ELISA. We observed the space-time expression changes of proprotein convertase subtilisin/kexin type 9 (PCSK9) at different stages of fetal development, including a marked decrease in the sera of NTD pregnancies and gradual increase in the sera of normal pregnancies with embryonic development. PCSK9 demonstrated the diagnostic efficacy of potential NTD biomarkers [with an area under the receiver operating characteristic curve of 0.763, 95% CI: 065–0.88]. Additionally, PCSK9 expression in the spinal cords and placentas of SBA rat fetuses was markedly decreased. PCSK9 could serve as a novel molecular biomarker for the non-invasive prenatal screening of NTDs and may be involved in the pathogenesis of NTDs at critical periods of fetal development. PMID:26691006

  16. "I do not want my baby to suffer as I did"; prenatal and preimplantation genetic diagnosis for BRCA1/2 mutations: a case report and genetic counseling considerations.

    PubMed

    Dagan, Efrat; Gershoni-Baruch, Ruth; Kurolap, Alina; Goldberg, Yael; Fried, Georgeta

    2014-07-01

    This article presents the complexity of prenatal genetic diagnosis and preimplantation genetic diagnosis for hereditary breast-ovarian cancer syndrome. These issues are discussed using a case report to highlight the genetic counseling process, together with decision-making considerations, in light of the clinical, psychological, and ethical perspectives, of both the mutation carriers and health professionals; and the health policy regarding these procedures in Israel compared to several European countries.

  17. Low utilization of prenatal and pre-implantation genetic diagnosis in Huntington disease - risk discounting in preventive genetics.

    PubMed

    Schulman, J D; Stern, H J

    2015-09-01

    Huntington disease (HD) is a late-onset, fatal neurodegenerative disorder caused by a (CAG) triplet repeat expansion in the Huntingtin gene that enlarges during male meiosis. In 1996 in this journal, one of us (J. D. S.) presented a methodology to perform pre-implantation genetic diagnosis in families at-risk for HD without revealing the genetic status of the at-risk parent. Despite the introduction of accurate prenatal and pre-implantation genetic testing which can prevent transmission of the abnormal HD gene in the family permanently, utilization of these options is extremely low. In this article, we examine the decision-making process regarding genetic testing in families with HD and discuss the possible reasons for the low uptake among this group.

  18. Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development.

    PubMed

    Vanier, M T; Boue, J; Dumez, Y

    1985-10-01

    First-trimester prenatal diagnosis of Niemann-Pick disease type B was successfully achieved by sphingomyelinase assay on chorionic villi, performed directly and after 3 weeks' culture. Cultured chorionic cells were normally found to exhibit sphingomyelinase activities 3 times higher than seen in the solid biopsy, and showed a lower residual activity in the affected foetus. Their study may thus prove helpful in dubious cases. Enzyme activities and lipid patterns were studied in several organs of the aborted foetus. Lysosomal sphingomyelinase was deficient in all tissues. The lipid pattern of the brain was normal for the age, but a 4-fold sphingomyelin storage had already taken place in the liver (2.5-fold in the spleen) of this 12-gestational week foetus.

  19. Prenatal diagnosis of holoprosencephaly in two fetuses with der (7)t(1;7)(q32;q32)pat inherited from the father with double translocations.

    PubMed

    Chuang, Louise; Kuo, Pao-Lin; Yang, Hsiao-Bai; Chien, Chung-Ho; Chen, Pei-Yi; Chang, Chiung-Hsin; Chang, Fong-Ming

    2003-02-01

    The presence of two independent translocations in one person is rare. Herein, we report the prenatal diagnosis of two sibling fetuses with holoprosencephaly, whose father is a carrier of double translocations. The karyotype of the father is 46,XY, t(1;7) (q32;q32), t(14,15) (q32.1;q26.3). The two fetuses had variable facial dysmorphisms and identical cytogenetic abnormality-a derivative (7) t(1;7) (q32;q32) inherited from the father. The proband 1 showed a small mouth, a single median eye and a proboscis above the eye, while the proband 2 showed hypotelorism, a flat nose, cleft lip and cleft palate. Both fetuses also had alobar holoprosencephaly. Haploinsufficiency of the sonic hedgehog gene at 7q36 does account for the occurrence of holoprosencephaly in the two fetuses with a deletion of distal 7q (7q32 --> qter). PMID:12575020

  20. Prenatal magnetic resonance imaging as a useful adjunctive to ultrasound-enhanced diagnosis in case of a giant foetal tumour of the neck.

    PubMed

    Mittermayer, C; Brugger, P C; Lee, A; Horcher, E; Hayde, M; Bernaschek, G; Prayer, D

    2005-02-01

    Large cervical masses in the prenatal period are rare and can cause life threatening situations after birth. All available diagnostic techniques should therefore be used to determine the best mode of delivery in the case of such malformation. A large cervical mass was detected by ultrasound in a 41-year-old women, gravida 4, para 3, at 29 + 5 weeks of gestation. US imaging was most consistent with the diagnosis of a large cervical teratoma, but it was not possible to sufficiently evaluate the cervical anatomy of the oropharynx and trachea. An MRI scan demonstrated a distorted oropharynx and a trachea displaced to the right and posteriorly, but not detectable from the middle of the neck up to the larynx. Based on these facts, an EXIT procedure was planned and performed at 30 + 5 weeks of gestation. Foetal MRI provided valuable anatomical information for all specialists deciding on the indication and the pre-therapeutic planning of the EXIT procedure. PMID:15700228

  1. Clinical, pathological and sonographic characteristics of unexpected gallbladder carcinoma

    PubMed Central

    Wang, Jin-Huan; Liu, Bo-Ji; Xu, Hui-Xiong; Sun, Li-Ping; Li, Dan-Dan; Guo, Le-Hang; Liu, Lin-Na; Xu, Xiao-Hong

    2015-01-01

    Objectives: To investigate the clinical, pathological, and sonographic characteristics of unexpected gallbladder carcinoma (UGC). Methods: Of 5424 patients who had undergone cholecystectomy from December 2006 to October 2013, 54 patients with primary gallbladder carcinomas confirmed by pathological diagnosis were identified. The patients were divided into two groups: diagnosed before operation (n=34) and UGC groups (n=20), of whom the clinical, pathological, and sonographic characteristics were compared. Results: No significant differences in age, gender, location of lesion, histological type, length of the gallbladder, existence of biliary sludge, and intestinal gas interference between the two groups were found (all P>0.05). The clinical symptoms, laboratory abnormalities, tumor markers, coexisting gallbladder stones, lesion size, lesion type, degree of differentiation, and tumor staging showed statistically significant differences between the two groups (all P<0.05). On ultrasound, the width of the gallbladder, gallbladder wall thickness, vascularity on color Doppler ultrasound, and bile volume in the gallbladder showed significant differences (all P<0.05). Conclusions: UGCs are commonly found at an early stage, often well-differentiated, wall thickened, and are generally accompanied with cholelithiasis. UGCs should be taken into consideration in cases with cholelithiasis or small gallbladder on ultrasound. PMID:26379911

  2. Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens.

    PubMed Central

    Ward, B E; Gersen, S L; Carelli, M P; McGuire, N M; Dackowski, W R; Weinstein, M; Sandlin, C; Warren, R; Klinger, K W

    1993-01-01

    Detection of chromosome aneuploidies in uncultured amniocytes is possible using fluorescence in situ hybridization (FISH). We herein describe the results of the first clinical program which utilized FISH for the rapid detection of chromosome aneuploidies in uncultured amniocytes. FISH was performed on physician request, as an adjunct to cytogenetics in 4,500 patients. Region-specific DNA probes to chromosomes 13, 18, 21, X, and Y were used to determine ploidy by analysis of signal number in hybridized nuclei. A sample was considered to be euploid when all autosomal probes generated two hybridization signals and when a normal sex chromosome pattern was observed in greater than or equal to 80% of hybridized nuclei. A sample was considered to be aneuploid when greater than or equal to 70% of hybridized nuclei displayed the same abnormal hybridization pattern for a specific probe. Of the attempted analyses, 90.2% met these criteria and were reported as informative to referring physicians within 2 d of receipt. Based on these reporting parameters, the overall detection rate for aneuploidies was 73.3% (107/146), with an accuracy of informative results for aneuploidies of 93.9% (107/114). Compared to cytogenetics, the accuracy of all informative FISH results, euploid and aneuploid, was 99.8%, and the specificity was 99.9%. In those pregnancies where fetal abnormalities had been observed by ultrasound, referring physicians requested FISH plus cytogenetics at a significantly higher rate than they requested cytogenetics alone. The current prenatal FISH protocol is not designed to detect all chromosome abnormalities and should only be utilized as an adjunctive test to cytogenetics. This experience demonstrates that FISH can provide a rapid and accurate clinical method for prenatal identification of chromosome aneuploidies. PMID:8488836

  3. Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: Clinical experience with 4,500 specimens

    SciTech Connect

    Ward, B.E.; Gersen, S.L.; Carelli, M.P.; McGuire, N.M.; Dackowski, W.R.; Klinger, K.W. ); Weinstein, M. ); Sandlin, C. ); Klinger, K.W. )

    1993-05-01

    Detection of chromosome aneuploidies in uncultured amniocytes is possible using fluorescence in situ hybridization (FISH). The authors herein describe the results of the first clinical program which utilized FISH for the rapid detection of chromosome aneuploidies in uncultured amniocytes. FISH was performed on physician request, as an adjunct to cytogenetics in 4,500 patients. Region-specific DNA probes to chromosomes 13, 18, 21, X, and Y were used to determine ploidy by analysis of signal number in hybridized nuclei. A sample was considered to be euploid when all autosomal probes generated two hybridization signals and when a normal sex chromosome pattern was observed in greater than or equal to 80% of hybridized nuclei. A sample was considered to be aneuploid when greater than or equal to 70% of hybridized nuclei displayed the same abnormal hybridization pattern for a specific probe. Of the attempted analyses, 90.2% met these criteria and were reported as informative to referring physicians within 2 d of receipt. Based on these reporting parameters, the overall detection rate for aneuploidies was 73.3% (107/146), with an accuracy of informative results for aneuploidies of 93.9% (107/114). Compared to cytogenetics, the accuracy of all informative FISH results, euploid and aneuploid, was 99.8%, and the specificity was 99.9%. In those pregnancies where fetal abnormalities had been observed by ultrasound, referring physicians requested FISH plus cytogenetics at a significantly higher rate than they requested cytogenetics alone. The current prenatal FISH protocol is not designed to detect all chromosome abnormalities and should only be utilized as an adjunctive test to cytogenetics. This experience demonstrates that FISH can provide a rapid and accurate clinical method for prenatal identification of chromosome aneuploidies. 40 refs., 1 fig., 5 tabs.,

  4. Prenatal diagnosis: From policy to practice. Two distinct ways of managing prognostic uncertainty and anticipating disability in Brazil and in France.

    PubMed

    Ville, Isabelle; Mirlesse, Véronique

    2015-09-01

    Prenatal diagnosis (PND) has gradually established itself as part of the pregnancy monitoring process, with a view to reducing the number of births of children exposed to disability by combining the use of biomedical tools with laws that authorise abortion in cases of foetal pathology. This article looks at how laws which vary from one country to another modulate the way in which PND practices are organised on a daily basis, determine the discourse of practitioners and lead them to adopt specific stances during prenatal consultations with couples coping with a foetal anomaly. We present a comparative ethnographic study, which took place between 2009 and 2011 in France and Brazil, in reference units, based on observation of consultations, professional meetings, and interviews with health practitioners. The fact that access to abortion due to foetal pathology is possible in France, and criminalised in Brazil, conditions how doctors analyse the framework of their medical practice and approach the issue of disability with couples during consultations. In France, practitioners would appear to be satisfied with a professional framework that they themselves created. Faced with prognostic uncertainty, the legal obligation to inform encourages them to discuss all of the potential complications of the diagnosed anomalies and leads them to provide probabilistic information about the life of the child to be, supported by evidence-based medicine. In Brazil, in the public service, the lack of access to abortion has created a malaise among practitioners who criticise this impediment to the objective nature of their practice and to the quality of the information that they provide. Some use prognostic uncertainty to direct the thoughts of women and couples towards the dynamics proper to each individual human trajectory within a given family and a specific social environment.

  5. Prenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome: case report and review of the literature.

    PubMed

    Megier, P; Ayeva-Derman, M; Esperandieu, O; Aubry, M C; Couly, G; Desroches, A

    1998-12-01

    We present an antenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome. This rare dysmorphic disorder (only 51 cases have been reported to date) mainly associates defective costal development with features of the Pierre-Robin syndrome. The diagnosis is very often made at birth and the prognosis is very poor. Antenatal ultrasound examination may show a combination of orofacial and chest maldevelopment. In our case the diagnosis was made at 20 weeks' gestation during a routine ultrasound examination and the patient chose to terminate the pregnancy at 24 weeks.

  6. [Differential diagnostic procedure in sonographically detected fetal cystic hygroma].

    PubMed

    Holzgreve, W

    1985-01-01

    A series of 5 consecutive cases of fetal cystic hygroma diagnosed prenatally in the second trimester by sonography within a year in an ultrasound screening program is presented. 3 fetuses had a 45,X karyotype, one fetus had a 47,XY,+21 chromosome constitution and in one case no cytogenetic abnormality could be found. Because there was a cleft palate present in this latter female fetus, it is possible that this was a case of the recently described malformation syndrome. 3 of the pregnancies with fetal cystic hygroma ended in spontaneous abortion, in the other 2 cases the parents decided after careful genetic counseling to have an elective termination of pregnancy. Although Turner syndrome is the most frequent finding in cases of nuchal hygroma detected in utero by ultrasound, careful sonographic and cytogenetic studies as well as a detailed family history have to be obtained to delineate the cause of the malformation. On autopsy in all 3 cases with 45,X karyotype there were streak gonads, in 2 cases an additional hypoplasia of the aortic arch was found. Amniotic fluid alpha-fetoprotein and acetylcholinesterase determinations did not prove to add any significant information to the ultrasound evaluation of fetal cystic hygroma.

  7. Sonographic findings in horses with mediastinal lymphosarcoma: 13 cases (1985-1992).

    PubMed

    Garber, J L; Reef, V B; Reimer, J M

    1994-11-15

    Sonographic findings correlated with necropsy findings in 8 of 9 horses in which the cranial portion of the mediastinum was evaluated by use of both methods. Cranial mediastinal masses were imaged as multilobular and homogeneously hypoechoic; a complex echogenic pattern was observed with necrosis within the mass. Pleural effusion was a common finding in horses with mediastinal lymphosarcoma. Cytologic evaluation of pleural fluid samples was useful in diagnosis of lymphosarcoma in 10 of 12 horses that had thoracentesis. Sonographic examination of the thorax and cranial portion of the mediastinum can aid in the diagnosis of mediastinal lymphosarcoma in horses. Such examination should be performed in horses with clinical signs of cranial vena cava obstruction in which pleural effusion is detected, or when thoracic lymphosarcoma is suspected. PMID:7698925

  8. X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis.

    PubMed Central

    Zonana, J; Clarke, A; Sarfarazi, M; Thomas, N S; Roberts, K; Marymee, K; Harper, P S

    1988-01-01

    X-linked hypohidrotic ectodermal dysplasia (H.E.D.) is a disorder of abnormal morphogenesis of ectodermal structures and is of unknown pathogenesis. Neither relatively accurate carrier detection nor prenatal diagnosis has been available. Previous localization of the disorder by linkage analysis utilizing restriction-fragment polymorphisms, by our group and others, has placed the disorder in the general pericentromeric region. We have extended our previous study by analyzing 36 families by means of 10 DNA probes at nine marker loci and have localized the disorder to the region Xq11-Xq21.1, probably Xq12-Xq13. Three loci--DXS159 (theta = .01, z = 14.84), PGK1 (theta = .02, z = 13.44), and DXS72 (theta = .02, z = 11.38)--show very close linkage to the disorder, while five other pericentromeric loci (DXS146, DXS14, DXYS1, DXYS2, and DXS3) display significant but looser linkage. Analysis of the linkage data yields no significant evidence for nonallelic heterogeneity for the X-linked form of the disorder. Both multipoint analysis and examination of multiply informative meioses with known phase establish that the locus for H.E.D. is flanked on one side by the proximal long arm loci DXYS1, DXYS2, and DXS3 and on the other side by the short arm loci DXS146 and DXS14. Multipoint mapping could not resolve the order of H.E.D. and the three tightly linked loci. This order can be inferred from published data on physical mapping of marker loci in the pericentromeric region, which have utilized somatic cell hybrid lines established from a female with severe manifestations of H.E.D., and an X/9 translocation (breakpoint Xq13.1). If one assumes that the breakpoint of the translocation is within the locus for H.E.D. and that there has not been a rearrangement in the hybrid line, then DXS159 would be proximal to the disorder and PGK1 and DXS72 would be distal to the disorder. Both accurate carrier detection and prenatal diagnosis are now feasible in a majority of families at risk for

  9. Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling.

    PubMed

    Godino, Lea; Pompilii, Eva; D'Anna, Federica; Morselli-Labate, Antonio M; Nardi, Elena; Seri, Marco; Rizzo, Nicola; Pilu, Gianluigi; Turchetti, Daniela

    2016-03-01

    Despite the increasing availability and effectiveness of non-invasive screening for foetal aneuploidies, most women of advanced maternal age (AMA) still opt for invasive tests. A retrospective cross-sectional survey was performed on women of AMA undergoing prenatal invasive procedures, in order to explore their motivations and the outcome of preliminary genetic counselling according to the approach (individual or group) adopted. Of 687 eligible women, 221 (32.2%) participated: 117 had received individual counselling, while 104 had attended group sessions. The two groups did not differ by socio-demographic features. The commonest reported reason to undergo invasive tests was AMA itself (67.4%), while only 10.4% of women mentioned the opportunity of making informed choices. The majority perceived as clear and helpful the information received at counselling, and only 12.7% had doubts left that, however, often concerned non-pertinent issues. The impact of counselling on risk perception and decisions was limited: a minority stated their perceived risk of foetal abnormalities had either increased (6.8%) or reduced (3.6%), and only one eventually declined invasive test. The 52.6% of women expressed a preference toward individual counselling, which also had a stronger impact on perceived risk reduction (P=0.003). Nevertheless, group counselling had a more favourable impact on both clarity of understanding and helpfulness (P=0.0497 and P=0.035, respectively). The idea that AMA represents an absolute indication for invasive tests appears deeply rooted; promotion of non-invasive techniques may require extensive educational efforts targeted to both the general population and health professionals.

  10. Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

    PubMed

    Gupta, Deepti; Bijarnia-Mahay, Sunita; Saxena, Renu; Kohli, Sudha; Dua-Puri, Ratna; Verma, Jyotsna; Thomas, E; Shigematsu, Yosuke; Yamaguchi, Seiji; Deb, Roumi; Verma, Ishwar Chander

    2015-09-01

    Maple syrup urine disease (MSUD) is caused by mutations in genes BCKDHA, BCKDHB, DBT encoding E1α, E1β, and E2 subunits of enzyme complex, branched-chain alpha-ketoacid dehydrogenase (BCKDH). BCKDH participates in catabolism of branched-chain amino acids (BCAAs) - leucine, isoleucine and valine in the energy production pathway. Deficiency or defect in the enzyme complex causes accumulation of BCAAs and keto-acids leading to toxicity. Twenty-four patients with MSUD were enrolled in the study for molecular characterization and genotype-phenotype correlation. Molecular studies were carried out by sequencing of the 3 genes by Sanger method. Bioinformatics tools were employed to classify novel variations into pathogenic or benign. The predicted effects of novel changes on protein structure were elucidated by 3D modeling. Mutations were detected in 22 of 24 patients (11, 7 and 4 in BCKDHB, BCKDHA and DBT genes, respectively). Twenty mutations including 11 novel mutations were identified. Protein modeling in novel mutations showed alteration of structure and function of these subunits. Mutations, c.1065 delT (BCKDHB gene) and c.939G > C (DBT gene) were noted to be recurrent, identified in 6 of 22 alleles and 5 of 8 alleles, respectively. Two-third patients were of neonatal classical phenotype (16 of 24). BCKDHB gene mutations were present in 10 of these 16 patients. Prenatal diagnoses were performed in 4 families. Consanguinity was noted in 37.5% families. Although no obvious genotype-phenotype correlation could be found in our study, most cases with mutation in BCKDHB gene presented in neonatal period. Large number of novel mutations underlines the heterogeneity and distinctness of gene pool from India. PMID:26257134

  11. Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus.

    PubMed

    Le Caignec, C; Boceno, M; Joubert, M; Winer, N; Aubron, F; Fallet-Bianco, C; Rival, J M

    2003-02-01

    Marker or ring X [r(X)] chromosomes of varying size are often found in patients with Turner syndrome. Patients with very small r(X) chromosomes that did not include the X-inactivation locus (XIST) have been described with a more severe phenotype. Small r(X) chromosomes are rare in males and there are only five previous reports of such cases. We report the identification of a small supernumerary X chromosome in an abnormal male fetus. Cytogenetic analysis from chorionic villus sampling was performed because of fetal nuchal translucency thickness and it showed mosaicism 46,XY/47,XY,+r(X)/48,XY,+r(X),+r(X). Fluorescence in situ hybridizations (FISH) showed the marker to be of X-chromosome origin and not to contain the XIST locus. Additional specific probes showed that the r(X) included a euchromatic region in proximal Xq. At 20 weeks gestation, a second ultrasound examination revealed cerebral abnormalities. After genetic counselling, the pregnancy was terminated. The fetus we describe is the first male with a mosaic XIST-negative r(X) chromosome identified at prenatal diagnosis. The phenotype we observed was probably the result of functional disomy of the genes in the r(X) chromosome, secondary to loss of the XIST locus. PMID:12575022

  12. First-trimester maternal serum human chorionic gonadotrophin as a marker for fetal chromosomal disorders. The Dutch Working Party on Prenatal Diagnosis.

    PubMed

    Van Lith, J M

    1992-06-01

    The Dutch Working Party on Prenatal Diagnosis has initiated a study on the possibilities of first-trimester screening for fetal chromosomal disorders. We report on maternal serum human chorionic gonadotrophin (MS-hCG) measurements in 1348 pregnancies with a chromosomally normal fetus and 53 pregnancies with a chromosomally abnormal fetus. The median MS-hCG concentration in 24 pregnancies with Down's syndrome was 1.19 multiples of the normal median (MoM). The MS-hCG distributions in normal and Down's syndrome pregnancies did not differ significantly (t-test: t = 1.945, p greater than 0.05). We also found no difference between normal pregnancies and pregnancies with other chromosomal disorders (six cases of trisomy 18, MoM = 0.80; four cases of sex chromosome abnormality, MoM = 1.01; 17 cases of chromosomal mosaicism in chorionic villi, MoM = 1.11). Selecting an upper limit at the 90th centile could detect 25 per cent of pregnancies with Down's syndrome. We conclude that, in the first trimester, MS-hCG as a screening factor for Down's syndrome is of minor value. However, MS-hCG could be a useful factor in a first-trimester screening programme based on a combination of markers. PMID:1387477

  13. First-trimester maternal serum alpha-fetoprotein as a marker for fetal chromosomal disorders. Dutch Working Party on Prenatal Diagnosis.

    PubMed

    Van Lith, J M

    1994-10-01

    We evaluated first-trimester maternal serum alpha-fetoprotein (MS-AFP) as a marker for fetal chromosomal disorders. The multicentre study was performed under the auspices of the Dutch Working Party on Prenatal Diagnosis. MS-AFP was measured in 2404 normal pregnancies and 72 chromosomally abnormal pregnancies. The median multiple of the normal median (MOM) in 32 Down's syndrome pregnancies was 0.83 with a 95 per cent confidence interval ranging from 0.60 to 1.04. The difference between the distributions of first-trimester MS-AFP in normal and Down's syndrome pregnancies was statistically significant (t-test: t = 2.34, P < 0.05). Thirty-one per cent of the Down's syndrome pregnancies were found below the tenth percentile. We found no difference between normal pregnancies and pregnancies with other chromosomal disorders (eight cases with trisomy 18, MOM = 1.26; seven cases with sex chromosome abnormalities, MOM = 1.07; 22 cases with a chromosomal mosaic pattern in chorionic villi, MOM = 1.08). We conclude that first-trimester MS-AFP can discriminate between normal and Down's syndrome pregnancies, but is not an effective marker. First-trimester MS-AFP has no value as a marker for other fetal chromosomal disorders. PMID:7534926

  14. Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: Implication in carrier detection and prenatal diagnosis

    SciTech Connect

    Moghrabi, N.; Clarke, D.J.; Burchell, B.; Boxer, M. )

    1993-09-01

    Crigler-Najjar syndrome type I (CN-1) is a familial disorder characterized by severe unconjugated hyperbilirubinemia and jaundice and leads to kernicterus, neurological damage, and eventual death unless treated with liver transplantation. Previous reports identified mutations in the UGT1 gene complex to be the cause of the disease. The total absence of all phenol/bilirubin UGT (UDP-glucuronosyl transferase) proteins and their activities in liver homogenate of a CN-1 patient was determined by enzymological and immunochemical analysis. A novel homozygous nonsense mutation (CGA [yields] TGA) was identified in the patient by the combined techniques of PCR and direct sequenching. This mutation was located in exon 3 of the constant region in the gene complex which is common to all phenol and bilirubin UGTs. The segregation of the mutation in the patient's family was analyzed and confirmed the recessive nature of the disease. Newly developed intragenic polymorphic probes (UGT1[sup *]4 and UGT-Const) were used on Southern blots of MspI-digested genomic DNA of the patient and his family. The segregation of haplotypes with the mutation for the patient and his family revealed the allele identified by the A1-B1-C2 haplotype to be carrying the mutation. The risk of recombination occurring is negligible, because of the intragenic nature of the probes. This study demonstrates the potential usefulness of these probes in carrier detection and prenatal/presymptomatic diagnosis. 36 refs., 5 figs., 1 tab.

  15. On prenatal diagnosis and the decision to continue or terminate a pregnancy in France: a clinical ethics study of unknown moral territories.

    PubMed

    Gaille, Marie

    2016-09-01

    This article presents a part of the results of an empirical study conducted at a Parisian hospital between 2011 and 2014. It aimed at understanding the women and couples' motivations to terminate or not a pregnancy once a prenatal diagnosis has revealed a genetically related disease in the embryo or fetus. The article first presents the social and legal context of the study, the methodology used and the pathologies that were encountered. Then, it examines the results of the interviews conducted with 5 women alone and 23 couples explaining their reasons for deciding to terminate or not the pregnancy. Finally, it explores the patients' views about the doctor's involvement in the decision-making process. The findings reveal the reasons they formulate when they ponder whether to terminate or not the pregnancy. It highlights the process of their deliberation, their hierarchisation of arguments and concerns. They also show how patients, though often consumed in sorrow, claim to be the legitimate decision-makers, especially women, in a social and legal context in which the rejection of eugenics is viewed as an undisputable principle. PMID:26864662

  16. Diagnosis of 65 cases of ampullary renal pelvis after postnatal follow-up of 1,167 newborn infants with prenatally suspected hydronephrosis

    PubMed Central

    ZHANG, LEI; LIU, CHAO; LI, FUJIANG; LI, XIANG; SUN, CHAO; SUN, HAO

    2015-01-01

    The aim of the present study was to assess the morbidity of ampullary renal pelvis (ARP) and document its natural history in post-natal life. A total of 1,167 newborn infants with prenatally suspected hydronephrosis were retrospectively analyzed. Of these, 65 patients were diagnosed with ARP by computed tomography urography (CTU) and/or magnetic resonance urography (MRU). All cases were followed up with ultrasonogrophy at 1, 3, 6 and 12 months after birth, and one case was followed up for 5 years. Changes in the separation of the renal pelvis collection system were recorded. Children with ARP accounted for 5.57% of the total cases (65/1,167) followed-up. No lack of connection between the renal calyces and the renal pelvis was detected. The long-term follow-up revealed that the separation of the renal pelvis collection system did not tend to increase over time. In addition to imaging examinations, long-term follow-up observation is recommended for the accurate diagnosis of pediatric ARP, particularly for differentiation from hydronephrosis. PMID:25452792

  17. Diagnosis of 65 cases of ampullary renal pelvis after postnatal follow-up of 1,167 newborn infants with prenatally suspected hydronephrosis.

    PubMed

    Zhang, Lei; Liu, Chao; Li, Fujiang; Li, Xiang; Sun, Chao; Sun, Hao

    2015-01-01

    The aim of the present study was to assess the morbidity of ampullary renal pelvis (ARP) and document its natural history in post-natal life. A total of 1,167 newborn infants with prenatally suspected hydronephrosis were retrospectively analyzed. Of these, 65 patients were diagnosed with ARP by computed tomography urography (CTU) and/or magnetic resonance urography (MRU). All cases were followed up with ultrasonogrophy at 1, 3, 6 and 12 months after birth, and one case was followed up for 5 years. Changes in the separation of the renal pelvis collection system were recorded. Children with ARP accounted for 5.57% of the total cases (65/1,167) followed-up. No lack of connection between the renal calyces and the renal pelvis was detected. The long-term follow-up revealed that the separation of the renal pelvis collection system did not tend to increase over time. In addition to imaging examinations, long-term follow-up observation is recommended for the accurate diagnosis of pediatric ARP, particularly for differentiation from hydronephrosis.

  18. Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.

    PubMed Central

    Dick, P T

    1996-01-01

    OBJECTIVE: To make recommendations to physicians providing prenatal care on (1) whether prenatal screening for and diagnosis of Down syndrome (DS) is advisable and (2) alternative screening and diagnosis manoeuvres. OPTIONS: "Triple-marker" screening of maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol; fetal ultrasonographic examination; amniocentesis; and chorionic villus sampling (CVS). OUTCOMES: Accuracy of detection of DS in fetuses, and risks to the mother, including psychologic distress, and to the fetus from the screening and diagnostic interventions. EVIDENCE: A MEDLINE search for relevant articles published from Jan. 1, 1966, to Mar. 31, 1994, with the use of MeSH terms "Down syndrome," "prenatal diagnosis," "screening," "prevention," "amniocentesis," "chorionic villus sampling," "ultrasonography," "anxiety," "depression" and "psychological stress" and a manual search of bibliographies, recent issues of key journals and Current Contents. VALUES: The evidence-based methods and values of the Canadian Task Force on the Periodic Health Examination were used. A high value was placed on providing pregnant women with the opportunity to determine whether they are carrying a fetus with DS and to make choices concerning the termination of the pregnancy. The economic issues involved are complex and were not considered. BENEFITS, HARMS AND COSTS: Triple-marker screening identifies an estimated 58% of fetuses with DS, but it has an estimated rate of true-positive results of 0.1% and of false-positive results of 3.7% (given a risk cut-off of one chance in 190 of DS). These rates vary with maternal age and the risk cut-off chosen. Women with a known risk of having a fetus with DS (e.g., those who have had a previous child with DS) may benefit from a reduction in anxiety after confirmation that their fetus does not have DS. Screening allows women at low risk of having a child with DS to detect fetuses with the syndrome, but

  19. Prenatal Care

    MedlinePlus

    ... many problems and prevent others. Your doctor or midwife will give you a schedule for your prenatal ... diabetes or high blood pressure, your doctor or midwife will probably want to see you more often. ...

  20. Growth adjusted sonographic age. A simplified method.

    PubMed

    Sabbagha, R E; Hughey, M; Depp, R

    1978-03-01

    It recently has been shown that the sonar predictive accuracy of gestational age can be markedly enhanced by separating fetuses into one of three cephalic growth patterns, namely, large, average, and small. In this way it becomes possible to adjust fetal age in relation to biparietal diameter (BPD) growth. In this report we are defining the application of a growth adjusted sonographic age (GASA). Additionally, we are introducing a table which simplifies the assignment of GASA on a routine basis.

  1. Ultrasound diagnosis of uterine myomas.

    PubMed

    Fascilla, Fabiana D; Cramarossa, Paola; Cannone, Rossella; Olivieri, Claudiana; Vimercati, Antonella; Exacoustos, Caterina

    2016-06-01

    Myomas represent a large part of benign gynecological pathology, widely spread in fertile female population. First step to diagnose fibroids is ultrasound (US) that can be 2-dimensional (2D), 3-dimensional (3D), Color Doppler (CD) and sonohysterography (SHG). This review develops according to MUSA's sonographic features (Morphological Uterus Sonographic Assessment). One of the main topic of interest for ultrasonographer today is endo/myometrial junctional zone (JZ), because it may be useful to discern a diagnosis of myoma and adenomyosis. Another important aspect of ultrasound is the analysis of vascularization in front of a uterine lesion. Indeed, vascular pattern can be used to make differential diagnosis between myoma-adenomyosis and leiomyosarcomas. Myomas should be described accurately according to sonographic guidelines. Sonographic features correlated with symptoms should guide an appropriate surgical or medical treatment. PMID:27014801

  2. Sonographic evaluations in elite college baseball athletes.

    PubMed

    Wang, Hsing-Kuo; Lin, Jau-Jia; Pan, Shin-Liang; Wang, Tyng-Guey

    2005-02-01

    This study compared the thickness of the biceps and supraspinatus tendons, the widths of the subacromial space in the frontal and scapular planes, and abnormal sonographic findings in the shoulders of injured, and uninjured elite college baseball athletes and healthy controls. This study recruited two groups of 42 and 12 athletes, with and without histories of shoulder injuries, respectively, as well as one control group of 16 college students who were matched for physical characteristics but not involved in sports. The results showed that the thickness of the biceps and supraspinatus tendons and the subacromial space widths at 0 degrees and 90 degrees shoulder abduction in the frontal plane were significantly greater in the athletes than in the controls (P-values <0.004). The occurrences of the acromioclavicular joint bulging, bicep tendon degeneration, infraspinatus tendon degeneration and infraspinatus cortical irregularity differ significantly between the injured athlete and the group of uninjured athletes and controls (P-values <0.05). However, only infraspinatus tendon degeneration corresponded to the injury histories. There was a high similarity of sonographic spectrum of abnormal findings among the groups. Longitudinal follow-ups are required to determine the clinical importance of the sonographic spectrums and the occurrences of abnormal finding in asymptomatic athletes' shoulders.

  3. The "dark tendon sign" (DTS): a sonographic indicator for idiopathic trigger finger.

    PubMed

    Gruber, Hannes; Peer, Siegfried; Loizides, Alexander

    2011-05-01

    Although the diagnosis of "idiopathic trigger finger" (stenosing tenovaginitis) is normally based on clinical examination alone, to date there is no reliable evaluation defining this idiopathic disease beyond an exclusion of secondary causes or an unnecessary sonographic certification of high-grade impairment. By standardized assessment of 32 patients who retrospectively fulfilled the study inclusion criteria and their comparison to a matched group of volunteers, we defined the diagnostic efficiency of the here newly proposed sonographic dark tendon sign (DTS) alone, of impaired tendon gliding alone and the combination of these two features. Pulley thickness in patients and volunteers was significantly different. The combination of clinically impaired tendon gliding plus the DTS reached a sensitivity and diagnostic efficiency of 100%. We propose this diagnostic combination as the new first line assessment features for the quick definition of idiopathic stenosing tendovaginitis during daily routine PMID:21458147

  4. Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait

    PubMed Central

    1975-01-01

    The gene lesion of the porphyrin-heme synthetic pathway in acute intermittent porphyria (AIP) is reflected in a deficient level of activity of the cytosol enzyme uroporphyrinogen I synthetase (URO-S). A marked URO-S deficiency has been demonstrated in the liver and in circulating erythrocytes of individuals with both active and latent AIP. This enzymic abnormality accounts for the excessive production and excretion into urine of the porphyrin precursors, lamda-aminolevulinic acid (ALA) and porphobilinogen (PBG) in AIP subjects. In this study, utilizing cell culture techniques, a marked URO-S deficiency has also been demonstrated in skin fibroblasts from AIP patients and in cells derived through aminocentesis from an approximately 17-wk old fetus. The prenatal diagnosis of the AIP trait in this fetus was confirmed postnatally by the demonstration in the child of a deficient level of erythrocyte URO-S activity which was comparable to those found in her AIP mother and affected sibling and which was approximately one-half the levels characterizing her normal father and aunt and a second unaffected sibling. The identification of the URO-S deficiency in cultured human fibroblasts from AIP patients was facilitated by a newly developed, sensitive assay for the enzyme activity. In this assay, the ability of such cells to convert ALA to protoporphyrin was quantitated; in the sequence of reactions involved in this transformation, URO-S is limiting so that the gene defect of AIP could be simply and precisely determined by appropriate spectrofluorometry of cell extracts. The technique described has distinct advantages over the direct enzymatic assay for URO-S activity in cultured human skin fibroblasts and permits clear differentiation of AIP carrier from normal individuals. PMID:1165472

  5. Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait.

    PubMed

    Sassa, S; Solish, G; Levere, R D; Kappas, A

    1975-09-01

    The gene lesion of the porphyrin-heme synthetic pathway in acute intermittent porphyria (AIP) is reflected in a deficient level of activity of the cytosol enzyme uroporphyrinogen I synthetase (URO-S). A marked URO-S deficiency has been demonstrated in the liver and in circulating erythrocytes of individuals with both active and latent AIP. This enzymic abnormality accounts for the excessive production and excretion into urine of the porphyrin precursors, lamda-aminolevulinic acid (ALA) and porphobilinogen (PBG) in AIP subjects. In this study, utilizing cell culture techniques, a marked URO-S deficiency has also been demonstrated in skin fibroblasts from AIP patients and in cells derived through aminocentesis from an approximately 17-wk old fetus. The prenatal diagnosis of the AIP trait in this fetus was confirmed postnatally by the demonstration in the child of a deficient level of erythrocyte URO-S activity which was comparable to those found in her AIP mother and affected sibling and which was approximately one-half the levels characterizing her normal father and aunt and a second unaffected sibling. The identification of the URO-S deficiency in cultured human fibroblasts from AIP patients was facilitated by a newly developed, sensitive assay for the enzyme activity. In this assay, the ability of such cells to convert ALA to protoporphyrin was quantitated; in the sequence of reactions involved in this transformation, URO-S is limiting so that the gene defect of AIP could be simply and precisely determined by appropriate spectrofluorometry of cell extracts. The technique described has distinct advantages over the direct enzymatic assay for URO-S activity in cultured human skin fibroblasts and permits clear differentiation of AIP carrier from normal individuals.

  6. Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis.

    PubMed Central

    Moghrabi, N; Clarke, D J; Burchell, B; Boxer, M

    1993-01-01

    Crigler-Najjar syndrome type 1 (CN-1) is a familial disorder characterized by severe unconjugated hyperbilirubinemia and jaundice and leads to kernicterus, neurological damage, and eventual death unless treated with liver transplantation. Previous reports identified mutations in the UGT1 gene complex to be the cause of the disease. The total absence of all phenol/bilirubin UGT proteins and their activities in liver homogenate of a CN-1 patient was determined by enzymological and immunochemical analysis. A novel homozygous nonsense mutation (CGA-->TGA) was identified in the patient by the combined techniques of PCR and direct sequencing. This mutation was located in exon 3 of the constant region in the gene complex which is common to all phenol and bilirubin UGTs. The segregation of the mutation in the patient's family was analyzed and confirmed the recessive nature of the disease. Newly developed intragenic polymorphic probes (UGT1* 4 and UGT-Const) were used on Southern blots of MspI-digested genomic DNA of the patient and his family. The segregation of individual alleles within the family was observed from haplotypes generated. Comparison of the segregation of haplotypes with the mutation for the patient and his family revealed the allele identified by the A1-B1-C2 haplotype to be carrying the mutation. The risk of recombination occurring is negligible, because of the intragenic nature of the probes. This study demonstrates the potential usefulness of these probes in carrier detection and prenatal/presymptomatic diagnosis. Images Figure 2 Figure 3 Figure 4 Figure 5 PMID:8102509

  7. Establishment of a prenatal diagnosis schedule as part of a prophylaxis program of factor XIII deficiency in the southeast of Iran.

    PubMed

    Naderi, Majid; Reykande, Samira Esmaeili; Dorgalaleh, Akbar; Alizadeh, Shaban; Tabibian, Shadi; Einollahi, Nahid; Moghaddam, Ebrahim Miri

    2016-01-01

    Factor XIII deficiency (FXIIID) is an extremely rare bleeding disorder with a prevalence of 1 in 3 million in the general population. Compared to its global incidence, it has the greatest prevalence in Sistan and Baluchistan Province in the southeast of Iran. The high incidence of FXIIID in this region causes a high rate of morbidity and mortality among the affected individuals because of life-threatening episodes such as central nervous system (CNS) bleeding, umbilical cord bleeding, as well as miscarriage. CNS bleeding leads to a considerable number of neurological and behavioral complications. Therefore, we have designed an established prenatal diagnosis (PND) program to prevent the increasing incidence of life-threatening bleeding episodes and related complications among neonates with congenital FXIIID. This study was conducted from September 2013 to August 2014. A consent form was signed by the parents. Fetal sampling was done via abdominal chorionic villus sampling passage under local anesthesia and ultrasonic guidance within the first trimester of pregnancy. Fetal DNA was extracted, and PCR-restriction fragment length polymorphism was performed for the only reported mutation of FXIII (Trp187Arg) in the southeast of Iran. During the period of study, PND was performed on eight fetuses. Six fetuses were offspring of parental consanguineous marriages, and all of them had a positive family history of FXIIID. Seven out of the eight fetuses had a family member with CNS bleeding due to FXIIID. Four fetuses had a FXIIID-related death. One of the fetuses bore homozygous Trp187Arg mutation, whereas six were heterozygous, and one of the mothers gave birth to an unaffected fetus. To the best of our knowledge, PND is a possible solution to control high incidence of life-threatening episodes of FXIIID in southeast Iran.

  8. The use of DHPLC (Denaturing High Performance Liquid Chromatography) in II level screening of the CFTR gene in Prenatal Diagnosis

    PubMed Central

    Mesoraca, Alvaro; Di Natale, Manuela; Cima, Antonella; Di Giacomo, Gianluca; Sarti, Monica; Barone, Maria Antonietta; Bizzoco, Domenico; Cignini, Pietro; Mobili, Luisa; DʼEmidio, Laura; Giorlandino, Claudio

    2010-01-01

    Objective: The aim of the study is to evaluate the role of Denaturing High Performance Liquid Chromatography (DHPLC) in the second level screening of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Methods: A 9-month prospective study, between June 2008 and March 2009 at Artemisia Fetal Medical Centre, included 3829 samples of amniotic fluid collected from women undergoing mid-trimester amniocentesis. The genetic diagnosis of CF was based on research of the main mutations of the CFTR gene on fetal DNA extracted from the amniocytes, (first level screening) using different commercial diagnostic systems. A second level screening using DHPLC, on the amniotic fluid and on a blood sample from the couple, was offered in case of fetuses heterozygous at first level screening. Results: Of 3829 fetuses, 134 were found to be positive, 129 heterozygous and 5 affected. Of the 129 couples, following appropriate genetic counselling, 53 requested a second level screening. Through the use of DHPLC, 44 couples were found to be negative, and in nine couples, nine rare mutations were identified. Conclusions: The first level screening can be useful to evidence up to 75% of the CF mutations. The second level screening can identify a further 10% of mutant alleles. DHPLC was found to be a reliable and specific method for the rapid identification of the rare CFTR mutations which were not revealed in initial first level screening. PMID:22439061

  9. Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome.

    PubMed

    Shackleton, C H; Roitman, E; Kratz, L; Kelley, R

    2001-03-01

    Gas chromatographic/mass spectrometric (GC/MS) analysis of maternal urine and serum steroids from 13 pregnancies at 25% risk for Smith-Lemli-Opitz syndrome (SLOS) was undertaken. All patients were between 12 and 31 weeks' gestational age. From dehydrocholesterol/cholesterol ratios determined in amniotic fluid and chorionic villus cells, five patients were shown to carry SLOS affected fetuses and eight patients were negative for the condition. Because it had previously been shown that dehydro-oestriol and dehydropregnanetriol were novel steroids produced in SLOS, these compounds were measured in the serum and urine samples of the 13 mothers. All five urine samples from SLOS affected pregnancies had high levels of both dehydrosteroid metabolites, which were below the detection limit in the non-affected pregnancies. The ratios of dehydro-oestriol/oestriol (DHE(3)/E(3)) were between 0.073 and 1.42 for the affected patients and less than 0.01 for unaffected patients. Corresponding values for dehydropregnanetriol/pregnanetriol (DHPT/PT) were 0.037-1.02 for affected and less than 0.01 for unaffected. In the positive serum sample available for analysis, the DHE(3)/E(3) ratio was 0.20 [unaffected (n=5), <0.014]. It is proposed that the measurement of DHE(3) and DHPT in maternal urine and serum may allow non-invasive antenatal diagnosis of SLOS.

  10. Immunochemical measurement of early pregnancy isoforms of HCG: potential applications to fertility research, prenatal diagnosis, and cancer.

    PubMed

    Birken, S; Kovalevskaya, G; O'Connor, J

    2001-01-01

    Human chorionic gonadotropin, the glycoprotein hormone of pregnancy, is found naturally in blood and urine in a variety of isoforms. These variants are related to both peptide bond cleavages (such as the nicked forms of hCG) and the beta core fragment urinary metabolite, as well as the larger variety of species resulting from carbohydrate heterogeneity. We have recently developed immunoassay systems that can measure nicked forms of hCG (antibody B151) as well as particular high carbohydrate variants (hyperglycosylated forms) of hCG (B152), which are associated with cancers producing hCG. Using the assay system for nicked hCG, we found that nicked hCG does not appear to be present as a significant hCG isoform during normal pregnancies if the urine specimens are well preserved. Applying the assay for hyperglycosylated hCG isoforms, we discovered that these forms are prevalent during very early pregnancy and decline rapidly to low concentration after the first 6 weeks of pregnancy. Persistence of these early pregnancy forms does not bode well for the pregnancy. Other investigators report that measurement of such hCG isoforms may aid in diagnosis of Down syndrome pregnancies. In summary, measurement of the hyperglycosylated hCG isoforms are useful for evaluation of healthy progress of normal pregnancy, as an additional detection marker for Down syndrome pregnancies, and as a potential new marker of trophoblastic malignancy. New reference preparations will soon be available for the calibration of assay systems for measurement of many of these hCG variants and metabolites. PMID:11750741

  11. Prenatal Care.

    ERIC Educational Resources Information Center

    Office of Child Development (DHEW), Washington, DC.

    Initially published by the Children's Bureau in 1913, this pamphlet has been revised frequently. Its purpose is to point out the importance of medical care during pregnancy. Comfortable pregnancies, easy labor, and better care for their new infants are the usual concerns of prospective mothers. Consequently, this 1962 edition of "Prenatal Care"…

  12. Prenatal Care.

    ERIC Educational Resources Information Center

    Health Resources and Services Administration (DHHS/PHS), Rockville, MD. Office for Maternal and Child Health Services.

    This booklet is the first in a series of publications designed to provide parents with useful information about childrearing. Contents are organized into three parts. Part I focuses on the pregnancy, prenatal care, development of the baby, pregnant lifestyles, nutrition, common discomforts, and problems of pregnancy. Part II provides information…

  13. Sonographic patterns of ribs with tumor involvement.

    PubMed

    Yang, G G; Wu, H D; Yang, P C; Kuo, S H; Luh, K T

    1991-02-01

    We analyzed the sonographic appearance of the ribs when there was tumor involvement in 16 patients (12 men and 4 women). The tumors included 11 carcinomas, 3 nonepithelial malignancies and 2 benign tumors. Three sonographic patterns on the cross section of abnormal ribs were identified. Pattern I was an eccentrical hyperechoic plate-like shadow inside a hypoechoic tumor. Pattern II was a round hyperechoic shadow or ring in the center of a hypoechoic tumor. Pattern III was a hypoechoic tumor only. The Pancoast tumor manifested pattern I. Metastatic cancer, mostly squamous cell carcinoma, manifested pattern II, and both malignant and benign tumors could manifest pattern III. In sonography, the margin and shape of the tumors, the change in the acoustic shadow of the rib and the pleural line did not differentiate the malignant tumors from benign tumors. When we routinely took a biopsy of these tumors under sonar guidance, the diagnostic yield was 100% without any complications. We conclude that the rib should be evaluated in chest sonography, and that pattern recognition and biopsy under sonar guidance are most useful.

  14. Ultrasonographic approach to diagnosis of fetal inflammatory response syndrome: a tool for at-risk fetuses?

    PubMed

    Mastrolia, Salvatore Andrea; Erez, Offer; Loverro, Giuseppe; Di Naro, Edoardo; Weintraub, Adi Yehuda; Tirosh, Dan; Baron, Joel; Hershkovitz, Reli

    2016-07-01

    Preterm parturition is a syndrome that may result from many underlying mechanisms. Infection and inflammation are the prominent ones. Intrauterine infection and inflammation have an effect akin to sepsis, and that is similar to systemic inflammatory response in adults. Indeed, there is evidence to support the association of a fetal inflammatory response syndrome (FIRS) to systemic infection and inflammation. The utilization of invasive procedures for the prenatal diagnosis of FIRS is associated with a risk for complications resulting from the invasive method. The progress in the imaging quality of obstetrical ultrasound and the development of novel methods for functional anatomical assessment of the fetal organs may help to identify, noninvasively, fetuses at risk for FIRS in patients presenting with preterm labor. We review the studies describing advanced sonographic modalities and the imaging findings in the heart, thymus, kidney, adrenal glands, and spleen of these fetuses. PMID:26821337

  15. Prenatal diagnosis of vasa previa.

    PubMed

    Bręborowicz, Grzegorz H; Markwitz, Wiesław; Szpera-Goździewicz, Agata; Dera-Szymanowska, Anna; Ropacka-Lesiak, Mariola; Szymański, Piotr; Kubiaczyk-Paluch, Beata

    2015-01-01

    Vasa previa is a rare condition in which unsupported by the placenta, umbilical cord blood vessels runs within the placental membranes between internal os of the cervix and presenting part of the fetus. We report an antenatal diagnostic procedure and management of a patient with low-lying placenta and velamentous cord insertion near to the internal os with two large fetal blood vessels coursing between the internal cervical os and fetal presenting part. An elective cesarean section was performed at 36 weeks gestation.

  16. Pelizaeus-Merzbacher disease: Detection of mutations Thr[sup 181][yields]Pro and Leu[sup 223][yields]Pro in the proteolipid protein gene, and prenatal diagnosis

    SciTech Connect

    Strautnieks, S.; Rutland, P.; Malcolm, S.; Baraitser, M. ); Winter, R.M. )

    1992-10-01

    A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis. RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family. A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand conformation polymorphism (SSC) analysis of a variant in exon 4 of the PLP gene. The fetus was predicted to be unaffected. Sequencing of the exon from the CVS, the predicted-carrier mother, and the obligate-carrier grandmother revealed an A-to-C change at nucleotide 541 in the two women but not in the fetus. As this change results in a Thr-to-Pro change at amino acid 181 in a region of the gene predicted to be part of a transmembrane segment, it was concluded that this was the mutation causing the disease in this family. In addition, in a second family, an exon 5 variant band pattern on SSCP analysis was shown by sequencing to be due to a T-to-C change at nucleotide 668. This results in a Leu-to-Pro change in a carrier mother and in her two affected sons. These results provide further examples of mutations in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of SSCP in genetic analysis. 17 refs., 6 figs., 1 tab.

  17. Lateral cervical sinus: specific sonographic findings in two pediatric cases.

    PubMed

    Hosokawa, Takahiro; Yamada, Yoshitake; Sato, Yumiko; Tanami, Yutaka; Amano, Hizuru; Fujiogi, Michimasa; Kawashima, Hiroshi; Oguma, Eiji

    2015-10-01

    A lateral cervical sinus, also known as a second pharyngeal or branchial cleft fistula/sinus, occurs when the second pharyngeal arch fails to grow caudally over the third and fourth arches, leaving remnants of the second branchial clefts in contact with the surface of the neck via a narrow canal. This type of sinus is detected on the lateral aspect of the neck directly anterior to the sternocleidomastoid muscle. We report two pediatric cases with lateral cervical sinus, and pathognomonic sonographic findings to confirm the diagnosis. The first case involved a 3-month-old boy with a sinus on the lateral neck and occasional drainage from a cervical sinus opening. Sonography revealed that the sinus tract extended between the external and internal carotid arteries. In case two, a 1-month-old girl presented with a sinus on the lateral neck and signs of acute infection at the site of a pinpoint opening. Sonography revealed an oval-shaped cystic lesion and sinus tract extending between the external and internal carotid arteries. Sonography does not require radiation or sedation for children. The best choice for the first examination for lateral cervical sinus is sonography, rather than CT, MRI, or contrast fistulograms. PMID:26576989

  18. Prenatal Ultrasound Diagnosis of a Cyst of the Oral Cavity: An Unusual Case of Thyroglossal Duct Cyst Located on the Tongue Base

    PubMed Central

    Rodríguez Tárrega, E.; Fuster Rojas, S.; Gómez Portero, R.; Roig Boronat, S.; Pérez Martínez, G.; Zamora Prado, J.; Perales Marín, A.

    2016-01-01

    We describe a case of a lingual thyroglossal duct cyst diagnosed prenatally by ultrasound at 26 weeks of gestation. The follow-up ultrasound scans revealed no changes in the cyst measurement. Surgical treatment was performed without any complication 72 hours after delivery with good results. PMID:26904331

  19. Sonographic surface localization of subcutaneous foreign bodies and masses.

    PubMed

    Creel, Stephanie A; Girish, Gandikota; Jamadar, David A; Morag, Yoav; Jacobson, Jon A

    2009-01-01

    We report a sonographic technique of skin marking of the projection of nonpalpable subcutaneous foreign bodies and masses using a paperclip. Localization and marking of the overlying skin assists in preoperative planning and further management.

  20. Sonographic Findings of Subcutaneous Sarcoidosis in 3 Cases.

    PubMed

    Tada, Saori; Watanabe, Tsuneo; Suzuki, Chigusa; Nohisa, Yuzuru; Shinoda, Koichi; Furuta, Nobuyuki; Ito, Hiroyasu; Okumura, Yoko; Shu, En; Seishima, Mariko

    2015-08-01

    Subcutaneous sarcoidosis occurs infrequently among cases of cutaneous sarcoidosis. To our knowledge, few studies have described the sonographic characteristics of subcutaneous sarcoidosis. Here we report the sonographic characteristics of 3 cases of this condition. Our results revealed 4 features: (1) an irregular hypoechoic appearance, (2) heterogeneous echogenicity, (3) perilesional hyperechoic changes, and (4) abnormal Doppler signals. Sonography is a rapid, simple, and noninvasive procedure that is useful for initial evaluation of granulomatous lesions such as subcutaneous sarcoidosis.

  1. Hyperechoic breast lesions: anatomopathological correlation and differential sonographic diagnosis.

    PubMed

    Medeiros, Marcelo Menezes; Graziano, Luciana; de Souza, Juliana Alves; Guatelli, Camila Souza; Poli, Miriam Rosalina B; Yoshitake, Rafael

    2016-01-01

    Hyperechoic lesions are not a frequent finding at breasts ultrasonography, and most of times are associated with benign pathologies that do not require further evaluation. However, some neoplasms such as invasive breast carcinomas and metastases may present with hyperechogenicity. Thus, the knowledge about differential diagnoses and identification of signs of lesion aggressiveness are of great relevance to avoid unnecessary procedures or underdiagnosis, and to support the correct clinical/surgical approach. On the basis of such concepts, the present essay describes and illustrates the main features of hyperechoic lesions at breast ultrasonography in different cases, with anatomopathological correlation.

  2. Hyperechoic breast lesions: anatomopathological correlation and differential sonographic diagnosis*

    PubMed Central

    Medeiros, Marcelo Menezes; Graziano, Luciana; de Souza, Juliana Alves; Guatelli, Camila Souza; Poli, Miriam Rosalina B.; Yoshitake, Rafael

    2016-01-01

    Hyperechoic lesions are not a frequent finding at breasts ultrasonography, and most of times are associated with benign pathologies that do not require further evaluation. However, some neoplasms such as invasive breast carcinomas and metastases may present with hyperechogenicity. Thus, the knowledge about differential diagnoses and identification of signs of lesion aggressiveness are of great relevance to avoid unnecessary procedures or underdiagnosis, and to support the correct clinical/surgical approach. On the basis of such concepts, the present essay describes and illustrates the main features of hyperechoic lesions at breast ultrasonography in different cases, with anatomopathological correlation. PMID:26929460

  3. Sonographic investigations of the gastrointestinal tract of granivorous birds.

    PubMed

    Krautwald-Junghanns, Maria-Elisabeth; Stahl, Anja; Pees, Michael; Enders, Frank; Bartels, Thomas

    2002-01-01

    This article describes the sonographic examination of the normal gastrointestinal tract of granivorous birds. Preliminary tests with dead birds were performed to get an idea of the sonographic echotexture of the avian gastrointestinal tract. Later, clinically healthy seedeaters of different weights were examined sonographically. As equipment a convex microcurved scanner with a particularly small coupling surface and an adjustable frequency from 5.5-7.5 MHz was used. For the investigation of the gastrointestinal tract, six sonographic approaches are described. After a starving time of 18 hours in the granivorous birds and water input, the best sonographic image quality could be obtained. Using this method, the crop, ventriculus, intestines, and cloaca could be demonstrated sonographically; whereas, it was not possible to visualize the normal proventriculus in granivorous birds. In contrast to mammals, the different layers of the wall of the gastrointestinal tract could not be visualized with the equipment used. Motility of individual parts of the gastrointestinal tract (GI tract), however, could be well demonstrated.

  4. Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

    PubMed Central

    2012-01-01

    Background The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. Case presentation The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY). Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1). Conclusion Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected. PMID:22747519

  5. Use of sonar in diagnosis and management of invasive gestational trophoblastic tumors.

    PubMed

    Tsai, W S

    1974-01-01

    Use of sonar in differential diagnosis between normal and molar pregnancies is well established. In this study, invasive trophoblastic tumors were investigated. Intrauterine masses were demonstrated sonographically in all 4 cases, As well as H.C.G. assay and chest X-ray, sonographic follow-up also seems to be of value in evaluating the effectiveness of the chemotherapy.

  6. [Rudimentary horn pregnancy: first trimester ultrasound diagnosis and laparoscopic confirmation].

    PubMed

    Salazar-López, R; Antillón-Valenzuela, J

    2013-08-01

    Case report of rudimentary uterine horn on first trimester pregnancy that was diagnosed by sonographic images and laparoscopically confirmed. We suggest a set of criteria for early diagnosis of this rare condition using sonographic with 3D endovaginal ultrasound. We present a first trimester extrauterine pregnancy that was diagnosed in rutinary sonographic analisys. A rudimentary horn pregnancy was detected by sonographic with 3D endovaginal ultrasound, that was confirmed laparoscopically. Rudimentary horn pregnancy was right sided without endometrial communication with the uterine body. The rudimentary horn pregnancy was laparoscopically resected, a fibrous bridge between horn and uterus is confirmed, also a normal aspect tube was observed, wich was underwent to fimbriectomy. We suggest to consider this rare posibility on extrauterine pregnancy diagnosis, and also apply 3D technology under endovaginal route to achieve an early diagnosis and avoid rupture.

  7. Prenatal Care

    MedlinePlus

    > Find Us On Facebook Twitter Pinterest Youtube Instagram Diabetes Stops Here Blog Online Community Site Menu Are You at Risk? Diagnosis Lower Your Risk Risk Test Alert Day Prediabetes My Health Advisor Tools to ...

  8. Eugenics and prenatal testing.

    PubMed

    Hubbard, R

    1986-01-01

    Prejudices against people with disabilities, poor people, and immigrants during the nineteenth century generated a science of "race improvement" called eugenics. In the United States, a number of eugenic measures were enacted early in this century, but it was in Nazi Germany that eugenics flourished under the name of racial hygiene (Rassenhygiene). In the guise of furthering the health of the German people, German scientists and physicians initially designed programs of sterilization. Next came euthanasia and finally mass extermination of "lives not worth living." Remembering this history, many German women oppose the new technical developments in prenatal diagnosis because they see them as yet another way to specify what kinds of people are and are not fit to inhabit the world. This paper tries to place the new technologies in the context of eugenics and to point out some of the ways in which the new, supposedly liberating, choices in fact limit women's control over our lives.

  9. Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.

    PubMed

    Papasavva, Thessalia; van Ijcken, Wilfred F J; Kockx, Christel E M; van den Hout, Mirjam C G N; Kountouris, Petros; Kythreotis, Loukas; Kalogirou, Eleni; Grosveld, Frank G; Kleanthous, Marina

    2013-12-01

    β-Thalassaemia is one of the most common autosomal recessive single-gene disorder worldwide, with a carrier frequency of 12% in Cyprus. Prenatal tests for at risk pregnancies use invasive methods and development of a non-invasive prenatal diagnostic (NIPD) method is of paramount importance to prevent unnecessary risks inherent to invasive methods. Here, we describe such a method by assessing a modified version of next generation sequencing (NGS) using the Illumina platform, called 'targeted sequencing', based on the detection of paternally inherited fetal alleles in maternal plasma. We selected four single-nucleotide polymorphisms (SNPs) located in the β-globin locus with a high degree of heterozygosity in the Cypriot population. Spiked genomic samples were used to determine the specificity of the platform. We could detect the minor alleles in the expected ratio, showing the specificity of the platform. We then developed a multiplexed format for the selected SNPs and analysed ten maternal plasma samples from pregnancies at risk. The presence or absence of the paternal mutant allele was correctly determined in 27 out of 34 samples analysed. With haplotype analysis, NIPD was possible on eight out of ten families. This is the first study carried out for the NIPD of β-thalassaemia using targeted NGS and haplotype analysis. Preliminary results show that NGS is effective in detecting paternally inherited alleles in the maternal plasma. PMID:23572027

  10. Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia

    PubMed Central

    Papasavva, Thessalia; van IJcken, Wilfred F J; Kockx, Christel E M; van den Hout, Mirjam C G N; Kountouris, Petros; Kythreotis, Loukas; Kalogirou, Eleni; Grosveld, Frank G; Kleanthous, Marina

    2013-01-01

    β-Thalassaemia is one of the most common autosomal recessive single-gene disorder worldwide, with a carrier frequency of 12% in Cyprus. Prenatal tests for at risk pregnancies use invasive methods and development of a non-invasive prenatal diagnostic (NIPD) method is of paramount importance to prevent unnecessary risks inherent to invasive methods. Here, we describe such a method by assessing a modified version of next generation sequencing (NGS) using the Illumina platform, called ‘targeted sequencing', based on the detection of paternally inherited fetal alleles in maternal plasma. We selected four single-nucleotide polymorphisms (SNPs) located in the β-globin locus with a high degree of heterozygosity in the Cypriot population. Spiked genomic samples were used to determine the specificity of the platform. We could detect the minor alleles in the expected ratio, showing the specificity of the platform. We then developed a multiplexed format for the selected SNPs and analysed ten maternal plasma samples from pregnancies at risk. The presence or absence of the paternal mutant allele was correctly determined in 27 out of 34 samples analysed. With haplotype analysis, NIPD was possible on eight out of ten families. This is the first study carried out for the NIPD of β-thalassaemia using targeted NGS and haplotype analysis. Preliminary results show that NGS is effective in detecting paternally inherited alleles in the maternal plasma. PMID:23572027

  11. The importance of an ergonomic workstation to practicing sonographers.

    PubMed

    Baker, Joan P; Coffin, Carolyn T

    2013-08-01

    Musculoskeletal disorders have been described in a number of professions over the years. They are defined as injuries that are caused by or aggravated by workplace activities, and they account for up to 60% of all workplace illnesses. They are known by different names, such as musculoskeletal disorder, repetitive strain injury, cumulative trauma disorder, and repetitive motion injury. Musculoskeletal disorders have only been identified in sonographers since 1997 but are increasing in incidence. Surveys done among American and Canadian sonographers in 1997 showed an 84% incidence; however, this incidence had increased to 90% by 2008. Understanding the importance of optimal body mechanics and how to maintain neutral postures will enable sonographers to reduce the risk factors associated with their profession. Even with the most advanced equipment, an ergonomic workstation is only as effective as the person using it.

  12. Associations of sonographic abnormalities of the shoulder with various grades of biceps peritendinous effusion (BPE).

    PubMed

    Chang, Ke-Vin; Chen, Wen-Shiang; Wang, Tyng-Guey; Hung, Chen-Yu; Chien, Kuo-Liong

    2014-02-01

    Bicipital peritendinous effusion (BPE), a common ultrasonographic finding of the long head of the biceps tendon, may be associated with shoulder joint derangement, but supporting evidence from large-scale studies is lacking. The aim of this cross-sectional study was to determine the strength of the association between BPE and sonographic abnormalities of the shoulder joint. We reviewed the sonographic reports of patients with suspected shoulder disorders investigated ultrasonographically between January 2011 and January 2012. BPE was graded according to its measured thickness as absent (<1 mm), mild (1-2 mm), moderate (2-3 mm) or severe (>3 mm). The associations between BPE and sonographic abnormalities were examined using multinomial logistic regression adjusted for age, gender, affected side and clinical diagnosis of frozen shoulder. The prevalence rates of absent, mild, moderate and severe BPE among the 907 shoulders examined were 64.1%, 17.8%, 10.4% and 7.7%, respectively. Frozen shoulder was associated with mild BPE (relative risk [RR] vs. participants without BPE = 1.83, 95% confidence interval [CI] = 1.28-2.50). Sonographic findings of biceps tendinopathy, subdeltoid bursitis and full-thickness tears of the supraspinatus tendon were significantly associated with the entire spectrum of BPE, whereas subscapularis tendon tears were significantly associated with moderate (RR = 2.47, 95% CI = 1.29-4.69) and severe (RR = 3.11, 95% CI = 1.51-6.33) BPE. Severe BPE was associated with articular-sided partial-thickness tears of the supraspinatus tendon (RR = 14.32, 95% CI = 4.30-34.35), posterior recess effusion (RR, 7.98, 95% CI = 1.44-34.93) and biceps medial subluxation (RR = 7.25, 95% CI = 1.90-22.33). Our study indicates that BPE is related to various shoulder abnormalities and that the strengths of these associations depend on the severity of BPE. Clinicians encountering BPE should grade its severity and be alert for hidden lesions of

  13. Ultrasound Diagnosis and Staging in Pediatric Hidradenitis Suppurativa.

    PubMed

    Wortsman, Ximena; Rodriguez, Carolyn; Lobos, Carolina; Eguiguren, Gonzalo; Molina, Maria Teresa

    2016-07-01

    Hidradenitis suppurativa (HS) can affect children, and ultrasound has been proven to be useful in diagnosis and staging. The sonographic characteristics of HS in children have not been reported. We studied color Doppler ultrasound images of children (≤15 years old; n = 12) with clinically and sonographically positive criteria for HS. Sonographic scoring of hidradenitis suppurativa (SOS-HS) was used to stage the cases sonographically. Subclinical pseudocysts were found in 92% of the cases, fluid collections in 83%, and fistulous tracts in 58%. Retained hair tracts in the fluid collections and fistulous tracts were present in 100% of patients; 67% of cases were SOS-HS stage II. In 92% of cases, management was modified after the ultrasound examination. In conclusion, ultrasound can be a reliable and safe imaging tool to support diagnosis and staging and may help in the noninvasive monitoring of treatment in children. PMID:27292973

  14. Sonographer registration in the United Kingdom - a review of the current situation.

    PubMed

    Thomson, Nigel; Paterson, Audrey

    2014-02-01

    There is no statutory registration as a sonographer available in the United Kingdom (UK) and the titles of 'sonographer' and 'ultrasonographer' are not legally protected. The majority of sonographers are statutorily registered with the Health and Care Professions Council or Nursing and Midwifery Council as they have a professional background as a radiographer, clinical scientist, nurse, physiotherapist or midwife that allows this, but this registration is not as a sonographer. For otherwise well-qualified and experienced sonographers, statutory registration is impossible to achieve at the present time and they have no statutory regulatory home. This can lead to problems for the sonographers themselves, for the patients and public in terms of protection and for employers when selecting staff. This paper discusses the complex registration situation for sonographers in the UK and includes reference to the alternative voluntary registers and their possible accreditation by the Professional Standards Authority. PMID:27433193

  15. Sonographic training in rheumatology: a self teaching approach

    PubMed Central

    Filippucci, E; Unlu, Z; Farina, A; Grassi, W

    2003-01-01

    Methods: The novice was given short general training (two hours) by an experienced sonographer focusing on the approach to the ultrasound equipment, and asked to obtain the best sonographic images of different anatomical areas as similar as possible to the "gold standard" pictures in the online version of the guidelines for musculoskeletal ultrasonography in rheumatology (free access at http://www.sameint.it/eular/ultrasound). At the end of each scanning session, both novice and tutor scored "blindly" all the images from 0 (the lowest quality) to 10 (the highest quality), with a minimum quality score of 6 considered acceptable for standard clinical use. The tutor then explained how to improve the quality of the pictures. Fourteen consecutive inpatients (seven with rheumatoid arthritis, three with psoriatic arthritis, two with reactive arthritis, and two with osteoarthritis) and five healthy subjects were examined. Ultrasound examinations were performed with a Diasus (Dynamic Imaging Ltd, Livingston, Scotland, UK) using two broadband linear probes of 5–10 and 8–16 MHz frequency. Results: Sonographic training lasted one month and included 30 scanning sessions (24 hours of active scanning). 243 images were taken of the selected anatomical areas. The mean time required to produce each image was 6 minutes (SD 4.2; range 1–30). At the end of the training, the novice scored ⩾6 for each standard scan. Conclusion: A novice can obtain acceptable sonographic images in 24 non-consecutive hours of active scanning after an intensive self teaching programme. PMID:12759296

  16. Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care?

    PubMed Central

    Chandrasekharan, Subhashini; McGuire, Amy L.; Van den Veyver, Ignatia B.

    2015-01-01

    Thousands of patents have been awarded that claim human gene sequences and their uses, and some have been challenged in court. In a recent high-profile case, Association for Molecular Pathology, et al. vs. Myriad Genetics, Inc., et al., the United States Supreme Court ruled that genes are natural occurring substances and therefore not patentable through “composition of matter” claims. The consequences of this ruling will extend well beyond ending Myriad's monopoly over BRCA testing, and may affect similar monopolies of other commercial laboratories for tests involving other genes. It could also simplify intellectual property issues surrounding genome-wide clinical sequencing, which can generate results for genes covered by intellectual property. Non-invasive prenatal testing (NIPT) for common aneuploidies using cell-free fetal (cff) DNA in maternal blood is currently offered through commercial laboratories and is also the subject of ongoing patent litigation. The recent Supreme Court decision in the Myriad case has already been invoked by a lower district court in NIPT litigation and resulted in invalidation of primary claims in a patent on currently marketed cffDNA-based testing for chromosomal aneuploidies. PMID:24989832

  17. Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care?

    PubMed

    Chandrasekharan, Subhashini; McGuire, Amy L; Van den Veyver, Ignatia B

    2014-10-01

    Thousands of patents have been awarded that claim human gene sequences and their uses, and some have been challenged in court. In a recent high-profile case, Association for Molecular Pathology, et al. v. Myriad Genetics, Inc., et al., the US Supreme Court ruled that genes are natural occurring substances and therefore not patentable through 'composition of matter' claims. The consequences of this ruling will extend well beyond ending Myriad's monopoly over BRCA testing and may affect similar monopolies of other commercial laboratories for tests involving other genes. It could also simplify intellectual property issues surrounding genome-wide clinical sequencing, which can generate results for genes covered by intellectual property. Non-invasive prenatal testing (NIPT) for common aneuploidies using cell-free fetal (cff) DNA in maternal blood is currently offered through commercial laboratories and is also the subject of ongoing patent litigation. The recent Supreme Court decision in the Myriad case has already been invoked by a lower district court in NIPT litigation and resulted in invalidation of primary claims in a patent on currently marketed cffDNA-based testing for chromosomal aneuploidies.

  18. The California Prenatal Screening Program: "options and choices" not "coercion and eugenics".

    PubMed

    Flessel, Monica C; Lorey, Fred W

    2011-08-01

    The California Prenatal Screening Program is designed to make prenatal screening available to the state's large and diverse population. The Program provides information to women which will allow them to make informed choices regarding prenatal screening and prenatal diagnosis. Since the Program's inception in 1986, women in California have had the option to participate in prenatal screening or to decline prenatal screening. The California Program offers prenatal diagnostic services to women whose screening tests indicate an increased risk for birth defects, including Down syndrome. Women can decline any or all of these follow-up services. Genetic counseling, diagnostic services, and the presentation of diagnostic results are performed by medical professionals (not State staff) who follow established guidelines for nondirective counseling. Program data clearly demonstrate that women in California have a wide range of options and make a wide range of choices regarding prenatal screening and prenatal diagnosis. California's comprehensive Prenatal Screening Program promotes optimal care for all women within all options and choices. The important and necessary communication among organizations and stakeholders involved in prenatal screening and diagnosis, and in related care for pregnant women and for people with Down syndrome, is not served by misrepresentation and inflammatory rhetoric.

  19. Gallbladder wall thickness: sonographic accuracy and relation to disease.

    PubMed

    Engel, J M; Deitch, E A; Sikkema, W

    1980-05-01

    A prospective study was performed in two parts after sonographic determination of gallbladder wall thickness in 110 consecutive patients. The first part was designed to evaluate accuracy of sonographic measurements in 40 patients on whom intraoperative measurements of wall thickness were obtained. Second, the significance of wall thickness as an indicator of disease was explored by comparing the 40 surgical patients and 44 controls. Sonography was found to be accurate in determining wall thickness to within 1 mm in 93% of patients and 1.5 mm in 100%. Wall thickness greater than 3.5 mm is highly accurate in predicting disease; however, a wall thickness 3 mm or less does not rule out cholecystitis. PMID:6768264

  20. Pancreatic changes in cystic fibrosis: CT and sonographic appearances

    SciTech Connect

    Daneman, A.; Gaskin, K.; Martin, D.J.; Cutz, E.

    1983-10-01

    The computed tomographic (CT) and sonographic appearances of the late stages of pancreatic damage in three patients with cystic fibrosis are illustrated. All three had severe exocrine pancreatic insufficiency with steatorrhea. In two patients CT revealed complete fatty replacement of the entire pancreas. In the third, increased echogenicity of the pancreas on sonography and the inhomogeneous attenuation on CT were interpreted as being the result of a combination of fibrosis, fatty replacement, calcification, and probable cyst formation.

  1. Sonographic and cytopathologic correlation of papillary thyroid carcinoma variants.

    PubMed

    Lee, Ji Hyun; Shin, Jung Hee; Lee, Hyun-Woo; Oh, Young Lyun; Hahn, Soo Yeon; Ko, Eun Young

    2015-01-01

    Papillary thyroid carcinoma (PTC) is the most common thyroid cancer and constitutes more than 70% of thyroid malignancies. Although TNM staging is the most widely used parameter for determination of therapeutic plans, recent studies have suggested that different histopathologic variants of PTC can also have different clinical courses and patient prognoses. Sonographic criteria for PTC are well established and include a taller-than-wide shape, an irregular margin, microcalcifications, and marked hypoechogenicity. The role of sonography has expanded to enable the characterization of PTC variants based on their sonographic features. Tall cell and diffuse sclerosing variants appear to have more aggressive clinical courses with unfavorable prognoses, whereas the more recently described cribriform-morular and Warthin-like variants have relatively indolent clinical courses. The prognoses of patients with follicular, solid, columnar cell, and oncocytic variants are still controversial and may be similar to the prognosis of conventional PTC. Understanding the sonographic characteristics of PTC variants with clinicopathologic correlation may be helpful for suggesting an appropriate treatment plan.

  2. [Fetal ocular anomalies: the advantages of prenatal magnetic resonance imaging].

    PubMed

    Brémond-Gignac, D; Copin, H; Elmaleh, M; Milazzo, S

    2010-05-01

    Congenital ocular malformations are uncommon and require prenatal diagnosis. Severe anomalies are more often detected by trained teams and minor anomalies are more difficult to identify and must be systematically sought, particularly when multiple malformations or a family and maternal history is known. The prenatal diagnosis-imaging tool most commonly used is ultrasound but it can be completed by magnetic resonance imaging (MRI), which contributes crucial information. Fetal dysmorphism can occur in various types of dysfunction and prenatal diagnosis must recognize fetal ocular anomalies. After systematic morphologic ultrasound imaging, different abnormalities detected by MRI are studied. Classical parameters such as binocular and interorbital measurements are used to detect hypotelorism and hypertelorism. Prenatal ocular anomalies such as cataract microphthalmia, anophthalmia, and coloboma have been described. Fetal MRI added to prenatal sonography is essential in detecting cerebral and general anomalies and can give more information on the size and morphology of the eyeball. Fetal abnormality detection includes a detailed family and maternal history, an amniotic fluid sample for karyotype, and other analyses for a better understanding of the images. Each pregnancy must be discussed with all specialists for genetic counseling. With severe malformations, termination of pregnancy is proposed because of risk of blindness and associated cerebral or systemic anomalies. Early prenatal diagnosis of ocular malformations can also detect associated abnormalities, taking congenital cataracts that need surgical treatment into account as early as possible. Finally, various associated syndromes need a pediatric check-up that could lead to emergency treatment.

  3. Sonographic Elastography of the Thyroid Gland

    PubMed Central

    Menzilcioglu, Mehmet Sait; Duymus, Mahmut; Avcu, Serhat

    2016-01-01

    Summary Thyroid gland disorders include benign and malignant thyroid nodules and diffuse thyroid disorders. The incidence of malignant thyroid nodules is low and the prognosis is good. The diagnosis of thyroid cancer and diffuse parenchymal disorders is generally based on clinical manifestations and histopathological evaluation. Ultrasonography has its place in the diagnostics and follow-up of thyroid disorders. Ultrasonographic elastography is a new, developing method that shows increase in clinical practice. In this study, we aimed to review the data on thyroid ultrasound elastography. PMID:27103947

  4. Effects of Prenatal Care on Child Health at Age 5

    PubMed Central

    Noonan, Kelly; Corman, Hope; Schwartz-Soicher, Ofira; Reichman, Nancy E.

    2012-01-01

    Objectives The broad goal of contemporary prenatal care is to promote the health of the mother, child, and family through the pregnancy, delivery, and the child’s development. Although the vast majority of mothers giving birth in developed countries receive prenatal care, past research has not found compelling evidence that early or adequate prenatal care has favorable effects on birth outcomes. It is possible that prenatal care confers health benefits to the child that do not become apparent until after the perinatal period. Methods Using data from a national urban birth cohort study in the U.S., we estimate the effects of prenatal care on four markers of child health at age 5—maternal-reported health status, asthma diagnosis, overweight, and height. We implement a number of different strategies to address the issue of potential omitted variables bias as well as a large number of specification checks to validate the findings. Results and Conclusions Prenatal care, defined a number of different ways, does not appear to have any effect on the outcomes examined. The findings are robust and suggest that routine health care encounters during the prenatal period could potentially be used more effectively to enhance children’s health trajectories. However, future research is needed to explore the effects of prenatal care on additional child health and developmental outcomes as well as the effects of preconceptional and maternal lifetime helathcare on child health. PMID:22374319

  5. Terms, definitions and measurements to describe sonographic features of myometrium and uterine masses: a consensus opinion from the Morphological Uterus Sonographic Assessment (MUSA) group.

    PubMed

    Van den Bosch, T; Dueholm, M; Leone, F P G; Valentin, L; Rasmussen, C K; Votino, A; Van Schoubroeck, D; Landolfo, C; Installé, A J F; Guerriero, S; Exacoustos, C; Gordts, S; Benacerraf, B; D'Hooghe, T; De Moor, B; Brölmann, H; Goldstein, S; Epstein, E; Bourne, T; Timmerman, D

    2015-09-01

    The MUSA (Morphological Uterus Sonographic Assessment) statement is a consensus statement on terms, definitions and measurements that may be used to describe and report the sonographic features of the myometrium using gray-scale sonography, color/power Doppler and three-dimensional ultrasound imaging. The terms and definitions described may form the basis for prospective studies to predict the risk of different myometrial pathologies, based on their ultrasound appearance, and thus should be relevant for the clinician in daily practice and for clinical research. The sonographic features and use of terminology for describing the two most common myometrial lesions (fibroids and adenomyosis) and uterine smooth muscle tumors are presented.

  6. Sonographic Assessment of the Fetal Penile Development.

    PubMed

    Akpinar, Funda; Yilmaz, Saynur; Akdag Cirik, Derya; Kayikcioglu, Fulya; Dilbaz, Berna; Yucel, Husniye; Gelisen, Orhan

    2016-01-01

    The intrauterine diagnosis of micropenis is an important clue in the discernment of some syndromes and hormonal deficiencies. In this study, we tried to establish reference ranges for the fetal penile length and penile width. This prospective cross-sectional study included 179 healthy singleton male fetus pregnancies that were between 17 and 37 weeks of gestation. Of these pregnancies, the fetal penile length and width were measured using trans-abdominal ultrasound. The correlation coefficients of gestational age with penile measurements were calculated. We observed that as the gestational age increased both the penile length and width increased (p < .0001, correlation coefficients R(2) = 0.854 and R(2) = 0.883; respectively). Reference values of the penile length in the Turkish Population were similar to previously evaluated populations including English, American and Israeli populations. The penile width measurement is a convenient way to diagnose micropenis, but penile width measurement alone might miss some penile abnormalities including chordee and hypospadias.

  7. Invasive prenatal genetic testing: A Catholic healthcare provider's perspective

    PubMed Central

    Bringman, Jay J.

    2014-01-01

    Invasive prenatal testing is performed for a variety of reasons, but the most common indication is for genetic testing of the fetus. Although many times the information obtained from this type of testing results in selective termination of fetuses with genetic diagnoses, the information itself may be morally neutral. Should a Catholic healthcare provider be willing to perform invasive prenatal testing in the setting of uncertainty with respect to the patient's plans following a diagnosis of a genetic abnormality? PMID:25473130

  8. Awareness among Parents of β-Thalassemia Major Patients Regarding Prenatal Diagnosis and Premarital Screening in Day Care Centre of Transfusion Medicine Department.

    PubMed

    Rudra, S; Chakrabarty, P; Hossain, M A; Ripon, M J; Rudra, M; Mirza, T T

    2016-01-01

    Thalassemia is one of the most common genetic diseases in the world. It is a major health problem, brings much morbidity, early mortality and a great deal of misery for a family both financially and emotionally. The patients suffering from beta thalassemia major do not survive for more than 5 years without blood transfusion. Blood transfusion is usually administered every two to five weeks to maintain the pre-transfusion hemoglobin level of 9-10 gm/dL. This study carried out in the department of Transfusion Medicine of Mymensingh Medical College Hospital from January 2014 to June 2014. A total of 200 parents were interviewed. There was a slight preponderance of females which accounted for 57.5% of the parents. Ninety seven (45.5%) had an income less than Rs. 5000 per month. Nearly 50% were illiterate with only 24.5% with a higher education. Consanguinity was positive in 72.5% of the parents with extended family history of thalassemia positive in 40.8%. Only 29.5% were immunized against Hepatitis B. Around 27.5% did not know whether they should be immunized. Fifty five percent of parents knew children should receive Dysferol. Twelve percent were aware of consanguinity to be a risk factor for thalassaemia with only 5% having undergone antenatal diagnosis. Parental knowledge about thalassemia and its preventive measures is inadequate; this requires intervention in the form of public health education programs concentrating on high risk/targeted population.

  9. Prenatal Evaluation of MicroRNA Expressions in Pregnancies with Down Syndrome

    PubMed Central

    Erturk, Biray; Karaca, Emin; Guler, Ahmet; Buke, Baris; Yeniel, Ahmet Ozgur; Ozkinay, Ferda; Ozeren, Mehmet; Kazandi, Mert; Akercan, Fuat; Sagol, Sermet; Gunduz, Cumhur

    2016-01-01

    Background. Currently, the data available on the utility of miRNAs in noninvasive prenatal testing is insufficient in the literature. We evaluated the expression levels of 14 miRNAs located on chromosome 21 in maternal plasma and their utility in noninvasive prenatal testing of Down Syndrome. Method. A total of 56 patients underwent invasive prenatal testing; 23 cases were carrying Down Syndrome affected fetuses, and 33 control cases carrying unaffected, normal karyotype fetuses were included for comparison. Indications for invasive prenatal testing were advanced maternal age, increased risk of Down Syndrome in screening tests, and abnormal finding in the sonographic examination. In both the study and control groups, all the pregnant women were at 17th and 18th week of gestation. miRNA expression levels were measured using real-time RT-PCR. Results. Significantly increased maternal plasma levels of miR-3156 and miR-99a were found in the women carrying a fetus with Down Syndrome. Conclusion. Our results provide a basis for multicenter studies with larger sample groups and microRNA profiles, particularly with the microRNAs which were found to be variably expressed in our study. Through this clinical research, the utility of microRNAs in noninvasive prenatal testing can be better explored in future studies. PMID:27110565

  10. The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate

    PubMed Central

    Han, Hyun Ho; Choi, Eun Jeong; Kim, Ji Min; Shin, Jong Chul

    2016-01-01

    Background The prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P) and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center. Methods The multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation. Results The abortion rate was 28% (3/11). The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91%) reported that they were satisfied with the multidisciplinary management in our center. Conclusions Although a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy. PMID:27019808

  11. The student's dilemma, liver edition: incorporating the sonographer's language into clinical anatomy education.

    PubMed

    Hall, M Kennedy; Mirjalili, S Ali; Moore, Christopher L; Rizzolo, Lawrence J

    2015-01-01

    Anatomy students are often confused by multiple names ascribed to the same structure by different clinical disciplines. Increasingly, sonography is being incorporated into clinical anatomical education, but ultrasound textbooks often use names unfamiliar to the anatomist. Confusion is worsened when ultrasound names ascribed to the same structure actually refer to different structures. Consider the sonographic main lobar fissure (MLF). The sonographic MLF is a hyper-echoic landmark used by sonographers of the right upper quadrant. Found in approximately 70% of people, there is little consensus on what the sonographic MLF is anatomically. This structure appears to be related to the main portal fissure (aka principal plane of the liver or principal hepatic fissure), initially described by anatomists and surgeons as in intrahepatic division along the middle hepatic vein which in essence divides the territories of the left and right hepatic arteries and biliary systems. By exploring the relationship between the main portal fissure and the sonographic MLF in cadaveric livers ex vivo, the data suggest the sonographic MLF is actually an extrahepatic structure that parallels the rim of the main portal fissure. The authors recommend that this structure be renamed the "sonographic cystic pedicle," which includes the cystic duct and ensheathing fat and blood vessels. In the context of the redefined underlying anatomy, the absence of the sonographic cystic pedicle due to anatomic variation may serve an important clinical role in predicting complications from difficult laparoscopic cholecystectomies and is deserving of future study.

  12. Sonographers' Complex Communication during the Obstetric Sonogram Exam: An Interview Study

    ERIC Educational Resources Information Center

    Brasseur, Lee

    2012-01-01

    A study of the oral communication experiences and training of obstetric sonographers can provide insight into the complex expectations these medical professionals face as they complete their technical tasks and communicate with patients. Unlike other diagnostic medical professionals, obstetric sonographers are expected to provide detailed…

  13. Ambiguous genitalia: what prenatal genetic testing is practical?

    PubMed

    Adam, Margaret P; Fechner, Patricia Y; Ramsdell, Linda A; Badaru, Angela; Grady, Richard E; Pagon, Roberta A; McCauley, Elizabeth; Cheng, Edith Y; Parisi, Melissa A; Shnorhavorian, Margarett

    2012-06-01

    Concern for ambiguous genitalia or chromosome-phenotype discordance detected in a prenatal setting has increased over the last two decades. Practitioners faced with this prenatal finding have a variety of genetic tests available to them; however, it is unclear to what extent prenatal testing for disorders of sex development (DSD) is useful or practical. We undertook a retrospective review of the medical records of 140 individuals evaluated through the DSD clinic at Seattle Children's Hospital with birthdates from 01/01/1994 through 08/16/2011 to determine the rate of prenatal detection of ambiguous genitalia in individuals with DSD, what prenatal diagnostic workup was undertaken, and the postnatal outcome, including whether a postnatal genetic diagnosis was confirmed. Of all 140 subjects, 34 (24%) were identified prenatally. The most common postnatal diagnoses were penoscrotal hypospadias with transposition of the scrotum with no known genetic cause (24/140; 17%) and 21-hydroxylase deficiency (20/140; 14%). Apart from these, no single diagnosis comprised more than a few cases. Prenatal diagnostic testing varied widely, from no tests to multiple molecular tests with amniotic fluid hormone concentrations. In the absence of other fetal anomalies or growth retardation on ultrasound, prenatal karyotype with fluorescence in situ hybridization for the SRY gene is the most useful test when ambiguous genitalia is suspected. Further prenatal testing for Smith-Lemli-Opitz syndrome in 46,XY individuals and congenital adrenal hyperplasia in 46,XX individuals may be considered. However, targeted molecular testing for rare DSD conditions in the absence of a family history of DSD has a low yield.

  14. Sonographic assessment of renal length in children: a reappraisal.

    PubMed

    Zerin, J M; Blane, C E

    1994-01-01

    Ultrasonography (US) has largely replaced the intravenous urogram as the first modality for the evaluation of the kidneys in children suspected of having urinary tract abnormalities. Because many renal disorders are associated with changes in the sizes of the kidneys, normative standards for assessing renal size have been developed. These standards rely upon comparison of the renal lengths or calculated volumes or both, with various assessments of overall body size, including body surface area, weight, height, and chronological age. We discuss some of the limitations of US in assessing renal size in children. Practical recommendations are offered for optimizing the measurement and interpretation of sonographic renal sizes in children.

  15. Sonographically guided cryoneurolysis: preliminary experience and clinical outcomes.

    PubMed

    Friedman, Talia; Richman, Daniel; Adler, Ronald

    2012-12-01

    Chronic peripheral nerve pain is a common problem that can arise from numerous causes, for which neurolysis is a therapeutic option. It is postulated that cryotherapy will have less adverse events than other methods of nerve ablation. A retrospective case series review was performed in patients who had undergone sonographically guided cryoneurolysis for Morton neuromas, postsurgical and posttraumatic neuromas, and idiopathic neuralgia. Fifteen of 20 patients had a positive response to cryoneurolysis, as did 2 of 4 patients with borderline symptoms for chronic regional pain syndrome. In view of our positive results, we believe that cryoneurolysis should be considered a reasonable option in performing neurolytic therapy.

  16. Utility of urine cytology in evaluating hematuria with sonographically suspected bladder lesion in patients older than 50 years

    PubMed Central

    Mady, Hussam Eldin Helmy; Omar, Abd Alhady Mohammad; Elgammal, Mohamed Abd-Alla; Ibrahim, Ghada Hosny Mohamed

    2014-01-01

    Purpose: Investigate the utility of urine cytology (UC) in patients older than 50 years with hematuria and sonographically suspected bladder lesion. Patients and Methods: Between April 2010 and June 2012, 152 patients above 50 years suffering from hematuria were included in this study. In all patients, ultrasound revealed a lesion suspected to be bladder cancer. Voided urine specimens were taken from all patients and transported to Pathology laboratory and processed within 1-3 h. All patients have undergone a cystoscopy examination and biopsy was taken from any suspicious lesion. The cytological diagnosis was reported as one of three categories, positive or negative or suspicious for malignancy. Results: One hundred thirty three (87.5%) patients in this study proved to have bladder carcinoma in histopathological examination. The sensitivity of UC was 53.4% and only five patients were suspicious. Percentage of positive cytology was highest among patients having gross hematuria (51.3%), posterior wall lesions (75%), papillonodular configuration (81.8%), invasive cancer (59.1%) and bilharzial affection (52.5%). Conclusion: Hematuria in patients older than 50 years with sonographically suspected bladder lesion mandates cystoscopy and biopsy. UC does not add more significant information in this group of patients. PMID:25125893

  17. Intravesical oxybutinin chloride in children with intermittent catheterization: sonographic findings.

    PubMed

    Zerin, J M; DiPietro, M A; Ritchey, M L; Bloom, D A

    1994-01-01

    The sonographic findings in the bladder are presented in four children with myelomeningocele and neurogenic dysfunction of the bladder, who were treated with intermittent self-catheterization and intravesical oxybutinin chloride. All were referred for routine sonography of the urinary tract. Each had infused a crushed tablet of oxybutinin chloride intravesically 30-120 min before the examination. In two children, brightly echogenic, non-shadowing particles were suspended in the bladder urine. In one of these, the particles swirled giving the impression of a "snowstorm"; in the other, most of the particles gradually settled forming an irregular clump on the bladder base. In the remaining two children, the urine appeared diffusely hazy with innumerable tiny particles giving the impression of a fine mist filling the bladder. The sonographic appearance of the urine in the bladder after intravesical instillation of crushed tablets can be dramatic and can simulate pus, blood, fungus, or other debris in the bladder lumen. In the absence of clinical symptoms or hematuria, a history of recent infusion of medication into the bladder should be sought. PMID:7824373

  18. Intravesical oxybutinin chloride in children with intermittent catheterization: sonographic findings.

    PubMed

    Zerin, J M; DiPietro, M A; Ritchey, M L; Bloom, D A

    1994-01-01

    The sonographic findings in the bladder are presented in four children with myelomeningocele and neurogenic dysfunction of the bladder, who were treated with intermittent self-catheterization and intravesical oxybutinin chloride. All were referred for routine sonography of the urinary tract. Each had infused a crushed tablet of oxybutinin chloride intravesically 30-120 min before the examination. In two children, brightly echogenic, non-shadowing particles were suspended in the bladder urine. In one of these, the particles swirled giving the impression of a "snowstorm"; in the other, most of the particles gradually settled forming an irregular clump on the bladder base. In the remaining two children, the urine appeared diffusely hazy with innumerable tiny particles giving the impression of a fine mist filling the bladder. The sonographic appearance of the urine in the bladder after intravesical instillation of crushed tablets can be dramatic and can simulate pus, blood, fungus, or other debris in the bladder lumen. In the absence of clinical symptoms or hematuria, a history of recent infusion of medication into the bladder should be sought.

  19. Testicular epidermoid cysts: sonographic features with histopathologic correlation.

    PubMed

    Dogra, V S; Gottlieb, R H; Rubens, D J; Oka, M; Di Sant Agnese, A P

    2001-01-01

    Testicular epidermoid cysts are rare, accounting for 1% of all testicular tumors. We present the sonographic appearances of epidermoid cysts in 3 cases, together with the histopathologic correlation. In case 1, sonography showed an intratesticular hypoechoic mass with a well-defined echogenic rim; the mass measured 1.8 x 1.5 x 1.5 cm, and there was no evidence of calcification. In case 2, sonography showed a well-circumscribed mass measuring 1.3 x 1.3 x 1.0 cm, with alternating hypoechoic and hyperechoic rings (onion-ring appearance) and no calcifications. In case 3, sonography showed a 2.4- x 2.3- x 2.3-cm, well-circumscribed, oval mass with a heterogeneous echotexture and an outer hypoechoic halo. The mass contained plaque-like regions of increased echogenicity, with peripheral acoustic shadowing from refraction artifact. Hypoechoic clefts were visualized posterior to the plaque-like areas. The triad of findings-sonographic appearance of an onion ring, avascularity on Doppler sonography, and negative results of tumor marker studies-is highly suggestive of an epidermoid cyst. PMID:11329161

  20. Prenatal Influences on the Brain.

    ERIC Educational Resources Information Center

    Eliot, Lise

    2002-01-01

    Gives an overview of embryology and prenatal brain, sensory, and motor development. Includes discussion of maternal nutrition, chemical exposure, prenatal drug and alcohol hazards, cigarette smoking, and some causes of neural tube defects and premature birth. (Author/KB)

  1. Prenatal Genetic Counseling (For Parents)

    MedlinePlus

    ... 5 Things to Know About Zika & Pregnancy Prenatal Genetic Counseling KidsHealth > For Parents > Prenatal Genetic Counseling Print ... how can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating ...

  2. Your First Prenatal Care Checkup

    MedlinePlus

    ... Prenatal Providers project include HRSA, March of Dimes Foundation, National Coalition for Health Professional Education in Genetics, Genetic ... Prenatal Providers project include HRSA, March of Dimes Foundation, National Coalition for Health Professional Education in Genetics, Genetic ...

  3. Educating the future sonographic workforce: membership survey report from the British Medical Ultrasound Society.

    PubMed

    Parker, P C; Harrison, G

    2015-11-01

    The British Medical Ultrasound Society (BMUS), the Consortium for the Accreditation of Sonographic Education (CASE), education providers and the NHS are working together to review how best to develop education for the future sonographic workforce. There is currently a national vacancy rate of approximately 12% across NHS Trusts. Education course placements are often limited to the number of clinical training places available within departments, resulting in a disparity between vacancies and the numbers of qualified sonographers graduating. Clearly there is a need for education to match the service demand. A term often used as a solution to the workforce problem is 'direct entry' ultrasound education. Anecdotally this term has caused confusion amongst health care professionals and as such the aim of this work was to gain an understanding of the views and opinions of BMUS members and interested professionals about direct entry training and subsequent development of any future training programmes. BMUS undertook an online survey with 286 responses. The survey provided insight into the opinions of ultrasound practitioners and the complexities of developing a relevant educational programme for the future sonographer workforce. The results suggested a number of concerns with direct entry ultrasound programmes, including insufficient training places, lack of health care background knowledge, lack of imaging knowledge and no state registration specific to sonographers. Benefits of direct entry to ultrasound training were perceived to be increasing the number of sonographers trained each year, whilst training people in their first choice profession with skills developed specific to the sonographer role. Support for direct entry ultrasound training was limited to 51% of respondents who would advocate this form of ultrasound training if it led to qualified sonographers with the same skills as sonographers exiting from current CASE accredited programmes.

  4. Educating the future sonographic workforce: membership survey report from the British Medical Ultrasound Society.

    PubMed

    Parker, P C; Harrison, G

    2015-11-01

    The British Medical Ultrasound Society (BMUS), the Consortium for the Accreditation of Sonographic Education (CASE), education providers and the NHS are working together to review how best to develop education for the future sonographic workforce. There is currently a national vacancy rate of approximately 12% across NHS Trusts. Education course placements are often limited to the number of clinical training places available within departments, resulting in a disparity between vacancies and the numbers of qualified sonographers graduating. Clearly there is a need for education to match the service demand. A term often used as a solution to the workforce problem is 'direct entry' ultrasound education. Anecdotally this term has caused confusion amongst health care professionals and as such the aim of this work was to gain an understanding of the views and opinions of BMUS members and interested professionals about direct entry training and subsequent development of any future training programmes. BMUS undertook an online survey with 286 responses. The survey provided insight into the opinions of ultrasound practitioners and the complexities of developing a relevant educational programme for the future sonographer workforce. The results suggested a number of concerns with direct entry ultrasound programmes, including insufficient training places, lack of health care background knowledge, lack of imaging knowledge and no state registration specific to sonographers. Benefits of direct entry to ultrasound training were perceived to be increasing the number of sonographers trained each year, whilst training people in their first choice profession with skills developed specific to the sonographer role. Support for direct entry ultrasound training was limited to 51% of respondents who would advocate this form of ultrasound training if it led to qualified sonographers with the same skills as sonographers exiting from current CASE accredited programmes. PMID:27433263

  5. Neonatal magnetic resonance imaging in double aortic arch diagnosed prenatally by ultrasound.

    PubMed

    Trobo Marina, Duna; Bravo, Coral; Lancharro, Ángel; Gámez Alderete, Francisco; Marín, Carlos; de León-Luis, Juan

    2016-05-01

    Congenital double aortic arch (DAA) is an uncommon vascular anomaly; however, its prenatal detection is associated with congenital heart defects and chromosomal abnormalities, including 22q11 deletion. We present a case of DAA diagnosed prenatally. DAA can be diagnosed by prenatal ultrasound in the transverse three vessel-trachea view, which shows a trident image formed by a complete vascular ring and the ductus arteriosus. Postnatal magnetic resonance images in this view correlate well with prenatal ultrasound images and help in confirmation of diagnosis, evaluation of the risk of airway or esophageal compression, and planning of surgery. PMID:26979672

  6. Sonographic appearance of angioedema in local allergic reactions to insect bites and stings.

    PubMed

    Tay, Ee Tein; Tsung, James W

    2014-09-01

    Soft tissue infections and angioedema from insect bites and stings may be difficult to differentiate by inspection. We present sonographic findings of 4 cases of soft tissue swelling from insect bites and stings suggestive of angioedema. Sonographic features of soft tissue angioedema consist of thickened subcutaneous tissue layers with multiple linear, horizontal, striated, and hypoechoic lines following the tissue planes between soft tissue layers. In addition to the history and physical examination, sonographic findings may assist in differentiating between local allergic reactions and cellulitis in patients with insect bites and stings. Further study is warranted for clinical application.

  7. [Congenital prenatal hemangioma: diagnosis and treatment].

    PubMed

    Bourdelat, D; Melki, E; Mazzola, C; Marreel, A

    2010-04-01

    An echogenic tumor (22 x 22 mm) isolated from the anterior part of the left leg at 27 WA of pregnancy suggested an angiomatous structure. This mass appeared to be well vascularized on Doppler examination. Three-dimensional imaging showed connections with adjacent tissues. The limbs were mobile. Delivery of a 3990-g-boy occurred normally. On the anterior part of the left leg, there was a plate-shaped mass with a pink hole at the superior part. Excision under general anesthesia was performed at the first month because of the risk of rupture and bleeding. The dissection was easy with the deep plane. Healing was complete 10 days after the surgical procedure and the aesthetic aspect was good 1 year later. Histological findings of the suspect mass emphasize the vascular aspect of the tumor. A hemangioma capillary with venous structures in the dermal hypodermic area was found.

  8. Cystic Fibrosis: Prenatal Screening and Diagnosis

    MedlinePlus

    ... tested for CF carrier status) Using in vitro fertilization with your own sperm and eggs, and then ... testing that can be done during in vitro fertilization. Tests are performed on the fertilized egg before ...

  9. Correlation Between Sonographic and In Vivo Measurement of A1 Pulleys in Trigger Fingers.

    PubMed

    Spirig, Andres; Juon, Bettina; Banz, Yara; Rieben, Robert; Vögelin, Esther

    2016-07-01

    The thickness of 210 A1 pulleys of 21 male and female healthy volunteers in two different age groups (20-35 y and 50-70 y) were measured by ultrasound. In a second group, the thickness of 15 diseased A1 pulleys and 15 A1 pulleys of the corresponding other hand of 10 patients with the clinical diagnosis of trigger finger were measured by ultrasound. During open trigger finger release, a strip of A1 pulley was excised and immediately measured using an electronic caliper. The average pulley thickness of healthy volunteers was 0.43-0.47 mm, compared to 0.77-0.79 mm in patients with trigger finger. Based on the receiver operating characteristic (ROC) curve, a diagnostic cut-off value of the pulley thickness at 0.62 mm was defined in order to differ a trigger finger from a healthy finger (sensitivity and specificity of 85%). The correlation between sonographic and effective intra-operative measurements of pulley thickness was linear and very strong (Pearson coefficient 0.86-0.90). In order to distinguish between healthy and diseased A1 pulleys, 0.62 mm is a simple value to use, which can be applied regardless of age, sex, body mass index (BMI) and height in adults. PMID:27126241

  10. Axillary lymph nodes in breast cancer patients: sonographic evaluation.

    PubMed

    Pinheiro, Denise Joffily Pereira da Costa; Elias, Simone; Nazário, Afonso Celso Pinto

    2014-01-01

    Axillary staging of patients with early-stage breast cancer is essential in the treatment planning. Currently such staging is intraoperatively performed, but there is a tendency to seek a preoperative and less invasive technique to detect lymph node metastasis. Ultrasonography is widely utilized for this purpose, many times in association with fine-needle aspiration biopsy or core needle biopsy. However, the sonographic criteria for determining malignancy in axillary lymph nodes do not present significant predictive values, producing discrepant results in studies evaluating the sensitivity and specificity of this method. The present study was aimed at reviewing the literature approaching the utilization of ultrasonography in the axillary staging as well as the main morphological features of metastatic lymph nodes.

  11. Axillary lymph nodes in breast cancer patients: sonographic evaluation*

    PubMed Central

    Pinheiro, Denise Joffily Pereira da Costa; Elias, Simone; Nazário, Afonso Celso Pinto

    2014-01-01

    Axillary staging of patients with early-stage breast cancer is essential in the treatment planning. Currently such staging is intraoperatively performed, but there is a tendency to seek a preoperative and less invasive technique to detect lymph node metastasis. Ultrasonography is widely utilized for this purpose, many times in association with fine-needle aspiration biopsy or core needle biopsy. However, the sonographic criteria for determining malignancy in axillary lymph nodes do not present significant predictive values, producing discrepant results in studies evaluating the sensitivity and specificity of this method. The present study was aimed at reviewing the literature approaching the utilization of ultrasonography in the axillary staging as well as the main morphological features of metastatic lymph nodes. PMID:25741091

  12. Segmental testicular infarction: sonographic findings and pathologic correlation.

    PubMed

    Aquino, Michael; Nghiem, Hanh; Jafri, Syed Zafar; Schwartz, John; Malhotra, Rajwant; Amin, Mitual

    2013-02-01

    Segmental testicular infarction can mimic testicular carcinoma on sonography and can lead to unnecessary orchiectomy. This case series describes and correlates sonographic and histologic findings of 7 pathologically proven segmental testicular infarction cases. Segmental testicular infarction should be suspected on sonography when a geographic lesion with low or mixed echogenicity has absent or near-absent flow in a patient with scrotal pain. A hyperechoic rim and peripheral hyperemia correspond to interstitial hemorrhage and inflammatory changes. As an infarct evolves, it becomes more discrete and hypoechoic as ghost outlines replace seminiferous tubules. Follow-up or contrast-enhanced magnetic resonance imaging or sonography can increase diagnostic confidence in suspected cases and prevent unnecessary orchiectomy.

  13. Segmental testicular infarction: sonographic findings and pathologic correlation.

    PubMed

    Aquino, Michael; Nghiem, Hanh; Jafri, Syed Zafar; Schwartz, John; Malhotra, Rajwant; Amin, Mitual

    2013-02-01

    Segmental testicular infarction can mimic testicular carcinoma on sonography and can lead to unnecessary orchiectomy. This case series describes and correlates sonographic and histologic findings of 7 pathologically proven segmental testicular infarction cases. Segmental testicular infarction should be suspected on sonography when a geographic lesion with low or mixed echogenicity has absent or near-absent flow in a patient with scrotal pain. A hyperechoic rim and peripheral hyperemia correspond to interstitial hemorrhage and inflammatory changes. As an infarct evolves, it becomes more discrete and hypoechoic as ghost outlines replace seminiferous tubules. Follow-up or contrast-enhanced magnetic resonance imaging or sonography can increase diagnostic confidence in suspected cases and prevent unnecessary orchiectomy. PMID:23341396

  14. Religious Traditions and Prenatal Genetic Counseling

    PubMed Central

    Anderson, Rebecca Rae

    2009-01-01

    Members of organized religious groups may look to their faith traditions for guidance regarding the moral implications of prenatal diagnosis and intervention. Many denominations have doctrinal statements relevant to these deliberations. In this paper, common spiritual issues arising in the genetic counseling encounter are described. Representative doctrinal positions, derived from the responses of 31 U.S. religious denominations to a survey relating to prenatal genetic counseling, are given. Because the long-term adjustment of patients may be dependent in part on their ability to reconcile their actions with their faith traditions, genetic counselors best serve their patients when they invite discussion of matters of faith. Unless invited, patients may assume these topics are ‘off limits’ or that care providers are indifferent to their beliefs. Although genetics professionals ought not assume the role of spiritual advisor, a working knowledge of doctrinal approaches should help counselors frame the issues, and avoid missteps. PMID:19170093

  15. Benign prenatal hypophosphatasia: a treatable disease not to be missed.

    PubMed

    Matsushita, Masaki; Kitoh, Hiroshi; Michigami, Toshimi; Tachikawa, Kanako; Ishiguro, Naoki

    2014-03-01

    Prenatal bowing of the long bones is often associated with severe bone dysplasias. We report a child who presented marked bowing of the long bones at birth but showed a relatively benign postnatal course with spontaneous improvement of bowing. The fetal imaging showed normal skeletal mineralization and normal chest and abdominal circumferences despite the limb bowing and shortening. Decreased serum alkaline phosphatase activity and elevated urine phosphoethanolamine was biochemically evident, and compound heterozygous mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene were identified, which confirmed the diagnosis of a benign form of prenatal hypophosphatasia. Benign prenatal hypophosphatasia should be considered in the differential diagnosis of congenital bowing of the long bones. PMID:24145968

  16. Prenatal Care Training.

    ERIC Educational Resources Information Center

    Hagen, Michael

    Described is the development and evaluation of a prenatal instructional program designed to prevent birth defects. It is explained that the program, composed of five slide tape units on such topics as nutrition and environmental factors, was field tested and found effective with 97 participants (pregnant high school students, nursing students, and…

  17. The role of prenatal ultrasound assessment in management of fetal cervicofacial tumors

    PubMed Central

    Respondek-Liberska, Maria

    2016-01-01

    Ultrasound prenatal examination enables one to assess the facial skeleton and the neck from the first weeks of gestation. Cervicofacial tumors detected via prenatal ultrasound are very rarely reported fetal pathologies. They include cystic hygromas, teratomas, epulides, vascular tumors, and thyroid tumors. The tumor category, its location and vascularization pattern allow one to accurately establish a diagnosis which is usually confirmed by clinical examination of the neonate or a pathological examination (surgical specimen, biopsy, autopsy). The prenatal ultrasound diagnosis of cervicofacial tumor in the fetus allows planning of pregnancy management and fetal therapy, preparation of the delivery, and perinatal as well as neonatal treatment. PMID:27478467

  18. The Prenatal Care at School Program

    ERIC Educational Resources Information Center

    Griswold, Carol H.; Nasso, Jacqueline T.; Swider, Susan; Ellison, Brenda R.; Griswold, Daniel L.; Brooks, Marilyn

    2013-01-01

    School absenteeism and poor compliance with prenatal appointments are concerns for pregnant teens. The Prenatal Care at School (PAS) program is a new model of prenatal care involving local health care providers and school personnel to reduce the need for students to leave school for prenatal care. The program combines prenatal care and education…

  19. Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

    PubMed

    Tokita, Mari J; Sybert, Virginia P

    2016-05-01

    High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty-five patients with prenatally diagnosed 45,X/46,XX mosaicism were collected by retrospective chart review and, when possible, semi-structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X/46,XX mosaicism.

  20. [Prenatal care in Latin America].

    PubMed

    Buekens, P; Hernández, P; Infante, C

    1990-01-01

    Available data on the coverage of prenatal care in Latin America were reviewed. In recent years, only Bolivia had a coverage of prenatal care of less than 50 per cent. More than 90 per cent of pregnant women received prenatal care in Chile, Cuba, the Dominican Republic, and Puerto Rico. Prenatal care increased between the 1970 and 1980 in the Dominican Republic, Ecuador, Guatemala, Honduras, Mexico, and Peru. The coverage of prenatal care decreased in Bolivia and Colombia. The mean number of visits increased in Cuba and Puerto Rico. The increase of prenatal care in Guatemala and Honduras is due to increased care by traditional birth attendants, compared to the role of health care institutions. We compared the more recent data on tetanus immunization of pregnant women to the more recent data on prenatal care. The rates of tetanus immunization are always lower than the rates of prenatal care attendance, except in Costa Rica. The rates of tetanus immunization was less than half as compared to the rates of prenatal care in Bolivia, Guatemala, and Peru. To improve the content of prenatal care should be an objective complementary to the increase of the number of attending women.

  1. Methylation at the PW71 locus on chromosome 15 in DNA derived from CVS and from amniocytes; implications for the use of the PW71 probe in prenatal diagnosis of the Prader-Willi and Angleman syndromes

    SciTech Connect

    Telleria, P.; Yu, C.C.; Brown, S.

    1994-09-01

    The probe PW71 spans a HpaII site in the Prader-Willi/Angleman Syndrome critical region on chromosome 15. A single Southern blot with this probe can be used to detect deletion and uniparental disomy. We attempted to determine the methylation state of the PW71 locus in DNA derived from prenatal sources. Southern blots of HindIII and HindIII/HpaII double digests of DNA from cultured amniocytes and CVS specimens were prepared and probed with the PW71 probe. The results from 6 cultured CVS specimens indicate that several HPAII sites recognized by the PW71 probe are not methylated in trophoblast. Four amniotic fluid cultures gave results which were not different from lymphocyte-derived DNA; however, in several cases, amniotic fluid cultures resulted in Southern blots identical to those from CVS. Since we did not have verified prenatal cases of chromosome 15 uniparental disomy, we were unable to determine whether the parent-of-origin specific methylation present in lymphocyte DNA is also present in amniocyte DNA. We conclude that prenatal determination of chromosome 15 uniparental disomy with this probe will be unreliable.

  2. Prenatal Surgery: Helping Babies Before Birth

    MedlinePlus

    ... About Zika & Pregnancy Prenatal Surgery: Helping Babies Before Birth KidsHealth > For Parents > Prenatal Surgery: Helping Babies Before ... A Text Size Prenatal Surgery: Helping Babies Before Birth Operating on a baby before birth may seem ...

  3. Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation.

    PubMed

    Pittyanont, Sirida; Jatavan, Phudit; Suwansirikul, Songkiat; Tongsong, Theera

    2016-09-01

    A fetal sonographic screening examination performed at 23 weeks showed polyhydramnios, micrognathia, fixed postures of all long bones, but no movement and no breathing. The fetus showed fetal heart rate acceleration but no movement when acoustic stimulation was applied with artificial larynx. All these findings persisted on serial examinations. The neonate was stillborn at 37 weeks and a final diagnosis of Pena-Shokeir sequence was made. In addition to typical sonographic features of Pena-Shokeir sequence, fetal heart rate accelerations with no movement in response to acoustic stimulation suggests that peripheral myopathy may possibly play an important role in the pathogenesis of the disease. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:459-462, 2016. PMID:27312123

  4. Significance of Sonographically Demonstrated Ureteral Dilatation in Evaluation of Vesicoureteral Reflux Verified with Voiding Urosonography in Children with Urinary Tract Infection

    PubMed Central

    Carovac, Aladin; Zubovic, Sandra Vegar; Carovac, Marklena; Pasic, Irmina Sefic

    2015-01-01

    Objectives: The aim of this study was to determine sensitivity, specificity, and predictive values of sonographically demonstrated ureteral dilatation in detecting vesicoureteral reflux (VUR). Methods: Ethical approval from the Ethical Committee of Clinical Center University of Sarajevo and parental consent were obtained for this prospective study involving 120 children with history of urinary tract infections (UTIs). Ultrasound examination included the evaluation of the urinary tract, with a special emphasis on evaluation of ureteral dilatation. Voiding urosonography (VUS) was carried out according to a standard protocol with the use of ultrasound contrast agent Sono Vue of second generation. Ureteral diameter greater than 3 mm was considered pathological. Proven VUR was graded into one of three stages. Results: Infectio tracti urinarii recidivans was referral diagnosis in the majority of patients. The average age of patients was 4.33 ± 3.88 years (from 2 months to 16 years of age). VUS findings were normal in 59 (49.2%), and pathological in 61 (50.8%) patients. Statistical analysis showed significant correlation between type and grade of VUR. Our data confirmed predominance of VUR in females and in children under the age of 5. Statistically significant correlation between ureteral dilatation and the existence of VUR was found, with relatively high sensitivity (67.2%), specificity (81.4%), and high positive (78.8%) and negative predictive value (70.6%), total diagnostic accuracy of 74.2% in detecting VUR, and significantly increased probability (20 – 25%) of detecting VUR in patients with sonographically confirmed ureteral dilatation. Conclusion: Sonographically confirmed ureteral dilatation can be used as a predictor of VUR in children with UTIs, and in combination with other predictors, might find a place in an evidence-based selective strategy in children with suspected VUR. PMID:26635432

  5. Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings.

    PubMed

    Froster, U G; Horn, L C; Holland, H; Strenge, S; Faber, R

    2000-12-01

    A case of partial deletion of the distal parts of chromosomes 15 and 18 [(15)(q26.1)(18)(q21.3)] due to a de novo translocation is reported. Cordocentesis and fetal karyotyping was done because of severe oligohydramnios and bilateral absence of kidneys. Renal defects are a frequent finding in fetuses with different chromosomal anomalies; this particular chromosomal rearrangement however has not been reported yet in a fetus with bilateral renal agenesis. FISH was performed for detailed clarification of the chromosomal anomaly. Prenatal karyotyping appears to be important in fetuses with renal agenesis. PMID:11113912

  6. Dependence of Thyroid Sonographic Markers of Malignancy and Its Influence on the Diagnostic Value of Sonographic Findings

    PubMed Central

    Woliński, Kosma; Stangierski, Adam; Szczepanek-Parulska, Ewelina; Gurgul, Edyta; Ruchała, Marek

    2015-01-01

    Introduction. Thyroid nodules constitute frequent medical condition. Ultrasonographic (US) examination remains the basis in the diagnostics of nodular goiter and selection of the suspected ones requiring fine-needle aspiration biopsy (FNAB). The aim of this study was to evaluate if the features so far considered to be US malignancy markers are dependent or independent variables and to check if these data are clinically relevant. Materials and Methods. Patients with diagnosed thyroid nodular goiter admitted for thyroidectomy, irrespectively of the indications for surgery, were involved. The following parameters were assessed: echogenicity, the presence of calcifications, presence of halo, shape, margins, structure (solid, partially or pure cystic), and elasticity of the nodules (assessed quantitatively). Results. 122 consecutive patients with 393 thyroid nodules were included. There were significant associations between halo absence and irregular borders, micro- and macrocalcifications, taller-than-wide feature and macrocalcifications, irregular margins and macrocalcifications, and also decreased elasticity of nodules and several attributes (partially cystic character, micro- and macrocalcifications). Conclusions. Not only diagnostic value of particular sonographic features but also data about cooccurrence and associations between them are clinically relevant. Although most of these features turned out to be independent, omitting significant association can lead to incorrect assessment of the risk of malignancy. PMID:25688363

  7. Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases.

    PubMed

    Dundar, Munis; Uzak, Asli Subasioglu; Erdogan, Murat; Akbarova, Yagut

    2011-06-01

    Genetic testing usually helps physicians to determine possible genetic diseases in unborn babies, genetic disorders of patients and the carriers who might pass the mutant gene on to their children. They are performed on blood, tissues or other body fluids. In recent years, the screening tests and diagnostic tests have improved quickly and, as a result, the risks of pregnancy can be determined more commonly and physicians can diagnose several genetic disorders in the prenatal period. Detecting the abnormalities in utero enables correct management of the pregnancy, prenatal and postnatal medical care, and it is also important for making well informed decisions about continuing or terminating a pregnancy. Besides the improvements of conventional invasive diagnostic tests, the discovery of circulating cell-free foetal nucleic acids in maternal plasma has developed a new point of view for non-invasive prenatal diagnosis recently.

  8. Prenatal diagnosis of cleft lip/palate: The surface rendered oro-palatal (SROP) view of the fetal lips and palate, a tool to improve information-sharing within the orofacial team and with the parents.

    PubMed

    Levaillant, Jean-Marc; Nicot, Romain; Benouaiche, Laurence; Couly, Gérard; Rotten, Daniel

    2016-07-01

    The ultrasonographic surface rendered oro-palatal (SROP) view is a 3D reconstructed view of the fetal perioral region, which combines ultrasound insonation in a trans oral, upward directed axial direction and the surface rendered mode. It allows the simultaneous visualization on a single scan of the superior lip, alveolar ridge and secondary palate. It corresponds prenatally to the submental intra oral photography of the palate of neonates. The aim of the study was to demonstrate the benefice of using the SROP view in the management of cleft lip with or without cleft palate, uni- or bi-lateral, diagnosed prenatally (22-28 gestational weeks). The SROP view allowed the representation on a single view of the characteristics of the defect useful to the different members of the orofacial team to exactly evaluate the difformity and to plan the ulterior therapeutic steps (e.g. side, extension of the cleft to the secondary palate, tooth organization). Also, being easier to read by lay people thanks to the use of a surface rendered representation rather than the usual multiplanar reconstructions in the three traditional orthogonal planes, the SROP view makes it easier to bring exact information to the parents about the malformation and its consequences. PMID:27211349

  9. Three-dimensional sonographic imaging of the equine superficial digital flexor tendon.

    PubMed

    Wood, A K; Sehgal, C M; Reef, V B

    1994-11-01

    In a feasability study, a technique for constructing 3-dimensional sonographic images of the superficial digital flexor tendon (SDFT) was established in 6 clinically normal horses and applied to 7 horses with injured SDFT. Two-dimensional B-mode sonographic images were recorded on videotape as the sonographic transducer was manually moved along the palmar aspect of the metacarpal region. Selected videofields were digitized, and 3-dimensional images were constructed, using a computer work station and dedicated software program. The 3-dimensional images were of high quality and presented qualitative clinical information in unique fashion. Indication of the extent of SDFT injuries was excellent. Such 3-dimensional images would be especially useful in explaining to owners and trainers the importance of the injury to their horse and would have a role in monitoring tendon healing and in the assessment of various treatments.

  10. Ethics of prenatal ultrasound.

    PubMed

    Howe, David

    2014-04-01

    Prenatal ultrasound has opened new opportunities to examine, diagnose and treat the fetus, but these advances bring with them ethical dilemmas. In this chapter, I address the ethical principles that need to be considered when treating both mother and fetus as patients, and how these can be applied in practice. In particular, ultrasound practitioners have an ethical duty to maintain their theoretical knowledge and practical skills to ensure they advise parents correctly. I also discuss the ethical issues in carrying out intrauterine therapy, ultrasound-related research, and termination of pregnancy for fetal abnormality.

  11. Sonographic evaluation of fetal cerebral structures correlated with histological aspects.

    PubMed

    Comănescu, Alexandru Cristian; Cernea, Nicolae; Tica, Oana Sorina; Comănescu, Maria Victoria; Niculescu, Elena Carmen; Florou, Charoula; Grosu, Florin

    2015-01-01

    Prenatal development of the human brain from undifferentiated neuroepithelium, crosses numerous steps towards primordial organization and subsequent cytoarchitectural layering, ascending and progressive from the lower cortical layers to the superior ones. Our study represents a systematic, comparative assessment of imaging studies and the histological evaluation of the prenatal development of the human brain. We evaluated 232 cases using 3D ultrasound. Histological study was performed on 17 cases aged between 8 and 32 weeks pregnancy and compared with imaging results. For the ultrasound study, we chose five anatomical landmarks: the choroid plexus, thalamus, cerebellum, hippocampus and island (Sylvian fissure). The histological study was performed on dissected brain specimens preserved in formaldehyde and was followed by immunohistochemical determination in order to complete the picture of the morphological evolution of the structures evaluated. We analyzed the accuracy of the description of marker elements (choroid plexus, thalamus, cerebellum, hippocampus and Sylvian fissure) in three-dimensional ultrasound evaluation. This showed a good correlation with the morphological evaluation as well as with the dimensional descriptions from the literature. Histological and immunohistochemical assessment helped complete the picture of the central nervous system development. Highlighting fetal cerebral structures by three-dimensional ultrasound, together with morphological examination helped us create a dynamic array of the central nervous system development.

  12. Sonographically-Guided Hydrodissection and Corticosteroid Injection for Scleroderma Hand

    PubMed Central

    DeLea, Suzanne L.; Chavez-Chiang, Natalia R.; Poole, Janet L.; Norton, Hillary E.; Sibbitt, Wilmer L.; Bankhurst, Arthur D.

    2013-01-01

    Objective Scleroderma is associated with intractable hand pain from vasospasm, digital ischemia, tenosynovitis, and nerve entrapment. This study investigated the effect of hydrodissection of the carpal tunnel followed by corticosteroid injection for the painful scleroderma hand. Methods 26 consecutive subjects (12 with painful scleroderma hand and 14 with rheumatoid arthritis and carpal tunnel syndrome (RA/CTS) underwent sonographically-observed carpal tunnel hydrodissection with 3 mls of 1% lidocaine administered with a 25 gauge 1 inch needle on a 3 ml RPD mechanical syringe (reciprocating procedure device). After hydrodissection a syringe exchange was performed and 80 mg of triamcinolone acetonide was injected. Baseline pain, procedural pain, pain at outcome, responders, therapeutic duration, and reinjection interval were determined. Results Hydrodissection and injection with corticosteroid significantly reduced pain scores by 67% in scleroderma (p<0.001) and by 47% in RA/CT (p <0.001). Scleroderma and RA/CTS were similar in outcome measures: injection pain (p=0.47), pain scores at outcome (p = 0.13), responders (Scleroderma: 83.3%, RA/CTS: 57.1%, p = 0.15), pain at 6 months (p =0.15), and therapeutic duration (p=0.07). Scleroderma patients responded better in time to next injection (Scleroderma: 8.5±3.0 months; RA/CTS: 5.2±3.1 months, p = 0.03). Reduced Raynaud’s attacks and healing of digital ulcers occurred in 83% of subjects. There were no complications. Conclusion Hydrodissection with lidocaine followed by injection of triamcinolone reduces pain and vasomotor changes in the scleroderma hand. The mechanism may be a combination of hydrodissection-mediated mechanical freeing of entrapped arteries, nerves, and tendinous structures and corticosteroid-induced reduction of inflammatory vasospasm. PMID:21234632

  13. Prenatal vitamins: what is in the bottle?

    PubMed

    Duerbeck, Norman B; Dowling, David D; Duerbeck, Jillinda M

    2014-12-01

    Nearly all obstetricians routinely prescribe prenatal vitamins to their pregnant patients at the time of the first prenatal visit. Many times, patients' understanding of the health benefits of prenatal vitamins differs substantially from that of the prescribing physician. The following is a review of the most common ingredients found in prenatal vitamins and their purported health benefits.

  14. Spontaneous Shrinkage of a Suprasellar Arachnoid Cyst Diagnosed with Prenatal Sonography and Fetal Magnetic Resonance Imaging: Case Report and Review of the Literature.

    PubMed

    Goksu, Ethem; Kazan, Saim

    2015-01-01

    Arachnoid cysts (AC's) are congenital anomalies that occur within the cerebrospinal fluid (CSF) cisterns and major cerebral fissures. Suprasellar AC's comprise 5-12.5% of all the lesions. Despite being commonly reported, their etiology and pathogenesis still remain unclear. In this report, we presented an unusual case of spontaneous shrinkage of a suprasellar AC that had been incidentally diagnosed during a routine prenatal sonographic examination. To our knowledge, only three cases of spontaneous shrinkage of suprasellar AC have been reported in the literature. In detail of the manuscript, fetal and postnatal radiological images were presented and the possible mechanisms were discussed with a review of the literature. PMID:26242350

  15. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.

    PubMed

    Krakow, Deborah; Alanay, Yasemin; Rimoin, Lauren P; Lin, Victoria; Wilcox, William R; Lachman, Ralph S; Rimoin, David L

    2008-08-01

    The osteochondrodysplasias or skeletal dysplasias are a heterogenous group of over 350 distinct disorders of skeletogenesis. Many manifest in the prenatal period, making them amenable to ultrasound prenatal diagnosis. A retrospective analysis evaluated 1,500 cases referred to the International Skeletal Dysplasia Registry (ISDR) to determine the relative frequency of specific osteochondrodysplasias and correlation of ultrasound versus radiographic diagnoses for these disorders. Within the retrospective cohort of 1,500 cases, 85% of the referred cases represented well-defined skeletal dysplasias, and the other 15% of cases were a mixture of genetic syndromes and probable early-onset intrauterine growth restriction. The three most common prenatal-onset skeletal dysplasias were osteogenesis imperfecta type 2, thanatophoric dysplasia and achondrogenesis 2, accounting for almost 40% of the cases. In a prospective analysis of 500 cases using a standardized ultrasound approach to the evaluation of these disorders, the relative frequencies of osteogenesis imperfecta type 2, thanatophoric dysplasia and achondrogenesis 2 were similar to the retrospective analysis. This study details the relative frequencies of specific prenatal-onset osteochondrodysplasias, their heterogeneity of prenatal-onset skeletal disorders and provides a standardized prenatal ultrasound approach to these disorders which should aid in the prenatal diagnosis of fetuses suspected of manifesting skeletal dysplasias. PMID:18627037

  16. Fetal Right Ventricular Diverticulum Detected by Prenatal Ultrasound Screening

    PubMed Central

    Hayashi, Kaori; Tsuji, Shunichiro; Ono, Tetsuo; Ishiko, Akiko; Takahashi, Kentaro; Murakami, Takashi

    2016-01-01

    Prenatal ultrasound screening has allowed for the detection of in utero cardiac abnormalities. Specifically, distinction is possible between ventricular diverticula and aneurysms, which is important because each condition has a different clinical outcome. We report the case of a 35-year-old, gravida 1, para 1 woman, with no significant past medical history, who underwent routine prenatal ultrasound screening at 32 weeks' gestation. A four-chamber ultrasound of the fetal heart combined with M-mode echocardiography showed abnormal dilatation of the right ventricular chamber measuring 2.2 cm × 1.0 cm but with normal contractility. Delivery was performed at full term by cesarean section, and a right ventricular diverticulum was confirmed by postnatal cardiac computed tomography. The baby developed normally with no cardiac sequelae during followup. This case demonstrates the importance of making a correct diagnosis of ventricular diverticula by prenatal ultrasound when abnormal dilatation of the fetal ventricle is identified during routine screening. Because evaluating the wall contractility by M-mode ultrasound leads to evaluating whether it has the myocardium, we conclude that M-mode echocardiography is effective for the purpose of prenatal cardiac diagnosis and can distinguish between ventricular aneurysms and functioning ventricular diverticula.

  17. Prenatal nutrition: special considerations.

    PubMed

    Cox, J T; Phelan, S T

    2009-10-01

    Awareness of the importance of nutrition during pregnancy has increased in recent years.Pregnancy outcomes vary by prepregnant weight as well as gestational weight gain. Inappropriate gain may have both short- and long-term consequences for mother and infant. This review article includes the newly released US Institute of Medicine prenatal weight gain guidelines, as well as the Dietary Reference Intakes for the US and selected European societies.Food safety topics are discussed including Listeria, Toxoplasma, peanuts, mercury and other contaminants. Preconceptual nutrition is discussed, as are specific at-risk prenatal nutrients, including folic acid, choline, vitamin B12, omega-3 fatty acids, iodine, calcium, vitamin D, and iron. Current controversies are discussed and practical suggestions are given to safely optimize nutrient intake. As part of the medical team, a local Registered Dietitian or other nutrition professional can give much more detailed guidance and support for a pregnant woman given her particular risk factors, including her pre-existing medical conditions and cultural concerns, and will emphasize nutritional quality rather than just pounds gained. PMID:19749670

  18. Sonographic Evaluation and Sonographic-Guided Therapeutic Options of Lateral Ankle Pain: Peroneal Tendon Pathology Associated with the Presence of an Os Peroneum

    PubMed Central

    Adler, Ronald S.; Saboeiro, Gregory R.; Pavlov, Helene

    2010-01-01

    Clinical implications of acute injuries of the os peroneum have been described, with the recommendation in some cases being the excision of the bone fragments. We describe the spectrum of sonographic appearances associated with pain in the region of the os peroneum, document associated peroneal tendon pathology, and describe the use of sonography to direct and guide therapeutic and/or diagnostic injections. All sonographic examinations in our ultrasound database from Jan 1, 2001–Jan 30, 2007 with the words “os peroneum” were reviewed. Patients were cross-referenced in our radiology database to find relevant foot or ankle radiographs for correlation. There were 47 patients (18 men and 29 women, age range 16 to 83) referred for sonographic evaluation of lateral foot and/or ankle pain who had an os peroneum identified during the sonographic evaluation. Eighteen patients were referred specifically for targeted injection of the lateral ankle, including peroneal tendon sheath injections (N = 10), calcaneocuboid joint injections (N = 1), and injections around symptomatic os peroneum (N = 7). All 47 patients had tendinosis of the peroneus longus, in varying degrees of severity. Radiographs were available for correlation in 28 patients. The causes of lateral ankle pain with a co-existent os peroneum are multifactorial and may not directly relate to the presence of an os peroneum. Ultrasound can be of value in separating out the specific etiology for pain, as well as provide a method for problem solving by the performance of targeted diagnostic or therapeutic injections in the lateral ankle. PMID:21886533

  19. A New Case of Prenatally Diagnosed Pentasomy X: Review of the Literature

    PubMed Central

    Pirollo, Linda Maria Azzurra; Salehi, Leila Baghernajad; Sarta, Simona; Cassone, Marco; Capogna, Maria Vittoria; Piccione, Emilio; Novelli, Giuseppe; Pietropolli, Adalgisa

    2015-01-01

    Pentasomy X is a rare chromosomal abnormality probably due to a nondisjunction during the meiosis. Only four cases prenatally diagnosed were described until now. Our case is the fifth one prenatally diagnosed at 20 weeks of gestational age in a 39-years-old woman. She underwent invasive prenatal diagnosis for her advanced maternal age without any other known risk factor. Amniocentesis performed at 17 weeks showed a female 49, XXXXX karyotype. The ultrasonographic examination revealed nonspecific signs of a mild early fetal growth retardation and no significant increased nuchal fold. The fetal autopsy and the X-ray excluded major malformations. Prenatal diagnosis is often difficult due to the lack of indicative ultrasonographic findings and the rarity of described cases. The influence of the mother's age on the occurrence of penta-X syndrome has not been determined. Considering the lack of correlation between advanced maternal age and increased risk for pentasomy X, as well as the absence of typical echographic signs, evaluation of the inclusion of a noninvasive prenatal test (NIPT) that expands clinical coverage to include the X and Y chromosomes in routine prenatal diagnosis should be considered as well as three-dimensional ultrasound to detect any helpful indicative prognostic signs. PMID:25699192

  20. A new case of prenatally diagnosed pentasomy x: review of the literature.

    PubMed

    Pirollo, Linda Maria Azzurra; Salehi, Leila Baghernajad; Sarta, Simona; Cassone, Marco; Capogna, Maria Vittoria; Piccione, Emilio; Novelli, Giuseppe; Pietropolli, Adalgisa

    2015-01-01

    Pentasomy X is a rare chromosomal abnormality probably due to a nondisjunction during the meiosis. Only four cases prenatally diagnosed were described until now. Our case is the fifth one prenatally diagnosed at 20 weeks of gestational age in a 39-years-old woman. She underwent invasive prenatal diagnosis for her advanced maternal age without any other known risk factor. Amniocentesis performed at 17 weeks showed a female 49, XXXXX karyotype. The ultrasonographic examination revealed nonspecific signs of a mild early fetal growth retardation and no significant increased nuchal fold. The fetal autopsy and the X-ray excluded major malformations. Prenatal diagnosis is often difficult due to the lack of indicative ultrasonographic findings and the rarity of described cases. The influence of the mother's age on the occurrence of penta-X syndrome has not been determined. Considering the lack of correlation between advanced maternal age and increased risk for pentasomy X, as well as the absence of typical echographic signs, evaluation of the inclusion of a noninvasive prenatal test (NIPT) that expands clinical coverage to include the X and Y chromosomes in routine prenatal diagnosis should be considered as well as three-dimensional ultrasound to detect any helpful indicative prognostic signs. PMID:25699192

  1. Prenatal detection of a congenital pancreatic cyst by ultrasound.

    PubMed

    Choi, Sang-Joon; Kang, Min-Chang; Kim, Young-Hye; Lim, Ju-Sung; Lim, Sung-Chul; Chang, Jung-Hwan

    2007-02-01

    We present a case of a fetal pancreatic cyst, a rare disease in fetal life, detected prenatally at 30 weeks' gestation by ultrasound. Routine ultrasound examination at 30 weeks' gestation by primary obstetrician showed a cyst on the fetal abdomen. Initially, the suspected diagnosis was a mesenteric cyst. Subsequent ultrasound examination at weeks 32, 36 showed a fetal retroperitoneal cyst. A 3.6 kg female neonate was born to 23 yr old woman by spontaneous vaginal delivery at 38 weeks' gestation. The fetus underwent exploratory laparotomy. Histopathologic and immunohistochemical diagnosis revealed the cyst to be a pancreatic cyst. Surgical outcome was excellent. Thus, we report this case of a pancreatic cyst detected via prenatal ultrasonography.

  2. Fetal tumors: prenatal ultrasonographic findings and clinical characteristics

    PubMed Central

    2014-01-01

    The incidence of fetal tumors has been increased due to generalization of prenatal evaluation and improvement of imaging techniques. The early detection of a fetal tumor and understanding of its imaging features are very important for fetal, maternal, and neonatal care. Ultrasonography is usually used for the detection and differential diagnosis of fetal tumors, and magnetic resonance imaging is increasingly being used as a complementary study. Many fetal tumors have different clinical and imaging features compared with pediatric tumors. Although several fetal tumors may mimic other common anomalies, some specific imaging features may carry early accurate diagnosis of fetal tumors, which may alter the prenatal management of a pregnancy and the mode of delivery, and facilitate immediate postnatal treatment. PMID:25116458

  3. Urethral length measurement in women during sonographic urethrocystography – an analysis of repeatability and reproducibility

    PubMed Central

    Kociszewski, Jacek; Suzin, Jacek; Dresler, Maria; Surkont, Grzegorz

    2016-01-01

    There has been a rise in the use of sonographic urethrocystography in patients with a full bladder. So far, no publications have been made on the analysis of repeatability and reproducibility of the measurements performed during this procedure. Aim An assessment of repeatability and reproducibility of urethral length measurements during sonographic urethrocystography in females with a full bladder in the introital approach, using real-time two-dimensional transvaginal ultrasound. Material and methods The ultrasound was performed in accordance with a standardized technique in female patients with a full bladder containing 200–300 mL of liquid. A total of 92 patients were included in the analysis. Results The Intraclass Correlation Coefficient for repeatability and reproducibility of urethral length measurements in sonographic urethrocystography ranged between 0.9217 and 0.9873 (p = 0.0000). The analysis of ultrasound urethral length measurements taken by two different physicians at an interval of several months confirmed their very high compatibility (ICC = 0.81, p = 0.000). Conclusions Very good repeatability and reproducibility of urethral length findings during sonographic urethrocystography performed in accordance with the presented technique support the possible use of this type of examination in both clinical practice and research. PMID:27104000

  4. Prenatal screening: current practice, new developments, ethical challenges.

    PubMed

    de Jong, Antina; Maya, Idit; van Lith, Jan M M

    2015-01-01

    Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent 'reproductive autonomy' is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue. PMID:25521968

  5. Prenatal screening and its impact on persons with disabilities.

    PubMed

    Kaplan, D

    1993-09-01

    A lawyer from the World Institute on Disability uses a disability perspective to explore some policy effects of prenatal screening. This perspective is grounded in life experiences of persons with disabilities who hold academic, scientific, and social positions that allow them the opportunity to share their on the value of living with a disability. Society must first clarify what goals it wants to attain before it considers the effectiveness of prenatal screening. If society wants to save future humans from suffering a terrible quality of life, it must be confident that a link exists between predictable genetic consequences and a negative life experience. If the goal is to deal with economic or social disadvantages related to genetic disabilities, society should at least study whether methods other than prenatal screening can achieve this goal and society should scrutinize these alternatives. Even though the disability rights movement acknowledges economic and social disadvantages, it also knows that many persons with disabilities have satisfying jobs, happy family situations, and various community roles. Thus, the disadvantages can be eliminated without getting rid of persons with disabilities. Advocacy for civil rights protection, legislation to eliminate environmental obstacles, agendas to promote and make available technology, and more effective social support programs are ways the disability rights movement tries to remove social and economic barriers. Prenatal screening seems to not match the goals of the movement. Further, many of its leaders challenge its value and ethical basis. Some people view prenatal screening as a technology that is advancing without a firm foundation in social policy. The constant growth of information about human genetics makes it more complex to address the value and ethical questions. Society must incorporate persons with disabilities into prenatal diagnosis research and examination of policy alternatives. The disability community

  6. Prenatal screening: current practice, new developments, ethical challenges.

    PubMed

    de Jong, Antina; Maya, Idit; van Lith, Jan M M

    2015-01-01

    Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent 'reproductive autonomy' is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue.

  7. Ethical issues in prenatal testing.

    PubMed

    Burgess, M M

    1994-04-01

    Many ethical concerns raised by prenatal testing are based on the use and effects of genetic information in nonclinical contexts. Correct or incorrect beliefs about social uses of genetic information may limit the voluntariness of informed consent to prenatal testing. A qualitative study of persons predictively tested for Huntington's disease illustrates how the social context, in this case the family history of being at risk, affects the interpretation of the genetic information and alters relationships. This constitutes a risk of genetic testing. Prenatal testing also requires ethical analysis based on careful understanding of how social attitudes and nonclinical uses affect voluntariness and potential harm and benefits of testing. Investigators conducting research on prenatal tests share the responsibility to evaluate social attitudes toward at-risk persons, nonclinical uses of genetic information, and the social benefits and harm of such uses.

  8. Right thoracic ectopic kidney in a child with breathing difficulties--sonographic diagnosis.

    PubMed

    Maduekwe, Echezona; Weinberg, Brighita; Samaan, Bassem; Sheferaw, Ergeba; Suntharos, Patcharapong

    2011-02-01

    Congenital intrathoracic ectopic kidney is a rare congenital abnormality that is usually found as an incidental lesion on chest radiographs. We report the case of a 6-month-old male with a 1-day history of breathing difficulties whose chest radiograph revealed a soft tissue right basilar mass. Further investigation utilizing ultrasound revealed a thoracic kidney. This case demonstrates the importance of sonography as a diagnostic tool in identifying thoracic kidneys in the pediatric age group. PMID:20564312

  9. Prenatal meditation influences infant behaviors.

    PubMed

    Chan, Ka Po

    2014-11-01

    Meditation is important in facilitating health. Pregnancy health has been shown to have significant consequences for infant behaviors. In view of limited studies on meditation and infant temperament, this study aims to explore the effects of prenatal meditation on these aspects. The conceptual framework was based on the postulation of positive relationships between prenatal meditation and infant health. A randomized control quantitative study was carried out at Obstetric Unit, Queen Elizabeth Hospital in Hong Kong. 64 pregnant Chinese women were recruited for intervention and 59 were for control. Outcome measures were cord blood cortisol, infant salivary cortisol, and Carey Infant Temperament Questionnaire. Cord blood cortisol level of babies was higher in the intervention group (p<0.01) indicates positive health status of the newborns verifies that prenatal meditation can influence fetal health. Carey Infant Temperament Questionnaire showed that the infants of intervention group have better temperament (p<0.05) at fifth month reflects the importance of prenatal meditation in relation to child health. Present study concludes the positive effects of prenatal meditation on infant behaviors and recommends that pregnancy care providers should provide prenatal meditation to pregnant women.

  10. Prenatal Depression Restricts Fetal Growth

    PubMed Central

    Diego, Miguel A.; Field, Tiffany; Hernandez-Reif, Maria; Schanberg, Saul; Kuhn, Cynthia; Gonzalez-Quintero, Victor Hugo

    2009-01-01

    Objective To identify whether prenatal depression is a risk factor for fetal growth restriction. Methods Midgestation (18-20 weeks GA) estimated fetal weight and urine cortisol and birth weight and gestational age at birth data were collected on a sample of 40 depressed and 40 non-depressed women. Estimated fetal weight and birthweight data were then used to compute fetal growth rates. Results Depressed women had a 13% greater incidence of premature delivery (Odds Ratio (OR) = 2.61) and 15% greater incidence of low birthweight (OR = 4.75) than non-depressed women. Depressed women also had elevated prenatal cortisol levels (p = .006) and fetuses who were smaller (p = .001) and who showed slower fetal growth rates (p = .011) and lower birthweights (p = .008). Mediation analyses further revealed that prenatal maternal cortisol levels were a potential mediator for the relationship between maternal symptoms of depression and both gestational age at birth and the rate of fetal growth. After controlling for maternal demographic variables, prenatal maternal cortisol levels were associated with 30% of the variance in gestational age at birth and 14% of the variance in the rate of fetal growth. Conclusion Prenatal depression was associated with adverse perinatal outcomes, including premature delivery and slower fetal growth rates. Prenatal maternal cortisol levels appear to play a role in mediating these outcomes. PMID:18723301

  11. Cardiac size during prenatal development.

    PubMed

    Jordaan, H V

    1987-06-01

    In this study, the cardiac circumference as measured in a four-chamber view was analyzed to determine its relationship to three linear, sonar measurements--biparietal diameter, femoral length, and abdominal circumference--and two sonographically derived fetal parameters--gestational age and estimated fetal weight. The results showed that the cardiac circumference correlates significantly with these direct and derived variables. It is recommended that the magnitude of the cardiac circumference as a function of any or all of these variables be used as an index of organ size when assessing fetuses at risk for anomalous cardiac development.

  12. Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa.

    PubMed

    Pulkkinen, L; Cserhalmi-Friedman, P B; Tang, M; Ryan, M C; Uitto, J; Christiano, A M

    1998-09-01

    Mutations in the genes (LAMA3, LAMB3, and LAMC2) encoding the subunit polypeptides of the cutaneous basement membrane zone protein laminin 5 have been reported in different forms of junctional epidermolysis bullosa (JEB), an inherited blistering skin disease. In this study, we present the complete exon-intron organization of the "a" transcript of the laminin alpha3 chain gene, LAMA3a, which is expressed primarily in the skin. We have performed fine-resolution mapping of this gene on chromosome 18q11.2 using a human-hamster radiation hybrid panel. We have also developed a mutation-detection strategy based on the exon-intron structure of LAMA3a. This strategy, based on PCR amplification of genomic sequences, followed by heteroduplex scanning and automated nucleotide sequencing, was used for successful mutation screening in a family with the lethal (Herlitz) type of JEB, and two novel LAMA3 mutations were identified in the proband. The mutations consisted of a single-base pair deletion in LAMA3a exon A11 on the paternal allele, designated 1239delC, and a two-base pair deletion in LAMA3a exon A23 on the maternal allele, designated 2959delGG. This information was also used for DNA-based prenatal testing in a subsequent pregnancy in this family. Collectively, these results attest to our expanding capability to elucidate the genetic basis of various forms of epidermolysis bullosa using molecular techniques. PMID:9759651

  13. [A Case of EXIT (Ex-utero Intrapartum Treatment) in a Fetus with Prenatal Diagnosis of a Giant Cervical Tumor: Successful Airway Management but without Indication of Treatment for a Tumor].

    PubMed

    Masamoto, Chikako; Onishi, Hiroyasu; Doi, Yumi; Uekita, Ikuo; Kagawa, Tetsuro

    2016-06-01

    The ex-utero intrapartum treatment (EXIT) is a rare procedure, and often comes as an emergency surgery. A careful preparation is crucial and a multidisciplinary team discussion during the prenatal period is necessary because it may be practically and ethically difficult to plan a surgical treatment for a fetus for EXIT. An elective caesarean section and EXIT for a fetus with a giant cervical tumor, which may cause airway obstruction and difficult intubation, were scheduled. The anesthesiologist tried oral intubation by direct laryngoscope; however, neither blade nor rigid bronchoscope insertion was impossible as a firm mass protruded in oral cavity from the left side. Tracheotomy was successfully performed and the airway was secured. As for maternal anesthesia, adequate uterine relaxation was obtained by inhalational agents and nitroglycerine. After ligation of the umbilical cord, anesthesia was maintained with propofol and fentanyl, and good uterine contraction was provided by infusion of oxytocin. The duration of EXIT was 44 minutes. The fetal tumor, containing both solid and cystic components, was 14 centimeters in diameter, and infiltrated into intracranial space. There was no indication of resection nor chemotherapy for the tumor. Palliative care was selected, and the neonate died forty days after birth. PMID:27483657

  14. Early Detection of Drug-Induced Renal Hemodynamic Dysfunction Using Sonographic Technology in Rats

    PubMed Central

    Fisch, Sudeshna; Liao, Ronglih; Hsiao, Li-Li; Lu, Tzongshi

    2016-01-01

    The kidney normally functions to maintain hemodynamic homeostasis and is a major site of damage caused by drug toxicity. Drug-induced nephrotoxicity is estimated to contribute to 19- 25% of all clinical cases of acute kidney injury (AKI) in critically ill patients. AKI detection has historically relied on metrics such as serum creatinine (sCr) or blood urea nitrogen (BUN) which are demonstrably inadequate in full assessment of nephrotoxicity in the early phase of renal dysfunction. Currently, there is no robust diagnostic method to accurately detect hemodynamic alteration in the early phase of AKI while such alterations might actually precede the rise in serum biomarker levels. Such early detection can help clinicians make an accurate diagnosis and help in in decision making for therapeutic strategy. Rats were treated with Cisplatin to induce AKI. Nephrotoxicity was assessed for six days using high-frequency sonography, sCr measurement and upon histopathology of kidney. Hemodynamic evaluation using 2D and Color-Doppler images were used to serially study nephrotoxicity in rats, using the sonography. Our data showed successful drug-induced kidney injury in adult rats by histological examination. Color-Doppler based sonographic assessment of AKI indicated that resistive-index (RI) and pulsatile-index (PI) were increased in the treatment group; and peak-systolic velocity (mm/s), end-diastolic velocity (mm/s) and velocity-time integral (VTI, mm) were decreased in renal arteries in the same group. Importantly, these hemodynamic changes evaluated by sonography preceded the rise of sCr levels. Sonography-based indices such as RI or PI can thus be useful predictive markers of declining renal function in rodents. From our sonography-based observations in the kidneys of rats that underwent AKI, we showed that these noninvasive hemodynamic measurements may consider as an accurate, sensitive and robust method in detecting early stage kidney dysfunction. This study also

  15. Prevalence and sonographic changes compatible with fatty liver disease in patients referred for abdominal ultrasound examination in Aracaju, SE*

    PubMed Central

    Cruz, Josilda Ferreira; Cruz, Mário Augusto Ferreira; Machado Neto, José; de Santana, Demetrius Silva; Oliveira, Cristiane Costa da Cunha; Lima, Sônia Oliveira

    2016-01-01

    Objective To estimate the prevalence and evaluate sonographic findings compatible with changes consistent with hepatic steatosis in patients referred for abdominal ultrasonography at four reference centers in Aracaju, SE, Brazil. Materials and Methods Prospective, descriptive survey, with analytical and quantitative approach, comprising abdominal ultrasonography scans performed with a convex, dynamic 3.75 MHz transducer. Liver dimensions and parenchymal echotexture were evaluated, classifying hepatic steatosis into grades (1, 2 or 3). The SPSS® 22.0 software was used for statistical analysis, adopting p < 0.05 as significance level. Results A total of 800 individuals (561 women and 239 men) were evaluated. The prevalence of steatosis was 29.1%, and the male patients were most affected, presenting with more advanced grades of disease (p = 0.021), as follows: 119 grade 1 (51.0%); 94 grade 2 (40.4%); and 20 grade 3 (8.6%). The median age patients' was 46 years. Conclusion In the present study sample, the prevalence of hepatic steatosis was high, particularly in the male patients. Ultrasonography is suggested as a first choice for the diagnosis of this condition, considering its wide availability, low cost and absence of side effects or risks to the patient. PMID:26929453

  16. [Diagnosis of malignant tumors of the uterus by transabdominal ultrasonography: a utopia?].

    PubMed

    Hänggi, W; Dürig, P; Herrmann, U

    1990-08-01

    Two hundred non-pregnant women with suspected uterine disease were included in a prospective study designed to assess the accuracy of sonography in conforming or excluding the presence of uterine cancer. All patients were operated on and the preoperative sonographic findings were compared with the final histological diagnosis. The predictive value of sonographic evidence of malignancy was 43.9% (18/41), the predictive value of benign disease was 94.8% (147/155). Sensitivity was 66.7% (18/27) and specificity 85% (147/173). The sonographic detection of uterine cancer is in need of improvement. At present it cannot be used as a substitute of invasive diagnostic tools in patients with suspected uterine cancer.

  17. Prenatal exercise research.

    PubMed

    Field, Tiffany

    2012-06-01

    In this review of recent research on prenatal exercise, studies from several different countries suggest that only approximately 40% of pregnant women exercise, even though about 92% are encouraged by their physicians to exercise, albeit with some 69% of the women being advised to limit their exercise. A moderate exercise regime reputedly increases infant birthweight to within the normal range, but only if exercise is decreased in late pregnancy. Lower intensity exercise such as water aerobics has decreased low back pain more than land-based physical exercise. Heart rate and blood pressure have been lower following yoga than walking, and complications like pregnancy-induced hypertension with associated intrauterine growth retardation and prematurity have been less frequent following yoga. No studies could be found on tai chi with pregnant women even though balance and the risk of falling are great concerns during pregnancy, and tai chi is one of the most effective forms of exercise for balance. Potential underlying mechanisms for exercise effects are that stimulating pressure receptors during exercise increases vagal activity which, in turn, decreases cortisol, increases serotonin and decreases substance P, leading to decreased pain. Decreased cortisol is particularly important inasmuch as cortisol negatively affects immune function and is a significant predictor of prematurity. Larger, more controlled trials are needed before recommendations can be made about the type and amount of pregnancy exercise.

  18. Prenatal exercise research.

    PubMed

    Field, Tiffany

    2012-06-01

    In this review of recent research on prenatal exercise, studies from several different countries suggest that only approximately 40% of pregnant women exercise, even though about 92% are encouraged by their physicians to exercise, albeit with some 69% of the women being advised to limit their exercise. A moderate exercise regime reputedly increases infant birthweight to within the normal range, but only if exercise is decreased in late pregnancy. Lower intensity exercise such as water aerobics has decreased low back pain more than land-based physical exercise. Heart rate and blood pressure have been lower following yoga than walking, and complications like pregnancy-induced hypertension with associated intrauterine growth retardation and prematurity have been less frequent following yoga. No studies could be found on tai chi with pregnant women even though balance and the risk of falling are great concerns during pregnancy, and tai chi is one of the most effective forms of exercise for balance. Potential underlying mechanisms for exercise effects are that stimulating pressure receptors during exercise increases vagal activity which, in turn, decreases cortisol, increases serotonin and decreases substance P, leading to decreased pain. Decreased cortisol is particularly important inasmuch as cortisol negatively affects immune function and is a significant predictor of prematurity. Larger, more controlled trials are needed before recommendations can be made about the type and amount of pregnancy exercise. PMID:22721740

  19. Maternal Ultrasonography for the Antenatal Diagnosis of Surgically Significant Neonatal Anomalies

    PubMed Central

    Canty, Timothy G.; Leopold, George R.; Wolf, Deborah A.

    1981-01-01

    The increased use of ultrasonography in the management and evaluation of pregnancy has provided a unique opportunity to observe the anatomy of the developing fetus from 12 weeks gestation until term. Twenty-eight surgically important anatomic abnormalities have been diagnosed in utero by sonographic examinations at our affiliated institutions over the past three and a half years. These include ascites (five cases), gastroschisis (four cases), omphalocele (three cases), sacrococcygeal teratoma, cystic hygroma, hydrocele, duodenal atresia, multicystic kidney (two cases each), and one each of jejunal atresia, conjoined twins, ureteropelvic junction obstruction, urethral valves, urethral agenesis, and hydronephrosis secondary to reflux. Prenatal diagnosis by ultrasonographic examination has signifcantly improved perinatal management. Elective caesarean section has benefited infants with lesions causing dystocia, such as sacrococcygeal teratoma, omphalocele, and conjoined twins. Advance notification of surgeons and neonatalogists has reduced the delays of postnatal evaluation and treatment that contribute, significantly, to complications and death. In addition, transfer of the pregnant mother carrying an infant with a significant surgical anomaly to a center with facilities for neonatal surgery and specialized postoperative care can be properly planned for in advance. In the near future, intrauterine fetal surgery or palliative intervention may provide increased salvage of patients with obstructive uropathy and diaphragmatic hernia, both of which carry high mortality rates secondary to in utero damage. Sonography has proven useful in following the dilatation of either intestinal or urinary tract structures in utero. In our hands, maternal sonography has improved the surgical care of the newborn and may open a new frontier of intrauterine fetal surgery in the future. ImagesFig. 1a.Fig. 1b.Fig. 2a.Fig. 2b.Fig. 3.Fig. 4.Fig. 5.Fig. 6a.Fig. 6b.Fig. 6c.Fig. 7a.Fig. 7b.Fig. 8

  20. Update on prenatal care.

    PubMed

    Zolotor, Adam J; Carlough, Martha C

    2014-02-01

    Many elements of routine prenatal care are based on tradition and lack a firm evidence base; however, some elements are supported by more rigorous studies. Correct dating of the pregnancy is critical to prevent unnecessary inductions and to allow for accurate treatment of preterm labor. Physicians should recommend folic acid supplementation to all women as early as possible, preferably before conception, to reduce the risk of neural tube defects. Administration of Rho(D) immune globulin markedly decreases the risk of alloimmunization in an RhD-negative woman carrying an RhD-positive fetus. Screening and treatment for iron deficiency anemia can reduce the risks of preterm labor, intrauterine growth retardation, and perinatal depression. Testing for aneuploidy and neural tube defects should be offered to all pregnant women with a discussion of the risks and benefits. Specific genetic testing should be based on the family histories of the patient and her partner. Physicians should recommend that pregnant women receive a vaccination for influenza, be screened for asymptomatic bacteriuria, and be tested for sexually transmitted infections. Testing for group B streptococcus should be performed between 35 and 37 weeks' gestation. If test results are positive or the patient has a history of group B streptococcus bacteriuria during pregnancy, intrapartum antibiotic prophylaxis should be administered to reduce the risk of infection in the infant. Intramuscular or vaginal progesterone should be considered in women with a history of spontaneous preterm labor, preterm premature rupture of membranes, or shortened cervical length (less than 2.5 cm). Screening for diabetes should be offered using a universal or a risk-based approach. Women at risk of preeclampsia should be offered low-dose aspirin prophylaxis, as well as calcium supplementation if dietary calcium intake is low. Induction of labor may be considered between 41 and 42 weeks' gestation. PMID:24506122

  1. BMUS guidelines for the regular quality assurance testing of ultrasound scanners by sonographers

    PubMed Central

    Russell, Stephen; Ward, Barry; Hoskins, Peter

    2013-01-01

    Quality Assurance of ultrasound systems is necessary to ensure the reliability of results and to check for deterioration in performance; a number of bodies have produced guidelines. Testing has traditionally been the responsibility of Medical Physics Departments but the important role of sonographers has been recognised and recent publications have included tests to be performed by ultrasound users. Since there are differences in approach between these publications the BMUS QA Working Party was established to provide a consistent set of guidelines specifically for sonographers. Three levels of testing are recommended, to include infection control and inspections for scanner and probe damage, basic display checks and further tests to assess drop-out, sensitivity and noise. These tests should form part of a programme that includes more comprehensive testing at longer intervals, perhaps by a Medical Physics Department. PMID:27433187

  2. Sonographic findings during and after Platelet Rich Plasma injections in tendons

    PubMed Central

    Abate, Michele; Verna, Sandra; Di Gregorio, Patrizia; Salini, Vincenzo; Schiavone, Cosima

    2014-01-01

    Summary Platelet rich plasma has been used in the treatment of tendinopathies, but the sonographic modifications of tendons have received less attention. In this paper we report the results of an ultrasound evaluation, performed during and after plasma injection, in patients with tendinopathy. The sonographic abnormalities and neovascularization were registered in twenty tendons. Three plasma injections (once a week) were performed, and a rehabilitation program was recommended. Pain and patients’ satisfaction were evaluated. During the injections plasma spread along the collagen fibers, and an intratendineous cleft produced by the injected volume was observed. At 12 months two tendons regained a normal echotexture, while neovessels were absent in seven. The remaining tendons showed less abnormalities and neovascularization in comparison with baseline. The clinical improvement was earlier and more consistent. The discrepancy between the ultrasound and clinical results may be explained by the peculiar modalities of tendon healing induced by plasma administration. PMID:24932444

  3. Licensure of the cardiac sonographer: an overview of issues and activities.

    PubMed

    Rosenbloom, J; Dempsey, A L; Gillam, L D; Davis, C L; Gresser, C; Kraft, C D; McIlwain, E F; Rutlege, S A; Waggoner, A D

    2001-12-01

    The impact of echocardiography on the continuum of cardiovascular health care is well established. Ongoing concerns regarding costs, accessibility, quality, and appropriateness of services rendered by practitioners of echocardiography have prompted various legislative proposals and regulatory policies from government, medical professional groups, and health plans. Specifically, there continues to be a drive to enact law for licensure of sonographers. These activities require continuing advocacy for the profession with active leadership. As part of its mission statement, the American Society of Echocardiography (ASE) states, "ASE strives to be a leader in public policy in order to create a favorable environment for excellence in the practice of echocardiography." As such, the ASE is committed to an increase in their interaction with legislators, payers, and policy makers. This article describes the historical perspective of state, federal, and provincial sonographer licensure issues to provide an understanding of the political perspectives. PMID:11734789

  4. Neck and upper extremity pain in sonographers - Associations with occupational factors.

    PubMed

    Gremark Simonsen, Jenny; Axmon, Anna; Nordander, Catarina; Arvidsson, Inger

    2017-01-01

    Sonographers have a high risk of musculoskeletal disorders. This study explores the associations between working conditions and musculoskeletal pain based on the frequency and intensity of pain in the neck and upper extremities. A questionnaire was answered by 291 female sonographers. High prevalence of neck/shoulder pain was associated with eye complaints and headache related to work on the computer, dissatisfaction with the computer workstation, high mechanical exposure index (MEI) and high demands. The possibility to adjust the keyboard and chair, and adequately corrected eyesight were positive factors. High prevalence of elbow/hand pain was associated with performing echocardiography, computer-related eye complaints, high MEI and high job and sensory demands. In echocardiography, working with a straight wrist and holding the transducer with a two-handed grip or alternating hands was associated with a low prevalence of elbow/hand pain. Thus, further improvements in the working conditions are possible and are recommended. PMID:27633219

  5. Sonographic Findings of Common Musculoskeletal Diseases in Patients with Diabetes Mellitus

    PubMed Central

    Park, Minho; Ahn, Sung Eun; Ryu, Kyung Nam; Park, So Young; Jin, Wook

    2016-01-01

    Diabetes mellitus (DM) can accompany many musculoskeletal (MSK) diseases. It is difficult to distinguish the DM-related MSK diseases based on clinical symptoms alone. Sonography is frequently used as a first imaging study for these MSK symptoms and is helpful to differentiate the various DM-related MSK diseases. This pictorial essay focuses on sonographic findings of various MSK diseases that can occur in diabetic patients. PMID:26957910

  6. Hepatobiliary and pancreatic ascariasis-sonographic pictorial essay on four pediatric cases with acute biliary colic.

    PubMed

    Lynser, Donboklang; Marbaniang, Evarisalin

    2016-04-01

    Hepatobiliary and pancreatic ascariasis occur due to migration of the round worm ascaris lumbricoides through the bile duct orifice finally reaching the common bile duct, main pancreatic duct, intrahepatic ducts or gallbladder. These resulted in acute epigastric and right hypochondriac region colicky pain. Ultrasound is the investigation of choice in hepatobiliary ascariasis. We present here sonographic images on four pediatric patients with acute biliary colic. PMID:26690772

  7. Comparative Study of Clinical and Sonographic Estimation of Foetal Weight at Term.

    PubMed

    Bakshi, L; Begum, H A; Khan, I; Dey, S K; Bhattacharjee, M; Bakshi, M K; Dey, S; Habib, A; Barman, K K

    2015-07-01

    A cross sectional comparative study was conducted at Dhaka National Medical College, Dhaka from January to June 2012, to observe the accuracy of clinical and ultrasonographic estimation of foetal weight at term in our environment. Seventy five pregnant women who fulfilled the inclusion criteria had their foetal weight estimated independently using clinical and ultrasonographic methods. Accuracy was determined by percentage error, absolute percentage error and proportion of estimates within 10% of actual birth weight (birth weight fetus of +10%). Statistical analysis was done using the paired t-test, the Wilcoxon signed-rank test, and the chi-square test. The study sample had an actual average birth weight of 2989.60 ± 408.76 (range 2310-4000 gm). Overall, the clinical method overestimated birth-weight, while ultrasound underestimated it. The mean absolute percentage error of the clinical method was more than that of the sonographic method, and the number of estimates within 10% of actual birth weight for the clinical method (41.3%) was less than for the sonographic method (57.3%); the difference was not statistically significant. In the low birth-weight (<2,500 gm) group, the mean absolute percentage error of sonographic estimates were significantly smaller. Significantly more sonographic estimates (75%) were within 10% of actual birth-weight than those of the clinical method (0%). No statistically significant difference was observed in all the measures of accuracy for the normal birth-weight range of 2,500-<4,000 gm and in the macrosomic group (≥ 4,000 gm). Clinical estimation of birth-weight is as accurate as routine ultrasonographic estimation, except in low-birth-weight babies.

  8. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues

    PubMed Central

    Gekas, Jean; Langlois, Sylvie; Ravitsky, Vardit; Audibert, François; van den Berg, David Gradus; Haidar, Hazar; Rousseau, François

    2016-01-01

    Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women. PMID:26893576

  9. Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome

    PubMed Central

    Mucciolo, Mafalda; Dello Russo, Claudio; D’Emidio, Laura; Mesoraca, Alvaro; Giorlandino, Claudio

    2016-01-01

    Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD), a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties. PMID:27322245

  10. Prenatal Nutrition and Later Education

    ERIC Educational Resources Information Center

    Evans, T. N.

    1972-01-01

    Text of an affidavit in the case, Kennedy v. Detroit Board of Education. Reports on a study which established that prenatal nutrition is directly related to brain size and volume determined at 48 hours of infancy and at eight months of age. Pinpoints the relationship between inadequate nutrition in pregnancy, infant brain size, and intellectual…

  11. Aneuploidy among prenatally detected neural tube defects

    SciTech Connect

    Hume, R.F. Jr.; Lampinen, J.; Martin, L.S.; Johnson, M.P.; Evans, M.I.

    1996-01-11

    We have reported previously a 10% aneuploidy detection rate among 39 cases of fetal neural tube defects (NTD). Subsequently we amassed an additional experience of over 17,000 prenatal diagnosis cases over a 5-year period. During this period 106 cases of NTDs were identified; 44 with anencephaly, 62 with open spina bifida. The average maternal age of this population with NTDs was 29 years (15-40); 6 patients declined amniocentesis. Six of 100 cytogenetic studies were aneuploid; on anencephalic fetus had inherited a maternal marker chromosome, and 5 NTD cases had trisomy 18. The average maternal age of the aneuploid cases was 21 (19-40); 3 were 35 years or older. Four of 5 trisomy 18 cases had multiple congenital anomalies (MCA). The overall aneuploidy detection rate in our cohort was 5-6, while aneuploidy occurred in 2% of the isolated NTD cases, and 24% of the MCA cases. Combining the earlier experience, 4/39 aneuploidy (2 trisomy 18, 4p+, del 13q) yields an aneuploidy detection frequency of 10/145 (7%), of which most (7/10) had trisomy 18. These data support fetal karyotyping for accurate diagnosis, prognosis, and recurrence-risk counseling. 5 refs., 2 tabs.

  12. Prenatal presentation of pyruvate dehydrogenase complex deficiency.

    PubMed

    Natarajan, Niranjana; Tully, Hannah M; Chapman, Teresa

    2016-08-01

    We present the case of a female infant referred for prenatal MR evaluation of ventriculomegaly, which had been attributed by the referring obstetrician to aqueductal stenosis. Fetal MR confirmed ventriculomegaly but also demonstrated cerebral volume loss and white matter abnormalities. After birth, the infant developed persistent lactic acidosis. A diagnosis of pyruvate dehydrogenase complex deficiency was made on the basis of metabolic and molecular genetic studies. Ventriculomegaly is a common referral reason for fetal MR, yet there are few published reports of the radiographic findings that accompany inborn errors of metabolism, one potentially under-recognized cause of enlarged ventricles. This case contributes to this small body of literature on the imaging features of pyruvate dehydrogenase complex deficiency by describing pre- and postnatal MR findings and key clinical details. Our report emphasizes the necessity of considering pyruvate dehydrogenase complex deficiency and other metabolic disorders as potential etiologies for fetal ventriculomegaly since prompt diagnosis may allow for early initiation of treatment and improve outcome. PMID:27026023

  13. Sonographic and computed tomographic evaluation of intrahepatic calculi

    SciTech Connect

    Menu, Y.; Lorphelin, J.M.; Scherrer, A.; Grenier, P.; Nahum, H.

    1985-09-01

    Intrahepatic calculi in non-Asian patients were studied by sonography and computed tomography (CT). Three patients were studied by CT cholangiography also. In two cases, the calculi were consecutive to Caroli disease, and in two others, the biliary stones were formed proximal to a stenosis of a previous surgical anastomosis. Five patients spontaneously developed intrahepatic calculi. All sonograms were abnormal. Image specificity was good, even when bile ducts were not dilated, if appropriate technique allowed identification of a double-arc-shadow pattern. Sonography strongly suggested the diagnosis in eight patients and was nonspecific in only one. On CT, calculi had various densities, and they were not visible in two patients. CT cholangiography was not particularly helpful. Both examinations strongly underestimate the number of stones, and direct cholangiography remains indicated if surgery is planned.

  14. Antenatal Diagnosis of a Rare Neural Tube Defect: Sincipital Encephalocele

    PubMed Central

    Kehila, Mehdi; Ghades, Sana; Abouda, Hassine Saber; Masmoudi, Aida; Chanoufi, Mohamed Badis

    2015-01-01

    Context. Fetal sincipital encephalocele is one of the most serious congenital neural tube defects with a high risk of mortality and neonatal morbidity. Prenatal diagnosis of this malformation is important in fetal medicine. Case Report. We report a case of prenatal diagnosis of sincipital encephalocele using ultrasound and MRI imaging. The diagnosis was done at 25 weeks of gestation by identifying an anterior cephalic protrusion through a defect in the skull. Conclusion. Through this case, we discuss the differential diagnosis, management, and prognosis of such lesions. PMID:26294989

  15. Prenatal Particulate Matter/Tobacco Smoke Increases Infants' Respiratory Infections: COCOA Study

    PubMed Central

    Yang, Song-I; Kim, Byoung-Ju; Lee, So-Yeon; Kim, Hyo-Bin; Lee, Cheol Min; Yu, Jinho; Kang, Mi-Jin; Yu, Ho-Sung; Lee, Eun; Jung, Young-Ho; Kim, Hyung Young; Seo, Ju-Hee; Kwon, Ji-Won; Song, Dae Jin; Jang, GwangCheon; Kim, Woo-Kyung; Shim, Jung Yeon; Lee, Soo-Young; Yang, Hyeon Jong; Suh, Dong In; Hong, Seo Ah; Choi, Kil-Yong; Shin, Youn Ho; Ahn, Kangmo; Kim, Kyung Won; Kim, Eun-Jin

    2015-01-01

    Purpose To investigate whether prenatal exposure to indoor fine particulate matter (PM2.5) and environmental tobacco smoke (ETS) affects susceptibility to respiratory tract infections (RTIs) in infancy, to compare their effects between prenatal and postnatal exposure, and to determine whether genetic factors modify these environmental effects. Methods The study population consisted of 307 birth cohort infants. A diagnosis of RTIs was based on parental report of a physician's diagnosis. Indoor PM2.5 and ETS levels were measured during pregnancy and infancy. TaqMan was used for genotyping of nuclear factor erythroid 2-related factor (Nrf2) (rs6726395), glutathione-S-transferase-pi (GSTP) 1 (rs1695), and glutathione-S-transferase-mu (GSTM) 1. Microarrays were used for genome-wide methylation analysis. Results Prenatal exposure to indoor PM2.5 increased the susceptibility of lower RTIs (LRTIs) in infancy (adjusted odds ratio [aOR]=2.11). In terms of combined exposure to both indoor PM2.5 and ETS, prenatal exposure to both pollutants increased susceptibility to LRTIs (aOR=6.56); however, this association was not found for postnatal exposure. The Nrf2 GG (aOR=23.69), GSTM1 null (aOR=8.18), and GSTP1 AG or GG (aOR=7.37) genotypes increased the combined LRTIs-promoting effects of prenatal exposure to the 2 indoor pollutants. Such effects of prenatal indoor PM2.5 and ETS exposure were not found for upper RTIs. Conclusions Prenatal exposure to both indoor PM2.5 and ETS may increase susceptibility to LRTIs. This effect can be modified by polymorphisms in reactive oxygen species-related genes. PMID:26333704

  16. Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA.

    PubMed

    Chitty, Lyn S; Lo, Y M Dennis

    2015-01-01

    The identification of cell-free fetal DNA (cffDNA) in maternal plasma in 1997 heralded the most significant change in obstetric care for decades, with the advent of safer screening and diagnosis based on analysis of maternal blood. Here, we describe how the technological advances offered by next-generation sequencing have allowed for the development of a highly sensitive screening test for aneuploidies as well as definitive prenatal molecular diagnosis for some monogenic disorders. PMID:26187875

  17. Diagnosis of Testicular Adrenal Rest Tumors on Ultrasound

    PubMed Central

    Wang, Zhu; Yang, Zheng; Wang, Wei; Chen, Li-Da; Huang, Yang; LI, Wei; Liu, Jin-Ya; Xie, Xiao-Yan; Lu, Ming-De; Lin, Man-Xia

    2015-01-01

    Abstract The aim of this study was to evaluate the imaging features of testicular adrenal rest tumors (TARTs) on baseline ultrasound (BUS). The imaging features of 30 TART lesions pathologically or clinically confirmed in 15 patients who had undergone BUS were evaluated, and the sonographic characteristics of the lesions were analyzed. All 15 cases were bilateral and located near the testicular mediastinum. Approximately 56.7% (17/30) of the TART lesions exhibited homogeneous hypoechogenicity, 36.7% (11/30) of the lesions exhibited heterogeneous hypoechogenicity, and 6.6% (2/30) of the lesions exhibited heterogeneous isoechogenicity. In addition, 76.7% (23/30) of the lesions exhibited a rich blood supply, whereas 23.3% (7/30) of the lesions exhibited a scarce blood supply. The sonographic characteristics of the TARTs were bilateral growth, location adjacent to the testicular mediastinum, hypoechogenicity, and rich blood supply, which may play important roles in early clinical diagnosis. PMID:26356704

  18. A rational approach to prenatal screening and intervention.

    PubMed

    Yagel, S; Anteby, E

    1998-05-01

    Improved testing procedures now allow prenatal screening for a wide range of congenital defects, including cystic fibrosis and muscular dystrophy. An emerging technique also allows diagnosis of congenital anomalies during the pre-implantation stage of in vitro fertilization. Thus, clinicians need an established criteria to use as a guide when counseling parents about what prenatal testing is possible, feasible, and desirable. For example, there are limits to prenatal testing for conditions like mutations in the breast cancer gene because affected individuals do not necessary develop the condition and a cure may be found by the time the condition develops. It is even questionable if parents should be given this information until the child reaches an appropriate age. One approach to development of guidelines is to classify congenital abnormalities according to severity, age of onset, and type (structural-functional versus mental). This system reveals anomalies that are clearly lethal, lead to moderate or severe disability with little or no prospect of improvement or cure, are characterized by early onset, and/or involve obvious mental retardation. This approach is particularly relevant in cases of trisomy 21, and progressively invasive screening techniques are available to detect this most common pattern of malformation in humans. PMID:9647530

  19. Prenatal findings in trisomy 16q of paternal origin.

    PubMed

    Paladini, D; D'Agostino, A; Liguori, M; Teodoro, A; Tartaglione, A; Colombari, S; Martinelli, P

    1999-05-01

    A 34-year-old pregnant woman was referred at 30 weeks of gestation with suspected fetal congenital heart disease. On prenatal ultrasound the following anomalies were detected: intra-uterine growth retardation, micrognathia, coarctation of the aorta with ventricular and atrial septal defects, ambiguous external genitalia, and clinodactyly of one hand with adducted thumb. Prenatal karyotyping was offered but refused by the patient. The fetus was delivered by Caesarean section due to fetal distress at 36 weeks of gestation. The neonate, weighing 2150 g was transferred to the neonatal intensive care unit, where he died 10 days later. The karyotype from peripheral blood lymphocytes was 46,XY+der(20)t(16;20)(q12.1;p13)pat. The maternal karyotype was unremarkable, whereas the father had the translocation t(16;20)(q12.1;p13). Necropsy confirmed all the prenatal findings. These are discussed together with the implications of the chromosomal diagnosis and the pertinent literature is reviewed.

  20. Access to and utilization of prenatal care services in the Unified Health System of the city of Rio de Janeiro, Brazil.

    PubMed

    Domingues, Rosa Maria Soares Madeira; Leal, Maria do Carmo; Hartz, Zulmira Maria de Araujo; Dias, Marcos Augusto Bastos; Vettore, Marcelo Vianna

    2013-12-01

    Prenatal care consists of practices considered to be effective for the reduction of adverse perinatal outcomes. However, studies have demonstrated inequities in pregnant women's access to prenatal care, with worse outcomes among those with lower socioeconomic status. The objective of this study is to evaluate access to and utilization of prenatal services in the Sistema Único de Saúde (SUS - Unified Health System) in the city of Rio de Janeiro and to verify its association with the characteristics of pregnant women and health services. A cross-sectional study was conducted in 2007-2008, using interviews and the analysis of prenatal care cards of 2.353 pregnant women attending low risk prenatal care services of the SUS. A descriptive analysis of the reasons mentioned by women for the late start of prenatal care and hierarchical logistic regression for the identification of the factors associated with prenatal care use were performed. The absence of a diagnosis of pregnancy and poor access to services were the reasons most often reported for the late start of prenatal care. Earlier access was found among white pregnant women, who had a higher level of education, were primiparous and lived with a partner. The late start of prenatal care was the factor most associated with the inadequate number of consultations, also observed in pregnant adolescents. Black women had a lower level of adequacy of tests performed as well as a lower overall adequacy of prenatal care, considering the Programa de Humanização do Pré-Natal e Nascimento (PHPN - Prenatal and Delivery Humanization Program) recommendations. Strategies for the identification of pregnant women at a higher reproductive risk, reduction in organizational barriers to services and increase in access to family planning and early diagnosis of pregnancy should be prioritized.

  1. Usefulness of diagnostic indices comprising clinical, sonographic, and biomarker data for discriminating benign from malignant ovarian masses.

    PubMed

    Stukan, Maciej; Dudziak, Miroslaw; Ratajczak, Karol; Grabowski, Jacek P

    2015-02-01

    The objective of this study was to review the accuracy of indices combining several diagnostic variables, in comparison to other models, sonography alone, and biomarker assays, for predicting benign or malignant ovarian lesions. Different single modalities were reviewed. The most useful complex models were International Ovarian Tumor Analysis (IOTA) sonographic logistic regression model 2 (area under the curve, 0.949), risk of malignancy index-cancer antigen 125-human epididymis protein 4 (0.950), risk of malignancy algorithm (0.953), pelvic mass score (0.960), non-IOTA logistic regression model (0.970), and histoscanning score logistic regression model (0.970). None of the indices was superior to an expert subjective sonographic assessment (0.968). For women with adnexal tumors, indices with high accuracy are available that are applicable in clinical practice and comparable to an expert subjective sonographic assessment for discriminating benign from malignant masses.

  2. Sonographic evaluation of the temporomandibular joints in juvenile idiopathic arthritis().

    PubMed

    Melchiorre, D; Falcini, F; Kaloudi, O; Bandinelli, F; Nacci, F; Matucci Cerinic, M

    2010-03-01

    Sommario INTRODUZIONE: L'artrite Idiopatica giovanile (AIG) determina alterazioni a carico della testa condilare dell'articolazione temporomandibolare (ATM). Nell'esordio oligo-articolare (OA) l'interessamento dell'ATM viene spesso trascurato perchè può essere asintomatico. Lo scopo di questo studio è quello di valutare la presenza di versamento intrarticolare (V) dell'ATM, mediante esame ecografico (US), nelle fasi precoci di malattia. MATERIALE E METODI: Sono stati studiati 68 bambini (57 bambine e 11 bambini, di età compresa tra 9,1 e 16, anni, età media: 11,02 ± 4,2 mesi) con AIG ad esordio OA. I pazienti (pz) erano sintomatici quando uno dei quattro sintomi seguenti era presente: 1) dolore ricorrente (a riposo o durante il movimento di apertura della bocca); 2) presenza di scrosci articolari; 3) presenza di limitazione nell'apertura della bocca; 4) locking intermittente. US è stato eseguito su entrambe le ATM sia in fase statica che dinamica, mediante ecografo General Electric (LOGIQ7) con sonda lineare (8,5 MHz) posizionata lungo l'asse maggiore del ramo condilare. Il V era presente quando lo spessore della capsula articolare era ≥1,5 mm. RISULTATI: 46/68 (68%) hanno presentato V a carico delle ATM; in 16 (35%) il V era bilaterale. 2/46 con V erano sintomatici, mentre in 44 non erano presenti sintomi. CONCLUSIONI: Questi dati suggeriscono che un'alta percentuale di bambini e giovani adulti con AIG ad esordio OA, nella fase iniziale della malattia, presenta un interessamento flogistico delle ATM anche in assenza di sintomi. L'US, non invasivo e facilmente ripetibile, ci offre importanti informazioni sul coinvolgimento articolare delle ATM ed è risultato utile nella diagnosi all'esordio.

  3. Prenatal Cerebellar Disruptions: Neuroimaging Spectrum of Findings in Correlation with Likely Mechanisms and Etiologies of Injury.

    PubMed

    Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

    2016-08-01

    There is increasing evidence that the cerebellum is susceptible to prenatal infections and hemorrhages and that congenital morphologic anomalies of the cerebellum may be caused by disruptive (acquired) causes. Starting from the neuroimaging pattern, this report describes a spectrum of prenatal cerebellar disruptions including cerebellar agenesis, unilateral cerebellar hypoplasia, cerebellar cleft, global cerebellar hypoplasia, and vanishing cerebellum in Chiari type II malformation. The neuroimaging findings, possible causative disruptive events, and clinical features of each disruption are discussed. Recognition of cerebellar disruptions and their differentiation from cerebellar malformations is important in terms of diagnosis, prognosis, and genetic counselling. PMID:27423799

  4. Reliability Assessment of Various Sonographic Techniques for Evaluating Carpal Tunnel Syndrome.

    PubMed

    Junck, Anthony D; Escobedo, Eva M; Lipa, Bethany M; Cronan, Michael; Anthonisen, Colleen; Poltavskiy, Eduard; Bang, Heejung; Han, Jay J

    2015-11-01

    Objectives-The aim of this study was to determine the intra- and inter-rater reliability of sonographic measurements of the median nerve cross-sectional area in individuals with carpal tunnel syndrome and healthy control participants.Methods-The median nerve cross-sectional area was evaluated by sonography in 18 participants with carpal tunnel syndrome (18 upper extremities) and 9 control participants (18 upper extremities) at 2 visits 1 week apart. Two examiners, both blinded to the presence or absence of carpal tunnel syndrome, captured independent sonograms of the median nerve at the levels of the carpal tunnel inlet, pronator quadratus, and mid-forearm. The cross-sectional area was later measured by each examiner independently. Each also traced images that were captured by the other examiner.Results-Both the intra- and inter-rater reliability rates were highest for images taken at the carpal tunnel inlet (radiologist, r = 0.86; sonographer, r = 0.87; inter-rater, r = 0.95; all P < .0001), whereas they was lowest for the pronator quadratus (r = 0.49, 0.29, and 0.72, respectively; all P < .0001). At the mid-forearm, the intra-rater reliability was lower for both the radiologist and sonographer, whereas the inter-rater reliability was relatively high (r = 0.54, 0.55, and 0.81; all P < .0001). Tracing of captured images by different examiners showed high concordance for the median cross-sectional area at the carpal tunnel inlet (r = 0.96-0.98; P < .0001).Conclusions-The highest intra- and inter-rater reliability was found at the carpal tunnel inlet. The results also demonstrate that tracing of the median nerve cross-sectional area from captured images by different examiners does not contribute significantly to measurement variability.

  5. Reliability Assessment of Various Sonographic Techniques for Evaluating Carpal Tunnel Syndrome.

    PubMed

    Junck, Anthony D; Escobedo, Eva M; Lipa, Bethany M; Cronan, Michael; Anthonisen, Colleen; Poltavskiy, Eduard; Bang, Heejung; Han, Jay J

    2015-11-01

    Objectives-The aim of this study was to determine the intra- and inter-rater reliability of sonographic measurements of the median nerve cross-sectional area in individuals with carpal tunnel syndrome and healthy control participants.Methods-The median nerve cross-sectional area was evaluated by sonography in 18 participants with carpal tunnel syndrome (18 upper extremities) and 9 control participants (18 upper extremities) at 2 visits 1 week apart. Two examiners, both blinded to the presence or absence of carpal tunnel syndrome, captured independent sonograms of the median nerve at the levels of the carpal tunnel inlet, pronator quadratus, and mid-forearm. The cross-sectional area was later measured by each examiner independently. Each also traced images that were captured by the other examiner.Results-Both the intra- and inter-rater reliability rates were highest for images taken at the carpal tunnel inlet (radiologist, r = 0.86; sonographer, r = 0.87; inter-rater, r = 0.95; all P < .0001), whereas they was lowest for the pronator quadratus (r = 0.49, 0.29, and 0.72, respectively; all P < .0001). At the mid-forearm, the intra-rater reliability was lower for both the radiologist and sonographer, whereas the inter-rater reliability was relatively high (r = 0.54, 0.55, and 0.81; all P < .0001). Tracing of captured images by different examiners showed high concordance for the median cross-sectional area at the carpal tunnel inlet (r = 0.96-0.98; P < .0001).Conclusions-The highest intra- and inter-rater reliability was found at the carpal tunnel inlet. The results also demonstrate that tracing of the median nerve cross-sectional area from captured images by different examiners does not contribute significantly to measurement variability. PMID:26453123

  6. Breast Filariasis Diagnosed by Real Time Sonographic Imaging: A Case Report.

    PubMed

    Sherwani, Poonam; Singhal, Shweta; Kumar, Nidhi; Narula, Mahender Kaur; Anand, Rama; Pathania, Om Prakash

    2016-01-01

    A 30-year-old woman presented with a palpable subcutaneous nodule in the areolar region of the left breast. Sonomammographic examination revealed 2 cystic lesions showing typical "filarial dance" as vigorous twirling movement of multiple curvilinear echoes with mixed red blue color Doppler signals that was non-rhythmic, nonpulsatile, and the characteristic pulse Doppler trace due to irregular worm movement. Real time sonographic demonstration of these typical features is pathognomonic for filariasis, especially in endemic areas and treatment should be initiated without delay on the basis of ultrasound. PMID:27110331

  7. Prevalence of different hip sonographic types: A cross-sectional study

    PubMed Central

    Adibi, Atoosa; Karami, Mahdi; Koohi, Kaveh; Shirahmad, Mehran

    2015-01-01

    Background: Developmental dysplasia of the hip (DDH) is an anatomical abnormality, which needs early detection and treatment. Ultrasound (US) is a sensitive method to study neonatal hip joint and detection of different types of sonographic hip. This study was aimed to determine relative frequency of different types of DDH ultrasonographically. Materials and Methods: Ultrasound examination was performed on 380 newborns to determine hip joint status according to the Graf ultrasound classification system for infant hips. In addition, hip joint status was compared based on the hip side, gender, and method of delivery. Results: In this study, we observed three sonographic types: Ia (74%), type Ib (20%), and IIa (6%). No significant difference was found in relative frequency of different types of DDH regarding the side of the hip (P = 0.18). Type IIa was found significantly more in the female newborns (P < 0.0001) and in newborns who were born by cesarean section (P < 0.0001). Conclusion: This study supports the role of US detection of different types of DDH; however, the frequency of pathologic types of hip sonography is 6%. PMID:25709988

  8. Adhesive capsulitis: one sonographic-guided injection of 20 mg triamcinolon into the rotator interval.

    PubMed

    Juel, Niels Gunnar; Oland, Gunnar; Kvalheim, Synnøve; Løve, Tormod; Ekeberg, Ole Marius

    2013-06-01

    The aim of this study was to establish a method for injecting corticosteroid into the rotator interval under sonographic guidance and to measure the effect on function, pain and range of motion after 4 and 12 weeks. This study involved a multicenter cohort trial and carried out at outpatient clinics of the physical medicine and rehabilitation departments in Oslo and Porsgrunn, Norway. 39 patients with adhesive capsulitis lasting between 3 and 12 months. Sonographic-guided corticosteroid and lidocaine injection into the rotator interval medial to the biceps tendon using 20 mg triamcinolon hexacetat and 3 ml 20 mg/ml xylocain. Change in the shoulder pain and disability index score (SPADI) after 12 weeks. The change in SPADI was 42 points (95 % confidence interval, 33-51). Changes in the secondary outcomes shoved highly statistically significant increase in active and passive range of motion. One ultrasound-guided corticosteroid injection into the rotator interval seems to give significant improvement in SPADI and active range of motion after 12 weeks. The protocol was evaluated by the research faculty at Oslo university hospital, dept of physical medicine. The study was regarded as regular clinical procedure as injections with triamcinolon already is standard treatment. No trial registration was obtained but the protocol presented the local ethics committee without comments. PMID:23263492

  9. Sonographic Measurement of Abdominal Esophageal Length as a Diagnostic Tool in Gastroesophageal Reflux Disease in Infants

    PubMed Central

    Dehdashti, Hamid; Dehdashtian, Masoud; Rahim, Fakher; Payvasteh, Mehrdad

    2011-01-01

    Background/Aim: This study was conducted to provide sonographic measurements of the abdominal esophagus length in neonates and infants with and without gastroesophageal reflux disease (GERD) and to investigate its diagnostic value. GERD severity was also evaluated and correlated with esophageal length. It is a prospective case-control study. Materials and Methods: This prospective case-control study comprised 235 neonates and infants (120 without reflux and 115 with reflux). There were 40 children without reflux in each of three age categories: less than 1 month, 1–6 months, and 6–12 months. Of the children with reflux, 40 were less than 1 month old; 37, 1–6 months; and 38, 6–12 months. The abdominal esophagus was measured from its entrance into the diaphragm to the base of gastric folds in fed infants. GERD was sonographically diagnosed and confirmed by a barium meal. The number of refluxes during a 10-min period were recorded. Results: Neonates and infants with reflux had a significantly shorter abdominal esophagus than subjects without reflux: the mean difference in neonates, 4.65 mm; 1–6 months, 4.57 mm; 6–12 months, 3.61 mm. Conclusions: Children with severe reflux had a shorter esophagus compared with those with mild and moderate reflux only in the neonate group. Therefore, thinking of GERD and carefully looking for its symptoms is necessary to avoid unnecessary utilization of healthcare resources in children with severe reflux. PMID:21196654

  10. Prevalence of syphilis in pregnancy and prenatal syphilis testing in Brazil: Birth in Brazil study

    PubMed Central

    Domingues, Rosa Maria Soares Madeira; Szwarcwald, Celia Landmann; Souza, Paulo Roberto Borges; Leal, Maria do Carmo

    2014-01-01

    OBJECTIVE Determine the coverage rate of syphilis testing during prenatal care and the prevalence of syphilis in pregnant women in Brazil. METHODS This is a national hospital-based cohort study conducted in Brazil with 23,894 postpartum women between 2011 and 2012. Data were obtained using interviews with postpartum women, hospital records, and prenatal care cards. All postpartum women with a reactive serological test result recorded in the prenatal care card or syphilis diagnosis during hospitalization for childbirth were considered cases of syphilis in pregnancy. The Chi-square test was used for determining the disease prevalence and testing coverage rate by region of residence, self-reported skin color, maternal age, and type of prenatal and child delivery care units. RESULTS Prenatal care covered 98.7% postpartum women. Syphilis testing coverage rate was 89.1% (one test) and 41.2% (two tests), and syphilis prevalence in pregnancy was 1.02% (95%CI 0.84;1.25). A lower prenatal coverage rate was observed among women in the North region, indigenous women, those with less education, and those who received prenatal care in public health care units. A lower testing coverage rate was observed among residents in the North, Northeast, and Midwest regions, among younger and non-white skin-color women, among those with lower education, and those who received prenatal care in public health care units. An increased prevalence of syphilis was observed among women with < 8 years of education (1.74%), who self-reported as black (1.8%) or mixed (1.2%), those who did not receive prenatal care (2.5%), and those attending public (1.37%) or mixed (0.93%) health care units. CONCLUSIONS The estimated prevalence of syphilis in pregnancy was similar to that reported in the last sentinel surveillance study conducted in 2006. There was an improvement in prenatal care and testing coverage rate, and the goals suggested by the World Health Organization were achieved in two regions. Regional

  11. Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure.

    PubMed

    Treit, Sarah; Zhou, Dongming; Chudley, Albert E; Andrew, Gail; Rasmussen, Carmen; Nikkel, Sarah M; Samdup, Dawa; Hanlon-Dearman, Ana; Loock, Christine; Beaulieu, Christian

    2016-01-01

    Head circumference is used together with other measures as a proxy for central nervous system damage in the diagnosis of fetal alcohol spectrum disorders, yet the relationship between head circumference and brain volume has not been investigated in this population. The objective of this study is to characterize the relationship between head circumference, brain volume and cognitive performance in a large sample of children with prenatal alcohol exposure (n = 144) and healthy controls (n = 145), aged 5-19 years. All participants underwent magnetic resonance imaging to yield brain volumes and head circumference, normalized to control for age and sex. Mean head circumference, brain volume, and cognitive scores were significantly reduced in the prenatal alcohol exposure group relative to controls, albeit with considerable overlap between groups. Males with prenatal alcohol exposure had reductions in all three measures, whereas females with prenatal alcohol exposure had reduced brain volumes and cognitive scores, but no difference in head circumference relative to controls. Microcephaly (defined here as head circumference ≤ 3rd percentile) occurred more often in prenatal alcohol exposed participants than controls, but 90% of the exposed sample had head circumferences above this clinical cutoff indicating that head circumference is not a sensitive marker of prenatal alcohol exposure. Normalized head circumference and brain volume were positively correlated in both groups, and subjects with very low head circumference typically had below-average brain volumes. Conversely, over half of the subjects with very low brain volumes had normal head circumferences, which may stem from differential effects of alcohol on the skeletal and nervous systems. There were no significant correlations between head circumference and any cognitive score. These findings confirm group-level reductions in head circumference and increased rates of microcephaly in children with prenatal alcohol

  12. Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure.

    PubMed

    Treit, Sarah; Zhou, Dongming; Chudley, Albert E; Andrew, Gail; Rasmussen, Carmen; Nikkel, Sarah M; Samdup, Dawa; Hanlon-Dearman, Ana; Loock, Christine; Beaulieu, Christian

    2016-01-01

    Head circumference is used together with other measures as a proxy for central nervous system damage in the diagnosis of fetal alcohol spectrum disorders, yet the relationship between head circumference and brain volume has not been investigated in this population. The objective of this study is to characterize the relationship between head circumference, brain volume and cognitive performance in a large sample of children with prenatal alcohol exposure (n = 144) and healthy controls (n = 145), aged 5-19 years. All participants underwent magnetic resonance imaging to yield brain volumes and head circumference, normalized to control for age and sex. Mean head circumference, brain volume, and cognitive scores were significantly reduced in the prenatal alcohol exposure group relative to controls, albeit with considerable overlap between groups. Males with prenatal alcohol exposure had reductions in all three measures, whereas females with prenatal alcohol exposure had reduced brain volumes and cognitive scores, but no difference in head circumference relative to controls. Microcephaly (defined here as head circumference ≤ 3rd percentile) occurred more often in prenatal alcohol exposed participants than controls, but 90% of the exposed sample had head circumferences above this clinical cutoff indicating that head circumference is not a sensitive marker of prenatal alcohol exposure. Normalized head circumference and brain volume were positively correlated in both groups, and subjects with very low head circumference typically had below-average brain volumes. Conversely, over half of the subjects with very low brain volumes had normal head circumferences, which may stem from differential effects of alcohol on the skeletal and nervous systems. There were no significant correlations between head circumference and any cognitive score. These findings confirm group-level reductions in head circumference and increased rates of microcephaly in children with prenatal alcohol

  13. Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure

    PubMed Central

    Treit, Sarah; Zhou, Dongming; Chudley, Albert E.; Andrew, Gail; Rasmussen, Carmen; Nikkel, Sarah M.; Samdup, Dawa; Hanlon-Dearman, Ana; Loock, Christine; Beaulieu, Christian

    2016-01-01

    Head circumference is used together with other measures as a proxy for central nervous system damage in the diagnosis of fetal alcohol spectrum disorders, yet the relationship between head circumference and brain volume has not been investigated in this population. The objective of this study is to characterize the relationship between head circumference, brain volume and cognitive performance in a large sample of children with prenatal alcohol exposure (n = 144) and healthy controls (n = 145), aged 5–19 years. All participants underwent magnetic resonance imaging to yield brain volumes and head circumference, normalized to control for age and sex. Mean head circumference, brain volume, and cognitive scores were significantly reduced in the prenatal alcohol exposure group relative to controls, albeit with considerable overlap between groups. Males with prenatal alcohol exposure had reductions in all three measures, whereas females with prenatal alcohol exposure had reduced brain volumes and cognitive scores, but no difference in head circumference relative to controls. Microcephaly (defined here as head circumference ≤ 3rd percentile) occurred more often in prenatal alcohol exposed participants than controls, but 90% of the exposed sample had head circumferences above this clinical cutoff indicating that head circumference is not a sensitive marker of prenatal alcohol exposure. Normalized head circumference and brain volume were positively correlated in both groups, and subjects with very low head circumference typically had below-average brain volumes. Conversely, over half of the subjects with very low brain volumes had normal head circumferences, which may stem from differential effects of alcohol on the skeletal and nervous systems. There were no significant correlations between head circumference and any cognitive score. These findings confirm group-level reductions in head circumference and increased rates of microcephaly in children with prenatal alcohol

  14. Conceptions of Prenatal Development: Behavioral Embryology

    ERIC Educational Resources Information Center

    Gottlieb, Gilbert

    1976-01-01

    Describes recent progress in research on prenatal behavioral development and in a systematic fashion the various ways in which prenatal experience can affect the development of behavior in the neonate as well as in the embryo and fetus. (Author/RK)

  15. Prenatal Maternal Stress Programs Infant Stress Regulation

    ERIC Educational Resources Information Center

    Davis, Elysia Poggi; Glynn, Laura M.; Waffarn, Feizal; Sandman, Curt A.

    2011-01-01

    Objective: Prenatal exposure to inappropriate levels of glucocorticoids (GCs) and maternal stress are putative mechanisms for the fetal programming of later health outcomes. The current investigation examined the influence of prenatal maternal cortisol and maternal psychosocial stress on infant physiological and behavioral responses to stress.…

  16. Prenatal alcohol exposure: An assessment strategy for the legal context.

    PubMed

    Brown, Natalie Novick; Burd, Larry; Grant, Therese; Edwards, William; Adler, Richard; Streissguth, Ann

    2015-01-01

    Studies over the last two decades have shown that people with fetal alcohol spectrum disorders (FASD) have the kind of brain damage that increases risk of criminal behavior. Thus, it is generally accepted that FASD is likely to affect a sizable minority of individuals involved in the justice system. Most of these defendants have never been diagnosed because they lack the facial abnormalities and severe intellectual deficiency that would have improved identification and diagnosis in childhood. Despite the fact that an FASD diagnosis and associated cognitive deficits may be directly relevant to offense conduct and post-arrest capacities, screening for prenatal alcohol exposure (PAE) by legal teams remains relatively rare. This article addresses the relatively straightforward screening process with strategies that may be used singly or in combination to produce information that can establish PAE and provide a foundation for diagnostic assessment by medical and mental health experts. PMID:26338492

  17. Prenatal alcohol exposure: An assessment strategy for the legal context.

    PubMed

    Brown, Natalie Novick; Burd, Larry; Grant, Therese; Edwards, William; Adler, Richard; Streissguth, Ann

    2015-01-01

    Studies over the last two decades have shown that people with fetal alcohol spectrum disorders (FASD) have the kind of brain damage that increases risk of criminal behavior. Thus, it is generally accepted that FASD is likely to affect a sizable minority of individuals involved in the justice system. Most of these defendants have never been diagnosed because they lack the facial abnormalities and severe intellectual deficiency that would have improved identification and diagnosis in childhood. Despite the fact that an FASD diagnosis and associated cognitive deficits may be directly relevant to offense conduct and post-arrest capacities, screening for prenatal alcohol exposure (PAE) by legal teams remains relatively rare. This article addresses the relatively straightforward screening process with strategies that may be used singly or in combination to produce information that can establish PAE and provide a foundation for diagnostic assessment by medical and mental health experts.

  18. Postnatal Evaluation and Outcome of Prenatal Hydronephrosis

    PubMed Central

    Sadeghi-Bojd, Simin; Kajbafzadeh, Abdol-Mohammad; Ansari-Moghadam, Alireza; Rashidi, Somaye

    2016-01-01

    Background: Prenatal hydronephrosis (PNH) is dilation in urinary collecting system and is the most frequent neonatal urinary tract abnormality with an incidence of 1% to 5% of all pregnancies. PNH is defined as anteroposterior diameter (APD) of renal pelvis ≥ 4 mm at gestational age (GA) of < 33 weeks and APD ≥ 7 mm at GA of ≥ 33 weeks to 2 months after birth. All patients need to be evaluated after birth by postnatal renal ultrasonography (US). In the vast majority of cases, watchful waiting is the only thing to do; others need medical or surgical therapy. Objectives: There is a direct relationship between APD of renal pelvis and outcome of PNH. Therefore we were to find the best cutoff point APD of renal pelvis which leads to surgical outcome. Patients and Methods: In this retrospective cohort study we followed 200 patients 1 to 60 days old with diagnosis of PNH based on before or after birth ultrasonography; as a prenatal or postnatal detected, respectively. These patients were referred to the nephrology clinic in Zahedan Iran during 2011 to 2013. The first step of investigation was a postnatal renal US, by the same expert radiologist and classifying the patients into 3 groups; normal, mild/moderate and severe. The second step was to perform voiding cystourethrogram (VCUG) for mild/moderate to severe cases at 4 - 6 weeks of life. Tc-diethylene triamine-pentaacetic acid (DTPA) was the last step and for those with normal VCUG who did not show improvement in follow-up examination, US to evaluate obstruction and renal function. Finally all patients with mild/moderate to severe PNH received conservative therapy and surgery was preserved only for progressive cases, obstruction or renal function ≤35%. All patients’ data and radiologic information was recorded in separate data forms, and then analyzed by SPSS (version 22). Results: 200 screened PNH patients with male to female ratio 3.5:1 underwent first postnatal control US, of whom 65% had normal, 18% mild

  19. Imaging and differential diagnosis of suprarenal masses in the fetus.

    PubMed

    Maki, Erik; Oh, Karen; Rogers, Sarah; Sohaey, Roya

    2014-05-01

    Prenatal sonography and magnetic resonance imaging of suprarenal fetal masses is presented, along with clinical information and follow-up. Imaging pearls and differential considerations for each diagnosis will be discussed. Fetal suprarenal mass diagnoses include neuroblastoma, extralobar pulmonary sequestration, congenital adrenal hyperplasia, partial multicystic dysplastic kidney, renal duplication, urinoma, gastric duplication cyst, and splenic cyst. Recognizing the range of malignant and benign suprarenal fetal masses that can present on prenatal imaging can help guide patient counseling and management.

  20. Prenatal microwave exposure and behavior

    SciTech Connect

    O'Connor, M.E.

    1988-01-01

    The hypotheses for the initial investigation was based on the idea that failure to observe structural teratogenesis following microwave exposure did not preclude the possibility that such exposure would result in behavioral changes. We also proposed that such exposure might specifically alter some aspect of thermoregulatory behavior. The results of these studies support both of these hypotheses. Whether the studies show enhanced thermal sensitivity or enhanced development, they do support the hypothesis that prenatal exposure to microwave radiation is more likely to alter postnatal sensitivity to thermally related stimuli or conditions as compared to stimuli that are thermally neutral.

  1. [Diagnosis of Lepore hemoglobinopathy with DNA analysis].

    PubMed

    Lavinha, J; Sampaio, V; da Mata, E

    1992-07-01

    We illustrate the application of recombinant DNA methods (namely Southern blotting) for the genotype diagnosis of haemoglobin Lepore Boston: the use of the restriction endonucleases PstI and XbaI along with a beta globin gene specific probe make it possible to detect a deletion of approximately 7kb which typically characterizes the delta beta Boston gene. The impact of using such methods in the prenatal diagnosis of major haemoglobinopathies is discussed.

  2. Diagnosis and prevention of thalassemia.

    PubMed

    Ip, Ho-Wan; So, Chi-Chiu

    2013-11-01

    Thalassemia is the most common monogenic inherited disease worldwide and it affects most countries to various extents. This review summarizes the current approaches to phenotypic and genotypic diagnosis of thalassemia in clinical practice. Prevention strategies that encompass carrier screening, genetic counseling and prenatal diagnosis are discussed. The importance of public education and an awareness of a changing perception regarding this group of diseases are emphasized. It also addresses the impact of the rapidly increasing knowledge in disease severity modification by hemoglobin F (Hb F).

  3. Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing

    PubMed Central

    Mansfield, Nerida; Boogert, Tom; McLennan, Andrew

    2015-01-01

    Key Clinical message Case report involving a normal female by NIPT with male external genitalia on routine fetal morphology assessment. QF-PCR, CGH microarray, and FISH revealed an unbalanced translocation, involving the short arms of the X and Y chromosomes. This case demonstrates the possible limitations of correctly identifying sex chromosome abnormalities via NIPT. PMID:26509022

  4. A case of ultrasound diagnosis of fetal hiatal hernia in late third trimester of pregnancy.

    PubMed

    Di Francesco, Stefania; Lanna, Mariano Matteo; Napolitano, Marcello; Maestri, Luciano; Faiola, Stefano; Rustico, Mariangela; Ferrazzi, Enrico

    2015-01-01

    Congenital hiatal hernia is a condition characterized by herniation of the abdominal organs, most commonly the stomach, through a physiological but overlax esophageal hiatus into the thoracic cavity. Prenatal diagnosis of this anomaly is unusual and only eight cases have been reported in the literature. In this paper we describe a case of congenital hiatal hernia that was suspected at ultrasound at 39 weeks' gestation, on the basis of a cystic mass in the posterior mediastinum, juxtaposed to the vertebral body. Postnatal upper gastrointestinal tract series confirmed the prenatal diagnosis. Postnatal management was planned with no urgency. Hiatal hernia is not commonly considered in the differential diagnosis of fetal cystic chest anomalies. This rare case documents the importance of prenatal diagnosis of this anomaly for prenatal counseling and postnatal management. PMID:25984374

  5. Prenatal Stress, Prematurity, and Asthma.

    PubMed

    Medsker, Brock; Forno, Erick; Simhan, Hyagriv; Celedón, Juan C

    2015-12-01

    Asthma is the most common chronic disease of childhood, affecting millions of children in the United States and worldwide. Prematurity is a risk factor for asthma, and certain ethnic or racial minorities such as Puerto Ricans and non-Hispanic blacks are disproportionately affected by both prematurity and asthma. In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced "premature asthma." Prenatal stress may cause not only abnormalities in the HPA axis but also epigenetic changes in the fetal glucocorticoid receptor gene (NR3C1), leading to impaired glucocorticoid metabolism. Moreover, maternal stress can alter fetal cytokine balance, favoring TH2 (allergic) immune responses characteristic of atopic asthma: interleukin 6 (IL-6), which has been associated with premature labor, can promote TH2 responses by stimulating production of IL-4 and IL-13. Given a link among stress, prematurity, and asthma, future research should include birth cohorts aimed at confirming and better characterizing "premature asthma." If confirmed, clinical trials of prenatal maternal stress reduction would be warranted to reduce the burden of these common comorbidities. While awaiting the results of such studies, sound policies to prevent domestic and community violence (eg, from firearms) are justified, not only by public safety but also by growing evidence of detrimental effects of violence-induced stress on psychiatric and somatic health. PMID:26676148

  6. Prenatal Stress, Prematurity, and Asthma.

    PubMed

    Medsker, Brock; Forno, Erick; Simhan, Hyagriv; Celedón, Juan C

    2015-12-01

    Asthma is the most common chronic disease of childhood, affecting millions of children in the United States and worldwide. Prematurity is a risk factor for asthma, and certain ethnic or racial minorities such as Puerto Ricans and non-Hispanic blacks are disproportionately affected by both prematurity and asthma. In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced "premature asthma." Prenatal stress may cause not only abnormalities in the HPA axis but also epigenetic changes in the fetal glucocorticoid receptor gene (NR3C1), leading to impaired glucocorticoid metabolism. Moreover, maternal stress can alter fetal cytokine balance, favoring TH2 (allergic) immune responses characteristic of atopic asthma: interleukin 6 (IL-6), which has been associated with premature labor, can promote TH2 responses by stimulating production of IL-4 and IL-13. Given a link among stress, prematurity, and asthma, future research should include birth cohorts aimed at confirming and better characterizing "premature asthma." If confirmed, clinical trials of prenatal maternal stress reduction would be warranted to reduce the burden of these common comorbidities. While awaiting the results of such studies, sound policies to prevent domestic and community violence (eg, from firearms) are justified, not only by public safety but also by growing evidence of detrimental effects of violence-induced stress on psychiatric and somatic health.

  7. Role of ultrasonography with color-Doppler in diagnosis of penile Mondor's disease.

    PubMed

    Dell'Atti, Lucio

    2014-09-01

    Penile Mondor's disease (superficial thrombophlebitis of the penis dorsal vein) is an uncommon and benign pathology that affects sexually active men. Although the diagnosis is made by physical examination in most patients, sonography may be required in some cases. Color-Doppler ultrasonography clearly visualizes dorsal vein thrombosis and the associated hemodynamic alterations. We describe the symptoms, the sonographic findings and treatment of this disease in a 26-year-old male with superficial thrombophlebitis of the penis dorsal vein.

  8. [The application of sonography in the differential diagnosis of space-occupying renal lesions (author's transl)].

    PubMed

    Frommhold, H; Doischwitz, D; Brühl, P

    1976-11-01

    Two dimensional ultrasound echography is a reliable method for demonstrating the topography of retroperitoneal space-occupoing lesions which causes little inconvenience to the patient. This is particularly the case in the upper abdomen, where the differentiation between renal, suprarenal, pancreatic and splenic lesions has been difficult. The criteria for the differential diagnosis of sonographic findings are described and discussed. Echography should be used before invasive methods, particularly angiography, are employed.

  9. Ethical and legal aspects of noninvasive prenatal genetic diagnosis.

    PubMed

    Dickens, Bernard M

    2014-02-01

    The new technology that will allow genetic testing of a fetus within the first trimester of pregnancy by isolating cell-free fetal DNA (cffDNA) in the mother's blood raises a range of ethical and legal issues. Considered noninvasive, this test is safe and reliable, and may avoid alternative genetic testing by amniocentesis or chorionic villus sampling, which risks causing spontaneous abortion. Ethical and legal issues of cffDNA testing will become more acute if testing expands to fetal whole-genome sequencing. Critical issues include the state of the science or diagnostic art; the appropriateness of offering the test; the implications of denying the test when it is available and appropriate; disclosure and counseling following test results; and management of patients' choices on acquiring test results. A challenge will be providing patients with appropriate counseling based on up-to-date genetic knowledge, and accommodating informed patients' legal choices.

  10. α-Thalassemia with Haemoglobin Adana mutation: prenatal diagnosis.

    PubMed

    Zainal, N Z; Alauddin, H; Ahmad, S; Hussin, N H

    2014-12-01

    Thalassaemia carriers are common in the Asian region including Malaysia. Asymptomatic patients can be undiagnosed until they present for their antenatal visits. Devastating obstetric outcome may further complicate the pregnancy if both parents are thalassaemia carriers leading to hydrophic fetus due to haemoglobin Bart's disease. However in certain cases where unexplained hydrops fetalis occur in parents with heterozygous thalassaemia carrier,mutated α genes should be suspected. We report a twenty-nine year old woman in her third pregnancy with two previous pregnancies complicated by early neonatal death at 21 and 28 weeks of gestation due to hydrops fetalis. DNA analysis revealed the patient to have heterozygous (--SEA) α-gene deletion, while her husband has a compound heterozygosity for α(3.7) deletion and codon 59 (GGC → GAC) mutation of the α-gene. This mutation, also known as hemoglobin Adana, can explain hydrops fetalis resulting from two alpha gene deletions from the patient (mother) and a single alpha gene deletion with mutation from the father. The third pregnancy resulted in a grossly normal baby boy with 3 α-gene deletions (HbH disease). We postulate that, in view of heterogenisity of the α-thalassaemia in this patient with severely unstable haemoglobin Adana chains from her husband, there will be a 25% possibility of fetal hydrops in every pregnancy. PMID:25500521

  11. [Complex Congenital Heart Disease: The Influence of Prenatal Diagnosis].

    PubMed

    Correia, Marta; Fortunato, Fabiana; Martins, Duarte; Teixeira, Ana; Nogueira, Graça; Menezes, Isabel; Anjos, Rui

    2015-01-01

    Introdução: As cardiopatias congénitas complexas são patologias graves, e o diagnóstico pré-natal poderá ter implicações sobre a morbilidade e a mortalidade. O objetivo deste trabalho foi estudar a influência do diagnóstico pré-natal e da distância do local de parto a um centro de referência, na morbilidade imediata e mortalidade precoce de um grupo de doentes com cardiopatias congénitas complexas.Material e Métodos: Análise retrospetiva dos doentes com cardiopatias congénitas complexas, seguidos no nosso hospital, nascidos entre 2007 e 2012.Resultados: Identificaram-se 126 doentes com cardiopatias congénitas complexas. Em 95% a gravidez foi vigiada desde o primeiro trimestre existindo diagnóstico pré-natal em 42%. Houve relação estatisticamente significativa entre o local do parto e a existência de diagnóstico pré-natal. A cardiopatia congénita complexa mais frequente foi a transposição das grandes artérias (45,2%), seguida da atresia da pulmonar com comunicação interventricular (17,5%) e ventrículo esquerdo hipoplásico (9,5%). Oitenta e dois doentes (65,1%) foram medicados com prostaglandinas e 38 (30,2%) foram ventilados antes de uma intervenção. A cirurgia ocorreu no período neonatal em 73%. A sobrevida atuarial aos 30 dias, 12 e 24 meses foi 85%, 80% e 75%, respetivamente. Não houve relação estatisticamente significativa entre diagnóstico pré-natal e mortalidade.Discussão: A maioria dos doentes com cardiopatias congénitas complexas não teve diagnóstico pré-natal. Nos casos com diagnóstico pré-natal houve referenciação e parto num centro terciário. Não houve associação estatisticamente significativa entre diagnóstico prénatal e mortalidade neonatal, como já descrito em séries heterogéneas de cardiopatia congénita complexa.Conclusão: A maioria dos doentes com cardiopatias congénitas complexas não teve diagnóstico pré-natal. Estes dados devem ser tomados em conta no planeamento do diagnóstico pré-natal das cardiopatias congénitas.

  12. [Prenatal diagnosis by ultrasonography. A randomized study of 3000 patients].

    PubMed

    García Roig, F; Hicks Gomez, J J

    1991-11-01

    From January through December, 1990 at Hospital de Ginecoobstetricia Tlatelolco, 3,000 pregnant women were subjected to ultrasonography at random using a real time, B mode apparatus with a 3.5 MHz lineal transducer. Fetal malformation were diagnosed, some of which would have passed undetected in the labor room with consequent delay of treatment and false raise of perinatal morbidity and mortality rates.

  13. The prenatal care at school program.

    PubMed

    Griswold, Carol H; Nasso, Jacqueline T; Swider, Susan; Ellison, Brenda R; Griswold, Daniel L; Brooks, Marilyn

    2013-06-01

    School absenteeism and poor compliance with prenatal appointments are concerns for pregnant teens. The Prenatal Care at School (PAS) program is a new model of prenatal care involving local health care providers and school personnel to reduce the need for students to leave school for prenatal care. The program combines prenatal care and education designed specifically for adolescents. Twenty-eight girls attended PAS in the fall of 2010. Program evaluation results showed a 14.2% increase in school attendance among students enrolled compared to peers enrolled the previous year, a 5.7% increase over a local teen clinic's attendance to their group prenatal care program, and a 42% increase in pregnancy and childbirth knowledge. Satisfaction surveys indicated that participants all believed that PAS helped prepare them for labor and delivery and 92% felt encouraged to stay in school. This pilot program benefited pregnant teens by increasing school educational time, improving preparation for labor and delivery, and increasing participation with prenatal care. PMID:23144051

  14. Systematic approach to sonographic evaluation of the pelvis in women with suspected endometriosis, including terms, definitions and measurements: a consensus opinion from the International Deep Endometriosis Analysis (IDEA) group.

    PubMed

    Guerriero, S; Condous, G; van den Bosch, T; Valentin, L; Leone, F P G; Van Schoubroeck, D; Exacoustos, C; Installé, A J F; Martins, W P; Abrao, M S; Hudelist, G; Bazot, M; Alcazar, J L; Gonçalves, M O; Pascual, M A; Ajossa, S; Savelli, L; Dunham, R; Reid, S; Menakaya, U; Bourne, T; Ferrero, S; Leon, M; Bignardi, T; Holland, T; Jurkovic, D; Benacerraf, B; Osuga, Y; Somigliana, E; Timmerman, D

    2016-09-01

    The IDEA (International Deep Endometriosis Analysis group) statement is a consensus opinion on terms, definitions and measurements that may be used to describe the sonographic features of the different phenotypes of endometriosis. Currently, it is difficult to compare results between published studies because authors use different terms when describing the same structures and anatomical locations. We hope that the terms and definitions suggested herein will be adopted in centers around the world. This would result in consistent use of nomenclature when describing the ultrasound location and extent of endometriosis. We believe that the standardization of terminology will allow meaningful comparisons between future studies in women with an ultrasound diagnosis of endometriosis and should facilitate multicenter research. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

  15. Systematic approach to sonographic evaluation of the pelvis in women with suspected endometriosis, including terms, definitions and measurements: a consensus opinion from the International Deep Endometriosis Analysis (IDEA) group.

    PubMed

    Guerriero, S; Condous, G; van den Bosch, T; Valentin, L; Leone, F P G; Van Schoubroeck, D; Exacoustos, C; Installé, A J F; Martins, W P; Abrao, M S; Hudelist, G; Bazot, M; Alcazar, J L; Gonçalves, M O; Pascual, M A; Ajossa, S; Savelli, L; Dunham, R; Reid, S; Menakaya, U; Bourne, T; Ferrero, S; Leon, M; Bignardi, T; Holland, T; Jurkovic, D; Benacerraf, B; Osuga, Y; Somigliana, E; Timmerman, D

    2016-09-01

    The IDEA (International Deep Endometriosis Analysis group) statement is a consensus opinion on terms, definitions and measurements that may be used to describe the sonographic features of the different phenotypes of endometriosis. Currently, it is difficult to compare results between published studies because authors use different terms when describing the same structures and anatomical locations. We hope that the terms and definitions suggested herein will be adopted in centers around the world. This would result in consistent use of nomenclature when describing the ultrasound location and extent of endometriosis. We believe that the standardization of terminology will allow meaningful comparisons between future studies in women with an ultrasound diagnosis of endometriosis and should facilitate multicenter research. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. PMID:27349699

  16. Sonographically-guided extracorporeal shockwave lithotripsy for pancreatic stones in patients with chronic pancreatitis.

    PubMed

    Schreiber, F; Gurakuqi, G C; Pristautz, H; Trauner, M; Schnedl, W

    1996-03-01

    Over a 2 year period, 10 patients with pancreatic stones due to alcohol induced chronic pancreatitis (proven by endoscopic retrograde pancreatography) underwent extracorporeal shockwave lithotripsy. Prior to shockwave therapy, all patients underwent endoscopic sphincterotomy. Targeting of shockwave lithotripsy was exclusively performed under sonographic control. All patients were treated with a second generation electrohydraulic spark gap lithotriptor and fragmentation of concrements could be achieved in all cases. Complete duct clearance was confirmed in seven patients by endoscopic retrograde pancreatography in one session, with endoscopic fragment extraction by basket and/or balloon catheter. In three patients, balloon dilation of concomitant strictures located in the head of the pancreas was performed prior to fragment extraction. All stone-free patients showed no further symptoms over the follow-up period of 12 months. Three patients in whom complete extraction of fragments was not successful experienced minor symptoms over the 12 month follow-up period.

  17. Sonographic Tracking of the Lower Limb Peripheral Nerves: A Pictorial Essay and Video Demonstration.

    PubMed

    Hung, Chen-Yu; Hsiao, Ming-Yen; Özçakar, Levent; Chang, Ke-Vin; Wu, Chueh-Hung; Wang, Tyng-Guey; Chen, Wen-Shiang

    2016-09-01

    Compared with the upper limbs, sonographic tracking of peripheral nerves in the lower limbs is more challenging. The overlying muscles are larger, hindering visualization of the deeply embedded nerves by using a linear transducer. The use of a curvilinear transducer-providing an extended view with better penetration for the field of interest-may be useful for scanning the nerves in the hip and thigh. Application of the Doppler mode helps localization of the target nerve by identifying the accompanying vessels. Aiming to demonstrate the relevant tracking techniques, the present article comprises a series of ultrasound images and videos showing how to scan the nerves in the lower limb, that is, femoral, obturator, pudendal, lateral femoral cutaneous, sciatic, saphenous, sural, tibial, and peroneal nerves.

  18. Transvaginal sonographically controlled ovarian puncture for oocyte retrieval for in vitro fertilization.

    PubMed

    Cohen, J; Debache, C; Pez, J P; Junca, A M; Cohen-Bacrie, P

    1986-10-01

    Two hundred twenty-two patients took part in a trial of follicle puncture via the transvaginal route under sonographic control for the purpose of in vitro fertilization (IVF). Induction protocols were mainly human menopausal gonadotropin (hMG) + human chorionic gonadotropin (hCG) and clomiphene + hMC + hCG. In 79.7% oocyte aspiration could be achieved without difficulty via the transvaginal route. An average number of 4.7 oocytes per attempt was obtained; 10.7% evolutive pregnancies were obtained. No major incident was noted. This technique offers several crucial advantages: it reduces surgical risk, reduces the length of the patient's stay in hospital as well as the overall cost of the procedure, and it also makes possible puncture in some cases hitherto regarded as excluded. PMID:3537171

  19. Cava-suprarenal line: new position for sonographic imaging of left adrenal gland.

    PubMed

    Krebs, C A; Eisenberg, R L; Ratcliff, S; Jouppi, L

    1986-09-01

    Because of overlying attenuating structures, sonographic imaging of the left adrenal gland is often difficult, especially in obese or pediatric patients. In a series of 50 consecutive patients, the left adrenal glands were examined in both the conventional right posterior oblique (RPO) position and using the new cava-suprarenal line (CSL) position. The CSL position permitted identification of the left adrenal gland in 90% of the patients; in contrast, the gland could be demonstrated in only 60% of the patients using the conventional RPO position. With the CSL position, the left adrenal gland could be imaged in half the time required with the conventional RPO position. The improved ability to demonstrate the left adrenal gland as well as the reduction in the required scanning time was particularly marked in obese and pediatric patients.

  20. Fanconi Anemia and its Diagnosis

    PubMed Central

    Auerbach, Arleen D.

    2009-01-01

    Fanconi anemia (FA) is a genetically and phenotypically heterogeneous recessive disorder characterized by diverse congenital malformations, progressive pancytopenia, and predisposition to both hematologic malignancies and solid tumors. Congenital anomalies vary from patient to patient and may affect skeletal morphogenesis as well as any of the major organ systems. Although this highly variable phenotype makes accurate diagnosis on the basis of clinical manifestations difficult in some patients, laboratory study of chromosomal breakage induced by diepoxybutane (DEB) or other crosslinking agents provides a unique cellular marker for the diagnosis of the disorder either prenatally or postnatally. Diagnosis based on abnormal response to DNA crosslinking agents can be used to identify the pre-anemia patient as well as patients with aplastic anemia or leukemia who may or may not have the physical stigmata associated with the syndrome. This overview will present our present knowledge regarding the varied phenotypic manifestations of FA and procedures for diagnosis based upon abnormal DNA damage responses. PMID:19622403