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Sample records for accurate prenatal diagnosis

  1. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA

    PubMed Central

    Chitty, Lyn S; Khalil, Asma; Barrett, Angela N; Pajkrt, Eva; Griffin, David R; Cole, Tim J

    2013-01-01

    Objective To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. Methods Fetuses with a confirmed diagnosis of thanatophoric dysplasia were ascertained, records reviewed, sonographic features and measurements determined. Charts of fetal size were then constructed using the LMS (lambda-mu-sigma) method and compared with charts used in normal pregnancies and those complicated by achondroplasia. Cases in this cohort referred to our Regional Genetics Laboratory for molecular diagnosis using cffDNA were identified and results reviewed. Results Forty-two cases were scanned in our units. Commonly reported sonographic features were very short and sometimes bowed femora, frontal bossing, cloverleaf skull, short fingers, a small chest and polyhydramnios. Limb shortening was obvious from as early as 13 weeks' gestation, with minimal growth after 20 weeks. Analysis of cffDNA in three of these pregnancies confirmed the presence of the c.742C>CT (p.Arg248Cys) or the c.1948A>AG (p.Lys650Glu) mutation in the fibroblast growth factor receptor 3 gene. Conclusion These data should improve the accuracy of the sonographic diagnosis of thanatophoric dysplasia and have implications for reliable and safe targeted molecular confirmation using cffDNA. © 2013 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. PMID:23408600

  2. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

    PubMed Central

    Chitty, Lyn S; Mason, Sarah; Barrett, Angela N; McKay, Fiona; Lench, Nicholas; Daley, Rebecca; Jenkins, Lucy A

    2015-01-01

    Abstract Objective Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders. Methods Analysis of cell-free DNA using a PCR and restriction enzyme digest (PCR–RED) was compared with a novel NGS assay in pregnancies at risk of achondroplasia and thanatophoric dysplasia. Results PCR–RED was performed in 72 cases and was correct in 88.6%, inconclusive in 7% with one false negative. NGS was performed in 47 cases and was accurate in 96.2% with no inconclusives. Both approaches were used in 27 cases, with NGS giving the correct result in the two cases inconclusive with PCR–RED. Conclusion NGS provides an accurate, flexible approach to non-invasive prenatal diagnosis of de novo and paternally inherited mutations. It is more sensitive than PCR–RED and is ideal when screening a gene with multiple potential pathogenic mutations. These findings highlight the value of NGS in the development of non-invasive prenatal diagnosis for other monogenic disorders. © 2015 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. What's already known about this topic? Non-invasive prenatal diagnosis (NIPD) using PCR-based methods has been reported for the detection or exclusion of individual paternally inherited or de novo alleles in maternal plasma. What does this study add? NIPD using next generation sequencing provides an accurate, more sensitive approach which can be used to detect multiple mutations in a single assay and so is ideal when screening a gene with multiple potential pathogenic mutations. Next generation sequencing thus provides a flexible approach to non-invasive prenatal diagnosis ideal for use in a busy service laboratory. PMID:25728633

  3. 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

  4. Errors in prenatal diagnosis.

    PubMed

    Anumba, Dilly O C

    2013-08-01

    Prenatal screening and diagnosis are integral to antenatal care worldwide. Prospective parents are offered screening for common fetal chromosomal and structural congenital malformations. In most developed countries, prenatal screening is routinely offered in a package that includes ultrasound scan of the fetus and the assay in maternal blood of biochemical markers of aneuploidy. Mistakes can arise at any point of the care pathway for fetal screening and diagnosis, and may involve individual or corporate systemic or latent errors. Special clinical circumstances, such as maternal size, fetal position, and multiple pregnancy, contribute to the complexities of prenatal diagnosis and to the chance of error. Clinical interventions may lead to adverse outcomes not caused by operator error. In this review I discuss the scope of the errors in prenatal diagnosis, and highlight strategies for their prevention and diagnosis, as well as identify areas for further research and study to enhance patient safety. PMID:23725900

  5. Noninvasive prenatal diagnosis.

    PubMed

    Cheng, Wei-Lun; Hsiao, Ching-Hua; Tseng, Hua-Wei; Lee, Tai-Ping

    2015-08-01

    Prenatal examination plays an important role in present medical diagnosis. It provides information on fetal health status as well as the diagnosis of fetal treatment feasibility. The diagnosis can provide peace of mind for the perspective mother. Timely pregnancy termination diagnosis can also be determined if required. Amniocentesis and chorionic villus sampling are two widely used invasive prenatal diagnostic procedures. To obtain complete fetal genetic information and avoid endangering the fetus, noninvasive prenatal diagnosis has become the vital goal of prenatal diagnosis. However, the development of a high-efficiency separation technology is required to obtain the scarce fetal cells from maternal circulation. In recent years, the rapid development of microfluidic systems has provided an effective method for fetal cell separation. Advantages such as rapid analysis of small samples, low cost, and various designs, greatly enhance the efficiency and convenience of using microfluidic systems for cell separation. In addition, microfluidic disks can be fully automated for high throughput of rare cell selection from blood samples. Therefore, the development of microfluidic applications in noninvasive prenatal diagnosis is unlimited. PMID:26384048

  6. 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.

  7. 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.

  8. Prenatal diagnosis and obstetric management.

    PubMed

    O'Brien, Pat; Nugent, Mae; Khalil, Asma

    2015-10-01

    Conjoined twins are rare, representing 1 in 50,000 to 1 in 200,000 live births, and the prognosis is generally poor. Accurate prenatal diagnosis by an experienced multidisciplinary team using a combination of imaging modalities allows parents to make fully informed choices. This may include termination of pregnancy, which is easier and safer at the earlier gestations at which diagnosis is now being made; continuing with the pregnancy but accepting that only palliative care is appropriate after birth; or planned intensive care and separation of the twins after birth. Delivery will invariably be by cesarean section in order to minimize the risk of peripartum harm to both mother and babies. PMID:26382256

  9. Implementing Prenatal Diagnosis Based on Cell-Free Fetal DNA: Accurate Identification of Factors Affecting Fetal DNA Yield

    PubMed Central

    Barrett, Angela N.; Zimmermann, Bernhard G.; Wang, Darrell; Holloway, Andrew; Chitty, Lyn S.

    2011-01-01

    Objective Cell-free fetal DNA is a source of fetal genetic material that can be used for non-invasive prenatal diagnosis. Usually constituting less than 10% of the total cell free DNA in maternal plasma, the majority is maternal in origin. Optimizing conditions for maximizing yield of cell-free fetal DNA will be crucial for effective implementation of testing. We explore factors influencing yield of fetal DNA from maternal blood samples, including assessment of collection tubes containing cell-stabilizing agents, storage temperature, interval to sample processing and DNA extraction method used. Methods Microfluidic digital PCR was performed to precisely quantify male (fetal) DNA, total DNA and long DNA fragments (indicative of maternal cellular DNA). Real-time qPCR was used to assay for the presence of male SRY signal in samples. Results Total cell-free DNA quantity increased significantly with time in samples stored in K3EDTA tubes, but only minimally in cell stabilizing tubes. This increase was solely due to the presence of additional long fragment DNA, with no change in quantity of fetal or short DNA, resulting in a significant decrease in proportion of cell-free fetal DNA over time. Storage at 4°C did not prevent these changes. Conclusion When samples can be processed within eight hours of blood draw, K3EDTA tubes can be used. Prolonged transfer times in K3EDTA tubes should be avoided as the proportion of fetal DNA present decreases significantly; in these situations the use of cell stabilising tubes is preferable. The DNA extraction kit used may influence success rate of diagnostic tests. PMID:21998643

  10. 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

  11. 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

  12. Prenatal diagnosis of cloacal anomaly.

    PubMed

    Cacciaguerra, S; Lo Presti, L; Di Leo, L; Grasso, S; Gangarossa, S; Di Benedetto, V; Di Benedetto, A

    1998-02-01

    The authors present a case of prenatal diagnosis of cloacal anomaly, characterized by the presence of oligohydramnios and cystic pelvic mass with changing features during observation. Postnatal study confirmed the presence of a recto-cloacal fistula, with a high confluence of the urinary, genital and intestinal systems. Both parents had a chromosome 9 inversion (p11q13), but the child was chromosomally normal. PMID:9561584

  13. 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

  14. 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

  15. 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

  16. Prenatal diagnosis of central nervous system abnormalities.

    PubMed

    Angtuaco, E E; Angtuaco, T L; Angtuaco, E J

    1994-01-01

    Fetal anomalies have been the subject of innumerable publications both in the prenatal and neonatal literature. This has significantly increased in the last 10 years, mainly because of the advent of high-resolution ultrasound equipment and improvement of scanning techniques. In addition, guidelines issued by professional organizations involved in prenatal diagnosis have encouraged a more universal approach to the imaging and documentation of prenatal findings. The fetal central nervous system is the most frequently investigated organ system, mainly because of its easy accessibility and prominence even in the early stages of embryologic development. The biparietal diameter was the first fetal measurement to be widely used in determining gestational age. As investigators gained more experience, the appearance of ultrasound images achieved the resolution that allows direct comparisons with gross specimens and more recent sophisticated techniques of computed tomography and magnetic resonance imaging. Now endovaginal ultrasound can document early first trimester development and compare it to known embryologic landmarks. Interest in demonstrating the ultrasound counterpart of central nervous system structures in the early stages of development has resulted in a plethora of articles proving the unique ability of ultrasound in imaging the developing fetus. In view of all these developments, the beginning ultrasound specialist is faced with the challenge and responsibility not only of being familiar with the literature but also of the mastery of scanning techniques that allow accurate prenatal diagnosis. It is therefore helpful to review key developmental milestones in embryologic life and correlate them with the corresponding prenatal ultrasound appearance. In addition, the changing appearance of the developing fetus has created a need for a systematic approach in the evaluation of structures so routine protocols can be established. This has been the subject of other

  17. Prenatal Diagnosis of Congenital Dermal Sinus

    PubMed Central

    Sakr, Sharif; Mohan, Yedathore; Malik, Asif; Malik, Ghaus; Gonik, Bernard

    2015-01-01

    Background Congenital dermal sinus (CDS) is an uncommon form of spinal dysraphism. Although postdelivery identification in the neonate is aided by several associated physical examination findings, establishing this diagnosis prenatally has proven to be elusive. Case Report We present a case of CDS where the prenatal findings at 20 weeks gestation led to the diagnosis, which was confirmed postnatally. The associated protrusion of fibrotic membranes through the sinus tract helped in the identification of this lesion prenatally, but created confusion with a more common type of lesion, an open neural tube defect. This is the first case report in the literature describing prenatal diagnosis of fetal CDS. Conclusion Prenatal diagnosis with postnatal confirmation of CDS leads to early intervention, better long-term outcomes, and lesser complications. PMID:26199797

  18. 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 ...

  19. 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.

  20. 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.

  1. Informatics-based, highly accurate, noninvasive prenatal paternity testing

    PubMed Central

    Ryan, Allison; Baner, Johan; Demko, Zachary; Hill, Matthew; Sigurjonsson, Styrmir; Baird, Michael L.; Rabinowitz, Matthew

    2013-01-01

    Purpose: The aim of the study was to evaluate the diagnostic accuracy of an informatics-based, noninvasive, prenatal paternity test using array-based single-nucleotide polymorphism measurements of cell-free DNA isolated from maternal plasma. Methods: Blood samples were taken from 21 adult pregnant women (with gestational ages between 6 and 21 weeks), and a genetic sample was taken from the corresponding biological fathers. Paternity was confirmed by genetic testing of the infant, products of conception, control of fertilization, and/or preimplantation genetic diagnosis during in vitro fertilization. Parental DNA samples and maternal plasma cell-free DNA were amplified and analyzed using a HumanCytoSNP-12 array. An informatics-based method measured single-nucleotide polymorphism data, confirming or rejecting paternity. Each plasma sample with a sufficient fetal cell-free DNA fraction was independently tested against the confirmed father and 1,820 random, unrelated males. Results: One of the 21 samples had insufficient fetal cell-free DNA. The test correctly confirmed paternity for the remaining 20 samples (100%) when tested against the biological father, with P values of <10−4. For the 36,400 tests using an unrelated male as the alleged father, 99.95% (36,382) correctly excluded paternity and 0.05% (18) were indeterminate. There were no miscalls. Conclusion: A noninvasive paternity test using informatics-based analysis of single-nucleotide polymorphism array measurements accurately determined paternity early in pregnancy. PMID:23258349

  2. 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

  3. Prenatal diagnosis of dicephalic parapagus conjoined twins.

    PubMed

    Camuzcuoglu, Hakan; Toy, Harun; Vural, Mehmet; Cece, Hasan; Aydin, Halef

    2010-03-01

    Dicephalic parapagus is a rare anomaly of monochorionic twinning. We present prenatal diagnosis of this anomaly with ultrasonography and magnetic resonance imaging. She was at the 19th week of gestation. Even if earlier diagnosis is possible, this was her first examination unfortunately. Baby had two head and a common trunk. This is one of the rarest twinning. Termination of pregnancy is performed and baby is delivered by cesarean section. Imaging findings of the case are illustrated and discussed with the autopsy findings. PMID:19714344

  4. 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

  5. Magnetic resonance imaging for prenatal diagnosis of multisystem disease: megacystis microcolon intestinal hypoperistalsis syndrome.

    PubMed

    Munch, Erika M S; Cisek, Lawrence J; Roth, David R

    2009-09-01

    We discuss a third-trimester diagnosis of Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) using magnetic resonance imaging (MRI) and consider the benefits of MRI as a noninvasive imaging technique after routine ultrasonography reveals genitourinary pathology requiring further elucidation. MMIHS is a rare cause of functional gastrointestinal and genitourinary obstruction in newborns. Because of the poor prognosis of MMIHS, prenatal diagnosis is warranted for optimal prenatal counseling and postnatal treatment. Although MMIHS commonly presents on ultrasonography, the limitations of ultrasonography make definitive diagnosis difficult. However, MRI is safe, accurate, and can be used for early prenatal diagnoses of multisystem diseases. PMID:19501881

  6. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

    PubMed

    Khattab, Ahmed; Yuen, Tony; Sun, Li; Yau, Mabel; Barhan, Ariella; Zaidi, Mone; Lo, Y M Dennis; New, Maria I

    2016-01-01

    A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administration of low-dose dexamethasone initiated before the 9th week of gestation. In 7 of 8 at-risk pregnancies, the unaffected fetus is unnecessarily exposed to dexamethasone for weeks until the diagnosis of classical CAH is ruled out by invasive procedures. This therapeutic dilemma calls for early prenatal diagnosis so that dexamethasone treatment can be directed to affected female fetuses only. We describe the utilization of cell-free fetal DNA in mothers carrying at-risk fetuses as early as 6 gestational weeks by targeted massively parallel sequencing of the genomic region including and flanking the CYP21A2 gene. Our highly personalized and innovative approach should permit the diagnosis of CAH before genital development begins, therefore restricting the purposeful administration of dexamethasone to mothers carrying affected females. PMID:26683339

  7. Prenatal sonographic diagnosis of congenital varicella syndrome.

    PubMed

    Tongsong, Theera; Srisupundit, Kasemsri; Traisrisilp, Kuntharee

    2012-01-01

    Congenital varicella syndrome is a rare disorder occurring in less than 1% of maternal varicella during early pregnancy but is associated with high fetal morbidity and mortality. This case report aimed to describe the sonographic features of congenital varicella syndrome following maternal varicella. Well-documented maternal chicken pox was made at 12 weeks of gestation and prenatal ultrasound was performed at 16 weeks. Striking sonographic features included hydropic changes and disseminated calcifications in multiple organs, especially liver and myocardium. Elective termination of pregnancy was done at 17 weeks. The presence of disseminated calcifications could suggest the diagnosis of congenital varicella syndrome. PMID:22323269

  8. Advances in prenatal diagnosis and treatment of congenital diaphragmatic hernia.

    PubMed

    Shue, Eveline H; Miniati, Doug; Lee, Hanmin

    2012-06-01

    Congenital diaphragmatic hernia (CDH) is a common birth anomaly. Absence or presence of liver herniation and determination of lung-to-head ratio are the most accurate predictors of prognosis for fetuses with CDH. Though open fetal CDH repair has been abandoned, fetal endoscopic balloon tracheal occlusion promotes lung growth in fetuses with severe CDH. Although significant improvements in lung function have not yet been shown in humans, reversible or dynamic tracheal occlusion is promising for select fetuses with severe CDH. This article reviews advances in prenatal diagnosis of CDH, the experimental basis for tracheal occlusion, and its translation into human clinical trials. PMID:22682380

  9. 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

  10. 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

  11. Prenatal diagnosis of congenital renal and urinary tract malformations.

    PubMed

    Hindryckx, A; De Catte, L

    2011-01-01

    Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified -malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and -requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the normal sonographic appearance through-out pregnancy and the prenatal diagnosis of their congenital malformations. PMID:24753862

  12. Making the most of uncertainty: Treasuring exceptions in prenatal diagnosis.

    PubMed

    Hogan, Andrew J

    2016-06-01

    Throughout the 20th century, human genetics research was driven by the identification of new variants. As pioneering geneticist William Bateson put it, novel variants were "exceptions" to "treasure". With the rise of human chromosomal analysis in the postwar period, the identification of genetic variants became increasingly significant to clinical and prenatal diagnosis. Human geneticists had long sought a broader sampling of human genetic variation, from a largely "normal" population. The expansion of prenatal diagnosis in the late 20th century offered a new resource for identifying novel genetic variants. In the prenatal diagnostic setting however, many of the exceptions to be treasured were of uncertain clinical significance, which raised anxiety among parents. In the early 1990s, providers reported that specific uncertain results from chorionic villus sampling (CVS) facilitated prenatal diagnoses that were not previously possible. Based on this, some prenatal diagnostic providers began to embrace uncertainty, when properly managed to reduce anxiety, rather than prevent it. The potential to produce uncertainty in prenatal diagnosis grew with whole genome microarray in the 2000s. Rather than outcomes to avoid, or accept as inevitable, providers presented uncertain results as starting points for research to improve the scope prenatal diagnosis, and bring future certainty. PMID:27010571

  13. [Scientific and practical aspects of prenatal diagnosis].

    PubMed

    Baranov, V S

    2003-01-01

    Prenatal diagnostics (PD) is a relatively new branch of medical genetics enjoining presently a rapid practical and scientific progress. The key practical issues related with detecting the pregnant women at high risk of fetal congenital and inherited pathologies have already been solved, and a variety of fetal examinations by non-invasive (ultrasound) and invasive (cytogenetics, biochemistry and molecular tests) methods have been elaborated. Their practical application are totally dependant on the managerial and financial input in the discussed field of medicine. Further advancement in PD are tensely associated with early pregnancy stages (trimester 1), with the molecular diagnostic tools in the diagnosis of chromosomal diseases and with a comprehensive use of Pregnancy Genetic Form worked out and used already at our institute. DP opens up the promising opportunities for analyzing the human genome activity at the initial development stages, which comprises the revision of previously-obtained data on the cytogenetics of human embryo evolution, human chromosomes' functioning and of temporary embryonic organs as observed during the mentioned stages; it also comprises an analysis and application of umbilical and embryonic cells (embryonic cell therapy) and elaboration of scientific fundamentals for embryonic gene therapy. PD should not be referred to only as a set of diagnostic methods for it is also a good starting-ground for research of human embryo-genesis. PMID:14598504

  14. [Prenatal diagnosis. Review, personal and prospective studies].

    PubMed

    Engel, E; Empson, J; DeLozier, D; McGee, B; da Costa Woodson, E; Engel-de Montmollin, M; Carter, T; Lorber, C; Cassidy, S B; Millis, J; Heller, R M; Boehm, F; Vanhooydonk, J

    1979-07-01

    1. In a review of methods developed for the identification of fetal malformations, the technique, risks and results of amniocentesis are presented. 2. Large series already published have demonstrated the relative simplicity and feasibility of the procedure as well as current indications for its utilization. These include the detection of chromosomal anomalies, the determination of sex (in certain sex-linked disorders), documentation of enzymatic and metabolic deficiencies, and the demonstration of open lesions of the neural tube by appropriate techniques. 3. Experience with over 500 cases personally tested by the authors entirely confirms the major indications for and benefits of this modern method for the detection and prevention of severe congenital anomalies during early pregnancy. 4. The identification of chromosomal alterations is currently the major objective of the method. Increased risks are associated with pregnancies involving a maternal age of 35 years or older (which account for 1-3% of aneuploidies), the birth of a previous infant with free trisomy 21 (1% recurrence risk) or secondary to a parental chromosome translocation (as much as 10% risk of aneuploidy). Fetal karyotyping for determination of sex, in cases where the mother is a carrier of an X-linked recessive gene (on average, 50% of male offspring will be affected), is an inadequate method of diagnosis to be utilized only until alternative techniques render possible specific diagnosis of the anomalies under consideration (hemophilias A and B, muscular dystrophy, etc). 5. Several of these techniques are now nearing development through the advent of fetoscopy and advanced ultrasound methodology, and have already been applied to the detection of certain sex-linked disorders and also for diagnosis of hemoglobinopathies (thalassemias, sickel cell anemia) and other conditions requiring the obtaining of fetal blood for diagnosis. Technology allowing direct examination of fetal parts by means of optical

  15. Sonographic prenatal diagnosis of intracranial fetus in fetu.

    PubMed

    Ianniruberto, A; Rossi, P; Ianniruberto, M; Rella, G; Ciminelli, V

    2001-07-01

    A case of sonographic prenatal diagnosis of a complex intracranial mass, with features of a fetus in fetu at 17 weeks' gestation, is reported. This diagnosis is reserved for a highly organized tumor containing a vertebral column and recognizable fetal parts and should be differentiated from a teratoma. PMID:11489229

  16. Prenatal diagnosis of a paraurethral cyst.

    PubMed

    Johnson, Clark T; Millard, Sarah E; Wang, Ming-Hsien; Ehsanipoor, Robert M

    2013-02-01

    Paraurethral cysts arising from Skene's gland are a rare cause of urogenital masses in the neonate. We report the case of a pelvic mass noted at the vaginal introitus on prenatal ultrasound that following delivery was found to be a paraurethral cyst. On prenatal ultrasound, there was no evidence of involvement of the urinary, gastrointestinal, or upper genital tract. Serial ultrasounds demonstrated slight enlargement of the cyst without other changes. The patient delivered at 33 weeks and postnatal evaluation demonstrated a paraurethral cyst. The cyst was managed expectantly and drained spontaneously on the second day of life with complete resolution. PMID:23146295

  17. Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography

    PubMed Central

    Ermito, Santina; Dinatale, Angela; Carrara, Sabina; Cavaliere, Alessandro; Imbruglia, Laura; Recupero, Stefania

    2009-01-01

    Fetal ultrasonografy is the most important tool to provide prenatal diagnosis of fetal anomalies. The detection of limb abnormalities may be a complex problem if the correct diagnostic approch is not established. A careful description of the abnormality using the rigth nomenclature is the first step. Looking for other associated abnormalities is the threshold to suspect chromosomal abnormalities or single gene disorder. According to the patogenic point of view, limb abnormalities may be the result of malformation, deformation, or disruption. The prenatal diagnosis and the management of limb abnormalities involve a multidisciplinary team of ostetrician, radiologist/sonologist, clinical geneticist, neonatologist, and orthopedic surgeons to provide the parents with the information regarding etiology of the disorder, prognosis, option related to the pregnancy and recurrence risk for future pregnancies. The aim of this review is to describe the importance of detailed fetal ultrasonography in prenatal diagnosis of limb abnormalities. PMID:22439035

  18. 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

  19. Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage†

    PubMed Central

    Court, Samantha; Cleary, Siobhan; Clokie, Samuel; Hewitt, Julie; Williams, Denise; Cole, Trevor; MacDonald, Fiona; Griffiths, Mike; Allen, Stephanie

    2016-01-01

    Abstract Objective Development of an accurate and affordable test for the non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies (DMD/BMD) to implement in clinical practice. Method Cell‐free DNA was extracted from maternal blood and prepared for massively parallel sequencing on an Illumina MiSeq by targeted capture enrichment of single nucleotide polymorphisms (SNPs) across the dystrophin gene on chromosome X. Sequencing data were analysed by relative haplotype dosage. Results Seven healthy pregnant donors and two pregnant DMD carriers all bearing a male fetus were recruited through the non‐invasive prenatal diagnosis for single gene disorders study. Non‐invasive prenatal diagnosis testing was conducted by relative haplotype dosage analysis for X‐linked disorders where the genomic DNA from the chorionic villus sampling (for healthy pregnant donors) or from the proband (for pregnant DMD carriers) was used to identify the reference haplotype. Results for all patients showed a test accuracy of 100%, when the calculated fetal fraction was >4% and correlated with known outcomes. A recombination event was also detected in a DMD patient. Conclusion Our new test for NIPD of DMD/BMD has been shown to be accurate and reliable during initial stages of validation. It is also feasible for implementation into clinical service. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. PMID:26824862

  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. Prenatal diagnosis of concurrent achondroplasia and klinefelter syndrome.

    PubMed

    Perez-Carbajo, Esther; Zapardiel, Ignacio; 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

  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. Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience

    PubMed Central

    Comas, Carmen; Echevarria, Mónica; Rodríguez, María Ángeles; Rodríguez, Ignacio; Serra, Bernat; Cirigliano, Vincenzo

    2012-01-01

    Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy. Methods: We retrospectively reviewed Down syndrome (DS) screening tests and fetal karyotypes obtained by prenatal invasive testing (IT) in our fetal medicine unit between January 1999 and December 2011. Results: A total of 24,226 prenatal screening tests for DS and 11,045 invasive procedures have been analyzed. Over a 13-year period, utilization of non-invasive screening methods has significantly increased from 57% to 89%. The percentage of invasive procedures has declined from 49% to 12%, although the percentage of IT performed for maternal anxiety has increased from 22% to 55%. The percentage of detected CA increased from 2.5% to 5.9%. Overall, 31 invasive procedures are needed to diagnose 1 abnormal case, being 23 procedures in medical indications and 241 procedures in non-medical indications. Conclusions: Our experience on screening and invasive prenatal diagnostic practice shows a decrease of the number of IT, with a parallel decline in medical indications. There is an increasing efficiency of prenatal screening program to detect CA. Despite the increasing screening policies, our population shows a growing request for prenatal IT. The a priori low risk population shows a not negligible residual risk for relevant CA. This observation challenges the current prenatal screening strategy focused on DS; showing that the residual risk is higher than the current cut-off used to indicate an invasive technique. PMID:26859399

  4. Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele

    PubMed Central

    Sanhal, Cem Y; Tokmak, Aytekin; Müftüoglu, Kamil H; Danisman, Nuri

    2015-01-01

    Tectocerebellar dysraphia (TCD) is an extremely rare disorder and comprises the congenital abnormalities including occipital encephalocele, aplasia and/or hypoplasia of cerebellar vermis and deformity of tectum. Only few reported cases of this entity are there in the literature. However, the diagnosis in each of the previous cases had been made after birth. We herein describe the first reported case of prenatal diagnosis for TCD in a Turkish woman. PMID:26816952

  5. 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

  6. Rapid prenatal diagnosis of cytogenetic abnormalities by array CGH analysis

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Array CGH analysis has been shown to be highly accurate for rapid detection of chromosomal aneuploidies and submicroscopic deletions or duplications on fetal DNA samples in a clinical prenatal diagnostic setting. The objective of this study is to present our "post-validation phase" experience with ...

  7. 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

  8. Gyrate atrophy of the retina and choroid. Two methods for prenatal diagnosis.

    PubMed

    O'Donnell, J J; Sipilä, I; Vannas, A; Sandman, R; Vannas-Sulonen, K

    1981-08-01

    We report two methods for prenatal diagnosis of gyrate atrophy of the retina and choroid caused by an inborn error of ornithine aminotransferase activity. A high pressure liquid chromatography assay measures ornithine aminotransferase accurately and directly in cultured amniotic fluid cells. The differential incorporation of 14C-ornithine and 3H-leucine into cell protein measures OAT directly but rapidly and simply. PMID:7298261

  9. 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…

  10. Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings.

    PubMed

    D'Ambrosio, Valentina; Pasquali, Gaia; Squarcella, Antonia; Marcoccia, Eleonora; Filippis, Angela De; Gatto, Silvia; Camilla, Aliberti; Pizzuti, Antonio; Torre, Renato La; Giancotti, Antonella

    2016-05-01

    Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral shortening and hypoplasia to the absence of any functional femur and acetabular aplasia. Prenatal diagnosis of PFFD is still a challenge, but early recognition of this malformation could provide useful information to both parents and physicians concerning management and therapeutic planning. For this review, we analyzed all the cases of prenatally diagnosed PFFD that were reported in the literature from 1990 to 2014 and provide a description of the most common prenatal sonographic findings. © 2015 Wiley Periodicals, Inc. J Clin Ultrasound 44:252-259, 2016. PMID:26408260

  11. 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

  12. 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

  13. 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

  14. Prenatal diagnosis of congenital mesoblastic nephroma.

    PubMed

    Do, A Young; Kim, Jung-Sun; Choi, Suk-Joo; Oh, Soo-Young; Roh, Cheong-Rae; Kim, Jong-Hwa

    2015-09-01

    Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6×6-cm complex, solid, hyperechoic, round mass in the right kidney. At 35 weeks of gestation, the patient was admitted with preterm premature rupture of membranes and the baby was delivered vaginally. Postnatal ultrasonography and computed tomography showed a heterogeneous solid mass on the right kidney. At the end of the first week of life, a right nephrectomy was performed and subsequent pathological examination confirmed a cellular variant of congenital mesoblastic nephroma with a high mitotic count. Postoperative adjuvant chemotherapy was administered. The newborn was discharged in good condition. PMID:26430667

  15. 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

  16. Prenatal diagnosis of a liver cavernous hemangioma.

    PubMed

    Aslan, Halil; Dural, Ozlem; Yildirim, Gokhan; Acar, Deniz K

    2013-10-01

    Liver tumors seldom occur in the perinatal period. Hepatic hemangiomas are the most common tumors of the liver diagnosed during fetal and neonatal life. The diagnosis can be suspected antenatally by ultrasound and MR scan. The differential diagnosis is often challenging. While small hepatic hemangiomas are usually asymptomatic, large tumors can lead to complications such as high-output congestive heart failure, consumptive thrombocytopenic coagulopathy and hemorrhage after tumor rupture. We describe a case of hepatic hemangioma presenting as a solid abdominal mass with several cystic areas on an obstetric ultrasound and report on the contribition fetal MR imaging to the diagnosis. PMID:23421545

  17. Prenatal ultrasound diagnosis of massive subchorionic thrombohematoma.

    PubMed

    Richards, D S; Bennett, B B

    1998-05-01

    Massive subchorionic thrombohematoma is a rare condition in which a large maternal blood clot separates the chorionic plate from the villous chorion. This condition is usually complicated by intrauterine growth restriction, and is often associated with fetal distress and perinatal death. We present a case in which the diagnosis of massive subchorionic thrombohematoma was made at 24 weeks' gestation. Doppler ultrasound helped to confirm the diagnosis and demonstrated severely abnormal umbilical blood flow. Two days after the diagnosis, fetal distress prompted emergency Cesarean delivery of a growth-restricted infant. PMID:9644779

  18. 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

  19. 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

  20. Prenatal Diagnosis and Pregnancy Outcome Analysis of Polyhydramnios.

    PubMed

    Liu, Li-Ling; Pang, Li-Hong; Deng, Bi-Ye

    2016-01-01

    The aim of the study was to investigate the etiology and pregnancy outcomes in mothers with polyhydramnios through prenatal diagnosis and pregnancy outcome analysis of pregnant women with polyhydramnios. One hundred and thirty women were enrolled. Fifty pregnant women with polyhydramnios were categorized as the case group, and 80 pregnant women with normal amniotic fluid were categorized as the control group. The causes of polyhydramnios and the pregnancy outcomes were analyzed. Two cases had chromosomal abnormalities, seven had severe α-thalassemia, 15 had fetal anomalies, four had maternal-fetal diseases and 22 had unexplained idiopathic polyhydramnios. Significantly, higher occurrences of cesarean section, preterm birth, fetal anomaly, fetal distress, fetal macrosomia and female fetuses occurred in patients with polyhydramnios than in patients without polyhydramnios. Polyhydramnios is associated with a higher occurrence of adverse perinatal outcomes. Intensive monitoring of the maternal-fetal condition and prenatal diagnosis is important in patients with polyhydramnios. PMID:26720631

  1. A Simple Rule for Prenatal Diagnosis of Total Anomalous Pulmonary Venous Return.

    PubMed

    Tongsong, Theera; Luewan, Suchaya; Jatavan, Phudit; Tongprasert, Fuanglada; Sukpan, Kornkanok

    2016-07-01

    The objective of this series was to describe a simple rule for prenatal diagnosis of total anomalous pulmonary venous return (TAPVR). Fourteen fetuses had a prenatal diagnosis of TAPVR by the simple rule, including the following components: (1) the major criterion, which was the absence of a connection between the pulmonary vein and the left atrium; and (2) at least 1 of the following minor criteria: (a) the presence of a vascular confluence behind the atria, (b) abnormal spectral Doppler waveforms in the pulmonary veins, (c) a smooth posterior wall of the left atrium, (d) increased retroatrial space, (e) a dilated coronary sinus (cardiac type), (f) a dilated superior vena cava or brachiocephalic vein, and (g) an additional vessel on the 3-vessel/3-vessel and trachea view or a vertical descending vein. All were accurately diagnosed, and none were missed by the diagnosis. In summary, the simple rule described is helpful in increasing the number of accurate prenatal diagnoses of TAPVR. PMID:27269000

  2. SRY sequence in maternal plasma: Implications for non-invasive prenatal diagnosis: First report from India

    PubMed Central

    D’Souza, Edna; Nair, Sona; Nadkarni, Anita; Ghosh, Kanjaksha; Colah, Roshan B.

    2012-01-01

    AIM: The presence of circulatory cell-free fetal DNA in maternal plasma has found new applications in non-invasive risk-free prenatal diagnosis. MATERIALS AND METHODS: We made use of a size separation approach along with real time polymerase chain reaction (PCR) to evaluate the use of fetal DNA in the detection of the sex of the fetus. Cell-free fetal DNA was isolated from the plasma of 30 women (10–20 weeks gestation) using a size separation approach. We made use of Taq Man Chemistry and real time PCR using primers and probes for GAPDH and SRY. RESULTS: Only 24 cases could be studied as there was no amplification in six cases. Fetal sex was accurately determined in all of the 24 cases wherein 19 women were carrying male fetuses and five women were carrying female fetuses. An increase in the amount of fetal DNA was observed with an increase in the gestational age. CONCLUSIONS: Real time PCR analysis is a highly sensitive and accurate tool for non-invasive prenatal diagnosis, allowing detection of the sex of the fetus as early as 10 weeks of gestation. Non-invasive prenatal diagnosis eliminates the risk of fetal loss associated with the invasive procedure. PMID:22754228

  3. 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

  4. 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. PMID:26199277

  5. 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

  6. Prenatal diagnosis of dextrotransposition of the great arteries.

    PubMed

    Hung, Jeng-Hsiu; Huang, Pi-Tao; Weng, Zen-Chung; Chen, Chih-Yao; Chao, Kuan-Chong; Yang, Ming-Jie; Hung, Jamie

    2008-10-01

    Dextrotransposition of the great arteries (DTGA) is a common cardiac cause of cyanosis in newborn infants that can cause acidosis and death within a short period of time unless there is a large atrial-level shunt or a patent ductus arteriosus. Here, we report a case of prenatal diagnosis of DTGA at 24+1 gestational weeks. In a tilted 4-chamber view, the pulmonary trunk branched to the left and the right pulmonary, with its root connected to the left ventricle outflow tract. In the short-axis view, the pulmonary trunk was shown to be parallel with the ascending aortic root. Cesarean section was performed due to the nonreassuring fetal status at 38+5 gestational weeks. The male neonate appeared to have mild cyanotic symptoms and weighed 3,108 g. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. Neonatal echocardiography was performed immediately after birth and the findings confirmed DTGA associated with atrial septal defect secundum. Postnatally, angiography confirmed the echocardiographic diagnosis of DTGA with a large atrial septal defect secundum and a large patent ductus arteriosus. Jatene arterial switch operation and atrial septal defect closure with Gore-Tex patch were performed. The neonate withstood the operation well and was discharged 27 days after birth weighing 2,950 g and in a stable condition. Prenatal diagnosis of DTGA can greatly aid to prepare the patient's family and the surgeon and significantly improve the outcome of complex heart disease in the neonatal period. PMID:18955191

  7. 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

  8. Prenatal diagnosis in Sweden: organisation and current issues.

    PubMed

    Bui, T H; Kristoffersson, U

    1997-01-01

    Invasive prenatal diagnosis was introduced in Sweden in the early 1970s and is an integral part of the public health care system. Funding is provided by taxation; the patient only pays a consultation fee. Genetic analyses on a broad range of cytogenetic and molecular disorders are performed at the 6 university-affiliated hospitals and in 1 county hospital. About 6% of all newborns have been cytogenetically screened during pregnancy, and about 90% of the analyses are performed after amniocentesis. The main indication is chromosome analysis because of advanced maternal age. PMID:9101184

  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. PMID:19762167

  11. Prenatal diagnosis of fetal adrenal hemorrhage and endocrinologic evaluation

    PubMed Central

    Shin, Se In; Yoo, Ji Geun; Park, In Yang

    2016-01-01

    We present a case of a fetal adrenal hemorrhage, a rare disease in fetal life, detected prenatally at 36 weeks' gestation by ultrasound. Routine ultrasound examination at 36 weeks' gestation by primary obstetrician showed a cyst on the fetal suprarenal area. Initially, the suspected diagnosis was a fetal adrenal hemorrhage, but we should diagnose differently from neuroblastoma. Subsequent ultrasound examination at 38 and 39 weeks' gestation showed increase of the cyst in size. A 3.34-kg-male neonate was born by spontaneous vaginal delivery at 39 weeks' gestation. The diagnosis of adrenal hemorrhage was confirmed by postnatal follow-up sonograms and magnetic resonance imaging. Course and sonographic signs were typical for adrenal hemorrhage and the neonate was therefore managed without surgical exploration. PMID:27200316

  12. 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)

  13. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

    Technology Transfer Automated Retrieval System (TEKTRAN)

    This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies. Women undergoing prenatal diagnosis were counseled and offered array-CGH (BCM V4.0) in addition to routine chromosome ...

  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. Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.

    PubMed

    Liao, Can; Yin, Ai-hua; Peng, Chun-fang; Fu, Fang; Yang, Jie-xia; Li, Ru; Chen, Yang-yi; Luo, Dong-hong; Zhang, Yong-ling; Ou, Yan-mei; Li, Jian; Wu, Jing; Mai, Ming-qin; Hou, Rui; Wu, Frances; Luo, Hongrong; Li, Dong-zhi; Liu, Hai-liang; Zhang, Xiao-zhuang; Zhang, Kang

    2014-05-20

    Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using a benchtop semiconductor sequencing platform (SSP), which relies on the MPS platform but offers advantages over existing noninvasive screening techniques. A total of 2,275 pregnant subjects was included in the study; of these, 515 subjects who had full karyotyping results were used in a retrospective analysis, and 1,760 subjects without karyotyping were analyzed in a prospective study. In the retrospective study, all 55 fetal trisomy 21 cases were identified using the SSP with a sensitivity and specificity of 99.94% and 99.46%, respectively. The SSP also detected 16 trisomy 18 cases with 100% sensitivity and 99.24% specificity and 3 trisomy 13 cases with 100% sensitivity and 100% specificity. Furthermore, 15 fetuses with sex chromosome aneuploidies (10 45,X, 2 47,XYY, 2 47,XXX, and 1 47,XXY) were detected. In the prospective study, nine fetuses with trisomy 21, three with trisomy 18, three with trisomy 13, and one with 45,X were detected. To our knowledge, this is the first large-scale clinical study to systematically identify chromosomal aneuploidies based on cell-free fetal DNA using the SSP and provides an effective strategy for large-scale noninvasive screening for chromosomal aneuploidies in a clinical setting. PMID:24799683

  16. [Myasthenia gravis - optimal treatment and accurate diagnosis].

    PubMed

    Gilhus, Nils Erik; Kerty, Emilia; Løseth, Sissel; Mygland, Åse; Tallaksen, Chantal

    2016-07-01

    Around 700 people in Norway have myasthenia gravis, an autoimmune disease that affects neuromuscular transmission and results in fluctuating weakness in some muscles as its sole symptom. The diagnosis is based on typical symptoms and findings, detection of antibodies and neurophysiological examination. Symptomatic treatment with acetylcholinesterase inhibitors is generally effective, but most patients also require immunosuppressive drug treatment. Antigen-specific therapy is being tested in experimental disease models. PMID:27381787

  17. Utility of ultrasound and magnetic resonance imaging in prenatal diagnosis of placenta accreta: A prospective study

    PubMed Central

    Satija, Bhawna; Kumar, Sanyal; Wadhwa, Leena; Gupta, Taru; Kohli, Supreethi; Chandoke, Rajkumar; Gupta, Pratibha

    2015-01-01

    Context: Placenta accreta is the abnormal adherence of the placenta to the uterine wall and the most common cause for emergency postpartum hysterectomy. Accurate prenatal diagnosis of affected pregnancies allows optimal obstetric management. Aims: To summarize our experience in the antenatal diagnosis of placenta accreta on imaging in a tertiary care setup. To compare the accuracy of ultrasound (USG) with color Doppler (CDUS) and magnetic resonance imaging (MRI) in prenatal diagnosis of placenta accreta. Settings and Design: Prospective study in a tertiary care setup. Materials and Methods: A prospective study was conducted on pregnant females with high clinical risk of placenta accreta. Antenatal diagnosis was established based on CDUS and MRI. The imaging findings were compared with final diagnosis at the time of delivery and/or pathologic examination. Statistical Analysis Used: The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for both CDUS and MRI. The sensitivity and specificity values of USG and MRI were compared by the McNemar test. Results: Thirty patients at risk of placenta accreta underwent both CDUS and MRI. Eight cases of placenta accreta were identified (3 vera, 4 increta, and 1 percreta). All patients had history of previous cesarean section. Placenta previa was present in seven out of eight patients. USG correctly identified the presence of placenta accreta in seven out of eight patients (87.5% sensitivity) and the absence of placenta accreta in 19 out of 22 patients (86.4% specificity). MRI correctly identified the presence of placenta accreta in 6 out of 8 patients (75.0% sensitivity) and absence of placenta accreta in 17 out of 22 patients (77.3% specificity). There were no statistical differences in sensitivity (P = 1.00) and specificity (P = 0.687) between USG and MRI. Conclusions: Both USG and MRI have fairly good sensitivity for prenatal diagnosis of placenta accreta; however

  18. Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis.

    PubMed

    Jang, Dong Gyu; Chae, Hyojin; Shin, Jong Chul; Park, In Yang; Kim, Myungshin; Kim, Yonggoo

    2011-11-01

    A 27-year-old primigravida was referred for evaluation of severe oligohydramnios at 22 weeks of gestation. For a more accurate diagnosis and detection of other fetal anomalies, complementary fetal magnetic resonance imaging (MRI) was performed. Findings of fetal MRI evaluation were consistent with autosomal recessive polycystic kidney disease (ARPKD). Parental mutation analysis in the PKHD1 gene was performed. By PKHD1 mutation analysis, we were able to identify a heterozygous missense mutation in exon 20 (K626R) in the father. Molecular genetic analysis can be helpful for an early and reliable prenatal diagnosis of ARPKD. Herein, we present a case of ARPKD that was diagnosed at 22 weeks of gestation by ultrasonographic examination and MRI and verified by PKHD1 mutation analysis and array-based genetic deletion analysis. PMID:21790888

  19. Attitudes about abortion of women who undergo prenatal diagnosis.

    PubMed

    Kolker, A; Burke, B M; Phillips, J U

    1991-01-01

    Data on 120 women who had experienced either amniocentesis or chorionic villus sampling (CVS) and were attending clinics serving women in the Washington, D.C. area or in the San Diego, California area were analyzed to examine their attitudes toward abortion. In-depth, open-ended interviews were also conducted with 24 currently or recently pregnant women who had also undergone a prenatal diagnostic procedure. All the women wanted the pregnancy in question, and all were more wealthy and better educated than the average woman in the US. Yet women who underwent CVS were better educated (completed college, 89.1% vs. 57.2%) and were more affluent (mean household income, $56,000 vs. $46,000) than those who underwent amniocentesis. Women who had CVS encountered difficulties with obtaining access to CVS and, if it were not for their own initiative, they would have not been able to undergo CVS. This emphasized that, due to more economic, educational, or informational resources, they had greater access to prenatal care. It also verified earlier studies identifying a correlation between adoption of innovations and individual resources. 39.5% of CVS users had earlier elected to terminate a previous pregnancy compared with 22.4% of amniocentesis users. Most respondents supported women's freedom of choice to abort a pregnancy for reasons of endangerment to a mother's health (100% for general population, 98.1% for self), rape or incest (98.2% vs. 97.2%), fetal abnormality (99.1% vs. 100%), low income (86.7% vs. 61.2%), and desire to have no more children (81.3%-88.5% vs. 52.5%-74.5%). Yet few women (19.2% vs. 5.3%) approved of abortion based on sex of the fetus. Even though the respondents were committed to abortion rights, they tended to find it personally hard, if not impossible, to terminate a pregnancy now. They spent considerable emotional and financial resources toward the wanted pregnancy, but, by choosing to undergo prenatal diagnosis, were willing to face the possibility

  20. 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.

  1. 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. PMID:12156379

  2. Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature.

    PubMed

    Tonni, Gabriele; Pattacini, Pierpaolo; Bonasoni, Maria Paola; Araujo Júnior, Edward

    2016-04-01

    Lissencephaly is a genetic heterogeneous autosomal recessive disorder characterized by the classical triad: brain malformations, eye anomalies, and congenital muscular dystrophy. Prenatal diagnosis is feasible by demonstrating abnormal development of sulci and gyri. Magnetic resonance imaging (MRI) may enhance detection of developmental cortical disorders as well as ocular anomalies. We describe a case of early diagnosis of lissencephaly type 2 detected at the time of routine second trimester scan by three-dimensional ultrasound and fetal MRI. Gross pathology confirmed the accuracy of the prenatal diagnosis while histology showed the typical feature of cobblestone cortex. As the disease is associated with poor perinatal prognosis, early and accurate prenatal diagnosis is important for genetic counseling and antenatal care. PMID:27088705

  3. Prenatal diagnosis of chromosome disorders in Tunisian population.

    PubMed

    Chaabouni, H; Chaabouni, M; Maazoul, F; M'Rad, R; Jemaa, L B; Smaoui, N; Terras, K; Kammoun, H; Belghith, N; Ridene, H; Oueslati, B; Zouari, F

    2001-01-01

    Cytogenetic prenatal diagnosis (PND) is under national health program in most developed countries, while it concerns a small part of population at risk in developing countries. Finance is common reason of absence of PND development, but socio-cultural believes play an important role in Arab Muslim countries. In this paper we report results of 3110 fetal karyotypes carried out in a Tunisian population, by cultured amniocytes analysis. It is the largest report in a Muslim Arab country in our Knowledge. Abnormal karyotypes rate was 4.18% classified in two groups: bad prognosis (3.05%) and good prognosis (1.13%). Common amniocentesis indication was maternal age. The highest predictive value was observed in balanced karyotype and fetal ultrasound findings indications. Maternal serum markers were not commonly used for trisomy 21 screening. Pregnancy termination that is permitted by legal and religious authorities was accepted by 94,74% parents. Information about PND outcomes was given by genetic counselling prior to fetal sampling, pregnancy interruption was discussed with parents at cytogenetic result announcement. The authors conclude that in order to prevent mental and physical handicap related to cytogenetic disorders we have to promote PND by education for population, genetic counselling and fetal ultrasound screening; all three methods available in Tunisia. PMID:11522249

  4. 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

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

    PubMed

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

    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

  6. Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.

    PubMed

    Puck, J M; Middelton, L; Pepper, A E

    1997-05-01

    IL2RG, the gene encoding the common gamma chain, gamma c, of the receptor for interleukin-2 and other cytokines, has been identified as the disease gene for severe combined immunodeficiency (SCID) of the X-linked type. Specific mutational diagnosis for X-linked SCID has thus become possible. For many women at risk for carrying an IL2RG mutation, no samples were saved from an affected male relative prior to either death or bone marrow transplantation (BMT). To establish optimal methods for genetic evaluation of such women, we compared mutational screening by single-strand conformational polymorphism, heteroduplex analysis and dideoxy fingerprinting (ddF). Abnormally migrating band patterns were followed up with direct sequencing for identification of specific mutations. The most sensitive method, ddF, detected heterozygous alterations, subsequently confirmed to represent significant mutations, in all of 19 unrelated obligate or suspected carriers studied. Some of these women, as well as others at risk for carrying an X-linked SCID mutation, enrolled in a study of prenatal diagnosis after fetal testing for gender determination. Originally using linkage analysis and, more recently, specific detection of IL2RG mutations, we evaluated pregnancies at risk for X-linked SCID prospectively on a research basis. Of 27 male fetuses tested 14 were predicted to be unaffected and confirmed to have normal immune status at birth. Among pregnancies predicted to be affected, 2 were terminated, while 11 affected males were born at term. Nine of these received neonatal BMT, one had BMT at 3 months of age, and one underwent a successful experimental in utero BMT. In our study cohort accurate prenatal diagnosis assisted decision making and expanded treatment options for families at risk for having infants with a severe, but treatable genetic disorder that presents early in life. PMID:9150730

  7. Recent advances in prenatal screening and diagnosis of genetic disorders.

    PubMed

    Bozzette, Maryann

    2002-11-01

    In any pregnancy, there is an approximate 3% to 5% chance that a fetal complication will occur. The most familiar prenatal diagnostics cannot be performed until the fetus is well into gestation, and most involve invasive procedures along with their inherent risks. In light of these facts, many noninvasive prenatal screening and diagnostic tests have been developed, the newest using recombinant deoxyribonucleic acid (DNA) technology in the examination of fetal cells. Through these procedures, genetic coding errors and chromosomal disruptions may be detected. This article discusses the currently available prenatal and screening diagnostic tests for genetic disorders with a focus on the latest technology. PMID:12473913

  8. 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

  9. 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

  10. Prenatal diagnosis of hypoplastic left heart syndrome in current era.

    PubMed

    Kipps, Alaina K; Feuille, Colin; Azakie, Anthony; Hoffman, Julien I E; Tabbutt, Sarah; Brook, Michael M; Moon-Grady, Anita J

    2011-08-01

    We sought to evaluate the relation of a prenatal diagnosis (preDx) with morbidity and mortality during the initial hospitalization in a contemporary cohort of patients with hypoplastic left heart syndrome (HLHS). A retrospective study of patients with HLHS presenting from 1999 to 2010 was performed. Patients with genetic disorders or a gestational age <34 weeks or who had intentionally received comfort care only were excluded. Of the 81 patients meeting the study criteria, 49 had a preDx and 32 were diagnosed postnatally (postDx). Birth weight (median 3.0 vs 3.4 kg; p = 0.007) and gestational age (median 38 vs 39 weeks; p <0.001) were lower in the preDx than in the postDx patients. Preoperatively, the postDx patients were intubated more frequently (97% vs 71%, p = 0.004) and ventilated longer (median 96 vs 24 hours, p = 0.005) than the preDx patients. They also had more preoperative acidosis, multiorgan failure, tricuspid valve regurgitation, and right ventricular dysfunction. Of the 73 patients undergoing surgery, no difference in survival was seen between the preDx and postDx groups (91% vs 89%). The median duration of postoperative ventilation was 7 days and the median length of stay was 36 days for the 66 survivors, with no difference between the 2 groups. Postoperative morbidities, including chylothorax and infection, were also similar in the preDx and postDx patients. No studied preoperative factor was associated with death, duration of postoperative ventilation, or length of stay. In conclusion, our recent experience has shown that preDx of HLHS was not associated with a survival advantage, fewer postoperative complications, or shorter length of stay. Improved preoperative status was observed in the preDx patients; however, they were born earlier with a lower birthweight. What effect these factors might have on longer term morbidity remains unknown. PMID:21624547

  11. Prenatal diagnosis of trisomy 21 by quantitatively pyrosequencing heterozygotes using amniotic fluid as starting material of PCR.

    PubMed

    Ye, Hui; Wu, Haiping; Huang, Huan; Liu, Yunlong; Zou, Bingjie; Sun, Lizhou; Zhou, Guohua

    2013-04-21

    Allelic ratio of an SNP has been used for prenatal diagnosis of fetal trisomy 21 by MALDI-TOF mass spectrometry (MS). Because MALDI-TOF MS is challenging in quantification performance, pyrosequencing was proposed to replace MS by better quantification of allelic ratios. To achieve a simple and rapid clinical diagnostic, PCR with "HpH Buffer" (a buffer with a high pH) was developed to directly amplify amniotic fluid. By the established assay, 114 samples of amniotic fluid were analyzed by pyrosequencing five SNPs of each sample; the allelic ratios of euploid heterozygotes were thus calculated to determine the cut-off values for prenatal diagnosis of trisomy 21. The panel of five SNPs were high in heterozygosity so that at least one heterozygote was found in each sample, and 86% of the samples had at least two heterozygotes, giving a nearly 100% sensitivity (population coverage) of the assay. By using the cut-off values of each SNP, 20 pre-diagnosed clinical samples were detected as trisomy 21 carriers with a confidence level over 99%, indicating that our method and karyotyping analysis were consistent in results. In conclusion, this pyrosequencing-based approach, coupled with direct amplification of amniotic fluid, is accurate in quantitative genotyping and simple in operation. We believe that the approach could be a promising alternative to karyotyping analysis in prenatal diagnosis. PMID:23463136

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

    PubMed Central

    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

  13. Extensive Fetal Congenital Subcutaneous Mixed Venous Lymphatic Lesion: Prenatal Diagnosis and Postnatal Management

    PubMed Central

    Odibo, I. N.; Linam, L. E.; Richter, G. E.; Jackson, R. J.; Dajani, N. K.

    2015-01-01

    Vascular lesions may be categorized as proliferative tumors, such as hemangiomas, or nonproliferative malformations that include capillary, lymphatic, venous, arterial, or mixed lesions. Lymphatic malformations are benign localized congenital malformations of the lymphatic system. They may be microcystic or macrocystic lesions or a combination of both. The lesions may also be uniseptate or multiseptate, and are more commonly located in the head and neck or axillary region. Prenatal diagnosis is based on ultrasound and magnetic resonance imaging. Postnatal management largely depends on the size and location of the lesion. This is the first case report of prenatally diagnosed extensive subcutaneous macrocystic venous lymphatic malformation involving the fetal thorax, back, pelvis, and lower extremities. Prenatal course and postnatal management are described. This report will aid other specialists in the field of prenatal diagnosis and postnatal surgery in the evaluation and management of these patients. PMID:26199796

  14. 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.

  15. 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:…

  16. 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. PMID:22814726

  17. Permissibility of prenatal diagnosis and abortion for fetuses with severe genetic disorder: type 1 spinal muscular atrophy.

    PubMed

    Sasongko, Teguh H; Salmi, Abd Razak; Zilfalil, Bin Alwi; Albar, Mohammed Ali; Mohd Hussin, Zabidi Azhar

    2010-01-01

    Abortion has been largely avoided in Muslim communities. However, Islamic jurists have established rigorous parameters enabling abortion of fetuses with severe congenital abnormalities. This decision-making process has been hindered by an inability to predict the severity of such prenatally-diagnosed conditions, especially in genetic disorders with clinical heterogeneity, such as spinal muscular atrophy (SMA). Heterogeneous phenotypes of SMA range from extremely severe type 1 to very mild type 4. Advances in molecular genetics have made it possible to perform prenatal diagnosis and to predict the types of SMA with its potential subsequent severity. Such techniques will make it possible for clinicians working in predominantly Muslim countries to counsel their patients accurately and in harmony with their religious beliefs. In this paper, we discuss and postulate that with our current knowledge of determining SMA types and severity with great accuracy, abortion is legally applicable for type 1 SMA. PMID:21060155

  18. Permissibility of prenatal diagnosis and abortion for fetuses with severe genetic disorder: type 1 spinal muscular atrophy

    PubMed Central

    Sasongko, Teguh H.; Salmi, Abd Razak; Zilfalil, Bin Alwi; Albar, Mohammed Ali; Mohd Hussin, Zabidi Azhar

    2010-01-01

    Abortion has been largely avoided in Muslim communities. However, Islamic jurists have established rigorous parameters enabling abortion of fetuses with severe congenital abnormalities. This decision-making process has been hindered by an inability to predict the severity of such prenatally-diagnosed conditions, especially in genetic disorders with clinical heterogeneity, such as spinal muscular atrophy (SMA). Heterogeneous phenotypes of SMA range from extremely severe type 1 to very mild type 4. Advances in molecular genetics have made it possible to perform prenatal diagnosis and to predict the types of SMA with its potential subsequent severity. Such techniques will make it possible for clinicians working in predominantly Muslim countries to counsel their patients accurately and in harmony with their religious beliefs. In this paper, we discuss and postulate that with our current knowledge of determining SMA types and severity with great accuracy, abortion is legally applicable for type 1 SMA. PMID:21060155

  19. Prenatal diagnosis of beta-thalassaemia in Pakistan: experience in a Muslim country.

    PubMed

    Ahmed, S; Saleem, M; Sultana, N; Raashid, Y; Waqar, A; Anwar, M; Modell, B; Karamat, K A; Petrou, M

    2000-05-01

    A service for prenatal diagnosis of beta-thalassaemia was introduced in Pakistan in May 1994. Two renowned Islamic scholars, consulted before the service was introduced, ruled that a pregnancy can be terminated if the fetus is affected by a serious genetic disorder, and if termination is before 120 days (17 weeks) of gestation. During the first 3(1/2) years of the service 300 couples requested the test. Almost all the couples had been informed by their treating doctors. Most diagnoses were made between 10 and 16 weeks of gestation, and only 15 (5%) were reached after the 16th week. DNA analysis was by the amplification refractory mutation system (ARMS). A multiplex ARMS was developed in which three primer combinations identified the mutations in 91.5% of the couples. In 13 couples (4. 3%) linkage analysis was required for the fetal diagnosis. In 47/53 (88.7%) women carrying an affected fetus the pregnancy was terminated. In six cases it was declined principally on religious grounds. Postnatal confirmation of the prenatal diagnosis was possible in 117 unaffected children. One year after the start of the service, interviews with 141 couples with an affected child showed that 72% knew of the availability of prenatal diagnosis. Thirty-two of the informed couples had had a pregnancy, but only 18 (56%) used prenatal diagnosis. The main reasons for non-utilization of prenatal diagnosis were the cost of the test and fear of undergoing the test, though some gave no clear explanation. This study demonstrates that prenatal diagnosis is feasible and acceptable in a Muslim country such as Pakistan. PMID:10820404

  20. Dacryocystocele on prenatal ultrasonography: diagnosis and postnatal outcomes

    PubMed Central

    2015-01-01

    Purpose: To report the incidence of dacryocystoceles detected by prenatal ultrasonography (US) and their postnatal outcomes and to determine the factors associated with the postnatal persistence of dacryocystoceles at birth. Methods: We retrospectively reviewed the prenatal US database at our institution for the period between January 2012 and December 2013. The medical records of women who had fetuses diagnosed with dacryocystocel larger than 5 mm were reviewed for maternal age, gestational age (GA) at detection, size and side of the dacryocystoceles, delivery, and postnatal information, such as GA at delivery, delivery mode, and gender of the neonate. Results: A total of 49 singletons were diagnosed with a dacryocystocele on prenatal US, yielding an overall incidence of 0.43%. The incidence of dacryocystoceles was the highest at the GA of 27 weeks and decreased toward term. Of the 49 fetuses including three of undeter mined gender, 25 (54%) were female. The mean GA at first detection was 31.2 weeks. The dacryocystocele was unilateral in 29 cases, with a mean maximum diameter of 7 mm. Spontaneous resolution at birth was documented in 35 out of 46 neonates (76%), including six with prenatal resolution. Multivariate analysis demonstrated that GA at delivery was a significant predictor of the postnatal persistence of dacryocystoceles (P=0.045). Conclusion: The overall incidence of prenatal dacryocystoceles was 0.43%; the incidence was higher in the early third trimester and decreased thereafter. Prenatal dacryocystoceles resolved in 76% of the patients at birth, and the GA at delivery was a significant predictor of postnatal persistence. PMID:25475649

  1. 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

  2. Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida: a systematic review of the literature

    PubMed Central

    Johnson, Candice Y.; Honein, Margaret A.; Flanders, W. Dana; Howards, Penelope P.; Oakley, Godfrey P.; Rasmussen, Sonja A.

    2015-01-01

    Background In regions where prenatal screening for anencephaly and spina bifida is widespread, many cases of these defects are prenatally diagnosed. The purpose of this study was to estimate the frequency of termination of pregnancy (TOP) following prenatal diagnosis of anencephaly or spina bifida and to investigate factors associated with TOP that might lead to selection bias in epidemiologic studies. Methods We included articles indexed in Medline and Embase between 1990 and May 2012 reporting the frequency of TOP following prenatal diagnosis of anencephaly or spina bifida with English-language abstracts, ≥20 prenatally diagnosed cases, and at least half of the study years in 1990 or later. We summarized the frequency of TOP across studies using random-effects meta-analysis and stratified results by fetal and study characteristics. Results Among the 17 studies identified, 9 included anencephaly and 15 included spina bifida. Nine were from Europe, 6 were from North America, and 1 each was from South America and Asia. The overall frequency of TOP following prenatal diagnosis was 83% for anencephaly (range: 59–100%) and 63% for spina bifida (range: 31–97%). There were insufficient data to stratify the results for anencephaly; TOP for spina bifida was more common when the prenatal diagnosis occurred <24 weeks gestation, with defects of greater severity, and in Europe versus North America. Conclusions Because underascertainment of birth defects might be more likely when the pregnancy ends in TOP and TOP is associated with fetal characteristics, selection bias is possible in epidemiologic studies of anencephaly or spina bifida. PMID:23097374

  3. Some ethical issues in the prenatal diagnosis of sickle cell anaemia.

    PubMed

    Fadare, Joseph O

    2009-12-01

    Sickle cell anaemia (SCA) is the most common form of haemoglobinopathy in Nigeria affecting 1-3% of the population and it is associated with physical, psychosocial and emotional suffering. Prenatal diagnosis (PND) and genetic counseling are ways of preventing the spread of the disease; however these means of prevention are associated with many ethical dilemmas. Ethical issues discussed in this paper include the safety of the procedures used in obtaining tissue sample for prenatal diagnosis, abortion of affected fetuses and the question of genetic selection. Finally, the ethical implications of genetic counseling and issues relating to the principle of justice in healthcare are highlighted. PMID:25161466

  4. 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

  5. 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

  6. 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…

  7. 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

  8. 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

  9. From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges

    PubMed Central

    Bianchi, Diana W

    2015-01-01

    Thus far, the focus of personalized medicine has been the prevention and treatment of conditions that affect adults. Although advances in genetic technology have been applied more frequently to prenatal diagnosis than to fetal treatment, genetic and genomic information is beginning to influence pregnancy management. Recent developments in sequencing the fetal genome combined with progress in understanding fetal physiology using gene expression arrays indicate that we could have the technical capabilities to apply an individualized medicine approach to the fetus. Here I review recent advances in prenatal genetic diagnostics, the challenges associated with these new technologies and how the information derived from them can be used to advance fetal care. Historically, the goal of prenatal diagnosis has been to provide an informed choice to prospective parents. We are now at a point where that goal can and should be expanded to incorporate genetic, genomic and transcriptomic data to develop new approaches to fetal treatment. PMID:22772565

  10. 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

  11. Prenatal diagnosis and female abortion: a case study in medical law and ethics.

    PubMed

    Dickens, B M

    1986-09-01

    Alarm over the prospect that prenatal diagnostic techniques, which permit identification of fetal sex and facilitate abortion of healthy but unwanted female fetuses has led some to urge their outright prohibition. This article argues against that response. Prenatal diagnosis permits timely action to preserve and enhance the life and health of fetuses otherwise endangered, and, by offering assurance of fetal normality, may often encourage continuation of pregnancies otherwise vulnerable to termination. Further, conditions in some societies may sometimes render excusable the inclination to abort certain healthy female fetuses. In places where abortion for fetal sex alone is recognised as unethical, however, medical licensing authorities already possess the power to discipline, for professional misconduct, physicians who prescribe or perform prenatal diagnosis purely to identify fetal sex, or those who disclose fetal sex when that is unrelated to the fetus's medical condition. PMID:3761335

  12. Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome in one fetus of a twin pregnancy.

    PubMed

    Hsu, Chaur-Dong; Craig, Carin; Pavlik, Jacqueline; Ninios, Athanasios

    2003-05-01

    Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare genetic disorder that affects the muscle tone in the intestinal and urinary tract systems. Prenatal diagnosis is difficult because an identifiable genetic locus is absent and there are no specific ultrasound findings. We present an interesting case of this syndrome diagnosed prenatally in one fetus of a twin pregnancy. A 26-year-old white woman gravida 4, para 2103, at 11 weeks' gestation was diagnosed with a dichorionic diamniotic twin pregnancy. The patient's history was significant for having a previous female infant diagnosed with MMIHS. During a follow-up ultrasound at 26 weeks, one of the twins had multiple anomalies including: a pelvic cystic structure with a keyhole appearance, enlarged stomach, dilated bowel, and prominent renal pelves. Prenatal diagnosis of MMIHS can be possible on ultrasound findings with a positive family history. PMID:12874733

  13. 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

  14. The Role of RNAs and microRNAs in Non-Invasive Prenatal Diagnosis

    PubMed Central

    Farina, Antonio

    2014-01-01

    In this paper, all possible clinical applications of circulating mRNA and miRNA for non-invasive prenatal diagnosis appearing in the medical literature so far are described. Data from the literature have also been reported and commented on along with some possible future applications. PMID:26237384

  15. 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

  16. 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

  17. An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia.

    PubMed

    New, Maria I; Abraham, Moolamannil; Yuen, Tony; Lekarev, Oksana

    2012-10-01

    Congenital adrenal hyperplasia causes genital ambiguity in females affected with the severe form of the disease; yet the abnormality is preventable with prenatal dexamethasone treatment that must be given to the mother before the ninth week of gestation. In the period from 1978 to March 2011 we have made prenatal diagnosis in 719 pregnancies. Our results indicate that the average Prader score of those fetuses treated with dexamethasone was 1.7, which is much lower than the average Prader score of 3.73 in those not treated. While our data demonstrate no significant abnormalities in the long-range medical and cognitive outcomes in patients prenatally treated with dexamethasone, the current protocol involves invasive procedures such as chorionic villus sampling or amniocentesis, and all fetuses are treated unnecessarily for several weeks before the sex and the affection status of the fetus is known. We are collaborating with Dr. Dennis Lo in Hong Kong to develop a noninvasive protocol, whereby at the sixth to seventh week of gestation we can determine the sex and the affection status of the fetus by harvesting fetal DNA from the maternal plasma. The method will eliminate invasive procedures and unnecessary prenatal treatment and bring noninvasive prenatal diagnosis to underdeveloped areas where amniocentesis and chorionic villus sampling are not available. PMID:23044876

  18. First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy.

    PubMed Central

    Poenaru, L; Castelnau, L; Dumez, Y; Thepot, F

    1984-01-01

    We investigated the possibility of mucolipidosis type II (ML II) prenatal diagnosis by lysosomal enzyme determination on trophoblast biopsy obtained at 10 weeks of gestation in two pregnancies at risk. Diagnosis of ML II was made in both cases on fresh chorionic villi on the basis of depressed beta-galactosidase activity, and after abortion, the diagnosis was confirmed on fresh fetal tissues and on cells cultured from trophoblast and fetuses. We stress the importance of culturing cells from the trophoblast biopsy to ensure a reliable diagnosis. PMID:6440435

  19. Racial Variation In Timing Of Pyeloplasty: Prenatal Versus Postnatal Diagnosis

    PubMed Central

    Routh, Jonathan C.; Pennison, Melanie; Rosoklija, Ilina; Dobbins, Sarah; Kokorowski, Paul J.; Hubert, Katherine C.; Huang, Lin; Nelson, Caleb P.

    2013-01-01

    Purpose We have previously shown that non-white patients with UPJ obstruction undergo pyeloplasty at a younger age than do whites. The mechanisms behind this are unclear, as there is no known racial variation in the natural history of UPJ obstruction. We sought to use a detailed clinical database to explain this phenomenon. Methods We performed a retrospective review of all patients undergoing primary pyeloplasty at our institution between 1992 and 2008. Over 360 data points were abstracted for each patient, including self-reported patient race, socioeconomic status, symptom duration, and presentation. Results Of 847 patients undergoing pyeloplasty during the study period, 741 met inclusion criteria. Non-white patients underwent surgery younger than did whites (non-white 0.6 v. white 2.6 years, p<0.0001). When stratified by timing of clinical presentation (prenatal versus postnatal), there was no significant difference by race among patients presenting prenatally (0.37 v. 0.36 years, p=0.22). Non-white patients presenting postnatally were significantly younger than white patients (6.3 v. 8.2 years, p=0.03). This appeared to be due to differences in both the age at initial clinical presentation (5.4 v. 7.0 years, p=0.03) and in time from initial clinical presentation to urology evaluation (0.6 v. 3.2 months, p=0.03). These differences persisted after correcting for other factors, including markers of socioeconomic status. Conclusions Consistent with previous studies, we found that non-white patients underwent primary pyeloplasty at a younger age than whites. This difference is limited to patients presenting after birth. Prenatally diagnosed patients underwent surgery at similar ages regardless of race. PMID:22014821

  20. Array-based comparative genomic hybridization (array CGH) for rapid prenatal diagnosis of cytogenetic abnormalities

    Technology Transfer Automated Retrieval System (TEKTRAN)

    We have shown in a prospective validation study that an array CGH test was highly accurate for rapid detection of chromosomal aneuploidies and deletions or duplications on fetal DNA samples in a clinical prenatal diagnostic setting. Here we present our updated "post-validation phase" experience with...

  1. 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

  2. Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay.

    PubMed

    Keulemans, J L M; Sinigerska, I; Garritsen, V H; Huijmans, J G M; Voznyi, Y V; van Diggelen, O P; Kleijer, W J

    2002-11-01

    Prenatal diagnosis of the Hunter syndrome (mucopolysaccharidosis type II; MPS II) is preferably achieved by the assay of iduronate-2-sulphate sulphatase (IDS) in uncultured chorionic villi (CV) as this allows early (12th week), rapid (2-3 days) and reliable results. We summarize the results of 174 prenatal analyses in the past 30 years, using various methods such as radiolabelled sulphate incorporation in amniotic fluid (AF) cells, glycosaminoglycan (GAG)-electrophoresis in AF and IDS assay in CV, CV-cells, AF and AF-cells. Twenty-seven fetuses with MPS II were diagnosed after finding clearly abnormal results in pregnancies with a male fetus; very low IDS activity has also been measured in some pregnancies with a (heterozygous) female fetus, emphasizing the need to combine enzyme assay with fetal sex determination. IDS activity has until recently been assessed by a cumbersome radioactive enzyme assay. Here we describe the use of a novel fluorigenic 4-methylumbelliferyl substrate, which allows a sensitive, rapid and convenient assay of IDS activity and reliable early prenatal diagnosis. This novel IDS assay was validated in retrospective analyses of 14 CV, CV-cell, AF and AF-cell samples from affected pregnancies in addition to prospective prenatal diagnosis in eight pregnancies at risk with one MPS II-affected fetus. PMID:12424767

  3. “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

  4. 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

  5. Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by molecular genetic testing in Korean siblings.

    PubMed

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

    2011-11-01

    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

  6. Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome.

    PubMed Central

    Koeberl, D D; McGillivray, B; Sybert, V P

    1995-01-01

    The prognosis for 45,X/46,XX mosaicism diagnosed prenatally has yet to be established. We report our experience with 12 patients in whom prenatal diagnosis of 45,X/46,XX mosaicism was detected by amniocentesis for advanced maternal age or decreased maternal serum alpha-feto protein and compared them with 41 45,X/46,XX patients diagnosed postnatally. The girls in the prenatal group range in age from 3 mo to 10 years. All have had normal linear growth. Four had structural anomalies including: ASD (n = 1); ptosis and esotropia (n = 1); labial fusion (n = 1); and urogenital sinus, dysplastic kidneys, and hydrometrocolpos (n = 1). Gonadotropins were measured in seven; one had elevated luteinizing hormone/FSH at 3 mo of age. One has developmental delay and seizures as well as ophthalmologic abnormalities. None would have warranted karyotyping for clinical suspicion of Turner syndrome. The prevalence of 45,X/46,XX mosaicism is 10-fold higher among amniocenteses than in series of postnatally diagnosed individuals with Turner syndrome, which suggests that most individuals with this karyotype escape detection and that an ascertainment bias exists toward those with clinically evident abnormalities. The phenomenon of a milder phenotype for the prenatal group is similar to that observed for 45,X/46,XY diagnosed prenatally. Prenatal counseling for 45,X/46,XX in the absence of such ultrasound abnormalities as hydrops fetalis should take into account the expectation of a milder phenotype (except, possibly, with respect to developmental delay) than that of patients ascertained postnatally. The same does not hold true for 45,x diagnosed prenatally. PMID:7668295

  7. [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. PMID:7061905

  8. 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

  9. Prenatal Diagnosis of Uhl Anomaly with Autopsy Correlation.

    PubMed

    Philip, Saji; Bharati, Sarasa; Cherian, Kottureth Mammen; Bharati, Saroja

    2016-03-01

    Uhl anomaly is a rare form of congenital hypoplasia of the right ventricular myocardium. Here, we report, a rare finding in fetal cardiac ultrasound in a 33-year-old woman who presented at 20 weeks' of gestation. A diagnosis of Uhl anomaly was made. An autopsy was performed at 23weeks gestation after obtaining permission for medicolegal termination of pregnancy. Histopathological examination confirmed the diagnosis. Diagnosing Uhl anomaly in fetal life is essential since mortality and survival mainly depend on the severity of right ventricle dysfunction related to, the either partial or complete absence of the myocardium. Hence, surviving cases need to be followed up carefully and counselled accordingly. PMID:26929879

  10. Prenatal Diagnosis of Uhl Anomaly with Autopsy Correlation

    PubMed Central

    Philip, Saji; Bharati, Sarasa; Cherian, Kottureth Mammen; Bharati, Saroja

    2015-01-01

    Uhl anomaly is a rare form of congenital hypoplasia of the right ventricular myocardium. Here, we report, a rare finding in fetal cardiac ultrasound in a 33-year-old woman who presented at 20 weeks' of gestation. A diagnosis of Uhl anomaly was made. An autopsy was performed at 23weeks gestation after obtaining permission for medicolegal termination of pregnancy. Histopathological examination confirmed the diagnosis. Diagnosing Uhl anomaly in fetal life is essential since mortality and survival mainly depend on the severity of right ventricle dysfunction related to, the either partial or complete absence of the myocardium. Hence, surviving cases need to be followed up carefully and counselled accordingly. PMID:26929879

  11. 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

  12. Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review.

    PubMed

    Chen, Chih-Ping; Chen, Ming; Su, Yi-Ning; Huang, Jian-Pei; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chang, Shun-Ping; Chen, Yu-Ting; Lee, Chen-Chi; Chen, Li-Feng; Pan, Chen-Wen; Wang, Wayseen

    2013-10-15

    We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype-phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case. PMID:23933412

  13. Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis

    PubMed Central

    Sun, Lijuan; Wu, Qingqing; Jiang, Shi-Wen; Yan, Yani; Wang, Xin; Zhang, Juan; Liu, Yan; Yao, Ling; Ma, Yuqing; Wang, Li

    2015-01-01

    The aims of this study were to evaluate the contribution of chromosomal microarray analysis (CMA) in the prenatal diagnosis of fetuses with central nervous system (CNS) anomalies but normal chromosomal karyotype. A total of 46 fetuses with CNS anomalies with or without other ultrasound anomalies but normal karyotypes were evaluated by array-based comparative genomic hybridisation (aCGH) or single-nucleotide polymorphism (SNP) array. The result showed that CNVs were detected in 17 (37.0%) fetuses. Of these, CNVs identified in 5 (5/46, 10.9%) fetuses were considered to be likely pathogenic, and CNVs detected in 3 (3/46, 6.5%) fetuses were defined as being of uncertain clinical significance. Fetuses with CNS malformations plus other ultrasound anomalies had a higher rate of pathogenic CNVs than those with isolated CNS anomalies (13.6% versus 8.3%), but there was no significant difference (Fisher's exact test, P > 0.05). Pathogenic CNVs were detected most frequently in fetuses with Dandy-Walker syndrome (2/6, 33.3%) when compared with other types of neural malformations, and holoprosencephaly (2/7, 28.6%) ranked the second. CMA is valuable in prenatal genetic diagnosis of fetuses with CNS anomalies. It should be considered as part of prenatal diagnosis in fetuses with CNS malformations and normal karyotypes. PMID:26064910

  14. Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy.

    PubMed

    Corbacioglu Esmer, Aytul; Kalelioglu, Ibrahim; Omeroglu, Rukiye Eker; Kayserili, Hulya; Gulluoglu, Mine; Has, Recep; Yuksel, Atıl

    2015-01-01

    A healthy 19-year-old nulliparous pregnant woman was referred to our clinic because of fetal pericardial effusion and ascites. The sonographic examination performed at 28 weeks' gestation revealed scalp edema, severe skin edema, bilateral hydrocele, ascites, and pleural and pericardial effusion. Fetal echocardiographic examination showed that both ventricles were dilated with severely depressed contractility. The aortic annulus, ascending aorta, aortic arch, descending aorta, common iliac arteries, main pulmonary artery, tricuspid valve, and mitral chordae tendinae were hyperechogenic. Right ventricular outflow tract was narrow with decreased blood flow. There was tricuspid and mitral valve regurgitation and tricuspid valve stenosis. On the basis of these findings, we made the diagnosis of generalized arterial calcification, which is characterized by extensive calcification of internal elastic lamina and intimal proliferation of medium-sized and large arteries. This diagnosis was confirmed histologically after the termination of pregnancy. PMID:24420383

  15. Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele

    PubMed Central

    Esmer, Aytul Çorbacıoğlu; Kalelioğlu, İbrahim; Kayserili, Hülya; Yüksel, Atıl; Has, Recep

    2013-01-01

    Frontonasal dysplasia is a rare congenital anomaly affecting the eyes, nose and forehead, and occurs sporadically in most of the cases. A 24-year-old woman was referred to our unit at 27 weeks gestation due to the preliminary diagnosis of encephalocele. The sagittal and axial sonography of the fetal face depicted a midline mass measuring 3.8 × 4.2 cm, projecting anteriorly between the fetal orbits and extending from the the upper aspects of the forehead to the nasal bridge, which was consistent with the frontal (anterior) encephalocele. There were prominent hypertelorism and two facial clefts, and the nostrils were extremely separated. Following genetic counseling, the couple requested termination of pregnancy. Fetal pathologic examination confirmed the diagnosis of frontonasal dysplasia and anterior encephalocele with no additional major malformation. The fetal karyotype was normal and no mutation in the ALX1 gene was found, excluding ALX1-related frontonasal dysplasia in the differential diagnosis. Fetuses with neural tube defect may suffer from associated syndromes and disorders, as with our case. The presence of frontonasal dyplasia should be considered when an anterior encephalocele is detected by ultrasonography. PMID:24592072

  16. Prenatal diagnosis of lethal osteogenesis imperfecta in twin pregnancy.

    PubMed

    Morin, L R; Herlicoviez, M; Loisel, J C; Jacob, B; Feuilly, C; Stanescu, V

    1991-06-01

    Lethal osteogenesis imperfecta was diagnosed at 27 weeks amenorrea in one fetus of a bichorial twin pregnancy. Sonographic findings included: short-limb dwarfism, hypotrophy and hypoechoic bones. The affected fetus was so translucent that only the normal fetus could be seen on plain in utero radiography. The affected fetus died immediately after birth. Postmortem radiography and histology were typical of lethal osteogenesis imperfecta of type IIA. Aids to the etiological diagnosis of in utero dwarfism are presented. Sonographic features correlated with neonatal death are described. PMID:1863995

  17. 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

  18. 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

  19. Prenatal diagnosis of McKusick-Kaufman/Bardet-Biedl syndrome.

    PubMed

    Parlakgumus, Ayse; Yalcinkaya, Cem; Kilicdag, Esra

    2011-01-01

    A 24-year-old primigravid women with no remarkable history and antenatal follow-up was referred to our clinic with the diagnosis of fetal megacystis. Ultrasound examination revealed an oval shaped hypoechoic cystic mass measuring 80×55×50 mm occupying the fetal pelvis in a female fetus. The fluid inside the cyst was heterogeneous giving a two level appearance. A normal looking urinary bladder was visualised separately which was located in normal position. Further sonographic evaluation revealed postaxial polydactyly in both hands. The fetal echocardiography and amniotic fluid index was normal. An obstetrical MRI was done for the suspicion of a hydrometrocolpos and confirmed the diagnosis. The infant was delivered by vaginal route at term. Physical examination of neonate confirmed postaxial polydactyly in hands. After birth a cystoscopy performed by the paediatric surgeons revealed a urogenital sinus and vaginal atresia. A catheter was placed in the uterine cavity to drain it. Nine months later the baby went on a 'vaginal pull through' operation to reconstruct the vagina and the urethra. The baby is now 3 years old and doing well. PMID:22699466

  20. 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

  1. 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. PMID:25052315

  2. 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

  3. 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.

  4. Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.

    PubMed

    Lalatta, Faustina; Quagliarini, Donatella; Folliero, Emanuela; Cavallari, Ugo; Gentilin, Barbara; Castorina, Pierangela; Forzano, Francesca; Forzano, Serena; Grosso, Enrico; Viassolo, Valeria; Naretto, Valeria Giorgia; Gattone, Stefania; Ceriani, Florinda; Faravelli, Francesca; Gargantini, Luigi

    2010-10-01

    We report clinical and behavioural evaluation data in 42 Italian girls with triple X syndrome whose diagnosis was made prenatally between 1998 and 2006 in three Italian centres. At initial evaluation, reproductive and medical histories were collected. Clinical assessment of the child was performed by a clinical geneticist and included a detailed personal history, physical evaluation and auxological measurements. To analyse how parents coped with specific events in the prenatal and postnatal periods, we conducted an interview that included 35 specific questions designed to elicit retrospective judgements on prenatal communication, present and future worries, needs and expectations. In a subset of probands, we also administered the formal Italian Temperament Questionnaire assessment test that investigates adaptation, general environment and socialisation. This test also assesses the emotional component of temperament. Clinical results in the affected children are similar to those previously reported with evidence of increased growth in the pre-puberal age and an average incidence of congenital malformation and health needs. Median age for the time first words were pronounced was 12 months, showing a slight delay in language skills, which tended to improve by the time they reached school age. Parental responses to the interview demonstrated residual anxiety but with a satisfactory adaptation to and a positive recall of the prenatal counselling session. Parental adaptation of the 47,XXX girls require indeed a proper educational support. This support seems to be available in Italy. An integrated approach to prenatal counselling is the best way to manage the anxiety and falsely imagined consequences that parents feel after being told that their foetus bears such a genetic abnormality. PMID:20473517

  5. Goldenhar syndrome: a rare diagnosis with possible prenatal findings.

    PubMed

    Ribeiro, Bárbara; Igreja, Joana; Gonçalves-Rocha, Miguel; Cadilhe, Alexandra

    2016-01-01

    Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed. 11 syndromes with poor fetal or neonatal prognosis were identified as possible diagnosis, using a genetic database and the couple asked for a medical termination of pregnancy. Postmortem examination has shown features consistent with Goldenhar syndrome. PMID:27329096

  6. 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

  7. Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe.

    PubMed

    Stoll, C; Garne, E; Clementi, M

    2001-04-01

    Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996-1998, 709 030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into 'isolated' when only a cardiac malformation was present and 'associated' when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were

  8. The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis.

    PubMed

    Breysem, L; Bosmans, H; Dymarkowski, S; Schoubroeck, D Van; Witters, I; Deprest, J; Demaerel, P; Vanbeckevoort, D; Vanhole, C; Casaer, P; Smet, M

    2003-07-01

    The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique. Head, neck, spinal, thoracic, urogenital, and abdominal fetal pathologies were found. This retrospective, observational study compared MR imaging findings with ultrasonographic findings regarding detection, topography, and etiology of the pathology. The MR findings were evaluated as superior, equal to, or inferior compared with US, in consent with the referring gynecologists. The role of these findings in relation to pregnancy management was studied and compared with postnatal follow-up in 30 of 40 babies. Fetal MRI technique was successful in 36 of 39 examinations and provided additional information in 21 of 40 fetuses (one twin pregnancy with two members to evaluate). More precise anatomy and location of fetal pathology (20 of 40 cases) and additional etiologic information (8 of 40 cases) were substantial advantages in cerebrospinal abnormalities [ventriculomegaly, encephalocele, vein of Galen malformation, callosal malformations, meningo(myelo)cele], in retroperitoneal abnormalities (lymphangioma, renal agenesis, multicystic renal dysplasia), and in neck/thoracic pathology [cervical cystic teratoma, congenital hernia diaphragmatica, congenital cystic adenomatoid lung malformation (CCAM)]. This improved parental counseling and pregnancy management in 15 pregnancies. In 3 cases, prenatal MRI findings did not correlate with prenatal ultrasonographic findings or neonatal diagnosis. The MRI provided a more detailed description and insight into fetal anatomy, pathology, and etiology in the vast majority of these selected cases. This improved prenatal parental counseling and postnatal therapeutic planning. PMID:12695920

  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. [Non invasive prenatal diagnosis. Fetal nucleic acid analysis in maternal blood].

    PubMed

    Sesarini, Carla; Argibay, Pablo; Otaño, Lucas

    2010-01-01

    Current prenatal diagnosis of monogeneic and chromosomal diseases, includes invasive procedures which carry a small but significant risk. For many years, analysis of fetal cells in maternal circulation has been studied, however it has failed its clinical use due to the scarcity of these cells and their persistance after delivery. For more than a decade, the presence of cell-free fetal DNA in maternal blood has been identified. These fetal DNA fragments would derive from the placenta and are not detected after delivery, making them a source of fetal material for carrying out diagnosis techniques using maternal blood. However, the vast majority of cell free DNA in maternal circulation is of maternal origin, with the fetal component contributing from 3% to 6% and rising towards term. Available methodologies do not allow separation of fetal from maternal cell free DNA, so current applications have been focused on the analysis of genes not present in the mother, such as Y chromosome sequences, or RHD gene in RhD-negative women, or paternal or de novo mutations. Also, the detection of cell-free fetal RNA in maternal blood offers the possibility of obtaining information regarding genetic expression profiles of embrionic tissues, and using genes expressed only at the feto-placental unit, controls for the presence of fetal material could be established, regardless of maternal genetic tissue. The present article describes the evidences regarding the passage of fetal nucleic acids to maternal circulation, its current prenatal diagnosis application and possible future perspectives. PMID:21163745

  11. Information following a Diagnosis of Congenital Heart Defect: Experiences among Parents to Prenatally Diagnosed Children

    PubMed Central

    Carlsson, Tommy; Bergman, Gunnar; Melander Marttala, Ulla; Wadensten, Barbro; Mattsson, Elisabet

    2015-01-01

    Background Prenatal screening of pregnant women in Sweden has improved the detection of major congenital heart defects (CHD). The aim was to explore parental experiences and need for information following a prenatal diagnosis of CHD. Methods Semi-structured interviews conducted with six fathers and five mothers to seven prenatally diagnosed children. Data were analyzed through content analysis. Results Three themes and 9 categories emerged. Theme 1, Grasping the facts today while reflecting on the future, containing five categories: Difficulties sorting out information when in emotional chaos; Respectful information regarding termination of pregnancy; Early information is crucial; Understanding the facts regarding the anomaly; Preparing for the future. Theme 2, Personal contact with medical specialists who give honest and trustworthy information is valued, containing two categories: Trust in information received from medical specialists and Truth and honesty is valued. Theme 3, An overwhelming amount of information on the Internet, containing two categories: Difficulties in finding relevant information and Easy to focus on cases with a poor outcome when searching the Internet. Conclusion Early and honest information in line with individual preferences is crucial to support the decisional process regarding whether to continue or terminate the pregnancy. The use of illustrations is recommended, as a complement to oral information, as it increases comprehension and satisfaction with obtained information. Furthermore, the overwhelming amount of information on the Internet calls for compilation of easily accessible and reliable information sources via the Internet. PMID:25692879

  12. Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis.

    PubMed

    Vinurel, N; Van Nieuwenhuyse, A; Cagneaux, M; Garel, C; Quarello, E; Brasseur, M; Picone, O; Ferry, M; Gaucherand, P; des Portes, V; Guibaud, L

    2014-03-01

    In order to illustrate the significance of a new anatomical finding, distortion of the interhemispheric fissure (DIHF) associated with impacted medial borders of the frontal lobes, we report a retrospective observational study of 13 fetuses in which DIHF was identified on prenatal imaging. In 10 cases there were associated anatomical anomalies, including mainly midline anomalies (syntelencephaly (n=2), lobar holoprosencephaly (n=1), Aicardi syndrome (n=2)), but also schizencephaly (n=1), cortical dysplasia (n=1) and more complex cerebral malformations (n=3), including neural tube defect in two cases. Chromosomal anomaly was identified in two cases, including 6p deletion in a case without associated central nervous system anomalies and a complex mosaicism in one of the cases with syntelencephaly. In two cases, the finding was apparently isolated on both pre- and postnatal imaging, and the children were doing well at follow-up, aged 4 and 5 years. The presence of DIHF on prenatal imaging may help in the diagnosis of cerebral anomalies, especially those involving the midline. If DIHF is apparently isolated on prenatal ultrasound, magnetic resonance imaging is recommended for careful analysis of gyration and midline, especially optic and olfactory structures. Karyotyping is also recommended. PMID:23640781

  13. Prenatal Diagnosis of Persistent Left Superior Vena Cava and its Clinical Significance

    PubMed Central

    Esmer, Aytül Çorbacıoğlu; Yüksel, Atıl; Çalı, Halime; Özsürmeli, Mehmet; Ömeroğlu, Rukiye Eker; Kalelioğlu, İbrahim; Has, Recep

    2014-01-01

    Background: Persistent left superior vena cava (PLSVC) is a variant of systemic venous return which is observed in 0.3% of autopsies in the general population and in 4–8% of patients with congenital heart disease. Aims: To evaluate associated cardiac, extracardiac and chromosomal anomalies in prenatally diagnosed cases of PLSVC and to review their outcome. Study Design: Retrospective comparative study. Methods: The data of patients with a prenatal diagnosis of PLSVC between May 2008 and January 2013 were reviewed retrospectively. Results: Data of 31 cases were reviewed. Fifteen (48.4%) cases were associated with cardiac defects and 17 (54.8%) cases had associated extracardiac sonographic or postpartum findings. Two fetuses had karyotype anomalies. Outcome was significantly more favorable in cases not associated with cardiac defects in comparison to those associated with cardiac anomalies (84.6% vs. 33.3%, p=0.009). All cases with isolated PLSVC survived, while among the cases associated with extracardiac anomalies, with cardiac anomalies and with both extra-cardiac and cardiac anomalies, the survival rate was 75%, 50% and 22.2%, respectively. The most frequent group of cardiac anomalies associated with PLSVC was septal defects and VSD was the most common heart defect individually, being observed in nine fetuses. Conclusion: Prenatally diagnosed PLSVC is associated with cardiac and extracardiac anomalies in the majority of cases. Outcome is significantly worse if PLSVC is associated with a cardiac defect, and the prognosis is excellent in isolated cases. PMID:25207167

  14. 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.

  15. Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay.

    PubMed

    Zhao, H; Van Diggelen, O P; Thoomes, R; Huijmans, J; Young, E; Mazurczak, T; Kleijer, W J

    1990-02-01

    A new fluorogenic substrate, 4 methylumbelliferyl beta-D-6-sulphogalactoside, was used for the assay of galactose-6-sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than the conventional assay using radiolabelled, sulphated oligosaccharides. Both types of substrate were used in the prenatal diagnosis of three pregnancies at risk for Morquio type A disease using amniocytes. These enzyme tests, as well as electrophoresis of glycosaminoglycans in the amniotic fluid, indicated affected fetuses in two pregnancies and a non-affected fetus in one. PMID:2111546

  16. 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

  17. The Italian haemophilia B mutation database: a tool for genetic counselling, carrier detection and prenatal diagnosis

    PubMed Central

    Tagariello, Giuseppe; Belvini, Donata; Salviato, Roberta; Di Gaetano, Rosanna; Zanotto, Daniela; Radossi, Paolo; Risato, Renzo; Sartori, Roberto; Tassinari, Cristina

    2007-01-01

    Introduction The Italian database of factor IX gene (F9) mutations has been built since 2001 and is, so far, the most practical instrument for comprehensive genetic counselling, carrier detection and prenatal diagnosis. Over time the haemophilia B database has been enriched by entries on a larger number of patients and molecular genetic data identifying heterogeneous mutations spanning the entire F9. Methods Conformation sensitive gel electrophoresis is a variant of heteroduplex analysis, which has been applied for screening F9 for mutations, which are further fully characterised by direct sequencing of the amplified mutated regions. This project has involved 29 Italian haemophilia centres and provides data concerning the analysis of a cohort of 306 unrelated patients with haemophilia B (191 with severe, 67 with moderate and 48 with mild disease, including 8 patients with severe haemophilia B with inhibitors). The recorded data include levels of factor IX clotting activity, inhibitor status and clinical severity. Results Detailed analysis of the mutations revealed 164 different mutations, that are considered as unique molecular events (8 large deletions, 11 small deletions, 1 combined deletion/ insertion, 2 insertions, 104 missense, 20 nonsense, 14 mutations in a splicing site, 3 in the promoter and 1 silent). The data recorded in the Italian F9 mutation database provided the basis to study 85 families with haemophilia B, involving 180 females (20 obligate carriers, 106 carriers and 54 non-carriers) and enabled 14 prenatal diagnoses to be made in 12 females. Conclusions Genetic analysis is required to determine female carrier status reliably. Female relatives may request carrier analysis, when a male relative is first diagnosed as having haemophilia or when they are pregnant. At present, the data collected in the Italian national register of mutations in haemophilia B provide the opportunity to perform prompt and precise determination of carrier status and prenatal

  18. 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

  19. Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis.

    PubMed Central

    Margarit, E; Soler, A; Carrió, A; Oliva, R; Costa, D; Vendrell, T; Rosell, J; Ballesta, F

    1998-01-01

    Cytogenetic analysis, fluorescent in situ hybridisation (FISH), and molecular amplification have been used to characterise the transfer of Yp fragments to Xp22.3 in six XX males. PCR amplification of the genes SRY, RPS4Y, ZFY, AMELY, KALY, and DAZ and of several other markers along the Y chromosome short and long arms indicated the presence of two different breakpoints in the Y fragment. However, the clinical features were very similar in five of the cases, showing a male phenotype with small testes, testicular atrophy, and azoospermia. All these patients have normal intelligence and a stature within the normal male range. In the remaining case, the diagnosis was made prenatally in a fetus with male genitalia detected by ultrasound and a 46,XX karyotype in amniocytes and fetal blood. Molecular analysis of fetal DNA showed the presence of the SRY gene. FISH techniques also showed Y chromosomal DNA on Xp22.3 in metaphases of placental cells. To our knowledge, this is the second molecular prenatal diagnosis reported of an XX male. Images PMID:9733030

  20. Consequences of Delayed Prenatal Diagnosis of β-Thalassemia in Mainland China.

    PubMed

    Li, Jian; Yan, Jin-Mei; Xie, Xing-Mei; Zhou, Jian-Ying; Li, Ru; Li, Dong-Zhi

    2016-06-01

    β-Thalassemia (β-thal) is one of the most common inherited single gene disorders in the world. The aim of this study was to describe the gestational age at prenatal diagnosis (PND) for β-thal in at-risk women in mainland China. All pregnant women at-risk for β-thal and undergoing PND at a Mainland Chinese tertiary obstetric center between January 2005 and December 2014 were included. Information required for the survey was obtained from prenatal records and delivery charts. In total, 1307 women underwent PND for β-thal. The mean gestational age for the procedure was 18.5 weeks. There were 384 (29.0%) women with fetal diagnosis in early trimester (<14 weeks), 715 (55.0%) in early second trimester (14-24 weeks), and 208 (16.0%) in late second trimester or beyond (>24 weeks). Although the proportion of patients undergoing early PND increased along with the time span, the mean n gestational age was not decreased significantly during the study period. The delay in PND deprived couples of the opportunity to make informed decisions early in pregnancy. PMID:26930109

  1. 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

  2. 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

  3. A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

    PubMed Central

    Jorge, Paula; Mota-Freitas, Maria Manuela; Santos, Rosário; Silva, Maria Luz; Soares, Gabriela; Fortuna, Ana Maria

    2014-01-01

    This report describes the trends of chorionic villus sampling (CVS) referred for prenatal genetic diagnosis in the past two and a half decades in a Portuguese Center. Our cohort of 491 CVS was mostly performed by the transcervical method at the 12th gestational week. Data collected within the framework of this study relate to the following: sampling method, referral reason versus abnormality and incidence of procedure-related pregnancy loss, that declined to about 0.5% over the last 15 years. The year 2000 represented a change in referral reasons for chorionic tissue collection, shifting from almost exclusively for cytogenetic testing to an increasing number of molecular tests for monogenic disorders. Herein, success rates as well as cytogenetic and/or molecular DNA results are presented. These latter include not only tests for several monogenic disorders, but also aneuploidy and maternal cell contamination screening. This retrospective analysis reiterates that CVS is a safe and reliable first trimester technique for prenatal diagnosis in high genetic risk pregnancies. PMID:26237480

  4. Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells.

    PubMed

    Gatti, R; Borrone, C; Filocamo, M; Pannone, N; Di Natale, P

    1985-01-01

    We investigated a case (I.I.) of the severe form of mucopolysaccharidosis I (Hurler syndrome). Prenatal diagnosis was requested by the parents and the next pregnancy was monitored. We report here a special difficulty arising in this diagnosis due to the low enzyme activity in the mother's cells (10-15 per cent of controls) as well as in amniotic cells and would like to stress the need for studying the index case as well as the parents' enzyme activities in order to be prepared for possible difficulties at prenatal analysis. PMID:3921950

  5. Prenatal Counseling, Ultrasound Diagnosis, and the Role of Maternal-Fetal Medicine of the Cleft Lip and Palate Patient.

    PubMed

    James, Jeffrey N; Schlieder, Daniel W

    2016-05-01

    A multidisciplinary team is the standard of care and the cornerstone of management of cleft patients. With readily improving advanced diagnostic modalities, early prenatal diagnosis of cleft lip and palate increasingly becomes a topic of importance for both the team caring for and families of cleft patients. Maternal-fetal medicine is a fellowship subspecialty of obstetrics that can offer high-quality care and coordination to the cleft team. Both 3-D and 4-D sonography lead to early prenatal diagnosis of cleft patients; however, differences in training result in variations in its diagnostic accuracy. PMID:26928557

  6. A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.

    PubMed

    Xu, Yan; Xiao, Bing; Jiang, Wen-Ting; Wang, Lei; Gen, Hong-Quan; Chen, Ying-Wei; Sun, Yu; Ji, Xing

    2014-11-01

    Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary renal cystic disease involving multiple organs, mainly the kidney and liver. Parents who had an affected child with ARPKD are in strong demand for an early and reliable prenatal diagnosis to guide the future pregnancies. Here we provide an example of prenatal diagnosis of an ARPKD family where traditional antenatal ultrasound examinations failed to produce conclusive results till 26th week of gestation. Compound heterozygous mutations c.274C>T (p.Arg92Trp) and c.9059T>C (p.Leu3020Pro) were identified using targeted exome sequencing in the patient and confirmed by Sanger sequencing. Further, the mother and father were revealed to be carriers of heterozygous c.274C>T and c.9059T>C mutations, respectively. Molecular prenatal diagnosis was performed for the current pregnancy by direct sequencing plus linkage analysis. Two mutations identified in the patient were both found in the fetus. In conclusion, compound heterozygous PKHD1 mutations were elucidated to be the molecular basis of the patient with ARPKD. The newly identified c.9059T>C mutation in the patient expands mutation spectrum in PKHD1 gene. For those ultrasound failed to provide clear diagnosis, we propose the new prenatal diagnosis procedure: first, screening underlying mutations in PKHD1 gene in the proband by targeted exome sequencing; then detecting causative mutations by direct sequencing in the fetal DNA and confirming results by linkage analysis. PMID:25153916

  7. 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

  8. Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

    PubMed Central

    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

  9. 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

  10. 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.

  11. FISH of uncultured amniocytes for prenatal diagnosis: Experience in 24 cases using commercially available probes

    SciTech Connect

    Weremowicz, S.; Sandstrom, M.McH.; Walsh, K.A.

    1994-09-01

    Rapid prenatal diagnosis of chromosomal aneuploidies is being requested increasingly by physicians at our institution. We report our experience in providing rapid diagnoses in prenatal samples referred following an abnormal ultrasound examination (n=22) and for confirmation of trisomy 21 prior to selective termination in a twin gestation (n=22). Uncultured amniocytes (46,XY) and cultured lymphocytes (46,SY) were used as control cells and a DXZ1 probe was hybridized separately from the test probes as a control probe. In 23 cases our FISH interpretation was concordant with the cytogenetic analysis. In one case referred to rule out trisomy 21 in which cystic hygroma was detected on ultrasound exam in a 35 y.o. G2 P1, a FISH interpretation of disomy 21 was based on 18% of cells with 1 signal, 65% with 2, 15% with 3, and 2% with 4; the large percentage of 3 signals was also reported. Cytogenetic analysis was 47,XX,+21 in 63 metaphases. Subsequent FISH analysis of metaphases revealed a large number of chromosomes 21 with only one site of hybridization that might have contributed to the discordant interpretation. Whether this result reflects population polymorphism in hybridization of this cosmid remains to be elucidated. Our findings confirm use of FISH as an invaluable adjunct to conventional cytogenetics; however, results must be interpreted cautiously until larger numbers of cases have been analyzed to detect potentially rare events.

  12. 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.

  13. 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

  14. Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease

    PubMed Central

    Garcia-Hoyos, Maria; Trujillo-Tiebas, M. Jose; Bustamante Aragonés, A.; Rodriguez de Alba, M.; Alvarez, D. Diego; Diaz-Recasens, Joaquín; Ayuso, Carmen; Ramos, Carmen

    2008-01-01

    Purpose We focused on the improvements of prenatal diagnosis by the analysis of DNA from maternal plasma, using Huntington disease as a model of disease. Methods We studied plasma from a pregnancy at risk of having a fetus affected with Huntington disease by the use of two direct analysis of the mutation and polymorphic STRs. Results Direct methods were not informative. Analysis with STRs revealed the presence of the allele that does not co-segregate with the disease, thus the fetus was healthy. Conclusions This strategy is very useful to face complex cases when the direct study is not informative not only for Huntington disease but also for many other disorders. PMID:18853247

  15. Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.

    PubMed

    Xie, H; Xie, Y; Peng, R; Li, L; Zhu, Y; Guo, J

    2016-08-01

    Harlequin ichthyosis (HI) is the most severe form of recessive congenital ichthyosis, and is frequently lethal. We describe a family with prenatal diagnosis of HI in two siblings. We applied genomic capture and massively parallel sequencing to detect all mutations in 20 genes, including ABCA12, with inherited mutations that predispose to congenital ichthyosis. Sequence analysis of the ABCA12 gene identified two mutations, c.5232 G>A (p.Trp1744*) in exon 34 and c.6443 C>A (p.Pro2148Gln) in exon 44, each in a heterozygous state. Sanger sequencing confirmed that each parent was a heterozygous carrier for one of the variants. The spectrum of mutations identified in this study and previous studies reveals a novel compound mutation of ABCA12. PMID:27381714

  16. Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay.

    PubMed

    He, W; Voznyi YaV; Huijmans, J G; Geilen, G C; Karpova, E A; Dudukina, T V; Zaremba, J; Van Diggelen, O P; Kleijer, W J

    1994-01-01

    A new fluorogenic substrate, 4-methylumbelliferyl beta-D-glucosaminide, was used for the assay of acetyl CoA:glucosaminide N-acetyltransferase in chorionic villi, cultured villus cells, and amniocytes. Optimal conditions for the assay and the ranges of enzyme activity were established for the various types of fetal cells. This simple fluorometric assay provides a reliable method for early prenatal diagnosis of Sanfilippo disease type C which is more convenient than current methods using radiolabelled substrates. The method was applied to amniotic fluid cells and fetal fibroblasts from an at-risk pregnancy in which an affected fetus was diagnosed by two-dimensional electrophoresis of glycosaminoglycans in the amniotic fluid. PMID:8183833

  17. Prenatal diagnosis by FISH of a 22q11 deletion in two families.

    PubMed Central

    Portnoï, M F; Joyé, N; Gonzales, M; Demczuk, S; Fermont, L; Gaillard, G; Bercau, G; Morlier, G; Taillemite, J L

    1998-01-01

    We report on prenatal diagnosis by FISH of a sporadic 22q11 deletion associated with DiGeorge syndrome (DGS) in two fetuses after an obstetric ultrasonographic examination detected cardiac anomalies, an interrupted aortic arch in case 1 and tetralogy of Fallot in case 2. The parents decided to terminate the pregnancies. At necropsy, fetal examination showed characteristic facial dysmorphism associated with congenital malformations, confirming full DGS in both fetuses. In addition to the 22q11 deletion, trisomy X was found in the second fetus and a reciprocal balanced translocation t(11;22) (q23;q11) was found in the clinically normal father of case 1. These findings highlight the importance of performing traditional cytogenetic analysis and FISH in pregnancies with a high risk of having a deletion. Images PMID:9507401

  18. 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

  19. 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

  20. 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.

  1. 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

  2. Translation research: from accurate diagnosis to appropriate treatment

    PubMed Central

    Webb, Craig P; Pass, Harvey I

    2004-01-01

    This review article focuses on the various aspects of translational research, where research on human subjects can ultimately enhance the diagnosis and treatment of future patients. While we will use specific examples relating to the asbestos related cancer mesothelioma, it should be stressed that the general approach outlined throughout this review is readily applicable to other diseases with an underlying molecular basis. Through the integration of molecular-based technologies, systematic tissue procurement and medical informatics, we now have the ability to identify clinically applicable "genotype"-"phenotype" associations across cohorts of patients that can rapidly be translated into useful diagnostic and treatment strategies. This review will touch on the various steps in the translational pipeline, and highlight some of the most essential elements as well as possible roadblocks that can impact success of the program. Critical issues with regard to Institutional Review Board (IRB) and Health Insurance Portability and Accountability Act (HIPAA) compliance, data standardization, sample procurement, quality control (QC), quality assurance (QA), data analysis, preclinical models and clinical trials are addressed. The various facets of the translational pipeline have been incorporated into a fully integrated computational system, appropriately named Dx2Tx. This system readily allows for the identification of new diagnostic tests, the discovery of biomarkers and drugable targets, and prediction of optimal treatments based upon the underlying molecular basis of the disease. PMID:15496233

  3. Assessing sociodemographic differences (or lack thereof) in prenatal diagnosis of congenital heart defects: a population-based study

    PubMed Central

    Khoshnood, Babak; Lelong, Nathalie; Andrieu, Thibaut; Houyel, Lucile; Bonnet, Damien; Jouannic, Jean-Marie; Goffinet, François

    2016-01-01

    Objectives Our main objective was to assess sociodemographic differences in the probability of prenatal diagnosis of congenital heart defects (CHD); we also looked at differences in termination of pregnancy for fetal anomaly (TOPFA). Design Prospective cohort observational study. Setting Population-based cohort of CHD (live births, TOPFA, fetal deaths) born to women residing in the Greater Paris area (Paris and its surrounding suburbs, N=317 538 total births). Participants 2867 cases of CHD, including 2348 (82%) live births, 466 (16%) TOPFA and 53 (2%) fetal deaths. Primary and secondary outcome measures Differences in the probability of prenatal diagnosis by maternal occupation, geographic origin and place of residence; differences in the probability of TOPFA. Results 29.1% (95% CI 27.5% to 30.8%) of all CHD were prenatally diagnosed. Probability of prenatal diagnosis was similar by maternal occupation, geographic origin and place of residence. In contrast, there were substantial differences in the probability of TOPFA by maternal geographic origin; differences by maternal occupation and place of residence were generally smaller and not statistically significant. Conclusions Our findings suggest that an appropriate health system organisation aimed at providing universal, reimbursed specialised services to all women can provide comparable access to prenatal diagnosis for all sociodemographic groups. In contrast, we found substantial differences in TOPFA for women of different geographic origins, which may reflect women's preferences that should be respected, but that can nonetheless lead to the situation where families with fewer resources will be disproportionately responsible for care of newborns with more severe forms of CHD. PMID:27009144

  4. Time of HIV Diagnosis and Engagement in Prenatal Care Impact Virologic Outcomes of Pregnant Women with HIV

    PubMed Central

    Momplaisir, Florence M.; Brady, Kathleen A.; Fekete, Thomas; Thompson, Dana R.; Diez Roux, Ana; Yehia, Baligh R.

    2015-01-01

    Background HIV suppression at parturition is beneficial for maternal, fetal and public health. To eliminate mother-to-child transmission of HIV, an understanding of missed opportunities for antiretroviral therapy (ART) use during pregnancy and HIV suppression at delivery is required. Methodology We performed a retrospective analysis of 836 mother-to-child pairs involving 656 HIV-infected women in Philadelphia, 2005-2013. Multivariable regression examined associations between patient (age, race/ethnicity, insurance status, drug use) and clinical factors such as adequacy of prenatal care measured by the Kessner index which classifies prenatal care as inadequate, intermediate, or adequate prenatal care; timing of HIV diagnosis; and the outcomes: receipt of ART during pregnancy and viral suppression at delivery. Results Overall, 25% of the sample was diagnosed with HIV during pregnancy; 39%, 38%, and 23% were adequately, intermediately, and inadequately engaged in prenatal care. Eight-five percent of mother-to-child pairs received ART during pregnancy but only 52% achieved suppression at delivery. Adjusting for patient factors, pairs diagnosed with HIV during pregnancy were less likely to receive ART (AOR 0.39, 95% CI 0.25-0.61) and achieve viral suppression (AOR 0.70, 95% CI 0.49-1.00) than those diagnosed before pregnancy. Similarly, women with inadequate prenatal care were less likely to receive ART (AOR 0.06, 95% CI 0.03-0.11) and achieve viral suppression (AOR 0.31, 95% CI 0.20-0.47) than those with adequate prenatal care. Conclusions Targeted interventions to diagnose HIV prior to pregnancy and engage HIV-infected women in prenatal care have the potential to improve HIV related outcomes in the perinatal period. PMID:26132142

  5. Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands.

    PubMed

    van Rij, M C; de Die-Smulders, C E M; Bijlsma, E K; de Wert, G M W R; Geraedts, J P; Roos, R A C; Tibben, A

    2013-02-01

    Individuals at 50% risk of Huntington's disease (HD) who prefer not to know their carrier status, might opt for exclusion prenatal diagnosis (ePND) or exclusion preimplantation genetic diagnosis (ePGD). This study aims to provide a better understanding of couples' motives for choosing ePND or ePND, and surveys couples' experiences in order to make recommendations for the improvement of counselling for exclusion testing. This qualitative retrospective interview study focussed on couples who underwent ePND or ePGD for HD in the period 1996-2010. Seventeen couples were included of which 13 had experienced ePND and 6 ePGD. Mean time-interval since exclusion-testing was 3.9 years. Couples' moral reservations regarding termination of pregnancy (TOP) or discarding healthy embryos were counterbalanced by the wish to protect their future child against HD. Seven couples had terminated a total of 11 pregnancies with a 50% HD risk, none showed regret. ePGD was used by couples who wanted to avoid (another) TOP. ePND and ePGD are acceptable reproductive options for a specific group of counsellees. To guarantee sound standards of care, it is imperative that candidate couples be given in-depth non-directive counselling about all possible scenarios, and adequate professional and psychological support prior to, during and after ePND/ePGD. PMID:23137131

  6. Fourteen-year experience of prenatal diagnosis of thalassemia in Iran.

    PubMed

    Najmabadi, Hossein; Ghamari, Alireza; Sahebjam, Farhad; Kariminejad, Roxana; Hadavi, Valeh; Khatibi, Talayeh; Samavat, Ashraf; Mehdipour, Elaheh; Modell, Bernadette; Kariminejad, Mohammand Hassan

    2006-01-01

    For 14 years, Iranian scientists have worked to develop a national thalassemia prevention program. Although historically abortion was considered unacceptable in Iran, intensive consultations led to the clerical approval of induced abortion in cases with beta-thalassemia major in 1997, and a nationwide prevention program with screening, counseling and prenatal diagnosis (PND) networks has been developed. This paper reports the experience from one of the two national PND reference laboratories. As one of the oldest reference laboratories, we performed a total of 906 PND in 360 couples at risk for thalassemia from 1990 to 2003. Direct and indirect mutation detection methods were applied for all cases. In total, 22 mutations were tested routinely, and an additional 30 rare mutations were identified. 208 fetuses were found to be normal, 215 fetuses had beta-thalassemia major, and 435 fetuses were carriers of the trait. In 40 cases, we only defined one allele. In 8 cases, we were unable to provide any diagnosis, corresponding to 0.9%. Our data support the functionality of the Iranian beta-thalassemia prevention program. The success of this system in Iran, a multiethnic and Islamic-based country, would mean that it might be applied as an adaptive system for neighboring and other Islamic countries. PMID:16612059

  7. 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. PMID:24115600

  8. 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

  9. Prenatal diagnosis by FISH in a family with Pelizaeus-Merzbacher disease caused by duplication of PLP gene.

    PubMed

    Woodward, K; Palmer, R; Rao, K; Malcolm, S

    1999-03-01

    A diagnosis of Pelizaeus-Merzbacher disease (MIM 312080) was made in a young boy. No mutation in the coding region of the proteolipid protein (PLP) gene had been found. The boy's maternal aunt came for prenatal diagnosis when 16+ weeks pregnant and carrying a male fetus. Samples were tested for duplication of the PLP gene, by interphase FISH, in lymphocyte preparations from the proband, his aunt and an amniotic fluid cell preparation from the fetus. The proband was found to carry the duplication, thus confirming the diagnosis of Pelizaeus Merzbacher disease, but neither the aunt nor the fetus carried a duplication. PMID:10210128

  10. Prenatal diagnosis of Sanfilippo A syndrome: experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay.

    PubMed

    Kleijer, W J; Karpova, E A; Geilen, G C; Keulemans, J L; Huijmans, J G; Tsvetkova, I V; Voznyi YaV; van Diggelen, O P

    1996-09-01

    We have investigated the use of a 4-methylumbelliferone (MU)-derived artificial substrate, MU-alpha-D-N-sulphoglucosaminide, for the sulphamidase assay in chorionic villi and amniotic fluid cells. In the new two-step enzyme assay, fluorescent MU is released by the successive action of endogenous sulphamidase and an added yeast enzyme preparation which hydrolyses the MU-alpha-glucosaminide intermediate. Optimal conditions for a sensitive, accurate, and convenient procedure for use in the prenatal diagnosis of Sanfilippo A syndrome are described. Previously, prenatal diagnosis of Sanfilippo A syndrome has been achieved by a radioactive sulphamidase assay in chorionic villi or in cultured amniocytes and by two-dimensional electrophoresis of glycosaminoglycans in amniotic fluid. Our experience using these methods in 35 pregnancies at risk is reported. The feasibility of the new fluorogenic assay was evaluated by retrospective testing of stored homogenates of chorionic villi and amniotic fluid cells from 22 pregnancies at risk. Unequivocal assignment of the fetal status in five affected pregnancies and 17 pregnancies with a normal outcome confirms the reliability of the new sulphamidase assay, which is in every respect more convenient than the conventional method using 35S-radiolabelled heparin. PMID:8905897

  11. 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. PMID:24768736

  12. 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

  13. Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis

    PubMed Central

    Miyano, Go; Morita, Keiichi; Kaneshiro, Masakatsu; Miyake, Hiromu; Koyama, Mariko; Nouso, Hiroshi; Yamoto, Masaya; Nakano, Reiji; Tanaka, Yasuhiko; Nishiguchi, Tomizo; Kawamura, Takakazu; Fukumoto, Koji; Urushihara, Naoto

    2015-01-01

    We describe herein a case of unilateral pulmonary agenesis (PA) with oesophageal atresia (EA)/tracheoesophageal fistula (TEF) that was diagnosed prenatally and repaired by esophagoesophagostomy with stable postoperative course. The patient was born at 34 weeks gestation, after ultrasonography at 22 weeks gestation showed possible right-sided diaphragmatic eventration or PA and EA was subsequently suspected due to hydramnios. The initial X-ray showed mediastinal shift to the right, and coil up sign of the nasogastric tube, without intracardiac anomaly. Immediately after the diagnosis of EA/TEF and unilateral PA on day 0, the patient was intubated in the operating room, and a gastrostomy tube was placed. After pulmonary status stabilized, at 4 days old, EA/TEF was repaired through a thoracotomy in the right 4th intercostal space. The right main bronchus was noted to continue into the distal oesophagus; this fistula was ligated and divided, and a single-layer esophagoesophagostomy was performed under mild tension with one vertebral gap. The neonate was maintained on mechanical ventilation and gradually weaned to extubation at 7 days old. The postoperative course was uneventful, with the exception of prolonged jaundice that emerged at 3 months old. Laparoscopic cholangiography at that time excluded biliary atresia, and jaundice resolved spontaneously. The patient has not shown any respiratory symptoms or feeding difficulties as of the 12-month follow-up. PMID:25659560

  14. Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia

    PubMed Central

    Gu, Wei; Koh, Winston; Blumenfeld, Yair J.; El-Sayed, Yasser Y.; Hudgins, Louanne; Hintz, Susan R.; Quake, Stephen R.

    2014-01-01

    Purpose Prenatal diagnosis of fetal Mendelian disorders can benefit from non-invasive approaches using fetal cell-free DNA in maternal plasma. Detecting metabolic disorders before birth can result in immediate treatment post partum in order to optimize outcome. Methods We developed a mathematical model and an experimental methodology to analyze the case of a fetus with a 25% risk of inheriting two known mutations in MUT which cause methylmalonic acidemia. To accomplish this, we measured allelic counts from the mutation sites and the fetal fraction from high minor allele frequency SNP positions. Results By counting linked alleles, the test was able to distinguish 11 positive markers from the negative controls and thereby determine whether or not the mutations carried by the parents were inherited by the fetus. For a homozygous fetus, the Z-score of the mutation site was 5.97 whereas the median Z-score of all the linked alleles was 4.56 when all negative (heterozygous) controls had a Z-score of <2.5. Conclusions The application of this methodology for diagnosing of methlymalonic acidemia shows that this approach is a cost-effective and non-invasive manner in diagnosing known mutations related to Mendelian disorders in the fetus. PMID:24406457

  15. Enzyme analysis of amniotic fluid for prenatal diagnosis of cystic fibrosis in high-risk pregnancies.

    PubMed

    Peretz, H; Chemke, J; Usher, S; Legum, C; Graff, E

    1988-12-01

    We determined the activity concentrations of alkaline phosphatase (ALP), ALP isoenzymes, gamma-glutamyltransferase (GGT), and alpha-glucosidase (AGL) in 1200 unselected amniotic fluids and in amniotic fluids from 40 pregnancies at high risk for cystic fibrosis (CF). From the results we established the normal range and CF-predictive cutoff values for these enzymes in the second trimester of pregnancy. In all predicted normal pregnancies that went to term, normal children were born. Among the predicted affected pregnancies, 14 were terminated and two went to term, one resulting in a CF-affected child and the other in a healthy child. Evidence for CF was found in all 13 aborted fetuses examined (the parents of one refused to allow autopsy). We noted no differences in the amniotic fluid enzyme activities for the Arab and various Jewish ethnic groups living in Israel. We conclude that prenatal diagnosis of CF among the Israeli population at risk for CF is feasible by means of a reliable, fast, and economic test in the second trimester of pregnancy. PMID:2904307

  16. Prenatal diagnosis of X-linked adrenoleukodystrophy combining biochemical, immunocytochemical and DNA analyses.

    PubMed

    Maier, E M; Roscher, A A; Kammerer, S; Mehnert, K; Conzelmann, E; Holzinger, A

    1999-04-01

    Amniocentesis was performed at 17 weeks' gestation on a 39-year-old woman at risk of being a carrier for X-linked adrenoleukodystrophy (X-ALD). Her first son had been affected with childhood cerebral X-ALD and had died at the age of nine years. DNA analysis had not been performed nor was any material available. The amniotic fluid cells (AFC) karyotype was found to be male and initial determination of very long chain fatty acids (VLCFA) in cultured amniocytes revealed borderline values. As an alternative strategy the complete coding region of the ALD gene was amplified and sequenced using DNA isolated from both AFC and maternal leukocytes as templates. Sequencing of the mother's DNA revealed the heterozygous pattern of a 2 bp deletion in exon 5, the most frequent individual mutation leading to X-ALD. It has previously been described to result in a complete loss of protein. This deletion was excluded in the fetus. Accordingly, ALDP was readily detected in AFC by immunofluorescence. We conclude that under circumstances of incomplete data about the index case the combination of methods, namely DNA analysis of the heterozygous mother, and biochemical, immunocytochemical and DNA analyses in fetal cells can secure a reliable prenatal diagnosis of X-ALD. PMID:10327143

  17. 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

  18. 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. PMID:17036441

  19. 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. PMID:25307798

  20. Comprehensive maternal serum proteomics identifies the cytoskeletal proteins as non-invasive biomarkers in prenatal diagnosis of congenital heart defects

    PubMed Central

    Chen, Lizhu; Gu, Hui; Li, Jun; Yang, Ze-Yu; Sun, Xiao; Zhang, Li; Shan, Liping; Wu, Lina; Wei, Xiaowei; Zhao, Yili; Ma, Wei; Zhang, Henan; Cao, Songying; Huang, Tianchu; Miao, Jianing; Yuan, Zhengwei

    2016-01-01

    Congenital heart defects (CHDs) are the most common group of major birth defects. Presently there are no clinically used biomarkers for prenatally detecting CHDs. Here, we performed a comprehensive maternal serum proteomics assessment, combined with immunoassays, for the discovery of non-invasive biomarkers for prenatal diagnosis of CHDs. A total of 370 women were included in this study. An isobaric tagging for relative and absolute quantification (iTRAQ) proteomic approach was used first to compare protein profiles in pooled serum collected from women who had CHD-possessing or normal fetuses, and 47 proteins displayed significant differential expressions. Targeted verifications were performed on 11 proteins using multiple reaction monitoring mass spectrometry (MRM-MS), and the resultant candidate biomarkers were then further validated using ELISA analysis. Finally, we identified a biomarker panel composed of 4 cytoskeletal proteins capable of differentiating CHD-pregnancies from normal ones [with an area under the receiver operating characteristic curve (AUC) of 0.938, P < 0.0001]. The discovery of cytoskeletal protein changes in maternal serum not only could help us in prenatal diagnosis of CHDs, but also may shed new light on CHD embryogenesis studies. PMID:26750556

  1. Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12

    PubMed Central

    Tezcan, Berrin; Bredaki, Foteini Emmanouella

    2015-01-01

    Case Details. We report rare familial unbalanced translocation of chromosomes 7 and 12, which was diagnosed prenatally at 20+3 weeks of gestation. Woman's partner had been tested in the past and was found to be a carrier of a balanced translocation; his karyotype showed a balanced reciprocal translocation of 46, XY, t(7;12)(q34;q24,32). Partner's brother had an unbalanced form of the translocation with severe learning disability. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound and microarray analysis. Ultrasonography findings included fetal microcephaly and alobar holoprosencephaly, dysmorphic face (flat occiput, absent nasal bone, microphthalmia, hypotelorism, and single nostril), and hyperechogenic bowel. Genome-wide array analysis and cytogenetic results from the amniotic fluid showed unbalanced translocation in chromosomes 7 and 12 with deletion of an approximately 16.5 Mb and a duplication of 6.1 Mb, respectively, Arr 7q34q36.3(142,668,576-159,161,648)x1,12q24.32q24.33(127,708,720-133,777,560)x3, karyotype (der (7) t(7;12) (q34;q24)pat). This unbalanced translocation was due to the segregation of the father's balanced translocation. In this particular case, the recurrence of an unbalanced translocation in the subsequent pregnancies is estimated to be 20%. Understanding the individuals' phenotype in association with the gain and loss of copy number is important and can further provide us with information on that particular region of the named chromosomes. PMID:26294991

  2. Prenatal diagnosis of tetralogy of Fallot with a double aortic arch.

    PubMed

    Cheng, Andrew L; Pruetz, Jay D; Kung, Grace C

    2016-06-01

    In this study, we present a case of prenatally diagnosed tetralogy of Fallot with a double aortic arch, correlating images from fetal echocardiography, transthoracic echocardiography, and cardiac MRI. PMID:26983561

  3. [Monitoring pregnant patients from risk countries with sickle cell disease and thalassemia. Clinical aspects, screening and prenatal diagnosis].

    PubMed

    Dickerhoff, R; Kulozik, A E; Kohne, E

    1993-04-01

    At the present time, about 3.5 million people from Turkey, Greece, Italy, the Middle East, Africa and Asia are living in Germany. They are potential carriers of beta-thalassaemia and haemoglobinopathies such as sickle cell disease. These diseases are new for most of us and represent a challenge to physicians, taking care of these patients. Not only do we have to learn about the clinical problems of homozygous patients and how to handle them, we also have to become acquainted with the problems related to the heterozygous carrier stage. The large number of asymptomatic pregnant carriers of beta-globin anomalies is a particular challenge for obstetricians. They need to identify carriers through haemoglobin electrophoresis screening, inform the carrier about the meaning of being a carrier, screen the woman's partner, refer for genetic counselling and suggest and explain prenatal diagnosis in case the partner is also a carrier. There is as yet no cure for thalassaemia and sickle cell disease, except for bone marrow transplantation in a few selected cases. Therefore, prenatal diagnosis presents a valuable method of preventing severe chronic diseases. Screening does not only allow genetic counselling, the information gained has also clinical implications for carriers of beta-thalassaemia. In this paper a summary is given of the pathophysiological and clinical features of thalassaemia and sickle cell disease and molecular biology methods to diagnose thalassaemias and sickle cell disease are discussed. In addition, a screening programme for pregnant women from countries at risk is suggested to enable physicians to give optimal care and initiate prenatal diagnosis. PMID:8491363

  4. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

    PubMed

    Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke Eh; Braz, Paula; Draper, Elizabeth S; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Verellen-Dumoulin, Christine

    2015-06-01

    Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100,000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3 ± 2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies. PMID:25182137

  5. Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

    PubMed Central

    Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke EH; Braz, Paula; Draper, Elizabeth S; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Verellen-Dumoulin, Christine

    2015-01-01

    Meckel–Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3±2.6 (range 11–36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies. PMID:25182137

  6. 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

  7. Advanced tests for early and accurate diagnosis of Creutzfeldt-Jakob disease.

    PubMed

    Zanusso, Gianluigi; Monaco, Salvatore; Pocchiari, Maurizio; Caughey, Byron

    2016-06-01

    Early and accurate diagnosis of Creutzfeldt-Jakob disease (CJD) is a necessary to distinguish this untreatable disease from treatable rapidly progressive dementias, and to prevent iatrogenic transmission. Currently, definitive diagnosis of CJD requires detection of the abnormally folded, CJD-specific form of protease-resistant prion protein (PrP(CJD)) in brain tissue obtained postmortem or via biopsy; therefore, diagnosis of sporadic CJD in clinical practice is often challenging. Supporting investigations, including MRI, EEG and conventional analyses of cerebrospinal fluid (CSF) biomarkers, are helpful in the diagnostic work-up, but do not allow definitive diagnosis. Recently, novel ultrasensitive seeding assays, based on the amplified detection of PrP(CJD), have improved the diagnostic process; for example, real-time quaking-induced conversion (RT-QuIC) is a sensitive method to detect prion-seeding activity in brain homogenate from humans with any subtype of sporadic CJD. RT-QuIC can also be used for in vivo diagnosis of CJD: its diagnostic sensitivity in detecting PrP(CJD) in CSF samples is 96%, and its specificity is 100%. Recently, we provided evidence that RT-QuIC of olfactory mucosa brushings is a 97% sensitive and 100% specific for sporadic CJD. These assays provide a basis for definitive antemortem diagnosis of prion diseases and, in doing so, improve prospects for reducing the risk of prion transmission. Moreover, they can be used to evaluate outcome measures in therapeutic trials for these as yet untreatable infections. PMID:27174240

  8. Differentially Expressed MicroRNAs in Maternal Plasma for the Noninvasive Prenatal Diagnosis of Down Syndrome (Trisomy 21)

    PubMed Central

    Moftah, Reham Fadl Hassan; Burow, Martin; Thiel, Gundula; Stuke-Sontheimer, Annegret; Chaoui, Rabih; Salama, Abdulgabar

    2014-01-01

    Objectives. Most developmental processes are under the control of small regulatory RNAs called microRNAs (miRNAs). We hypothesize that different fetal developmental processes might be reflected by extracellular miRNAs in maternal plasma and may be utilized as biomarkers for the noninvasive prenatal diagnosis of chromosomal aneuploidies. In this proof-of-concept study, we report on the identification of extracellular miRNAs in maternal plasma of Down syndrome (DS) pregnancies. Methods. Using high-throughput quantitative PCR (HT-qPCR), 1043 miRNAs were investigated in maternal plasma via comparison of seven DS pregnancies with age and fetal sex matched controls. Results. Six hundred and ninety-five miRNAs were identified. Thirty-six significantly differentially expressed mature miRNAs were identified as potential biomarkers. Hierarchical cluster analysis of these miRNAs resulted in the clear discrimination of DS from euploid pregnancies. Gene targets of the differentially expressed miRNAs were enriched in signaling pathways such as mucin type-O-glycans, ECM-receptor interactions, TGF-beta, and endocytosis, which have been previously associated with DS. Conclusions. miRNAs are promising and stable biomarkers for a broad range of diseases and may allow a reliable, cost-efficient diagnostic tool for the noninvasive prenatal diagnosis of DS. PMID:25478570

  9. 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

  10. 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.…

  11. 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.

  12. 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

  13. 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 ...

  14. 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 ...

  15. 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

  16. Experience with Carrier Screening and Prenatal Diagnosis for Sixteen Ashkenazi Jewish Genetic Diseases

    PubMed Central

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

    2010-01-01

    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

  17. 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. PMID:23269230

  18. Clinical Practice Guideline for Accurate Diagnosis and Effective Treatment of Gastrointestinal Stromal Tumor in Korea

    PubMed Central

    Kim, Kyoung-Mee; Sohn, Taesung; Choi, Dongil; Kang, Hye Jin; Ryu, Min-Hee; Kim, Woo Ho; Yang, Han-Kwang

    2010-01-01

    Despite the rarity in incidence and prevalence, gastrointestinal stromal tumor (GIST) has emerged as a distinct pathogenetic entity. And the clinical management of GIST has been evolving very rapidly due to the recent recognition of its oncogenic signal transduction pathway and the introduction of new molecular-targeted therapy. Successful management of GIST requires a multidisciplinary approach firmly based on accurate histopathologic diagnosis. However, there was no standardized guideline for the management of Korean GIST patients. In 2007, the Korean GIST study group (KGSG) published the first guideline for optimal diagnosis and treatment of GIST in Korea. As the second version of the guideline, we herein have updated recent clinical recommendations and reflected changes in diagnosis, surgical and medical treatments for more optimal clinical practice for GIST in Korea. We hope the guideline can be of help in enhancing the quality of diagnosis by members of the Korean associate of physicians involving in GIST patients's care and subsequently in achieving optimal efficacy of treatment. PMID:21060741

  19. Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis.

    PubMed

    Longo, G; Russo, S; Novelli, G; Sangiuolo, F; D'Apice, M R

    2016-01-01

    X-linked myotubular myopathy (XLMTM) is a congenital neuromuscular disorder defined by severe hypotonia, respiratory failure and histopathologic changes in muscle biopsy. The objective of this report is to inform about our experience of genetic analysis on a group of 25 unrelated XLMTM patients, clinically diagnosed by several Italian and European Medical Institutes from 2006 to 2015. The molecular strategy used for genotyping involved Sanger sequencing of coding and intron/exon regions and the Multiplex Ligation Probe Amplification method. A total of 13 different point variants (6 nonsense, 5 missense, 1 splicing and 1 small deletion) were found in 15 patients (60%). Three were new missense variants: c.185G>T p.(Arg62Ile), c.719T>A p.(Val240Glu), and c.1262G>T p.(Arg421Leu). No large duplications/deletions have been identified. We performed carrier testing of at-risk female relatives. Only one mutation was de novo. Successively, we offered XLMTM prenatal testing for seven pregnancies in five unrelated families. In this context, the aim to propose an effective molecular diagnostic service is to confirm clinical XLMTM diagnosis, to monitor the cause-disease mutation segregation in the family and to offer genetic counseling to have correct information regarding offspring risks and the prenatal testing. PMID:26338224

  20. 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.…

  1. An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing

    PubMed Central

    Li, Haibo; Ding, Jie; Wen, Ping; Zhang, Qin; Xiang, Jingjing; Li, Qiong; Xuan, Liming; Kong, Lingyin; Mao, Yan; Zhu, Yijun; Shen, Jingjing; Liang, Bo; Li, Hong

    2016-01-01

    Massively parallel sequencing (MPS) combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs) by sequencing cell-free fetal DNA (cffDNA) from maternal plasma, so-called non-invasive prenatal testing (NIPT). However, many technical challenges, such as dependency on correct fetal sex prediction, large variations of chromosome Y measurement and high sensitivity to random reads mapping, may result in higher false negative rate (FNR) and false positive rate (FPR) in fetal sex prediction as well as in SCAs detection. Here, we developed an optimized method to improve the accuracy of the current method by filtering out randomly mapped reads in six specific regions of the Y chromosome. The method reduces the FNR and FPR of fetal sex prediction from nearly 1% to 0.01% and 0.06%, respectively and works robustly under conditions of low fetal DNA concentration (1%) in testing and simulation of 92 samples. The optimized method was further confirmed by large scale testing (1590 samples), suggesting that it is reliable and robust enough for clinical testing. PMID:27441628

  2. An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing.

    PubMed

    Wang, Ting; He, Quanze; Li, Haibo; Ding, Jie; Wen, Ping; Zhang, Qin; Xiang, Jingjing; Li, Qiong; Xuan, Liming; Kong, Lingyin; Mao, Yan; Zhu, Yijun; Shen, Jingjing; Liang, Bo; Li, Hong

    2016-01-01

    Massively parallel sequencing (MPS) combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs) by sequencing cell-free fetal DNA (cffDNA) from maternal plasma, so-called non-invasive prenatal testing (NIPT). However, many technical challenges, such as dependency on correct fetal sex prediction, large variations of chromosome Y measurement and high sensitivity to random reads mapping, may result in higher false negative rate (FNR) and false positive rate (FPR) in fetal sex prediction as well as in SCAs detection. Here, we developed an optimized method to improve the accuracy of the current method by filtering out randomly mapped reads in six specific regions of the Y chromosome. The method reduces the FNR and FPR of fetal sex prediction from nearly 1% to 0.01% and 0.06%, respectively and works robustly under conditions of low fetal DNA concentration (1%) in testing and simulation of 92 samples. The optimized method was further confirmed by large scale testing (1590 samples), suggesting that it is reliable and robust enough for clinical testing. PMID:27441628

  3. 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. PMID:9807244

  4. 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. PMID:22453293

  5. Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis

    PubMed Central

    2011-01-01

    Background Small supernumerary marker chromosomes (sSMC) are extra structurally abnormal chromosomes that cannot be unambiguously identified with conventional chromosome banding techniques. These marker chromosomes may cause an abnormal phenotype or be harmless depending on different factors such as genetic content, chromosomal origin and level of mosaicism. When a sSMC is found during prenatal diagnosis, the main question is whether the sSMC contains euchromatin since in most cases this will lead to phenotypic abnormalities. We present the use of Multiplex Ligation Dependent probe Amplification (MLPA) for rapid distinction between non-euchromatic and euchromatic sSMC. Results 29 well-defined sSMC found during prenatal diagnosis were retrospectively investigated with MLPA with the SALSA MLPA centromere kits P181 and P182 as well as with the SALSA MLPA telomere kits P036B and P070 (MRC Holland BV, Amsterdam, The Netherlands). All unique-sequence positive sSMC were correctly identified with MLPA, whereas the unique-sequence negative sSMC had normal MLPA results. Conclusions Although different techniques exist for identification of sSMC, we show that MLPA is a valuable adjunctive tool for rapidly distinguishing between unique-sequence positive and negative sSMC. In case of positive MLPA results, genetic microarray analysis or, if not available, targeted FISH can be applied for further identification and determination of the exact breakpoints, which is important for prediction of the fetal phenotype. In case of a negative MLPA result, which means that the sSMC most probably does not contain genes, the parents can already be reassured and parental karyotyping can be initiated to assess the heritability. In the mean time, FISH techniques are needed for determination of the chromosomal origin. PMID:21235775

  6. Urinary PCR as an increasingly useful tool for an accurate diagnosis of leptospirosis in livestock.

    PubMed

    Hamond, C; Martins, G; Loureiro, A P; Pestana, C; Lawson-Ferreira, R; Medeiros, M A; Lilenbaum, W

    2014-03-01

    The aim of the present study was to consider the wide usage of urinary PCR as an increasingly useful tool for an accurate diagnosis of leptospirosis in livestock. A total of 512 adult animals (300 cattle, 138 horses, 59 goats and 15 pigs), from herds/flocks with reproductive problems in Rio de Janeiro, Brazil was studied by serology and urinary PCR. From the 512 serum samples tested, 223 (43.5 %) were seroreactive (cattle: 45.6 %, horses: 41.3 %, goats: 34%and pigs: 60 %). PCR detected leptospiral DNA in 32.4 % (cattle: 21.6 %, horses: 36.2 %, goats: 77.4 % and pigs: 33.3 %. To our knowledge there is no another study including such a large number of samples (512) from different species, providing a comprehensive analysis of the usage of PCR for detecting leptospiral carriers in livestock. Serological and molecular results were discrepant, regardless the titre, what was an expected outcome. Nevertheless, it is impossible to establish agreement between these tests, since the two methodologies are conducted on different samples (MAT - serum; PCR - urine). Additionally, the MAT is an indirect method and PCR is a direct one. In conclusion, we have demonstrated that urinary PCR should be considered and encouraged as an increasingly useful tool for an accurate diagnosis of leptospirosis in livestock. PMID:24222053

  7. Pregnancy continuation and organizational religious activity following prenatal diagnosis of a lethal fetal defect are associated with improved psychological outcome†

    PubMed Central

    Cope, Heidi; Garrett, Melanie E.

    2016-01-01

    Objective The aim of the article is to examine the psychological impact, specifically symptoms of grief, post-traumatic stress and depression, in women and men who either terminated or continued a pregnancy following prenatal diagnosis of a lethal fetal defect. Method This project investigated a diagnostically homogeneous group composed of 158 women and 109 men who lost a pregnancy to anencephaly, a lethal neural tube defect. Participants completed the Perinatal Grief Scale, Impact of Event Scale – Revised and Beck Depression Inventory-II, which measure symptoms of grief, post-traumatic stress and depression, respectively. Demographics, religiosity and pregnancy choices were also collected. Gender-specific analysis of variance was performed for instrument total scores and subscales. Results Women who terminated reported significantly more despair (p = 0.02), avoidance (p = 0.008) and depression (p = 0.04) than women who continued the pregnancy. Organizational religious activity was associated with a reduction in grief (Perinatal Grief Scale subscales) in both women (p = 0.02, p = 0.04 and p = 0.03) and men (p = 0.047). Conclusion There appears to be a psychological benefit to women to continue the pregnancy following a lethal fetal diagnosis. Following a lethal fetal diagnosis, the risks and benefits, including psychological effects, of termination and continuation of pregnancy should be discussed in detail with an effort to be as nondirective as possible. PMID:25872901

  8. Fetal bronchoscopy as a useful procedure in a case with prenatal diagnosis of congenital microcystic adenomatoid malformation.

    PubMed

    Cruz-Martinez, Rogelio; Méndez, Antonio; Perez-Garcilita, Oscar; Monroy, Araceli; Aguilar-Vidales, Karla; Cruz-Martinez, Miriam Alejandra; Martinez-Morales, Cecilia

    2015-01-01

    Massive microcystic congenital cystic adenomatoid malformation (CCAM) and bronchial atresia are associated with a high perinatal mortality secondary to lung hypoplasia and cardiac dysfunction, and fetal intervention should be considered to improve prognosis. Therapeutic options include open fetal surgery with pulmonary resection, fetal sclerotherapy and fetoscopy. We present a case with a severely enlarged left lung without ultrasound signs of dilated airways compatible with the diagnosis of microcystic CCAM, hydrops and severe contralateral lung hypoplasia that was treated successfully at 30 weeks of gestation by fetal bronchoscopy, through which bronchial atresia was identified at the end of the left mainstem bronchi and permeabilized by laser ablation. After fetal surgery, weekly follow-up showed a progressive decrease in the affected lung size and an increase in the contralateral hypoplastic lung size, demonstrating normal dimensions of both lungs at 34 weeks of gestation, reversal of the mediastinal shift, and complete disappearance of hydrops. A healthy neonate was delivered uneventfully at term with no need for respiratory support, and the boy is now doing well at 15 months of age. This report demonstrates that in cases with prenatal diagnosis of large microcystic CCAM, fetal bronchoscopy can be used to refine the diagnosis of bronchial atresia and as a therapeutic tool with good outcome. PMID:25138479

  9. MicroRNA-200 Family Profile: A Promising Ancillary Tool for Accurate Cancer Diagnosis

    PubMed Central

    Liu, Xiaodong; Zhang, Jianhua; Xie, Botao; Li, Hao; Shen, Jihong; Chen, Jianheng

    2016-01-01

    Cancer is one of the most threatening diseases in the world and great interests have been paid to discover accurate and noninvasive methods for cancer diagnosis. The value of microRNA-200 (miRNA-200, miR-200) family has been revealed in many studies. However, the results from various studies were inconsistent, and thus a meta-analysis was designed and performed to assess the overall value of miRNA200 in cancer diagnosis. Relevant studies were searched electronically from the following databases: PubMed, Embase, Web of Science, the Cochrane Library, and Chinese National Knowledge Infrastructure. Keyword combined with “miR-200,” “cancer,” and “diagnosis” in any fields was used for searching relevant studies. Then, the pooled sensitivity, specificity, area under the curve (AUC), and partial AUC were calculated using the random-effects model. Heterogeneity among individual studies was also explored by subgroup analyses. A total of 28 studies from 18 articles with an overall sample size of 3676 subjects (2097 patients and 1579 controls) were included in this meta-analysis. The overall sensitivity and specificity with 95% confidence intervals (95% CIs) are 0.709 (95% CI: 0.657–0.755) and 0.667 (95% CI: 0.617–0.713), respectively. Additionally, AUC and partial AUC for the pooled data is 0.735 and 0.627, respectively. Subgroup analyses revealed that using miRNA-200 family for cancer diagnosis is more effective in white than in Asian ethnic groups. In addition, cancer diagnosis by miRNA using circulating specimen is more effective than that using noncirculating specimen. Finally, miRNA is more accurate in diagnosing endometrial cancer than other types of cancer, and some miRNA family members (miR-200b and miR-429) have superior diagnostic accuracy than other miR-200 family members. In conclusion, the profiling of miRNA-200 family is likely to be a valuable tool in cancer detection and diagnosis. PMID:26618619

  10. Prenatal Diagnosis and Postnatal Ultrasound Findings of Cloacal Anomaly: A Case Report

    PubMed Central

    Rios, Lívia Teresa Moreira; Araujo Júnior, Edward; Nardozza, Luciano Marcondes Machado; Caetano, Ana Carolina Rabachini; Moron, Antonio Fernandes; Martins, Marília da Glória

    2012-01-01

    Cloacal malformation is an extremely rare fetal pathological condition that presents as a variety of defects. It predominantly affects females, with prevalence of 1 in 50,000 births. Prenatal ultrasonography on a 20-year-old caucasian woman (G4P1A2) at 33 weeks of pregnancy showed the fetus having a large cystic mass in the lower abdomen with a single septum, bilateral hydronephrosis, ambiguous genitalia, and a single umbilical artery. The pregnancy developed accentuated oligohydramnios, and presence of a fetal brain-sparing effect was diagnosed using arterial Doppler velocimetry. The newborn showed abdominal distension, ambiguous genitalia, and rectal atresia, with a single perineal opening. Pelvic ultrasound done on the first day after delivery revealed the presence of a large retrovesical septated cystic mass of dense content in the fetal abdomen, and bilateral hydronephrosis. Hysterotomy was performed, and 70 mL of dense liquid was drained through an abdominal colostomy. The infant died on the 27th day of life as a result of infectious complications. Prenatal diagnosing of female urogenital anomalies is usually difficult because of their rarity, different types of manifestation, and lack of characteristic ultrasound signs. Presence of a septated cyst with dense content in the fetal abdomen confirms the finding of hydrometrocolpos, thus raising clinical suspicion of a cloacal anomaly. PMID:23091766

  11. Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.

    PubMed Central

    Schleutker, J; Sistonen, P; Aula, P

    1996-01-01

    Salla disease (SD) is an autosomal recessive disorder in which free sialic acid (N-acetyl neuraminic acid) accumulates in lysosomes. A specific transport mechanism for acidic monosaccharides on the lysosomal membrane has recently been described, but the molecular deficiency causing SD is still unknown. We have previously mapped the SD gene to 6q14-q15 by means of genetic linkage analysis and restricted the positive chromosomal area to less than 100 kb with linkage disequilibrium mapping. The two best allelic association markers have now retrospectively been used in five prenatal analyses originally studied with sialic acid assays in chorionic villus specimens. In four cases an unaffected fetus was predicted with a probability level of more than 94%, which was in concordance with the biochemical data. One fetus was predicted to be affected with over 96% probability, as was shown by free sialic acid assays in a CVS sample and in fetal tissues after termination of the pregnancy. Risk calculations incorporating disequilibrium were also used to predict the carrier status in members of six families with previous SD cases, and also in a few cases with no known family history of SD. DNA marker based analysis thus provides a reliable method for risk estimations in prenatal cases and for carrier identification of SD. PMID:8825046

  12. Is the "I-Sign" in the 3-Vessel and Trachea View a Valid Tool for Prenatal Diagnosis of D-Transposition of the Great Arteries?

    PubMed

    Palatnik, Anna; Gotteiner, Nina L; Grobman, William A; Cohen, Leeber S

    2015-07-01

    Prenatal diagnosis of D-transposition of the great arteries remains less frequent compared to other major congenital heart defects. In this study, we examined how often the 3-vessel and trachea view was abnormal in a large series of prenatally diagnosed cases of D-transposition of the great arteries. We found that an abnormal 3-vessel and trachea view in the shape of an "I" ("I-sign"), which represents an anteriorly displaced aorta, was present in all fetuses with D-transposition of the great arteries when a 3-vessel and trachea view was successfully obtained. Therefore we believe that the 3-vessel and trachea view can be used to reliably detect D-transposition of the great arteries during prenatal sonography. PMID:26112638

  13. The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis

    PubMed Central

    Papageorgiou, Elisavet A.; Koumbaris, George; Kypri, Elena; Hadjidaniel, Michael; Patsalis, Philippos C.

    2014-01-01

    Epigenetic modifications have proven to play a significant role in cancer development, as well as fetal development. Taking advantage of the knowledge acquired during the last decade, great interest has been shown worldwide in deciphering the fetal epigenome towards the development of methylation-based non-invasive prenatal tests (NIPT). In this review, we highlight the different approaches implemented, such as sodium bisulfite conversion, restriction enzyme digestion and methylated DNA immunoprecipitation, for the identification of differentially methylated regions (DMRs) between free fetal DNA found in maternal blood and DNA from maternal blood cells. Furthermore, we evaluate the use of selected DMRs identified towards the development of NIPT for fetal chromosomal aneuploidies. In addition, we perform a comparison analysis, evaluate the performance of each assay and provide a comprehensive discussion on the potential use of different methylation-based technologies in retrieving the fetal methylome, with the aim of further expanding the development of NIPT assays. PMID:24722507

  14. Towards an expert system for accurate diagnosis and progress monitoring of Parkinson's disease.

    PubMed

    Alexiou, Athanasios; Psiha, Maria; Vlamos, Panayiotis

    2015-01-01

    While Parkinson's disease is a chronic and progressive movement disorder, no one can predict which symptoms will affect an individual patient. At the present time there is no cure for Parkinson's disease but instead a variety of alternative treatments provide relief from the symptoms. Due to these unpromising factors, we propose a new multi-scale ontology-based modeling technology for the accurate diagnosis of Parkinson's disease and its progress monitoring. The proposed model will be used to assess the status of the patient with PD corresponding treatments using a multilayer neural network. The proposed tool also aims to identify new associated physical and biological biomarkers from heterogeneous patients' data. The architecture of this expert system and its implementation in Protégé is presented in this paper. PMID:25416985

  15. Barriers to accurate diagnosis and effective management of heart failure in primary care: qualitative study

    PubMed Central

    Fuat, Ahmet; Hungin, A Pali S; Murphy, Jeremy James

    2003-01-01

    Objective To ascertain the beliefs, current practices, and decision making of general practitioners in the diagnosis and management of suspected heart failure in primary care, with a view to identifying barriers to good care. Design A qualitative approach using focus groups with 30 general practitioners from four primary care groups. The sampling strategy was stratified and purposive. The contents of interviews were transcribed and analysed according to the principles of “pragmatic variant” grounded theory. Setting North east England. Results Three categories of difficulties contribute to variations in medical practice and to the reasons why general practitioners experience difficulties in diagnosing and managing heart failure. The first is uncertainty about clinical practice, including lack of confidence in establishing an accurate diagnosis and worries about using angiotensin converting enzyme inhibitors, β blockers, and spironolactone in patients who are often elderly and frail, with comorbidity and polypharmacy. The second is a lack of awareness of relevant research evidence in what was perceived to be a complex and rapidly changing therapeutic field. Doubts about the applicability of research findings in primary care, and fear of information overload also emerged. The third category consists of influences of individual preference and local organisational factors. Medical training, negative clinical experiences, and outside agencies influenced the behaviour of general practitioners and professional culture. Local factors included the availability of diagnostic services, resources (such as accessible cardiologists), and interactions between professionals in primary or secondary care, and they seemed to shape the practice and decision making processes in primary care. Conclusions The national service framework for coronary heart disease stresses that the substandard care of patients with heart failure is unacceptable. This study identified barriers to be

  16. Simple, rapid and accurate molecular diagnosis of acute promyelocytic leukemia by loop mediated amplification technology

    PubMed Central

    Spinelli, Orietta; Rambaldi, Alessandro; Rigo, Francesca; Zanghì, Pamela; D'Agostini, Elena; Amicarelli, Giulia; Colotta, Francesco; Divona, Mariadomenica; Ciardi, Claudia; Coco, Francesco Lo; Minnucci, Giulia

    2015-01-01

    The diagnostic work-up of acute promyelocytic leukemia (APL) includes the cytogenetic demonstration of the t(15;17) translocation and/or the PML-RARA chimeric transcript by RQ-PCR or RT-PCR. This latter assays provide suitable results in 3-6 hours. We describe here two new, rapid and specific assays that detect PML-RARA transcripts, based on the RT-QLAMP (Reverse Transcription-Quenching Loop-mediated Isothermal Amplification) technology in which RNA retrotranscription and cDNA amplification are carried out in a single tube with one enzyme at one temperature, in fluorescence and real time format. A single tube triplex assay detects bcr1 and bcr3 PML-RARA transcripts along with GUS housekeeping gene. A single tube duplex assay detects bcr2 and GUSB. In 73 APL cases, these assays detected in 16 minutes bcr1, bcr2 and bcr3 transcripts. All 81 non-APL samples were negative by RT-QLAMP for chimeric transcripts whereas GUSB was detectable. In 11 APL patients in which RT-PCR yielded equivocal breakpoint type results, RT-QLAMP assays unequivocally and accurately defined the breakpoint type (as confirmed by sequencing). Furthermore, RT-QLAMP could amplify two bcr2 transcripts with particularly extended PML exon 6 deletions not amplified by RQ-PCR. RT-QLAMP reproducible sensitivity is 10−3 for bcr1 and bcr3 and 10−2 for bcr2 thus making this assay particularly attractive at diagnosis and leaving RQ-PCR for the molecular monitoring of minimal residual disease during the follow up. In conclusion, PML-RARA RT-QLAMP compared to RT-PCR or RQ-PCR is a valid improvement to perform rapid, simple and accurate molecular diagnosis of APL. PMID:25815362

  17. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

    PubMed

    Kogan, S C; Doherty, M; Gitschier, J

    1987-10-15

    We report the development of a rapid nonradioactive technique for the genetic prediction of human disease and its diagnostic application to hemophilia A. This method is based on enzymatic amplification of short segments of human genes associated with inherited disorders. A novel feature of the procedure is the use of a heat-stable DNA polymerase, which allows the repeated rounds of DNA synthesis to proceed at 63 degrees C. The high sequence specificity of the amplification reaction at this elevated temperature permits restriction-site polymorphisms, contained in the amplified samples, to be analyzed by visual inspection of their digestion products on polyacrylamide gels. By means of this method, we have performed carrier detection and prenatal diagnosis of hemophilia in two families with use of the factor VIII intragenic polymorphisms identified by the restriction enzymes BclI and XbaI. Predictions can be made directly from chorionic villi, without previous DNA extraction, and fetal sex can be determined by amplification of sequences specific for the Y chromosome. Specific amplification of genomic sequences with heat-stable DNA polymerase is applicable to the diagnosis of a wide variety of inherited disorders. These include diseases diagnosed by restriction-site variation, such as Duchenne's muscular dystrophy and sickle cell anemia, those due to a collection of known mutations, such as beta-thalassemia, and those due to gene deletion, such as alpha-thalassemia. PMID:3657865

  18. [Postnatal echography and cystography after prenatal diagnosis of minor dilatation of the kidney pelvis. Prospective study of 89 cases].

    PubMed

    Devaussuzenet, V; Dacher, J N; Eurin, D; Monroc, M; Le Dosseur, P

    1997-01-01

    We evaluated postnatal management after the prenatal diagnosis of moderate dilatation of the renal pelvis (antero-posterior diameter superior to 1 mm per month of pregnancy and inferior to 15 mm at full term). Eighty-nine neonates who had a moderate dilatation in utero were evaluated by ultrasound and voiding cysto-urethrography. Ultrasound was performed between day 2 and day 7 in 83 cases, after day 7 in 6 cases. Voiding cysto-urethrography was performed during first month in 80 cases, after this period in 9 cases. Sixty-five neonates were shown to have a malformation of the urinary tract: reflux (n = 27), megaureter (n = 20), uretero-pelvic junction obstruction (n = 19), renal duplication (n = 7), posterior urethral valves (n = 2), horseshoe kidney (n = 1), ureteric cyst (n = 1). Reflux which is frequent in neonates with urinary tract infection, is the most frequent cause of moderate dilatation of the fetal renal pelvis. Combination of ultrasound and voiding cysto-urethrography in neonates allows a quick, full diagnosis. It helps rationalize the use of prophylactic antibiotic treatment. PMID:9091617

  19. 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.,

  20. 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

  1. 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

  2. The role of prenatal ultrasound assessment in management of fetal cervicofacial tumors.

    PubMed

    Zieliński, Rafał; Respondek-Liberska, Maria

    2016-08-01

    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

  3. 14 Years of Polish Experience in Non-Invasive Prenatal Blood Group Diagnosis

    PubMed Central

    Orzińska, Agnieszka; Guz, Katarzyna; Dębska, Marzena; Uhrynowska, Małgorzata; Celewicz, Zbigniew; Wielgo, Mirosław; Brojer, Ewa

    2015-01-01

    Summary Background Blood cell antigens may cause maternal alloimmunization leading to fetal/newborn disorders. Non-invasive prenatal diagnostics (NIPD) of the blood group permits the determination of feto-maternal incompatibility. Aim To evaluate 14 years of blood group NIPD at the Institute of Hematology and Transfusion Medicine (IHTM) in Warsaw. Methods Plasma DNA from 536 RhD-negative, 24 Rhc-negative, 26 RhE-negative, 43 K-negative, and 42 HPA-1a-negative pregnant women was examined by real-time PCR to detect RHD, RHCE*c, RHCE*E, RHCE*C, KEL*01 and HPA*1A, respectively. We tested for CCR5, SRY or bi-allelic polymorphisms and quantified the total or fetal DNA. Results The results of fetal antigen status prediction by NIPD in all but one case (false-positive result of KEL*01) were correct taking neonate serology as a reference. It was confirmed that all negative results of NIPD contained fetal DNA except for four cases where there was no difference between the parents' polymorphisms. Conclusions A fetal genotype compatible with the mother was determined in 25% of all pregnancies tested at the IHTM for the fetal blood group. These cases were not at risk of disease, so it was possible to avoid invasive procedures. PMID:26733766

  4. 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

  5. Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14).

    PubMed

    Chen, Chih-Ping; Lee, Meng-Ju; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Yu-Ting; Lee, Meng-Shan; Wang, Wayseen

    2013-10-25

    We present prenatal diagnosis of de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14) and molecular cytogenetic characterization of the deletion using uncultured amniocytes. We review the phenotypic abnormalities of previously reported patients with similar proximal interstitial 4p deletions, and we discuss the functions of the genes of RBPJ, CCKAR, STIM2, PCDH7 and ARAP2 that are deleted within this region. PMID:23948085

  6. 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

  7. Prenatal diagnosis of alpha thalassaemia major following cordocentesis--a case report.

    PubMed

    Raman, S; Kuppuvelumani, P; Menaka, H

    1991-03-01

    The relevant investigations and management of a case of alpha-thalassaemia major suspected antenatally is discussed. The value of ultrasonically guided cordocentesis in the definite diagnosis of this condition is emphasised in the management of this pregnancy. We believe that this is the first time such a procedure has been done in this country. PMID:1836033

  8. ACE-I Angioedema: Accurate Clinical Diagnosis May Prevent Epinephrine-Induced Harm

    PubMed Central

    Curtis, R. Mason; Felder, Sarah; Borici-Mazi, Rozita; Ball, Ian

    2016-01-01

    Introduction Upper airway angioedema is a life-threatening emergency department (ED) presentation with increasing incidence. Angiotensin-converting enzyme inhibitor induced angioedema (AAE) is a non-mast cell mediated etiology of angioedema. Accurate diagnosis by clinical examination can optimize patient management and reduce morbidity from inappropriate treatment with epinephrine. The aim of this study is to describe the incidence of angioedema subtypes and the management of AAE. We evaluate the appropriateness of treatments and highlight preventable iatrogenic morbidity. Methods We conducted a retrospective chart review of consecutive angioedema patients presenting to two tertiary care EDs between July 2007 and March 2012. Results Of 1,702 medical records screened, 527 were included. The cause of angioedema was identified in 48.8% (n=257) of cases. The most common identifiable etiology was AAE (33.1%, n=85), with a 60.0% male predominance. The most common AAE management strategies included diphenhydramine (63.5%, n=54), corticosteroids (50.6%, n=43) and ranitidine (31.8%, n=27). Epinephrine was administered in 21.2% (n=18) of AAE patients, five of whom received repeated doses. Four AAE patients required admission (4.7%) and one required endotracheal intubation. Epinephrine induced morbidity in two patients, causing myocardial ischemia or dysrhythmia shortly after administration. Conclusion AAE is the most common identifiable etiology of angioedema and can be accurately diagnosed by physical examination. It is easily confused with anaphylaxis and mismanaged with antihistamines, corticosteroids and epinephrine. There is little physiologic rationale for epinephrine use in AAE and much risk. Improved clinical differentiation of mast cell and non-mast cell mediated angioedema can optimize patient management. PMID:27330660

  9. Attitudes towards prenatal diagnosis and abortion in a multi-ethnic country: a survey among parents of children with thalassaemia major in Malaysia.

    PubMed

    Ngim, Chin Fang; Lai, Nai Ming; Ibrahim, Hishamshah; Ratnasingam, Vanassa

    2013-04-01

    Thalassaemia is a public health problem in multi-ethnic Malaysia which mainly affects the Malays, Kadazan-Dusuns and Chinese. This study, the first in Malaysia, aims to evaluate the acceptability of prenatal diagnosis and abortion among Malaysian parents who have a child or children with thalassaemia major and the socio-demographic factors affecting their decision-making. A pre-structured questionnaire was distributed to parents of children with thalassaemia major. Response rate for completed surveys was 99.1 %. Out of 116 respondents, the majority (83/71.6 %) were agreeable for prenatal diagnosis, but only 33 (28.4 %) agreed to both prenatal diagnosis followed by termination of affected foetuses. Of parents who declined abortion, 77.6 % cited religious restriction as the main reason, and their religious background was a significant factor (p = 0.001), with 73.4 % of Muslim participants against termination compared to 25 % of Christians and 13.3 % of Buddhists. Gender, age, highest education level and number of children affected with thalassaemia were non-significant predictors in decision-making regarding abortion. The acceptance rate for termination of foetuses with thalassaemia major in Malaysia is low especially among the Muslims due to religious non-permissibility. Therefore, scholarly deliberations among the Malaysian Muslim religious authorities that result in a supportive stance in this issue may contribute to a more successful prevention programme. PMID:23296641

  10. Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families.

    PubMed Central

    Deutz-Terlouw, P P; Losekoot, M; Olmer, R; Pieneman, W C; de Vries-v d Weerd, S; Briët, E; Bakker, E

    1995-01-01

    Haemophilia A is an X linked bleeding disorder caused by a heterogeneous spectrum of mutations in the factor VIII gene. It has recently been reported that about 50% of severe haemophilia A cases are the result of an iversion in the factor VIII gene. The inversion results from homologous recombination between the A gene located in intron 22 of the FVIII gene and one of the two distal A genes, thus disrupting the coding sequence of the factor VIII gene. The inversion can be detected by conventional Southern blotting and hybridisation techniques. Here we present an analysis of 177 unrelated Dutch haemophilia A cases for the presence of an inversion. In 57% of the patients with severe disease an inversion was found and also in at least one of the 26 patients with moderately severe disease. The majority of inversions (85%) involved the most distal A gene, while in a minority (15%) the more proximal A gene was involved. We show that direct mutation detection greatly improves the assessment of carrier status and prenatal diagnosis for haemophilia A, especially in families with an isolated patient. The inversion is predominantly of grandpaternal origin. Images PMID:7643361

  11. 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

    may cause psychologic distress if there is a false-positive screening test result. Up to 20% of women with positive results of screening tests may decline to undergo a subsequent amniocentesis. Amniocentesis and CVS are very accurate in diagnosing DS in fetuses and have a very low rate of serious complications for the mother. Amniocentesis is associated with a 1.7% rate of fetal loss when it is performed after 16 weeks' gestation, whereas the rate among controls is 0.7% (for a difference of 1%, 95% confidence interval 0.3% to 1.5%). CVS entails a greater risk of fetal loss than amniocentesis (odds ratio 1.32, 95% confidence interval 1.11 to 1.57). There is little evidence from controlled trials of significant associations between amniocentesis or CVS and neonatal morbidity or malformations; however, samples have been too small to show differences in rare outcomes. Results from some case-control studies suggest that CVS increases the risk of transverse limb deficiency. Costs were not considered because they are beyond the scope of this review. RECOMMENDATIONS: There is fair evidence to offer triple-marker screening through a comprehensive program to pregnant women under 35 years of age (grade B recommendation). Women given detailed information about serum-marker screening show more satisfaction with the screening than those not given this information. There is fair evidence to offer amniocentesis or CVS to pregnant women 35 years of age and older and to women with a history of a fetus with DS or of a chromosome 21 anomaly (grade B recommendation). Information on the limitations and advantages of each procedure should be offered. Triple-marker screening may be offered as an alternative to CVS or amniocentesis to pregnant women over 35. VALIDATION: Recommendations concerning prenatal diagnosis are similar to those of the US Preventive Services Task Force, the Society of Obstetricians and Gynaecologists of Canada, the Canadian College of Medical Geneticists and the

  12. Prenatal diagnosis of congenital high airway obstruction syndrome (CHAOS). Five case report.

    PubMed

    Aslan, Halil; Ekiz, Ali; Acar, Deniz Kanber; Aydiner, Burchan; Kaya, Basak; Sezer, Salim

    2015-03-01

    Congenital high airway obstruction syndrome (CHAOS) is an extremely rare life-threatening condition. Laryngeal atresia appears to be the most frequent cause. Generally the diagnosis is made with severely enlarged and highly echogenic lungs and additional ultrasound findings. The prognosis of the affected infants is often poor. Five cases are reported here that were diagnosed in a tertiary center between 2008 and 2014. PMID:25745665

  13. Prenatal diagnosis of body stalk complex: A rare entity and review of literature.

    PubMed

    Kocherla, Keerthi; Kumari, Vasantha; Kocherla, Prasada Rao

    2015-01-01

    Body stalk anomalies are a group of massively disfiguring abdominal wall defects in which the abdominal organs lie outside of the abdominal cavity in a sac of amnioperitoneum with absence of or very small umbilical cord. Various hypotheses proposed to explain the pathogenesis of limb body wall complex include early amnion disruptions, embryonic dysplasia, and vascular disruption in early pregnancy. Body stalk anomaly is an accepted fatal anomaly and, hence, its early diagnosis aids in proper management of the patient. PMID:25709170

  14. Fetal brain tumors: Prenatal diagnosis by ultrasound and magnetic resonance imaging

    PubMed Central

    Milani, Hérbene José; Araujo Júnior, Edward; Cavalheiro, Sérgio; Oliveira, Patrícia Soares; Hisaba, Wagner Jou; Barreto, Enoch Quinderé Sá; Barbosa, Maurício Mendes; Nardozza, Luciano Marcondes; Moron, Antonio Fernandes

    2015-01-01

    Congenital central nervous system tumors diagnosed during pregnancy are rare, and often have a poor prognosis. The most frequent type is the teratoma. Use of ultrasound and magnetic resonance image allows the suspicion of brain tumors during pregnancy. However, the definitive diagnosis is only confirmed after birth by histology. The purpose of this mini-review article is to describe the general clinical aspects of intracranial tumors and describe the main fetal brain tumors. PMID:25628801

  15. Fetal brain tumors: Prenatal diagnosis by ultrasound and magnetic resonance imaging.

    PubMed

    Milani, Hérbene José; Araujo Júnior, Edward; Cavalheiro, Sérgio; Oliveira, Patrícia Soares; Hisaba, Wagner Jou; Barreto, Enoch Quinderé Sá; Barbosa, Maurício Mendes; Nardozza, Luciano Marcondes; Moron, Antonio Fernandes

    2015-01-28

    Congenital central nervous system tumors diagnosed during pregnancy are rare, and often have a poor prognosis. The most frequent type is the teratoma. Use of ultrasound and magnetic resonance image allows the suspicion of brain tumors during pregnancy. However, the definitive diagnosis is only confirmed after birth by histology. The purpose of this mini-review article is to describe the general clinical aspects of intracranial tumors and describe the main fetal brain tumors. PMID:25628801

  16. Prenatal diagnosis of single gene disorders using amniotic fluid as the starting material for PCR.

    PubMed

    Huang, Huan; Li, Shuo; Lu, Shuolian; Ge, Hongshan; Sun, Lizhou

    2016-01-01

    A rapid and inexpensive method for fetal genetic diagnosis using amniotic fluid (AF) as the starting material was demonstrated in this study. Raw AF was added directly to polymerase chain reaction (PCR) mixtures with HpH buffer (a high pH buffer), without any pre-treatment. Amplified products were detected by gel electrophoresis and then subjected to Sanger sequencing. The AF from four fetuses, each expressing a single gene disorder (achondroplasia, hypochondroplasia, thanatophoric dysplasia, or X-linked hypohidrotic ectodermal dysplasia), were analyzed. DNA fragments of different lengths were efficiently amplified from 8 μl of AF, allowing each of these single gene disorders to be successfully diagnosed. Although the amplification efficiency of the AF-PCR method is comparable to that of the Chelex method, the amount of the AF sample required was considerably lower than that required for the Chelex method (10 ml). This proposed method of diagnosis is more efficient, simpler, and less expensive, and reduces the chance of cross-contamination relative to the Chelex method, which requires purified DNA or other pre-treatment processes. Our method offers a promising tool that can be used for the diagnosis of various gene disorders in fetuses. PMID:26587643

  17. MALDI-TOF MS in Prenatal Genomics

    PubMed Central

    Zhong, Xiao Yan; Holzgreve, Wolfgang

    2009-01-01

    Summary Prenatal diagnosis aims either to provide the reassurance to the couples at risk of having an affected child by timely appropriate therapy or to give the parents a chance to decide the fate of the unborn babies with health problems. Invasive prenatal diagnosis (IPD) is accurate, however, carrying a risk of miscarriage. Non-invasive prenatal diagnosis (NIPD) has been developed based on the existing of fetal genetic materials in maternal circulation; however, a minority fetal DNA in majority maternal background DNA hinders the detections of fetal traits. Different protocols and assays, such as homogenous MassEXTEND (hME), single allele base extension reaction (SABER), precise measuring copy number variation of each allele, and quantitative methylation and expression analysis using the high-throughput sensitive matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS), allow NIPD for single gene disorders, fetal blood group genotyping and fetal aneuploidies as well as the development of fetal gender-independent biomarkers in maternal circulation for management of pathological pregnancies. In this review, we summarise the use of MALDI-TOF MS in prenatal genomics. PMID:21049077

  18. Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus

    PubMed Central

    Abumansour, Iman S.; Al Sulmi, Eman; Chodirker, Bernard N.; Hunt, Jennifer C.

    2015-01-01

    Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker–Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome. Aim In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method Single nucleotide polymorphism (SNP) array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families. PMID:26495167

  19. 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

  20. Prenatal diagnosis of a mosaic 45,X/46,X,r(X)46,XX with a small ring of the X chromosome.

    PubMed

    Le Bris, M J; Le Guern, H; Plouhinec, C; Audrezet, M P; Parent, P; Chabaud, J J; Morel, F; De Braekeleer, M; Douet-Guilbert, N

    2006-01-01

    We report the prenatal diagnosis of a mosaic 45,X/46,X,r(X)/46,XX foetus after amniocentesis for maternal second-trimester serum screening. Biparental contribution for the X chromosomes suggest the postzygotic formation of the X ring. The ring is tiny but contains the X-inactive-specific transcript gene (XIST). However, we could not determine whether XIST was correctly expressed or not. The foetal ultrasound examination at 21, 25, 31 weeks' gestation showed no physical abnormalities, prompting the parents to continue the pregnancy. Physical examination at one year-old revealed normal growth and psychomotor development. Only three cases exhibiting an identical 45,X/46,X,r(X)/46,XX mosaicism, but detected postnatally, are reported in the literature. This is the first reported case ofa mosaic 45,X/46,X,r(X)/46,XX identified in the prenatal period. PMID:17375529

  1. 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

  2. Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment.

    PubMed

    Xiong, WenPing; Wang, DaYong; Gao, Yuan; Gao, Ya; Wang, HongYang; Guan, Jing; Lan, Lan; Yan, JunHao; Zong, Liang; Yuan, Yuan; Dong, Wei; Huang, SeXin; Wu, KeLiang; Wang, YaoShen; Wang, ZhiLi; Peng, HongMei; Lu, YanPing; Xie, LinYi; Zhao, Cui; Wang, Li; Zhang, QiuJing; Gao, Yun; Li, Na; Yang, Ju; Yin, ZiFang; Han, Bing; Wang, Wei; Chen, Zi-Jiang; Wang, QiuJu

    2015-09-01

    A couple with a proband child of GJB2 (encoding the gap junction protein connexin 26)-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Our study aimed to develop a customized preconception-to-neonate care trajectory to fulfill this clinical demand by integrating preimplantation genetic diagnosis (PGD), noninvasive prenatal testing (NIPT), and noninvasive prenatal diagnosis (NIPD) into the strategy. Auditory and genetic diagnosis of the proband child was carried out to identify the disease causative mutations. The couple then received in-vitro-fertilization treatment, and eight embryos were obtained for day 5 biopsy. PGD was performed by short-tandem-repeat linkage analysis and Sanger sequencing of GJB2 gene. Transfer of a GJB2c.235delC heterozygous embryo resulted in a singleton pregnancy. At the 13th week of gestation, genomic DNA (gDNA) from the trio family and cell-free DNA (cfDNA) from maternal plasma were obtained for assessment of fetal chromosomal aneuploidy and GJB2 mutations. NIPT and NIPD showed the absence of chromosomal aneuploidy and GJB2-associated disease in the fetus, which was later confirmed by invasive procedures and postnatal genetic/auditory diagnosis. This strategy successfully prevented the transmission of hearing impairment in the newborn, thus providing a valuable experience in reproductive management of similar cases and potentially other monogenic disorders. PMID:26432548

  3. 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.

  4. Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography.

    PubMed

    Blitz, Matthew J; Rochelson, Burton

    2016-03-01

    Introduction Ectrodactyly, also known as split hand/foot malformation, is a rare developmental abnormality of the limbs that consists of absent central digits, a deep median cleft, and fusion of the remaining lateral digits, ultimately producing clawlike extremities. This case represents one of the earliest reported diagnoses of this anomaly to utilize three-dimensional (3D) ultrasonography. Case A nulliparous woman presented at 13 weeks of gestation for first-trimester aneuploidy screening. On two-dimensional (2D) imaging, she was noted to have a fetus with a shortened right upper limb and a malformed right hand with no clearly visualized digits. The anomaly was then further evaluated with both transabdominal and transvaginal 2D and 3D ultrasonography with postprocessing visualization, revealing absent central digits. Neither the patient nor her husband reported any personal or family history of skeletal or other structural malformations. Discussion Fetal limb abnormalities are being encountered at increasingly earlier gestational ages due to improvements in image quality and expanded use of ultrasound in the first trimester. Early identification of fetal limb malformations without a definitive diagnosis or a clear pattern of inheritance can present a challenging clinical scenario. Patients may opt for earlier termination of pregnancy rather than wait for additional information to guide decision-making. PMID:26989570

  5. Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography

    PubMed Central

    Blitz, Matthew J.; Rochelson, Burton

    2016-01-01

    Introduction Ectrodactyly, also known as split hand/foot malformation, is a rare developmental abnormality of the limbs that consists of absent central digits, a deep median cleft, and fusion of the remaining lateral digits, ultimately producing clawlike extremities. This case represents one of the earliest reported diagnoses of this anomaly to utilize three-dimensional (3D) ultrasonography. Case A nulliparous woman presented at 13 weeks of gestation for first-trimester aneuploidy screening. On two-dimensional (2D) imaging, she was noted to have a fetus with a shortened right upper limb and a malformed right hand with no clearly visualized digits. The anomaly was then further evaluated with both transabdominal and transvaginal 2D and 3D ultrasonography with postprocessing visualization, revealing absent central digits. Neither the patient nor her husband reported any personal or family history of skeletal or other structural malformations. Discussion Fetal limb abnormalities are being encountered at increasingly earlier gestational ages due to improvements in image quality and expanded use of ultrasound in the first trimester. Early identification of fetal limb malformations without a definitive diagnosis or a clear pattern of inheritance can present a challenging clinical scenario. Patients may opt for earlier termination of pregnancy rather than wait for additional information to guide decision-making. PMID:26989570

  6. 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. PMID:25385298

  7. 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

  8. Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations

    PubMed Central

    2010-01-01

    Background The purpose of the study was the application and evaluation of array Comparative Genomic Hybridization (array CGH) in selected cases during prenatal diagnosis. Array CGH was applied in 25 fetal samples out of which 15 had normal karyotypes and abnormal ultrasound findings and 10 had apparently balanced structural aberrations with or without abnormal ultrasound findings. DNA was extracted from peripheral blood, chorionic villi samples (CV) and amniotic fluid. Bacterial Artificial Chromosome (BAC) array CGH (Cytochip, BlueGnome Ltd.) of 1 Mb was applied and results were confirmed with either Fluorescence In Situ Hybridization (FISH), Multiplex Ligation-dependant Probe Amplification (MLPA) or Real-Time PCR. Results Three out of 25 samples (12%), referred for prenatal array CGH, were found to carry copy number alterations. The number of cases with clinically significant alterations was 2/25 (8%), while one (4%) was of uncertain clinical significance. Two benign Copy Number Variations (CNVs) were also found in 1/25 cases (4%). Conclusions The outcome of this study indicates the ability of array CGH to identify chromosomal abnormalities which cannot be detected during routine prenatal cytogenetic analysis, therefore increasing the overall detection rate. PMID:21110858

  9. Development and Validation of a Highly Accurate Quantitative Real-Time PCR Assay for Diagnosis of Bacterial Vaginosis.

    PubMed

    Hilbert, David W; Smith, William L; Chadwick, Sean G; Toner, Geoffrey; Mordechai, Eli; Adelson, Martin E; Aguin, Tina J; Sobel, Jack D; Gygax, Scott E

    2016-04-01

    Bacterial vaginosis (BV) is the most common gynecological infection in the United States. Diagnosis based on Amsel's criteria can be challenging and can be aided by laboratory-based testing. A standard method for diagnosis in research studies is enumeration of bacterial morphotypes of a Gram-stained vaginal smear (i.e., Nugent scoring). However, this technique is subjective, requires specialized training, and is not widely available. Therefore, a highly accurate molecular assay for the diagnosis of BV would be of great utility. We analyzed 385 vaginal specimens collected prospectively from subjects who were evaluated for BV by clinical signs and Nugent scoring. We analyzed quantitative real-time PCR (qPCR) assays on DNA extracted from these specimens to quantify nine organisms associated with vaginal health or disease:Gardnerella vaginalis,Atopobium vaginae, BV-associated bacteria 2 (BVAB2, an uncultured member of the orderClostridiales),Megasphaeraphylotype 1 or 2,Lactobacillus iners,Lactobacillus crispatus,Lactobacillus gasseri, andLactobacillus jensenii We generated a logistic regression model that identifiedG. vaginalis,A. vaginae, andMegasphaeraphylotypes 1 and 2 as the organisms for which quantification provided the most accurate diagnosis of symptomatic BV, as defined by Amsel's criteria and Nugent scoring, with 92% sensitivity, 95% specificity, 94% positive predictive value, and 94% negative predictive value. The inclusion ofLactobacillusspp. did not contribute sufficiently to the quantitative model for symptomatic BV detection. This molecular assay is a highly accurate laboratory tool to assist in the diagnosis of symptomatic BV. PMID:26818677

  10. Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single Center

    PubMed Central

    Meng, Jinlai; Matarese, Chelsea; Crivello, Julianna; Wilcox, Katherine; Wang, Dongmei; DiAdamo, Autumn; Xu, Fang; Li, Peining

    2015-01-01

    Background Because the future application of cell-free fetal DNA screening is expected to dramatically improve the diagnostic yield and reduce unnecessary invasive procedures, it is time to summarize the indications of invasive prenatal diagnosis. This retrospective study was performed to evaluate the changes and efficacies of indications of invasive procedures for detecting cytogenomic abnormalities from 2000 to 2012. Material/Methods From our regional obstetric unit, 7818 invasive procedures were referred by indications of advance maternal age (AMA), abnormal ultrasound findings (aUS), abnormal maternal serum screening (aMSS), and family history (FH). Chromosome, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH) analyses were performed on chorionic villus sampling (CVS) and amniotic fluid (AF) specimens at the Yale Cytogenetics Laboratory. The abnormal findings from single or combined indications were compared to evaluate the diagnostic yield. Results The annual caseload declined by 57.2% but the diagnostic yield increased from 7.2% to 13.4%. Chromosomal and genomic abnormalities were detected in 752 cases (9.6%, 752/7818) and 12 cases (4%, 12/303), respectively. Significantly decreased AMA referrals and increased aUS and aMSS referrals were noted. The top 3 indications by diagnostic yield were AMA/aUS (51.4% for CVS, 24.2% for AF), aUS (34.7% for CVS, 14.5% for AF), and AMA/aMSS (17.8% for CVS, 9.9% for AF). Conclusions Over a period of 13 years, the indication of aMSS and aUS were increasing while AMA was decreasing for prenatal diagnosis of cytogenomic abnormalities, and there was a continuous trend of reduced invasive procedures. Prenatal evaluation using AMA/aUS was the most effective in detecting chromosomal abnormalities, but better indications for genomic abnormalities are needed. PMID:26143093

  11. Use of dystrophin genomic and cDNA probes for solving difficulties in carrier detection and prenatal diagnosis of Duchenne muscular dystrophy.

    PubMed

    Shomrat, R; Driks, N; Legum, C; Shiloh, Y

    1992-02-01

    Duchenne muscular dystrophy (DMD) results from mutations in the X-linked gene coding for the muscular protein dystrophin. The isolation of genomic and cDNA probes for this gene has greatly facilitated the detection of DMD carriers, which previously relied mainly on measurements of serum creatine kinase (CK), and has enabled prenatal diagnosis of this disease. However, the relatively large size of the gene and the high frequency of recombination and mutation events within the dystrophin locus continue to pose difficulties in the genetic counselling and prenatal diagnosis of DMD, and render the conclusions of molecular analysis less clear cut. This communication presents examples of two such difficulties: the distinction between sporadic and inherited cases in families with a single patient and normal CK levels in all females, and the distinction between mutant and normal dystrophin alleles in families in which the patients have died. The combined use of genomic and cDNA probes allows one to make these distinctions. An additional complicating factor, gonadal mosaicism, is demonstrated. PMID:1536162

  12. 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)

  13. How accurate is the diagnosis of exercise induced asthma among Vancouver schoolchildren?

    PubMed Central

    Seear, M; Wensley, D; West, N

    2005-01-01

    Background: Limited access to exercise testing facilities means that the diagnosis of exercise induced asthma (EIA) is mainly based on self-reported respiratory symptoms. This is open to error since the correlation between exercise related symptoms and subsequent exercise testing has been shown to be poor. Aim: To study the accuracy of clinically diagnosed EIA among Vancouver schoolchildren. Methods: Fifty two children referred for investigation of poorly controlled EIA were studied. Following a careful history and physical examination, children performed pulmonary function tests before, then 5 and 15 minutes after a standardised treadmill exercise test. Based on overall assessment, a diagnostic explanation for each child's respiratory complaints was provided as far as possible. Results: Only eight children (15.4%) fulfilled diagnostic criteria for EIA (fall in FEV1 ⩾10%). Of the remainder: 12 (23.1%) were unfit, 14 (26.9%) had vocal cord dysfunction/sigh dyspnoea, 7 (13.5%) had a habit cough, and 11 (21.1%) had no abnormalities on clinical or laboratory testing, so were given no diagnosis. Initial reported symptoms of wheeze or cough often changed significantly following a careful history, particularly among the eight elite athletes. The final complaint was sometimes not respiratory, and, in a few cases, was not even associated with exercise. Conclusions: The clinical diagnosis of EIA is inaccurate among Vancouver schoolchildren, principally due to the unreliability of their initial exercise related complaints. Symptom exaggeration, familiarity with medical jargon, and psychogenic complaints are all common. A careful history is essential in this population before basing any diagnosis on self-reported respiratory symptoms. PMID:15855180

  14. Accurate diagnosis of thyroid follicular lesions from nuclear morphology using supervised learning

    PubMed Central

    Ozolek, John A.; Tosun, Akif Burak; Wang, Wei; Chen, Cheng; Kolouri, Soheil; Basu, Saurav; Huang, Hu; Rohde, Gustavo K.

    2014-01-01

    Follicular lesions of the thyroid remain significant diagnostic challenges in surgical pathology and cytology. The diagnosis often requires considerable resources and ancillary tests including immunohistochemistry, molecular studies, and expert consultation. Visual analyses of nuclear morphological features, generally speaking, have not been helpful in distinguishing this group of lesions. Here we describe a method for distinguishing between follicular lesions of the thyroid based on nuclear morphology. The method utilizes an optimal transport-based linear embedding for segmented nuclei, together with an adaptation of existing classification methods. We show the method outputs assignments (classification results) which are near perfectly correlated with the clinical diagnosis of several lesion types' lesions utilizing a database of 94 patients in total. Experimental comparisons also show the new method can significantly outperform standard numerical feature-type methods in terms of agreement with the clinical diagnosis gold standard. In addition, the new method could potentially be used to derive insights into biologically meaningful nuclear morphology differences in these lesions. Our methods could be incorporated into a tool for pathologists to aid in distinguishing between follicular lesions of the thyroid. In addition, these results could potentially provide nuclear morphological correlates of biological behavior and reduce health care costs by decreasing histotechnician and pathologist time and obviating the need for ancillary testing. PMID:24835183

  15. Application of a cell microarray chip system for accurate, highly sensitive, and rapid diagnosis for malaria in Uganda

    PubMed Central

    Yatsushiro, Shouki; Yamamoto, Takeki; Yamamura, Shohei; Abe, Kaori; Obana, Eriko; Nogami, Takahiro; Hayashi, Takuya; Sesei, Takashi; Oka, Hiroaki; Okello-Onen, Joseph; Odongo-Aginya, Emmanuel I.; Alai, Mary Auma; Olia, Alex; Anywar, Dennis; Sakurai, Miki; Palacpac, Nirianne MQ; Mita, Toshihiro; Horii, Toshihiro; Baba, Yoshinobu; Kataoka, Masatoshi

    2016-01-01

    Accurate, sensitive, rapid, and easy operative diagnosis is necessary to prevent the spread of malaria. A cell microarray chip system including a push column for the recovery of erythrocytes and a fluorescence detector was employed for malaria diagnosis in Uganda. The chip with 20,944 microchambers (105 μm width and 50 μm depth) was made of polystyrene. For the analysis, 6 μl of whole blood was employed, and leukocytes were practically removed by filtration through SiO2-nano-fibers in a column. Regular formation of an erythrocyte monolayer in each microchamber was observed following dispersion of an erythrocyte suspension in a nuclear staining dye, SYTO 21, onto the chip surface and washing. About 500,000 erythrocytes were analyzed in a total of 4675 microchambers, and malaria parasite-infected erythrocytes could be detected in 5 min by using the fluorescence detector. The percentage of infected erythrocytes in each of 41 patients was determined. Accurate and quantitative detection of the parasites could be performed. A good correlation between examinations via optical microscopy and by our chip system was demonstrated over the parasitemia range of 0.0039–2.3438% by linear regression analysis (R2 = 0.9945). Thus, we showed the potential of this chip system for the diagnosis of malaria. PMID:27445125

  16. Application of a cell microarray chip system for accurate, highly sensitive, and rapid diagnosis for malaria in Uganda.

    PubMed

    Yatsushiro, Shouki; Yamamoto, Takeki; Yamamura, Shohei; Abe, Kaori; Obana, Eriko; Nogami, Takahiro; Hayashi, Takuya; Sesei, Takashi; Oka, Hiroaki; Okello-Onen, Joseph; Odongo-Aginya, Emmanuel I; Alai, Mary Auma; Olia, Alex; Anywar, Dennis; Sakurai, Miki; Palacpac, Nirianne Mq; Mita, Toshihiro; Horii, Toshihiro; Baba, Yoshinobu; Kataoka, Masatoshi

    2016-01-01

    Accurate, sensitive, rapid, and easy operative diagnosis is necessary to prevent the spread of malaria. A cell microarray chip system including a push column for the recovery of erythrocytes and a fluorescence detector was employed for malaria diagnosis in Uganda. The chip with 20,944 microchambers (105 μm width and 50 μm depth) was made of polystyrene. For the analysis, 6 μl of whole blood was employed, and leukocytes were practically removed by filtration through SiO2-nano-fibers in a column. Regular formation of an erythrocyte monolayer in each microchamber was observed following dispersion of an erythrocyte suspension in a nuclear staining dye, SYTO 21, onto the chip surface and washing. About 500,000 erythrocytes were analyzed in a total of 4675 microchambers, and malaria parasite-infected erythrocytes could be detected in 5 min by using the fluorescence detector. The percentage of infected erythrocytes in each of 41 patients was determined. Accurate and quantitative detection of the parasites could be performed. A good correlation between examinations via optical microscopy and by our chip system was demonstrated over the parasitemia range of 0.0039-2.3438% by linear regression analysis (R(2) = 0.9945). Thus, we showed the potential of this chip system for the diagnosis of malaria. PMID:27445125

  17. Prenatal Care

    MedlinePlus

    Prenatal care is the health care you get while you are pregnant. It includes your checkups and prenatal testing. Prenatal care can help keep you and your baby healthy. It lets your health care provider spot health problems early. Early treatment ...

  18. Prenatal Diagnosis of Atrial Restriction in Hypoplastic Left Heart Syndrome is Associated with Decreased 2-Year Survival

    PubMed Central

    Lowenthal, Alexander; Kipps, Alaina K.; Brook, Michael M.; Meadows, Jeffery; Azakie, Anthony; Moon-Grady, Anita J.

    2012-01-01

    Objective To compare the course of HLHS patients diagnosed prenatally with any degree of atrial restriction with those without evidence of atrial restriction. Design Retrospective, cohort. Methods Prenatally diagnosed HLHS patients from 8/1999–1/2009 were categorized as non-restrictive versus restrictive, defined by left atrial hypertension on pulmonary venous Doppler and/or an interatrial septum. Results Of 73 total fetal patients identified, 49 were liveborn. Survival at 2 years was 29/35 (83% CI: 59.5%–88.9%) for the non-restrictive group and 6/14 (43% CI:17.7%–66.0%) for the restrictive group (p<0.0001). Of those who underwent stage 1 palliation (35 with nonrestrictive and 10 with restrictive atrial septa) both groups had a similar incidence of preoperative acidosis and need for ventilation and inotropic support. Postoperatively, there was no difference between groups in ventilator days, length of stay, or survival to discharge. There was decreased survival at 2 years in the restrictive group, 60% (CI: 26.2%–87.8%) versus 83% (CI: 66.4%–93.4%) in the non-restrictive group. Furthermore, a disproportionate number of interstage deaths was evident in the restrictive group. Conclusion Prenatal presence of any degree of atrial septal restriction in the setting of HLHS confers a significant survival disadvantage, with increases in both early and late mortality. PMID:22511219

  19. Fiber diffraction of skin and nails provides an accurate diagnosis of malignancies

    SciTech Connect

    James, Veronica J.

    2009-10-21

    An early diagnosis of malignancies correlates directly with a better prognosis. Yet for many malignancies there are no readily available, noninvasive, cost-effective diagnostic tests with patients often presenting too late for effective treatment. This article describes for the first time the use of fiber diffraction patterns of skin or fingernails, using X-ray sources, as a biometric diagnostic method for detecting neoplastic disorders including but not limited to melanoma, breast, colon and prostate cancers. With suitable further development, an early low-cost, totally noninvasive yet reliable diagnostic test could be conducted on a regular basis in local radiology facilities, as a confirmatory test for other diagnostic procedures or as a mass screening test using suitable small angle X-ray beam-lines at synchrotrons.

  20. Accurate diagnosis of renal transplant rejection by indium-111 platelet imaging despite postoperative cyclosporin therapy

    SciTech Connect

    Collier, B.D.; Adams, M.B.; Kauffman, H.M.; Trembath, L.; Hoffmann, R.G.; Tisdale, P.L.; Rao, S.A.; Hellman, R.S.; Isitman, A.T.

    1988-08-01

    Previous reports indicate that In-111 platelet scintigraphy (IPS) is a reliable test for the early diagnosis of acute post-operative renal transplant rejection (TR). However, the recent introduction of cyclosporin for post-transplantation immunosuppression requires that the diagnostic efficacy of IPS once again be established. Therefore, a prospective IPS study of 73 post-operative renal transplant recipients was conducted. Fourty-nine patients received cyclosporin and 24 patients did not receive this drug. Between these two patient groups, there were no significant differences in the diagnostic sensitivities (0.86 vs 0.80) and specificities (0.93 vs 0.84) with which TR was identified. We conclude that during the first two weeks following renal transplantation the cyclosporin treatment regimen used at our institution does not limit the reliability of IPS as a test for TR.

  1. Organization of the human CD40L gene: Implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis

    SciTech Connect

    Villa, A.; Macchi, P.P.; Strina, D.; Frattini, A.; Lucchini, F.; Patrosso, C.M.; Vezzoni, P.; Notarangelo, L.D.; Giliani, S.; Mantuano, E.

    1994-03-15

    Recently, CD40L has been identified as the gene responsible for X chromosome-linked hyper-IgM syndrome (HIGM1). CD40L on activated T cells from HIGM1 patients fails to bind B-cell CD40 molecules, and subsequent analysis of CD40L transcripts by reverse transcription PCR demonstrated coding region mutations in these patients. This approach, however, is of limited use for prenatal diagnosis of HIGM1 in the early-gestation fetus. In this report, the authors have defined the genomic structure of the CD40L gene, which is composed of five exons and four intervening introns. With this information, the authors have defined at the genomic level the CD40L coding region. These different deletions arose from three distinct mechanisms, including (i) a splice donor mutation with exon skipping, (ii) a splice acceptor mutation with utilization of a cryptic splice site, and (iii) a deletion/insertion event with the creation of a new splice acceptor site. In addition, they have performed prenatal evaluation of an 11-week-old fetus at risk for HIGM1. CD40L genomic clones provide a starting point for further studies of the genetic elements that control CD40L expression. Knowledge of the CD40L gene structure will prove useful for the identification of additional mutations in HIGM1 and for performing genetic counseling about this disease. 54 refs., 4 figs., 1 tab.

  2. 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

  3. Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.

    PubMed

    Sifakis, Stavros; Manolakos, Emmanouil; Vetro, Annalisa; Kappou, Dimitra; Peitsidis, Panagiotis; Kontodiou, Maria; Garas, Antonios; Vrachnis, Nikolaos; Konstandinidou, Anastasia; Zuffardi, Orsetta; Orru, Sandro; Papoulidis, Ioannis

    2012-01-01

    Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations. The majority of the reports of prenatally diagnosed WHS cases are associated with large 4p deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH) has increased the detection rate of submicroscopic chromosomal aberrations associated with WHS phenotype. We provide a report of two fetuses with WHS presenting with intrauterine growth restriction as an isolated finding or combined with oligohydramnios and abnormal Doppler waveform in umbilical artery and uterine arteries. Standard karyotyping demonstrated a deletion on chromosome 4 in both cases [del(4)(p15.33) and del(4)(p15.31), respectively] and further application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect. A detailed review of the currently available literature on the prenatal diagnostic approach of WHS in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided. PMID:22373435

  4. Prognostic factors in pediatric high-grade astrocytoma: the importance of accurate pathologic diagnosis.

    PubMed

    Hales, Russell K; Shokek, Ori; Burger, Peter C; Paynter, Nina P; Chaichana, Kaisorn L; Quiñones-Hinojosa, Alfredo; Jallo, George I; Cohen, Kenneth J; Song, Danny Y; Carson, Benjamin S; Wharam, Moody D

    2010-08-01

    To characterize a population of pediatric high-grade astrocytoma (HGA) patients by confirming the proportion with a correct diagnosis, and determine prognostic factors for survival in a subset diagnosed with uniform pathologic criteria. Sixty-three children diagnosed with HGA were treated at the Johns Hopkins Hospital between 1977 and 2004. A single neuropathologist (P.C.B.) reviewed all available histologic samples (n = 48). Log-rank analysis was used to compare survival by patient, tumor, and treatment factors. Median follow-up was 16 months for all patients and 155 months (minimum 54 months) for surviving patients. Median survival for all patients (n = 63) was 14 months with 10 long-term survivors (survival >48 months). At initial diagnosis, 27 patients were grade III (43%) and 36 grade IV (57%). Forty-eight patients had pathology slides available for review, including seven of ten long-term surviving patients. Four patients had non-HGA pathology, all of whom were long term survivors. The remaining 44 patients with confirmed HGG had a median survival of 14 months and prognostic analysis was confined to these patients. On multivariate analysis, five factors were associated with inferior survival: performance status (Lansky) <80% (13 vs. 15 months), bilaterality (13 vs. 19 months), parietal lobe location (13 vs. 16 months), resection less than gross total (13 vs. 22 months), and radiotherapy dose <50 Gy (9 vs. 16 months). Among patients with more than one of the five adverse factors (n = 27), median survival and proportion of long-term survivors were 12.9 months and 0%, compared with 41.4 months and 18% for patients with 0-1 adverse factors (n = 17). In an historical cohort of children with HGA, the potential for long term survival was confined to the subset with less than two of the following adverse prognostic factors: low performance status, bilaterality, parietal lobe site, less than gross total resection, and radiotherapy dose <50 Gy. Pathologic misdiagnosis

  5. Accurate Diagnosis of Sigmoid Colon Endometriosis by Immunohistochemistry and Transmission Electron Microscopy - A Case Report.

    PubMed

    Constantin, V; Carăp, A; Bobic, S; Pâun, I; Brâtilâ, E; Socea, B; Moroşanu, A-M; Mirancea, N

    2015-01-01

    Endometriosis is described as the presence of functioning endometrial tissue at sites outside the uterus. Up to 15% ofwomen in their reproductive period are affected by this condition. Endometriosis is mostly foundon the uterosacral ligaments, inside the rectovaginalseptum or vagina, in the rectosigmoid area, ovarianfossa, pelvic peritoneum, ureters, and bladder, causinga distortion of the pelvic anatomy. Colonic involvement is rare but is usually found at the level of the rectum or the sigmoid colon. Acute presentation with intestinal obstruction or perforation is rare. While malignant transformation of endometrial lesions is rare, findings of dysplasia on pathology sections can give rise to questions of management. Immunohistochemistry and electron microscopy can help decision making. We present the case of a 38 year old woman with intestinal obstruction caused by sigmoid colon endometriosis with moderate dysplasia in which transmission electron microscopy was used for postoperative diagnosis. Detailed analysis of these cases, while logistically difficult, can prove useful in understanding the etiology and pathophysiology of the disease. PMID:26531796

  6. Iofetamine I 123 single photon emission computed tomography is accurate in the diagnosis of Alzheimer's disease

    SciTech Connect

    Johnson, K.A.; Holman, B.L.; Rosen, T.J.; Nagel, J.S.; English, R.J.; Growdon, J.H. )

    1990-04-01

    To determine the diagnostic accuracy of iofetamine hydrochloride I 123 (IMP) with single photon emission computed tomography in Alzheimer's disease, we studied 58 patients with AD and 15 age-matched healthy control subjects. We used a qualitative method to assess regional IMP uptake in the entire brain and to rate image data sets as normal or abnormal without knowledge of subjects'clinical classification. The sensitivity and specificity of IMP with single photon emission computed tomography in AD were 88% and 87%, respectively. In 15 patients with mild cognitive deficits (Blessed Dementia Scale score, less than or equal to 10), sensitivity was 80%. With the use of a semiquantitative measure of regional cortical IMP uptake, the parietal lobes were the most functionally impaired in AD and the most strongly associated with the patients' Blessed Dementia Scale scores. These results indicated that IMP with single photon emission computed tomography may be a useful adjunct in the clinical diagnosis of AD in early, mild disease.

  7. Prenatal Detection of Inherited Disorders

    PubMed Central

    Dwivedi, Chandradhar

    1981-01-01

    The following is a review of current concepts of prenatal detection. Transabdominal amniocentesis is recognized to be an integral adjunct to prenatal care. The analysis of cultured amniotic fluid cells collected at about 16 weeks of gestation provides in utero diagnosis of nearly all chromosomal aberration syndromes, several metabolic disorders which are due to a specific enzymic deficiency due to single gene disorders, and some multifactorial disorders, such as prenatal diagnosis of neural tube defects by estimation of alphafeto protein in amniotic fluid. Various aspects of amniocentesis are discussed. PMID:7205985

  8. TROP-2 immunohistochemistry: a highly accurate method in the differential diagnosis of papillary thyroid carcinoma.

    PubMed

    Bychkov, Andrey; Sampatanukul, Pichet; Shuangshoti, Shanop; Keelawat, Somboon

    2016-08-01

    We aimed to evaluate the diagnostic utility of the novel immunohistochemical marker TROP-2 on thyroid specimens (226 tumours and 207 controls). Whole slide immunohistochemistry was performed and scored by automated digital image analysis. Non-neoplastic thyroid, follicular adenomas, follicular carcinomas, and medullary carcinomas were negative for TROP-2 immunostaining. The majority of papillary thyroid carcinoma (PTC) specimens (94/114, 82.5%) were positive for TROP-2; however, the pattern of staining differed significantly between the histopathological variants. All papillary microcarcinomas (mPTC), PTC classic variant (PTC cv), and tall cell variant (PTC tcv) were TROP-2 positive, with mainly diffuse staining. In contrast, less than half of the PTC follicular variant specimens were positive for TROP-2, with only focal immunoreactivity. TROP-2 could identify PTC cv with 98.1% sensitivity and 97.5% specificity. ROC curve analysis found that the presence of >10% of TROP-2 positive cells in a tumour supported a diagnosis of PTC. The study of intratumoural heterogeneity showed that low-volume cytological samples of PTC cv could be adequately assessed by TROP-2 immunostaining. The TROP-2 H-score (intensity multiplied by proportion) was significantly associated with PTC variant and capsular invasion in encapsulated PTC follicular variant (p<0.001). None of the baseline (age, gender) and clinical (tumour size, nodal disease, stage) parameters were correlated with TROP-2 expression. In conclusion, TROP-2 membranous staining is a very sensitive and specific marker for PTC cv, PTC tcv, and mPTC, with high overall specificity for PTC. PMID:27311870

  9. 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

    PubMed Central

    2010-01-01

    Background The 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level. To our knowledge, the 8p23.1 duplication syndrome has been described at prenatal diagnosis only once and we report our experience with four further apparent duplications ascertained at prenatal diagnosis. Methods Additional material at band 8p23.1 was detected using conventional G-banded cytogenetics in each case. Multiplex Ligation-dependent Probe Amplification (MLPA) or Fluorescence In Situ Hybridisation (FISH) were used depending on whether only DNA (Cases 1 and 4) or cytogenetic preparations (Cases 2 and 3) were available from the laboratory of origin. The extent of the duplication in Case 1 was retrospectively determined using array Comparative Genomic Hybridisation (array CGH). Results Three cases of 8p23.1 duplication syndrome were found (Cases 1 to 3). Two were de novo and continued to term and the third, a paternally transmitted duplication, was terminated because of a previous child with psychomotor delay and 8p23.1 duplication syndrome. Case 1 was ascertained with a hypoplastic left heart but the ventricular septal and interventricular defects, in Cases 2 and 3 respectively, were found after ascertainment for advanced maternal age. By contrast, case 4 was a maternally transmitted copy number variation of the defensin cluster with normal outcome. Conclusions Our data underline the need to differentiate 8p23.1 duplications from copy number variation of the defensin cluster using FISH, MLPA or array CGH. Cardiac defects were ascertained by ultrasound in only one of the three duplication 8p23.1 pregnancies but were visible in two of the three at 21 to 22 weeks gestation. Our results provide further evidence that both deletion and duplication of the GATA4 transcription factor can give rise to a variety of conotruncal heart defects with variable penetrance and expressivity. PMID

  10. Prenatal hydronephrosis.

    PubMed

    Fefer, Sergio; Ellsworth, Pamela

    2006-06-01

    Hydronephrosis is the most common genitourinary tract anomaly identified on prenatal ultrasound studies. Ureteropelvic junction obstruction accounts for approximately 50% of the cases of prenatally detected hydronephrosis. Postnatal evaluation allows for the identification of the cause and further management. Rarely, in utero intervention may be performed for severe oligohydramnios associated with hydronephrosis. Prenatal consultation with a pediatric urologist is useful in decreasing parental anxiety and facilitating postnatal management. PMID:16716789

  11. Impact of prenatal diagnosis by ultrasound on the prevalence of congenital anomalies at birth in southern France.

    PubMed Central

    Julian-Reynier, C; Philip, N; Scheiner, C; Aurran, Y; Chabal, F; Maron, A; Gombert, A; Aymé, S

    1994-01-01

    STUDY OBJECTIVE--The aims were (1) to assess whether termination of pregnancy after prenatal screening by ultrasound affected the prevalence of congenital anomalies at birth, and (2) to examine the trend of this pattern over time. DESIGN--This study deals with congenital anomalies, possibly detectable prenatally or at birth, which were classified as isolated and multiple anomalies; chromosomal anomalies were not included. The prevalence rates of congenital anomalies at birth were determined from case registration data in the Marseille district, France, from the registry of congenital malformations (Eurocat no 22), which covers 23,500 births a year. The chi 2 test for homogeneity in proportions was used to test whether the differences in the total prevalence rates were significant over time. SETTING--The population was defined as all children born to parents living in the Marseille district between January 1 1984 and December 31 1990. PATIENTS--Among the 164,509 pregnancy outcomes monitored during the study, 1795 children with a single congenital anomaly and 288 with multiple congenital anomalies detectable at birth were assessed. MEASUREMENTS AND MAIN RESULTS--The percentage of pregnancy terminations was higher in the case of multiple anomalies (16%) than with single ones (7.5%). Leaving aside the lethal birth defects, this percentage became 7.9% in the case of multiple anomalies and 4.3% with isolated ones. A significant increase (p < 0.001) occurred over the seven year study period in the total percentage of terminations because of isolated anomalies but not in that involving multiple ones. The increase observed in the former case was found to be mainly attributable to an increase in the number of terminations of pregnancy undertaken because of anomalies which were either lethal or associated with very low survival rates (p < 0.001). CONCLUSIONS--Termination of pregnancy after prenatal ultrasound examination was found to have a definite impact on the prevalence

  12. Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray

    PubMed Central

    Kim, Kyoung-Bo; Ha, Jung-Sook; Shin, So-Jin; Kim, Chun Soo

    2014-01-01

    We report a case of de novo 7q interstitial deletion detected by conventional karyotyping and by microarray of amniotic fluid sampled during the prenatal period. A 32-year-old pregnant woman was evaluated at our hospital following detection of increased nuchal translucency at 12 weeks and 5 days of gestation. Conventional karyotyping revealed 46,XX,del(7)(q21q22) in 20 interphase mitotic cells, and high-resolution microarray revealed 12.8 Mb (90,625,014-103,430,901) deletion in the region 7q21.13q22.1. Both parents had normal karyotypes. After birth, the neonate displayed several anomalies, including palatine cleft, upslanted and wide palpebral fissure, low-set ears, micrognathia, microcephaly, ventriculomegaly, subglottic tracheal stenosis, hearing loss, and hand/foot deformities, including brachydactyly, polydactyly, and cutaneous syndactyly. This case study helps explain the phenotype-genotype relationship in patients with 7q21.13q22.1 deletion. PMID:25105107

  13. 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

  14. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

    PubMed Central

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Bianca, Sebastiano; Doray, Berenice; Khoshnood, Babak; Klungsoyr, Kari; McDonnell, Bob; Pierini, Anna; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Queisser-Luft, Annette; Scarano, Gioacchino; Tucker, David

    2014-01-01

    Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990–2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia/ear anomalies and at least one major characteristic anomaly, was 3.8 per 100 000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder. PMID:24398798

  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. 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

  17. 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

  18. Prenatal Tests

    MedlinePlus

    ... tests are considered routine — that is, almost all pregnant women receiving prenatal care get them. They include things like checking urine levels for protein, sugar, or signs of infection. Other non- routine tests are recommended only for ...

  19. Strategy for prenatal diagnosis of osteogenesis imperfecta by linkage analysis to the type I collagen loci COL1A1 and COL1A2.

    PubMed

    Benušienė, E; Kučinskas, V

    2000-01-01

    To improve prenatal diagnosis of osteogenesis imperfecta (OI) in Lithuania, possibilities of indirect molecular genetic diagnosis were investigated in 11 families with dominant OI. Segregation of polymorphic DNA markers closely linked to COL1A1 and COL1A2 genes with OI phenotype was investigated. Polymorphic DNA markers applied were individual haplotypes constructed using a set of restriction enzyme sites within or close to the genes. Comparison of phenotypic features with the concordant collagen locus showed that in four pedigrees with OI Sillence type I segregated with COL1A1, while two pedigrees with OI Sillence type I and OI type IV segregated with COL1A2. Out of six remaining pedigrees with OI Sillence type I, three were concordant at both loci, two pedigrees were discordant at the locus COL1A2 and non-informative at the locus COL1A1 and one pedigree was concordant at the locus COL1A1 and non-informative at the locus COL1A2. Informativity of DNA markers applied was also investigated in the Lithuanian OI families. The frequencies of six restriction enzyme site dimorphisms in type I collagen loci were estimated and polymorphism information content (PIC) values were calculated for each restriction site and for a combination of three sites. COL1A1 locus dimorphisms A/MspI, B/RsaI and F/MnlI, showed PIC values of 0.327, 0.191 and 0.366, respectively, giving a combined PIC of 0.656 at the locus, while COL1A2 locus dimorphisms C/EcoRI, D/MspI and E/RsaI RFLPs had PIC values of 0.357, 0.168 and 0.331, respectively, giving a combined PIC of 0.655 at the locus. PMID:11208313

  20. A novel, integrated PET-guided MRS technique resulting in more accurate initial diagnosis of high-grade glioma.

    PubMed

    Kim, Ellen S; Satter, Martin; Reed, Marilyn; Fadell, Ronald; Kardan, Arash

    2016-06-01

    Glioblastoma multiforme (GBM) is the most common and lethal malignant glioma in adults. Currently, the modality of choice for diagnosing brain tumor is high-resolution magnetic resonance imaging (MRI) with contrast, which provides anatomic detail and localization. Studies have demonstrated, however, that MRI may have limited utility in delineating the full tumor extent precisely. Studies suggest that MR spectroscopy (MRS) can also be used to distinguish high-grade from low-grade gliomas. However, due to operator dependent variables and the heterogeneous nature of gliomas, the potential for error in diagnostic accuracy with MRS is a concern. Positron emission tomography (PET) imaging with (11)C-methionine (MET) and (18)F-fluorodeoxyglucose (FDG) has been shown to add additional information with respect to tumor grade, extent, and prognosis based on the premise of biochemical changes preceding anatomic changes. Combined PET/MRS is a technique that integrates information from PET in guiding the location for the most accurate metabolic characterization of a lesion via MRS. We describe a case of glioblastoma multiforme in which MRS was initially non-diagnostic for malignancy, but when MRS was repeated with PET guidance, demonstrated elevated choline/N-acetylaspartate (Cho/NAA) ratio in the right parietal mass consistent with a high-grade malignancy. Stereotactic biopsy, followed by PET image-guided resection, confirmed the diagnosis of grade IV GBM. To our knowledge, this is the first reported case of an integrated PET/MRS technique for the voxel placement of MRS. Our findings suggest that integrated PET/MRS may potentially improve diagnostic accuracy in high-grade gliomas. PMID:27122050

  1. 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. PMID:26703985

  2. Non-invasive prenatal diagnosis using fetal DNA in maternal plasma: a preliminary study for identification of paternally-inherited alleles using single nucleotide polymorphisms

    PubMed Central

    Chen, J J; Tan, J A M A; Chua, K H; Tan, P C; George, E

    2015-01-01

    Objectives Single nucleotide polymorphism (SNP) with a mutation can be used to identify the presence of the paternally-inherited wild-type or mutant allele as result of the inheritance of either allele in the fetus and allows the prediction of the fetal genotype. This study aims to identify paternal SNPs located at the flanking regions upstream or downstream from the β-globin gene mutations at CD41/42 (HBB:c.127_130delCTTT), IVS1-5 (HBB:c.92+5G>C) and IVS2-654 (HBB:c.316-197C>T) using free-circulating fetal DNA. Setting Haematology Lab, Department of Biomedical Science, University of Malaya. Participants Eight couples characterised as β-thalassaemia carriers where both partners posed the same β-globin gene mutations at CD41/42, IVS1-5 and IVS2-654, were recruited in this study. Outcome measures Genotyping was performed by allele specific-PCR and the locations of SNPs were identified after sequencing alignment. Results Genotype analysis revealed that at least one paternal SNP was present for each of the couples. Amplification on free-circulating DNA revealed that the paternal mutant allele of SNP was present in three fcDNA. Thus, the fetuses may be β-thalassaemia carriers or β-thalassaemia major. Paternal wild-type alleles of SNP were present in the remaining five fcDNA samples, thus indicating that the fetal genotypes would not be homozygous mutants. Conclusions This preliminary research demonstrates that paternal allele of SNP can be used as a non-invasive prenatal diagnosis approach for at-risk couples to determine the β-thalassaemia status of the fetus. PMID:26201722

  3. Sonographic measurement of the fetal rib cage perimeter to thoracic circumference ratio: application to prenatal diagnosis of skeletal dysplasias.

    PubMed

    Dugoff, L; Coffin, C T; Hobbins, J C

    1997-10-01

    The object of this study was to establish new normative data for the fetal rib cage perimeter to thoracic circumference ratio, and to evaluate the potential application of this measurement in the diagnosis of short rib and other skeletal dysplasias. Rib cage perimeter (RCP) and thoracic circumference (TC) were measured in a prospective, cross-sectional sample of 88 patients with normal pregnancies between 14 and 39 weeks of gestation. The RCP and TC were both measured in cross-section, at a level of the four-chamber view of the fetal heart. RCP and TC measurements were also obtained from eight cases known to have skeletal dysplasias. The mean (+/- SE) RCP:TC ratio in normal pregnancies, regardless of gestational age, was 0.670 +/- 0.004. In five of eight cases with skeletal dysplasias the RCP:TC ratio was significantly decreased, and in one case it was increased. The RCP:TC ratio in normal fetuses is independent of gestational age. In this small series the ratio was abnormal in fetuses with certain skeletal dysplasias, and particularly decreased in the fetus with a short rib-polydactyly syndrome. After further evaluation, this technique may prove to be of clinical significance in helping to diagnose skeletal dysplasias, particularly in cases where the gestational age is uncertain. PMID:9383879

  4. 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

  5. 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"…

  6. 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…

  7. A codon-usage variant in the (GGN){sub n} trinucleotide polymorphism of the androgen receptor gene as an aid in the prenatal diagnosis of ambiguous genitalia due to partial androgen insensitivity

    SciTech Connect

    Lumbroso, R.; Vasiliou, M.; Beitel, L.K.

    1994-09-01

    Exon 1 at the X-linked androgen receptor (AR) locus encodes an N-terminal modulatory domain that contains two large homopolyamino acid tracts: (CAG;glutamine;Gln){sub 11-33} and (GGN;Glycine;Cly){sub 15-27}. Certain AR mutations cause partial androgen insensitivity (PAI) with frank genital ambiguity that may engender appreciable parental anxiety and patient morbidity. If the AR mutation in a PAI family is unknown, the AR`s intragenic trinucleotide repeat polymorphisms may be used for prenatal diagnosis. However, intergenerational instability of repeat-size may be worrisome, particularly when the information alleles differ by only a few repeats. Here, we report the discovery of a codon-usage (silent substitution) variant in the GGN repeat, and describe its use as a source of complementary information for prenatal diagnosis. The standard sense sequence of the (GGN){sub n} tract is (GGT){sub 3} GGG(GGT){sub 2} (GGC){sub 9-21}. On 4 of 27 X chromosomes we noted that the internal GGT sequence was expanded to 3 or 4 repeats. We used an internal (GGT){sub 4} repeat in a total (GGN){sub 24} tract together with a (CAG){sub 20} tract to distinguish an X chromosome with a mutant AR allele from another X chromosome, bearing a normal allele, that had an internal (GGT){sub 2} repeat in a total (GGN){sub 23} tract together with a (CAG){sub 21} tract. Subsequently, we found the base change leading to a pathogenic amino acid substitution (M779I) in codon 6 of the mutant AR gene in an affected maternal aunt and the fetus at risk. This confirmed the prenatal diagnosis based on the intragenic trinucleotide repeat polymorphisms, and it strengthened the prediction of external genital ambiguity using our previous experience with M779I in another family.

  8. [Use of 4-methylumbelliferryl-alpha-L-iduronide and 4-trifluoromethylumbelliferryl-alpha-L-iduronide for detecting alpha-L-iduronidase deficiencies in human tissue and for rapid prenatal diagnosis of Hurler disease].

    PubMed

    Tsvetkova, I V; Karpova, E A; Voznyĭ, Ia V; Zolotukhina, T V; Biriukov, V B; Semiachkina, A N

    1991-01-01

    Activity of alpha-L-iduronidase was studied in leukocytes of healthy persons, of patients with Hurler disease and of heterozygous carriers of the disease where 4-methylumbelliferyl-alpha-L-iduronide and 4-trifluoromethylumbelliferyl-alpha-L-iduronide were used as substrates. 4-Trifluoromethylumbelliferyl-alpha-L-iduronide proved to be also a specific substrate of alpha-L-iduronidase and enabled to detect the enzyme deficiency in patients with Hurler disease as well as a decrease of the enzymatic activity in heterozygous carriers of the disease. Using these two substrates prenatal diagnosis of Hurler disease was carried out in fetus which exhibited absence of the enzymatic activity in cell culture from amniotic fluid. The diagnosis was corroborated after analysis of alpha-L-iduronidase activity in liver and kidney tissues of the fetus. 4-Trifluoromethylumbelliferyl-alpha-L-iduronide was very effective in express detection of alpha-L-iduronidase deficiency immediately in tissue slices as well as in placenta which is of importance in prenatal diagnosis of Hurler disease. PMID:1907053

  9. Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease.

    PubMed

    Tsvetkova, I V; Karpova, E A; Voznyi, Y V; Zolotukhina, T V; Biryukov, V V; Semyachkina, A N

    1991-01-01

    Results are presented of alpha-L-iduronidase assays in the leukocytes of normal individuals, patients with Hurler disease and heterozygous carriers. The assays were carried out using 4-methylumbelliferyl-alpha-L-iduronide and 4-trifluoromethylumbelliferyl-alpha-L-iduronide as substrates. It was shown that 4-trifluoromethylumbelliferyl-alpha-L-iduronide, along with the commonly used 4-methylumbelliferyl-alpha-L-iduronide, can serve as a specific substrate for alpha-L-iduronidase and is therefore suitable for demonstrating the enzyme deficiency in patients with Hurler disease, as well as the decrease of enzyme activity in heterozygous disease carriers. Using the two substrates a prenatal diagnosis of Hurler disease in a fetus was made on the basis of the lack of enzyme activity in amniotic fluid cell cultures. The diagnosis was confirmed by the results of alpha-L-iduronidase activity assay in fetal liver and kidney. It was found that 4-trifluoromethylumbelliferyl-alpha-L-iduronide is highly efficient for the rapid detection of alpha-L-iduronidase deficiency directly in pieces of tissues and in placenta, which is important for the prenatal diagnosis of Hurler disease. PMID:1909400

  10. A mathematical framework for combining decisions of multiple experts toward accurate and remote diagnosis of malaria using tele-microscopy.

    PubMed

    Mavandadi, Sam; Feng, Steve; Yu, Frank; Dimitrov, Stoyan; Nielsen-Saines, Karin; Prescott, William R; Ozcan, Aydogan

    2012-01-01

    We propose a methodology for digitally fusing diagnostic decisions made by multiple medical experts in order to improve accuracy of diagnosis. Toward this goal, we report an experimental study involving nine experts, where each one was given more than 8,000 digital microscopic images of individual human red blood cells and asked to identify malaria infected cells. The results of this experiment reveal that even highly trained medical experts are not always self-consistent in their diagnostic decisions and that there exists a fair level of disagreement among experts, even for binary decisions (i.e., infected vs. uninfected). To tackle this general medical diagnosis problem, we propose a probabilistic algorithm to fuse the decisions made by trained medical experts to robustly achieve higher levels of accuracy when compared to individual experts making such decisions. By modelling the decisions of experts as a three component mixture model and solving for the underlying parameters using the Expectation Maximisation algorithm, we demonstrate the efficacy of our approach which significantly improves the overall diagnostic accuracy of malaria infected cells. Additionally, we present a mathematical framework for performing 'slide-level' diagnosis by using individual 'cell-level' diagnosis data, shedding more light on the statistical rules that should govern the routine practice in examination of e.g., thin blood smear samples. This framework could be generalized for various other tele-pathology needs, and can be used by trained experts within an efficient tele-medicine platform. PMID:23071544

  11. A Mathematical Framework for Combining Decisions of Multiple Experts toward Accurate and Remote Diagnosis of Malaria Using Tele-Microscopy

    PubMed Central

    Mavandadi, Sam; Dimitrov, Stoyan; Nielsen-Saines, Karin; Prescott, William R.; Ozcan, Aydogan

    2012-01-01

    We propose a methodology for digitally fusing diagnostic decisions made by multiple medical experts in order to improve accuracy of diagnosis. Toward this goal, we report an experimental study involving nine experts, where each one was given more than 8,000 digital microscopic images of individual human red blood cells and asked to identify malaria infected cells. The results of this experiment reveal that even highly trained medical experts are not always self-consistent in their diagnostic decisions and that there exists a fair level of disagreement among experts, even for binary decisions (i.e., infected vs. uninfected). To tackle this general medical diagnosis problem, we propose a probabilistic algorithm to fuse the decisions made by trained medical experts to robustly achieve higher levels of accuracy when compared to individual experts making such decisions. By modelling the decisions of experts as a three component mixture model and solving for the underlying parameters using the Expectation Maximisation algorithm, we demonstrate the efficacy of our approach which significantly improves the overall diagnostic accuracy of malaria infected cells. Additionally, we present a mathematical framework for performing ‘slide-level’ diagnosis by using individual ‘cell-level’ diagnosis data, shedding more light on the statistical rules that should govern the routine practice in examination of e.g., thin blood smear samples. This framework could be generalized for various other tele-pathology needs, and can be used by trained experts within an efficient tele-medicine platform. PMID:23071544

  12. [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

  13. 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

  14. Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.

    PubMed

    Roses, A D

    2016-02-01

    Structural variants (SVs) include all insertions, deletions, and rearrangements in the genome, with several common types of nucleotide repeats including single sequence repeats, short tandem repeats, and insertion-deletion length variants. Polyallelic SVs provide highly informative markers for association studies with well-phenotyped cohorts. SVs can influence gene regulation by affecting epigenetics, transcription, splicing, and/or translation. Accurate assays of polyallelic SV loci are required to define the range and allele frequency of variable length alleles. PMID:26517180

  15. Prenatal management of disorders of sex development.

    PubMed

    Chitty, Lyn S; Chatelain, Pierre; Wolffenbuttel, Katja P; Aigrain, Yves

    2012-12-01

    Disorders of sex development (DSD) rarely present prenatally but, as they are very complex conditions, management should be directed by highly specialised medical teams to allow consideration of all aspects of diagnosis, treatment and ethical issues. In this brief review, we present an overview of the prenatal presentation and management of DSD, including the sonographic appearance of normal genitalia and methods of determining genetic sex, the prenatal management of pregnancies with the unexpected finding of genital ambiguity on prenatal ultrasound and a review of the prenatal management of pregnancies at high risk of DSD. As this is a rapidly developing field, management options will change over time, making the involvement of clinical geneticists, paediatric endocrinologists and urologists, as well as fetal medicine specialists, essential in the care of these complex pregnancies. The reader should also bear in mind that local social, ethical and legal aspects may also influence management. PMID:23131529

  16. Surgical biopsy with intra-operative frozen section. An accurate and cost-effective method for diagnosis of musculoskeletal sarcomas.

    PubMed

    Ashford, R U; McCarthy, S W; Scolyer, R A; Bonar, S F; Karim, R Z; Stalley, P D

    2006-09-01

    The most appropriate protocol for the biopsy of musculoskeletal tumours is controversial, with some authors advocating CT-guided core biopsy. At our hospital the initial biopsies of most musculoskeletal tumours has been by operative core biopsy with evaluation by frozen section which determines whether diagnostic tissue has been obtained and, if possible, gives the definitive diagnosis. In order to determine the accuracy and cost-effectiveness of this protocol we have undertaken a retrospective audit of biopsies of musculoskeletal tumours performed over a period of two years. A total of 104 patients had biopsies according to this regime. All gave the diagnosis apart from one minor error which did not alter the management of the patient. There was no requirement for re-biopsy. This protocol was more labour-intensive and 38% more costly than CT-guided core biopsy (AU$1804 vs AU$1308). However, the accuracy and avoidance of the anxiety associated with repeat biopsy outweighed these disadvantages. PMID:16943474

  17. Prenatal diagnosis of vitamin D-dependent rickets, type II: response to 1,25-dihydroxyvitamin D in amniotic fluid cells and fetal tissues.

    PubMed

    Weisman, Y; Jaccard, N; Legum, C; Spirer, Z; Yedwab, G; Even, L; Edelstein, S; Kaye, A M; Hochberg, Z

    1990-10-01

    , human fetuses at midgestation already have the regulatory mechanisms responsive to 1,25-(OH)2D3 present postnatally. The prenatal diagnosis of VDDR-II is now possible and is indicated in a high risk family. PMID:2169482

  18. Recommendations for accurate CT diagnosis of suspected acute aortic syndrome (AAS)—on behalf of the British Society of Cardiovascular Imaging (BSCI)/British Society of Cardiovascular CT (BSCCT)

    PubMed Central

    Nicol, Edward; Morgan-Hughes, Gareth; Roobottom, Carl A; Roditi, Giles; Hamilton, Mark C K; Bull, Russell K; Pugliese, Franchesca; Williams, Michelle C; Stirrup, James; Padley, Simon; Taylor, Andrew; Davies, L Ceri; Bury, Roger; Harden, Stephen

    2016-01-01

    Accurate and timely assessment of suspected acute aortic syndrome is crucial in this life-threatening condition. Imaging with CT plays a central role in the diagnosis to allow expedited management. Diagnosis can be made using locally available expertise with optimized scanning parameters, making full use of recent advances in CT technology. Each imaging centre must optimize their protocols to allow accurate diagnosis, to optimize radiation dose and in particular to reduce the risk of false-positive diagnosis that may simulate disease. This document outlines the principles for the acquisition of motion-free imaging of the aorta in this context. PMID:26916280

  19. Recommendations for accurate CT diagnosis of suspected acute aortic syndrome (AAS)-on behalf of the British Society of Cardiovascular Imaging (BSCI)/British Society of Cardiovascular CT (BSCCT).

    PubMed

    Vardhanabhuti, Varut; Nicol, Edward; Morgan-Hughes, Gareth; Roobottom, Carl A; Roditi, Giles; Hamilton, Mark C K; Bull, Russell K; Pugliese, Franchesca; Williams, Michelle C; Stirrup, James; Padley, Simon; Taylor, Andrew; Davies, L Ceri; Bury, Roger; Harden, Stephen

    2016-05-01

    Accurate and timely assessment of suspected acute aortic syndrome is crucial in this life-threatening condition. Imaging with CT plays a central role in the diagnosis to allow expedited management. Diagnosis can be made using locally available expertise with optimized scanning parameters, making full use of recent advances in CT technology. Each imaging centre must optimize their protocols to allow accurate diagnosis, to optimize radiation dose and in particular to reduce the risk of false-positive diagnosis that may simulate disease. This document outlines the principles for the acquisition of motion-free imaging of the aorta in this context. PMID:26916280

  20. Successful application of enzyme-labeled oligonucleotide probe for rapid and accurate cholera diagnosis in a clinical laboratory.

    PubMed

    Miyagi, K; Matsumoto, Y; Hayashi, K; Yoh, M; Yamamoto, K; Honda, T

    1994-01-01

    Two cholera cases were diagnosed using an enzyme-labeled oligonucleotide probe (ELONP) hybridization test for detection of cholera toxin gene (ctx) in a clinical laboratory at Osaka Airport Quarantine Station. The ELONP test with suspicious colonies of Vibrio cholerae O1 grown on TCBS or Vibrio agar plates gave positive result for ctx within 3 hr. We also tried to apply the ELONP test for direct detection of ctx in their stool and their non-selective culture. Specimens from Case #1, which contained 5.9 x 10(5) CFU/g of V. cholerae O1 in the stool, cultured for 7-8 hr or longer in alkaline peptone water or Marine broth at 37C, became positive for ctx. On the other hand, specimens from Case #2, which contained 8.7 x 10(8) CFU/ml (of V. cholerae O1 in the stool), gave positive result in this stool itself without any further culture. These data suggest that the ELONP test provides successfully a more rapid and accurate means of identifying "toxigenic" V. cholerae O1 in a clinical laboratory. PMID:7935049

  1. Accurate diagnosis of myalgic encephalomyelitis and chronic fatigue syndrome based upon objective test methods for characteristic symptoms

    PubMed Central

    Twisk, Frank NM

    2015-01-01

    Although myalgic encephalomyelitis (ME) and chronic fatigue syndrome (CFS) are considered to be synonymous, the definitional criteria for ME and CFS define two distinct, partially overlapping, clinical entities. ME, whether defined by the original criteria or by the recently proposed criteria, is not equivalent to CFS, let alone a severe variant of incapacitating chronic fatigue. Distinctive features of ME are: muscle weakness and easy muscle fatigability, cognitive impairment, circulatory deficits, a marked variability of the symptoms in presence and severity, but above all, post-exertional “malaise”: a (delayed) prolonged aggravation of symptoms after a minor exertion. In contrast, CFS is primarily defined by (unexplained) chronic fatigue, which should be accompanied by four out of a list of 8 symptoms, e.g., headaches. Due to the subjective nature of several symptoms of ME and CFS, researchers and clinicians have questioned the physiological origin of these symptoms and qualified ME and CFS as functional somatic syndromes. However, various characteristic symptoms, e.g., post-exertional “malaise” and muscle weakness, can be assessed objectively using well-accepted methods, e.g., cardiopulmonary exercise tests and cognitive tests. The objective measures acquired by these methods should be used to accurately diagnose patients, to evaluate the severity and impact of the illness objectively and to assess the positive and negative effects of proposed therapies impartially. PMID:26140274

  2. Accurate diagnosis of myalgic encephalomyelitis and chronic fatigue syndrome based upon objective test methods for characteristic symptoms.

    PubMed

    Twisk, Frank Nm

    2015-06-26

    Although myalgic encephalomyelitis (ME) and chronic fatigue syndrome (CFS) are considered to be synonymous, the definitional criteria for ME and CFS define two distinct, partially overlapping, clinical entities. ME, whether defined by the original criteria or by the recently proposed criteria, is not equivalent to CFS, let alone a severe variant of incapacitating chronic fatigue. Distinctive features of ME are: muscle weakness and easy muscle fatigability, cognitive impairment, circulatory deficits, a marked variability of the symptoms in presence and severity, but above all, post-exertional "malaise": a (delayed) prolonged aggravation of symptoms after a minor exertion. In contrast, CFS is primarily defined by (unexplained) chronic fatigue, which should be accompanied by four out of a list of 8 symptoms, e.g., headaches. Due to the subjective nature of several symptoms of ME and CFS, researchers and clinicians have questioned the physiological origin of these symptoms and qualified ME and CFS as functional somatic syndromes. However, various characteristic symptoms, e.g., post-exertional "malaise" and muscle weakness, can be assessed objectively using well-accepted methods, e.g., cardiopulmonary exercise tests and cognitive tests. The objective measures acquired by these methods should be used to accurately diagnose patients, to evaluate the severity and impact of the illness objectively and to assess the positive and negative effects of proposed therapies impartially. PMID:26140274

  3. A new method of accurate broken rotor bar diagnosis based on modulation signal bispectrum analysis of motor current signals

    NASA Astrophysics Data System (ADS)

    Gu, F.; Wang, T.; Alwodai, A.; Tian, X.; Shao, Y.; Ball, A. D.

    2015-01-01

    Motor current signature analysis (MCSA) has been an effective way of monitoring electrical machines for many years. However, inadequate accuracy in diagnosing incipient broken rotor bars (BRB) has motivated many studies into improving this method. In this paper a modulation signal bispectrum (MSB) analysis is applied to motor currents from different broken bar cases and a new MSB based sideband estimator (MSB-SE) and sideband amplitude estimator are introduced for obtaining the amplitude at (1 ± 2 s)fs (s is the rotor slip and fs is the fundamental supply frequency) with high accuracy. As the MSB-SE has a good performance of noise suppression, the new estimator produces more accurate results in predicting the number of BRB, compared with conventional power spectrum analysis. Moreover, the paper has also developed an improved model for motor current signals under rotor fault conditions and an effective method to decouple the BRB current which interferes with that of speed oscillations associated with BRB. These provide theoretical supports for the new estimators and clarify the issues in using conventional bispectrum analysis.

  4. The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

    PubMed Central

    Spinelli, Marialuigia; Sica, Carmine; Novelli, Antonio; Di Meglio, Letizia; Martinelli, Pasquale

    2015-01-01

    Background. Prenatal diagnosis of Optiz G/BBB syndrome (OS) is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unless a specific diagnosis is suggested. Method. Both familial and ultrasound data were used to achieve the diagnosis of X-linked OS (XLOS), which was confirmed by molecular testing of MID1 gene (Xp22.3) at birth. Results. Sequencing of MID1 gene disclosed the nucleotide change c.1285 +1 G>T, previously associated with XLOS. Conclusions. This case illustrates current challenges of the prenatal diagnostic work-up of XLOS and exemplifies how clinical investigation, including family history, and accurate US foetal investigations can lead to the correct diagnosis. PMID:26064728

  5. Can optical diagnosis of small colon polyps be accurate? Comparing standard scope without narrow banding to high definition scope with narrow banding

    PubMed Central

    Ashktorab, Hassan; Etaati, Firoozeh; Rezaeean, Farahnaz; Nouraie, Mehdi; Paydar, Mansour; Namin, Hassan Hassanzadeh; Sanderson, Andrew; Begum, Rehana; Alkhalloufi, Kawtar; Brim, Hassan; Laiyemo, Adeyinka O

    2016-01-01

    AIM: To study the accuracy of using high definition (HD) scope with narrow band imaging (NBI) vs standard white light colonoscope without NBI (ST), to predict the histology of the colon polyps, particularly those < 1 cm. METHODS: A total of 147 African Americans patients who were referred to Howard University Hospital for screening or, diagnostic or follow up colonoscopy, during a 12-mo period in 2012 were prospectively recruited. Some patients had multiple polyps and total number of polyps was 179. Their colonoscopies were performed by 3 experienced endoscopists who determined the size and stated whether the polyps being removed were hyperplastic or adenomatous polyps using standard colonoscopes or high definition colonoscopes with NBI. The histopathologic diagnosis was reported by pathologists as part of routine care. RESULTS: Of participants in the study, 55 (37%) were male and median (interquartile range) of age was 56 (19-80). Demographic, clinical characteristics, past medical history of patients, and the data obtained by two instruments were not significantly different and two methods detected similar number of polyps. In ST scope 89% of polyps were < 1 cm vs 87% in HD scope (P = 0.7). The ST scope had a positive predictive value (PPV) and positive likelihood ratio (PLR) of 86% and 4.0 for adenoma compared to 74% and 2.6 for HD scope. There was a trend of higher sensitivity for HD scope (68%) compare to ST scope (53%) with almost the same specificity. The ST scope had a PPV and PLR of 38% and 1.8 for hyperplastic polyp (HPP) compared to 42% and 2.2 for HD scope. The sensitivity and specificity of two instruments for HPP diagnosis were similar. CONCLUSION: Our results indicated that HD scope was more sensitive in diagnosis of adenoma than ST scope. Clinical diagnosis of HPP with either scope is less accurate compared to adenoma. Colonoscopy diagnosis is not yet fully matched with pathologic diagnosis of colon polyp. However with the advancement of both

  6. 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 ...

  7. An interesting case of cryptogenic stroke in a young man due to left ventricular non-compaction: role of cardiac MRI in the accurate diagnosis

    PubMed Central

    Kannan, Arun; Das, Anindita; Janardhanan, Rajesh

    2014-01-01

    A 28-year-old man arrived for an outpatient cardiac MRI (CMR) study to evaluate cardiac structure. At the age of 24 the patient presented with acute onset expressive aphasia and was diagnosed with ischaemic stroke. Echocardiography at that time was reported as ‘apical wall thickening consistent with apical hypertrophic cardiomyopathy’. CMR revealed a moderately dilated left ventricle with abnormal appearance of the left ventricular (LV) apical segments. Further evaluation was consistent with a diagnosis of LV non­compaction (LVNC) cardiomyopathy with a ratio of non­compacted to compacted myocardium measuring 3. There was extensive delayed hyperenhancement signal involving multiple segments representing a significant myocardial scar which is shown to have a prognostic role. Our patient, with no significant cerebrovascular risk factors, would likely have had an embolic stroke. This case demonstrates the role of CMR in accurately diagnosing LVNC in a patient with young stroke where prior echocardiography was non­diagnostic. PMID:24962593

  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. PMID:3516893

  9. Intestinal Intraepithelial Lymphocyte Cytometric Pattern Is More Accurate than Subepithelial Deposits of Anti-Tissue Transglutaminase IgA for the Diagnosis of Celiac Disease in Lymphocytic Enteritis

    PubMed Central

    García-Puig, Roger; Rosinach, Mercè; González, Clarisa; Alsina, Montserrat; Loras, Carme; Salas, Antonio; Viver, Josep M.; Esteve, Maria

    2014-01-01

    Background & Aims An increase in CD3+TCRγδ+ and a decrease in CD3− intraepithelial lymphocytes (IEL) is a characteristic flow cytometric pattern of celiac disease (CD) with atrophy. The aim was to evaluate the usefulness of both CD IEL cytometric pattern and anti-TG2 IgA subepithelial deposit analysis (CD IF pattern) for diagnosing lymphocytic enteritis due to CD. Methods Two-hundred and five patients (144 females) who underwent duodenal biopsy for clinical suspicion of CD and positive celiac genetics were prospectively included. Fifty had villous atrophy, 70 lymphocytic enteritis, and 85 normal histology. Eight patients with non-celiac atrophy and 15 with lymphocytic enteritis secondary to Helicobacter pylori acted as control group. Duodenal biopsies were obtained to assess both CD IEL flow cytometric (complete or incomplete) and IF patterns. Results Sensitivity of IF, and complete and incomplete cytometric patterns for CD diagnosis in patients with positive serology (Marsh 1+3) was 92%, 85 and 97% respectively, but only the complete cytometric pattern had 100% specificity. Twelve seropositive and 8 seronegative Marsh 1 patients had a CD diagnosis at inclusion or after gluten free-diet, respectively. CD cytometric pattern showed a better diagnostic performance than both IF pattern and serology for CD diagnosis in lymphocytic enteritis at baseline (95% vs 60% vs 60%, p = 0.039). Conclusions Analysis of the IEL flow cytometric pattern is a fast, accurate method for identifying CD in the initial diagnostic biopsy of patients presenting with lymphocytic enteritis, even in seronegative patients, and seems to be better than anti-TG2 intestinal deposits. PMID:25010214

  10. Prenatal ultrasound - slideshow

    MedlinePlus

    ... page: //medlineplus.gov/ency/presentations/100197.htm Prenatal ultrasound - series To use the sharing features on this ... Editorial team. Related MedlinePlus Health Topics Prenatal Testing Ultrasound A.D.A.M., Inc. is accredited by ...

  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. Optimal Prenatal Care

    PubMed Central

    Reynolds, J. L.

    1982-01-01

    Optimal prenatal care begins before conception, when health habits can be reviewed. The most important task of the initial prenatal assessment is establishing dates. Ongoing assessments should emphasize measurement of symphisis to fundus height, maternal nutrition and screening, especially for urinary tract infection and gestational diabetes. Prenatal care is an excellent opportunity for patient education and involvement of the family. Good prenatal care is today's best health investment. PMID:21286515

  13. Histologic subtypes, immunohistochemistry, FISH or molecular screening for the accurate diagnosis of ALK-rearrangement in lung cancer: a comprehensive study of Caucasian non-smokers.

    PubMed

    Just, Pierre-Alexandre; Cazes, Aurélie; Audebourg, Anne; Cessot, Anatole; Pallier, Karine; Danel, Claire; Vacher-Lavenu, Marie-Cécile; Laurent-Puig, Pierre; Terris, Benoît; Blons, Hélène

    2012-06-01

    EML4-ALK adenocarcinomas constitute a new molecular subgroup of lung tumours that respond very well to crizotinib, an ALK inhibitor. However, the diagnosis of ALK rearrangement in lung cancer is challenging. The aim of this study was to compare the diagnostic accuracy of five different methods in a series of 20 EGFR(wt/wt) lung adenocarcinomas from non- or light- smokers. Multiplex RT-PCR was considered as gold standard and identified four ALK-rearranged tumours among the 20 tested tumours. qRT-PCR got an interpretability rate of 100% and accurately typed all 20 tumours. qRT-PCR from corresponding formalin-fixed paraffin-embedded (FFPE) specimens got an interpretability rate of 65%. Out of the four previously identified ALK-rearranged cases, three were interpretable and two were retrieved using FFPE qRT-PCR. ALK break-apart FISH got an interpretability rate of 60% and accurately typed all of the twelve remaining cases. Anti-ALK immunohistochemistry (IHC) accurately typed all twenty tumours using a cut-off value of strong staining of 100% tumour cells. The 16 non ALK-rearranged tumours got no/light staining in 13 cases, and a moderate staining of 80-100% tumour cells in 3 cases. We then analysed four solid signet-ring lung adenocarcinomas. FFPE qRT-PCR, FISH and immunohistochemistry were concordant in three cases, with positive and negative results in respectively one and two cases. The fourth case, which was positive by FISH and immunohistochemistry but negative by RT-PCR, was shown to have a non-EML4-ALK ALK-rearrangement. As various factors such as RNA quality, fixation quality and type of ALK rearrangement may impede ALK screening, we propose a combined FISH/molecular biology diagnostic algorithm in which anti-ALK immunohistochemistry is used as a pre-screening step. PMID:22153831

  14. An update on current prenatal testing options: first trimester and noninvasive prenatal testing.

    PubMed

    Latendresse, Gwen; Deneris, Angela

    2015-01-01

    Prenatal genetic testing is rapidly evolving and requires that prenatal care providers stay up-to-date with accurate, evidence-based knowledge. Noninvasive prenatal testing (NIPT), first trimester maternal serum markers, and fetal nuchal translucency are the most recently developed screening tests added to the testing repertoire for detection of chromosomal disorders such as trisomy 21 (Down syndrome). NIPT is a new, highly accurate technique that uses maternal serum and is rapidly being introduced as a first trimester screening tool and increasingly being requested by pregnant women. The American College of Obstetricians and Gynecologists recommends that all pregnant women be offered first and second trimester screening options, regardless of risk status, but does not yet recommend NIPT. It is important for prenatal care providers to be aware of and understand these testing options in order to assist women and their families in making well-informed decisions during pregnancy. The purpose of this article is to update midwives and other prenatal care providers on the current prenatal genetic testing options available and how to appropriately offer and discuss them with their clients. We discuss how these tests work; what to do with the results; and most importantly, how to support and communicate accurate information to women and families as they navigate through an increasingly complicated array of testing choices. PMID:25712277

  15. Prenatal diagnsis of intracardiac hamartoma and Turner syndrome.

    PubMed

    Gedikbasi, Ali; Oztarhan, Kazim; Yararbas, Kanay; Arslan, Oguz; Yildirim, Dogukan; Oztek, Ibrahim; Ceylan, Yavuz

    2010-01-01

    Turner syndrome is associated with a higher frequency of heart defects detected prenatally when compared to postnatal reports. The most common heart defects detected prenatally are hypoplastic left heart syndrome and coarctation of the aorta. We report a case involving a fetus at 16 gestational weeks with a septated cystic hygroma located on the neck and head, an interventricular septal mass, a hypoplastic left ventricle due to aortic stenosis, mitral stenosis, and a hypoplastic aortic arch with a karyotype of mos 45, X, [47 cells]/47, XXX [3 cells]. The autopsy findings confirmed our prenatal diagnosis with a final diagnosis of Turner syndrome and congenital cardiac vascular malformation. PMID:20704479

  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. PMID:24989832

  18. Examination of products of conception terminated after prenatal investigation.

    PubMed Central

    Knowles, S

    1986-01-01

    A large number of district general hospitals have access to diagnostic ultrasonography and other methods of prenatal diagnosis, resulting in an increased supply of freshly terminated malformed fetuses to general histopathology departments, and there is now more open discussion of malformation and greater concern over fetal wastage. General pathologists are therefore under greater pressure to produce complete and detailed descriptions of a wide range of often complex anomalies. The dismissal of specimens as "multiple congenital anomalies" is becoming increasingly unacceptable to couples who wish to embark on further pregnancies and to their medical attendants. As in other fields an understanding of the methods and terminology in clinical use and a consistent diagnostic approach should help pathologists to extract sufficient information for accurate counselling. Images PMID:3537013

  19. The status of and future research into Myalgic Encephalomyelitis and Chronic Fatigue Syndrome: the need of accurate diagnosis, objective assessment, and acknowledging biological and clinical subgroups

    PubMed Central

    Twisk, Frank N. M.

    2014-01-01

    Although Myalgic Encephalomyelitis (ME) and Chronic Fatigue Syndrome (CFS) are used interchangeably, the diagnostic criteria define two distinct clinical entities. Cognitive impairment, (muscle) weakness, circulatory disturbances, marked variability of symptoms, and, above all, post-exertional malaise: a long-lasting increase of symptoms after a minor exertion, are distinctive symptoms of ME. This latter phenomenon separates ME, a neuro-immune illness, from chronic fatigue (syndrome), other disorders and deconditioning. The introduction of the label, but more importantly the diagnostic criteria for CFS have generated much confusion, mostly because chronic fatigue is a subjective and ambiguous notion. CFS was redefined in 1994 into unexplained (persistent or relapsing) chronic fatigue, accompanied by at least four out of eight symptoms, e.g., headaches and unrefreshing sleep. Most of the research into ME and/or CFS in the last decades was based upon the multivalent CFS criteria, which define a heterogeneous patient group. Due to the fact that fatigue and other symptoms are non-discriminative, subjective experiences, research has been hampered. Various authors have questioned the physiological nature of the symptoms and qualified ME/CFS as somatization. However, various typical symptoms can be assessed objectively using standardized methods. Despite subjective and unclear criteria and measures, research has observed specific abnormalities in ME/CFS repetitively, e.g., immunological abnormalities, oxidative and nitrosative stress, neurological anomalies, circulatory deficits and mitochondrial dysfunction. However, to improve future research standards and patient care, it is crucial that patients with post-exertional malaise (ME) and patients without this odd phenomenon are acknowledged as separate clinical entities that the diagnosis of ME and CFS in research and clinical practice is based upon accurate criteria and an objective assessment of characteristic symptoms

  20. 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

  1. Non-invasive prenatal diagnosis of β-thalassemia by detection of the cell-free fetal DNA in maternal circulation: a systematic review and meta-analysis.

    PubMed

    Zafari, Mandana; Kosaryan, Mehrnoush; Gill, Pooria; Alipour, Abbass; Shiran, Mohammadreza; Jalalli, Hossein; Banihashemi, Ali; Fatahi, Fatemeh

    2016-08-01

    The discovery of fetal DNA (f-DNA) opens the possibility of early non-invasive procedure for detection of paternally inherited mutation of beta-thalassemia. Since 2002, some studies have examined the sensitivity and specificity of this method for detection of paternally inherited mutation of thalassemia in pregnant women at risk of having affected babies. We conducted a systematic review of published articles that evaluated using this method for early detection of paternally inherited mutation in maternal plasma. A sensitive search of multiple databases was done in which nine studies met our inclusion criteria. The sensitivity and specificity was 99 and 99 %, respectively. The current study found that detection of paternally inherited mutation of thalassemia using analysis of cell-free fetal DNA is highly accurate. This method could replace conventional and invasive methods. PMID:26968552

  2. 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

  3. Testing and Diagnosis of CMV Infection

    MedlinePlus

    ... Hygiene CDC Feature on Prenatal Infections Testing and Diagnosis of CMV Infection Recommend on Facebook Tweet Share ... Tests that detect the virus are used to diagnosis CMV infection at birth (congenital CMV infection). A ...

  4. 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

  5. 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. PMID:26931242

  6. 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. PMID:22581420

  7. Understanding Prenatal Tests

    MedlinePlus

    ... several things, particularly the risk of Down Syndrome. Rh Incompatibility This test determines whether the mother and ... at the first prenatal visit. If there is Rh incompatibility, treatments can help prevent later complications. Ultrasound ...

  8. Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

    PubMed Central

    Gravholt, C. H.; Juul, S.; Naeraa, R. W.; Hansen, J.

    1996-01-01

    OBJECTIVE--To study prevalence of Turner's syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN--Study of data on prenatal and postnatal Turner's syndrome in Danish Cytogenetic Central Register. SUBJECTS--All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES--Prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. RESULTS--Among infant girls, prevalence of Turner's syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner's syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner's syndrome of between 21% and 67%. There was no significant relation between mother's age and risk of Turner's syndrome. CONCLUSIONS--Discrepancy between prenatal and postnatal prevalence of Turner's syndrome challenges specificity of prenatal examination in diagnosing Turner's syndrome. PMID:8555850

  9. 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

  10. A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis

    PubMed Central

    Bo, Ryosuke; Hasegawa, Yuki; Yamada, Kenji; Kobayashi, Hironori; Taketani, Takeshi; Fukuda, Seiji; Yamaguchi, Seiji

    2015-01-01

    Mitochondrial trifunctional protein (TFP) is a multienzyme complex that catalyzes the last three steps of the β-oxidation cycle of long-chain fatty acids. In the prenatal diagnosis of TFP deficiency, acylcarnitine (AC) analysis has been considered difficult because of limited excretion of long-chain ACs into the fetal urine and hence into the amniotic fluid. Here, we report our experience with prenatally diagnosing TFP deficiency using AC analysis of amniotic fluid. The index case was a boy born at 38 weeks gestation and weighing 2588 g. He suddenly became unconscious and hypoglycemic and died on day 6 of life. Postmortem blood AC analysis and gene sequencing revealed TFP deficiency. Therefore, the parents underwent prenatal diagnoses for their subsequent 2 pregnancies. Mutation analysis suggested that one (Case 1) was affected and the other (Case 2) was not. AC analysis also demonstrated identical results, with significantly elevated 3-hydroxy-AC levels in the amniotic fluid of the affected pregnancy compared with those of heterozygotes and normal controls (n = 2 for heterozygotes and n = 8 for normal controls). Our findings suggest that AC analysis can functionally confirm results even in families with unidentified mutations, without raising issues related to maternal cell contamination. During prenatal diagnosis, misdiagnosis has to be avoided, and combining AC analysis with gene sequencing may result in more accurate prenatal diagnosis of TFP deficiency. PMID:27014569

  11. Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

    PubMed Central

    Marcato, Livia; Turolla, Licia; Pompilii, Eva; Dupont, Celine; Gruchy, Nicolas; De Toffol, Simona; Bracalente, Gabriella; Bacrot, Severine; Troilo, Enzo; Tabet, Anne C; Rossi, Sabrina; Delezoïde, Anne L; Baldo, Demetrio; Leporrier, Nathalie; Maggi, Federico; Molin, Arnaud; Pilu, Gianluigi; Simoni, Giuseppe; Vialard, Francois; Grati, Francesca R

    2014-01-01

    Key Clinical Message Copy losses/gains of the Williams–Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first reciprocal duplication prenatal cases are described with a review of the literature. PMID:25356238

  12. Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications.

    PubMed

    Wou, Karen; Levy, Brynn; Wapner, Ronald J

    2016-06-01

    Chromosomal microarray analysis has replaced conventional G-banded karyotype in prenatal diagnosis as the first-tier test for the cytogenetic detection of copy number imbalances in fetuses with/without major structural abnormalities. This article reviews the basic technology of microarray; the value and clinical significance of the detection of microdeletions, microduplications, and other copy number variants; as well as the importance of genetic counseling for prenatal diagnosis. It also discusses the current status of noninvasive screening for some of these microdeletion and microduplication syndromes. PMID:27235911

  13. 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 ...

  14. 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)

  15. Why Take a Prenatal Supplement?

    MedlinePlus

    ... Newsroom Dietary Guidelines Communicator’s Guide Why take a prenatal supplement? You are here Home / Audience / Adults / Moms/ Moms-to-Be / Dietary Supplements Why take a prenatal supplement? Print Share During pregnancy, your needs increase ...

  16. 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 ...

  17. 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

  18. Comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection.

    PubMed

    Wang, Yanlin; Wen, Zujia; Shen, Jiawei; Cheng, Weiwei; Li, Jun; Qin, Xiaolan; Ma, Duan; Shi, Yongyong

    2014-07-01

    Semiconductor high-throughput sequencing, represented by Ion Torrent PGM/Proton, proves to be feasible in the noninvasive prenatal diagnosis of fetal aneuploidies. It is commendable that, with less data and relevant cost also, an accurate result can be achieved owing to the high sensitivity and specificity of such kind of technology. We conducted a comparative analysis of the performance of four different Ion chips in detecting fetal chromosomal aneuploidies. Eight maternal plasma DNA samples, including four pregnancies with normal fetuses and four with trisomy 21 fetuses, were sequenced on Ion Torrent 314/316/318/PI chips, respectively. Results such as read mapped ratio, correlation coefficient and phred quality score were calculated and parallelly compared. All samples were correctly classified even with low-throughput chip, and, among the four chips, the 316 chip had the highest read mapped ratio, correlation coefficient, mean read length and phred quality score. All chips were well consistent with each other. Our results showed that all Ion chips are applicable in noninvasive prenatal fetal aneuploidy diagnosis. We recommend researchers or clinicians to use the appropriate chip with barcoding technology on the basis of the sample number. PMID:24919645

  19. 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 ...

  20. Postmortem CT is more accurate than clinical diagnosis for identifying the immediate cause of death in hospitalized patients: a prospective autopsy-based study.

    PubMed

    Inai, Kunihiro; Noriki, Sakon; Kinoshita, Kazuyuki; Sakai, Toyohiko; Kimura, Hirohiko; Nishijima, Akihiko; Iwasaki, Hiromichi; Naiki, Hironobu

    2016-07-01

    Despite 75 to 90 % physician accuracy in determining the underlying cause of death, precision of determination of the immediate cause of death is approximately 40 %. In contrast, two thirds of immediate causes of death in hospitalized patients are correctly diagnosed by postmortem computed tomography (CT). Postmortem CT might provide an alternative approach to verifying the immediate cause of death. To evaluate the effectiveness of postmortem CT as an alternative method to determine the immediate cause of death in hospitalized patients, an autopsy-based prospective study was performed. Of 563 deaths from September 2011 to August 2013, 50 consecutive cadavers undergoing hospital autopsies with consent for additional postmortem CT at the University of Fukui were enrolled. The accuracy of determination of the immediate cause of death by postmortem CT was evaluated in these patients. Diagnostic discrepancy was also compared between radiologists and attending physicians. The immediate cause of death was correctly diagnosed in 37 of 50 subjects using postmortem CT (74 %), concerning 29 cases of respiratory failure, 4 of hemorrhage, 3 of liver failure and 1 of septic shock. Six cases of organ failure involving 13 patients were not identified as the cause of death by postmortem CT. Regarding the immediate cause of death, accuracy of clinical diagnosis was significantly lower than that of postmortem CT (46 vs 74 %, P < 0.01). Postmortem CT may be more useful than clinical diagnosis for identifying the immediate cause of death in hospitalized patients not undergoing autopsy. PMID:27085336

  1. 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

  2. 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

  3. PCR testing can be as accurate as culture for diagnosis of Ichthyophonus hoferi in Yukon River Chinook salmon Oncorhynchus tshawytscha .

    PubMed

    Hamazaki, Toshihide; Kahler, Eryn; Borba, Bonnie M; Burton, Tamara

    2013-07-01

    We evaluated the comparability of culture and PCR tests for detecting Ichthyophonus in Yukon River Chinook salmon Oncorhynchus tshawytscha from field samples collected at 3 locations (Emmonak, Chena, and Salcha, Alaska, USA) in 2004, 2005, and 2006. Assuming diagnosis by culture as the 'true' infection status, we calculated the sensitivity (correctly identifying fish positive for Ichthyophonus), specificity (correctly identifying fish negative for Ichthyophonus), and accuracy (correctly identifying both positive and negative fish) of PCR. Regardless of sampling locations and years, sensitivity, specificity, and accuracy exceeded 90%. Estimates of infection prevalence by PCR were similar to those by culture, except for Salcha 2005, where prevalence by PCR was significantly higher than that by culture (p < 0.0001). These results show that the PCR test is comparable to the culture test for diagnosing Ichthyophonus infection. PMID:23836767

  4. 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…

  5. [Prenatal care in Germany].

    PubMed

    Vetter, K; Goeckenjan, M

    2013-12-01

    Prenatal care in Germany is based on a nationwide standardized program of care for pregnant women. Besides support and health counseling, it comprises prevention or early detection of diseases or unfavorable circumstances with risks for mother and child. Prenatal care is regulated by law and structured by directives and standard procedures in maternity guidelines (Mutterschafts-Richtlinien). This includes information and counseling of future mothers on offers of psychosocial and medical assistance in normal pregnancies as well as in unplanned or unwanted pregnancies. Further aspects are clinical examinations and risk determinations for genetic variations or direct genetic analysis. During pregnancy, medical history, clinical examination, and blood testing are part of the sophisticated program, which includes at least three standardized sonographic examinations at 10, 20, and 30 weeks of gestation. The maternity passport allows a pregnant woman to carry the most relevant information on her pregnancy and her personal risks with her. For 45 years now, women in Germany are used to carrying their Mutterpass. Societal changes have influenced the central goals of maternity care: In the beginning, the mortality of mother and child had to be reduced. Today, maternal morbidity and impaired development of the child are the center of interest, with expansion to familial satisfaction. The reduction in the mortality and morbidity of both the mother and the child during pregnancy, delivery, and postpartum can be attributed to prenatal care. Thus, investment in a program of nationwide structured prenatal care seems to be worthwhile-despite the lack of evidence concerning its effectiveness. PMID:24337130

  6. 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…

  7. 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. © 2016 Wiley Periodicals, Inc. PMID:26789280

  8. Validation of Three Early Ejaculation Diagnostic Tools: A Composite Measure Is Accurate and More Adequate for Diagnosis by Updated Diagnostic Criteria

    PubMed Central

    Jern, Patrick; Piha, Juhana; Santtila, Pekka

    2013-01-01

    Purpose To validate three early ejaculation diagnostic tools, and propose a new tool for diagnosis in line with proposed changes to diagnostic criteria. Significant changes to diagnostic criteria are expected in the near future. Available screening tools do not necessarily reflect proposed changes. Materials and Methods Data from 148 diagnosed early ejaculation patients (Mage = 42.8) and 892 controls (Mage = 33.1 years) from a population-based sample were used. Participants responded to three different questionnaires (Premature Ejaculation Profile; Premature Ejaculation Diagnostic Tool; Multiple Indicators of Premature Ejaculation). Stopwatch measured ejaculation latency times were collected from a subsample of early ejaculation patients. We used two types of responses to the questionnaires depending on the treatment status of the patients 1) responses regarding the situation before starting pharmacological treatment and 2) responses regarding current situation. Logistic regressions and Receiver Operating Characteristics were used to assess ability of both the instruments and individual items to differentiate between patients and controls. Results All instruments had very good precision (Areas under the Curve ranging from .93-.98). A new five-item instrument (named CHecklist for Early Ejaculation Symptoms – CHEES) consisting of high-performance variables selected from the three instruments had validity (Nagelkerke R2 range .51-.79 for backwards/forwards logistic regression) equal to or slightly better than any individual instrument (i.e., had slightly higher validity statistics, but these differences did not achieve statistical significance). Importantly, however, this instrument was more in line with proposed changes to diagnostic criteria. Conclusions All three screening tools had good validity. A new 5-item diagnostic tool (CHEES) based on the three instruments had equal or somewhat more favorable validity statistics compared to the other three tools, but is

  9. A Highly Sensitive Porous Silicon (P-Si)-Based Human Kallikrein 2 (hK2) Immunoassay Platform toward Accurate Diagnosis of Prostate Cancer

    PubMed Central

    Lee, Sang Wook; Hosokawa, Kazuo; Kim, Soyoun; Jeong, Ok Chan; Lilja, Hans; Laurell, Thomas; Maeda, Mizuo

    2015-01-01

    Levels of total human kallikrein 2 (hK2), a protein involved the pathology of prostate cancer (PCa), could be used as a biomarker to aid in the diagnosis of this disease. In this study, we report on a porous silicon antibody immunoassay platform for the detection of serum levels of total hK2. The surface of porous silicon has a 3-dimensional macro- and nanoporous structure, which offers a large binding capacity for capturing probe molecules. The tailored pore size of the porous silicon also allows efficient immobilization of antibodies by surface adsorption, and does not require chemical immobilization. Monoclonal hK2 capture antibody (6B7) was dispensed onto P-Si chip using a piezoelectric dispenser. In total 13 × 13 arrays (169 spots) were spotted on the chip with its single spot volume of 300 pL. For an optimization of capture antibody condition, we firstly performed an immunoassay of the P-Si microarray under a titration series of hK2 in pure buffer (PBS) at three different antibody densities (75, 100 and 145 µg/mL). The best performance of the microarray platform was seen at 100 µg/mL of the capture antibody concentration (LOD was 100 fg/mL). The platform then was subsequently evaluated for a titration series of serum-spiked hK2 samples. The developed platform utilizes only 15 µL of serum per test and the total assay time is about 3 h, including immobilization of the capture antibody. The detection limit of the hK2 assay was 100 fg/mL in PBS buffer and 1 pg/mL in serum with a dynamic range of 106 (10−4 to 102 ng/mL). PMID:26007739

  10. 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.

  11. 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 ...

  12. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

    PubMed Central

    van Schendel, Rachèl V; Kleinveld, Johanna H; Dondorp, Wybo J; Pajkrt, Eva; Timmermans, Danielle R M; Holtkamp, Kim C A; Karsten, Margreet; Vlietstra, Anne L; Lachmeijer, Augusta M A; Henneman, Lidewij

    2014-01-01

    Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherlands). Five focus groups with low-risk pregnant women (n=28), three focus groups with men (n=19) and 13 interviews with high- and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance. PMID:24642832

  13. 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

  14. Prenatally diagnosed urinary tract abnormalities: long-term outcome.

    PubMed

    Thomas, D F M

    2008-06-01

    The long-term outcomes of prenatally detected uropathies are poorly documented. Limited data on fetal intervention show a possible reduction in early mortality from pulmonary hypoplasia, but no beneficial effect on long-term prognosis for renal function. Prenatally detected vesicoureteric reflux (VUR) is characterised by males with high-grade primary reflux, who are at long-term risk of renal impairment. Prenatal diagnosis and surgical intervention have contributed to a reduction in long-term morbidity in children with pelviureteric junction (PUJ) obstruction. By the same token, many children have almost certainly undergone unnecessary early pyeloplasty for an obstruction that would have resolved spontaneously. Multicystic dysplastic kidney (MCDK) carries a low (1%) risk of hypertension in childhood. The limited evidence on the long-term outcome of mild dilatation (pelvicaliectasis) indicates this is a largely innocent finding, which carries no increased risk of morbidity. PMID:18037084

  15. Non-invasive prenatal screening for trisomy 21: Consumers' perspectives.

    PubMed

    Higuchi, Emily C; Sheldon, Jane P; Zikmund-Fisher, Brian J; Yashar, Beverly M

    2016-02-01

    Non-invasive prenatal screening (NIPS) has the potential to dramatically increase the prenatal detection rate of Down syndrome because of improvements in safety and accuracy over existing tests. There is concern that NIPS could lead to more negative attitudes towards Down syndrome and less support for individuals with Down syndrome. To assess the impact of NIPS on support for prenatal testing, decision-making about testing, and beliefs or attitudes about Down syndrome, we performed an Internet-based experiment using adults (N = 1,789) recruited through Amazon Mechanical Turk. Participants were randomly assigned to read a mock news article about NIPS, a mock news article about amniocentesis, or no article. The content in the two articles varied only in their descriptions of the test characteristics. Participants then answered questions about their support for testing, hypothetical testing decision, and beliefs and attitudes about Down syndrome. Reading the mock NIPS news article predicted increased hypothetical test uptake. In addition, the NIPS article group also agreed more strongly that pregnant women, in general, should utilize prenatal testing. We also found that the more strongly participants supported prenatal testing for pregnant women, the less favorable their attitudes towards individuals with Down syndrome; providing some evidence that NIPS may indirectly result in more negative perceptions of individuals with this diagnosis. PMID:26553705

  16. 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

  17. 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

  18. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Prenatal sonographic findings and review of the literature.

    PubMed

    Vintzileos, A M; Eisenfeld, L I; Herson, V C; Ingardia, C J; Feinstein, S J; Lodeiro, J G

    1986-10-01

    A case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a male infant followed with serial prenatal sonographic examinations is presented. Upon review of the literature, 26 cases of MMIHS have been previously reported of which only 3 were males. The prenatal sonographic diagnosis of this rare syndrome is discussed along with the clinical, pathologic findings and outcome of all reported cases. PMID:3530266

  19. Antenatal diagnosis of lethal skeletal dysplasias.

    PubMed

    Tretter, A E; Saunders, R C; Meyers, C M; Dungan, J S; Grumbach, K; Sun, C C; Campbell, A B; Wulfsberg, E A

    1998-02-17

    Lethal skeletal dysplasias (LSD) are a heterogeneous group of rare but important genetic disorders characterized by abnormal growth and development of bone and cartilage. We describe the diagnosis and outcome of 29 cases of lethal skeletal dysplasias evaluated between January 1989 and December 1996 at the University of Maryland Medical Center and the Ultrasound Institute of Baltimore. Two cases presented at delivery with no prenatal care while the remaining 27 cases were identified by antenatal sonography. Final diagnoses included thanatophoric dysplasia (14), osteogenesis imperfecta, type II (6), achondrogenesis (2), short rib syndromes (3), campomelic syndrome (2), atelosteogenesis (1), and no evidence of a skeletal dysplasia (1). Twenty out of 27 pregnancies were terminated with an average at detection of 21.6 weeks. The other 7 pregnancies that went on to deliver had an average age at detection of 29.2 weeks. Fetal abnormalities in the terminated pregnancies were identified at a significantly earlier gestational age (P = 0.0016) than the pregnancies that continued. While the identification of LSD by sonography was excellent (26/27), only 13/27 (48%) were given an accurate specific antenatal diagnosis. In 8/14 (57%) cases with an inaccurate or nonspecific diagnosis there was a significant or crucial change in the genetic counseling. Thus, while antenatal sonography is an excellent method for discovering LSD, clinical examination, radiographs, and autopsy are mandatory for making a specific diagnosis. PMID:9489797

  20. Novel, In-House, SYBR Green Based One-Step rRT-PCR: Rapid and Accurate Diagnosis of Crimean-Congo Hemorrhagic Fever Virus in Suspected Patients From Iran

    PubMed Central

    Zahraei, Bentolhoda; Hashemzadeh, Mohammad Sadegh; Najarasl, Mohammad; Zahiriyeganeh, Samaneh; Tat, Mahdi; Metanat, Maliheh; Sepehri Rad, Nahid; Khansari-nejad, Behzad; Zafari, Ehsan; Sharti, Mojtaba; Dorostkar, Ruhollah

    2016-01-01

    Background The Crimean-Congo hemorrhagic fever (CCHF) virus causes severe disease in humans, with a high mortality rate. Since, there is no approved vaccine or specific treatment for CCHF, an early and accurate diagnosis, as well as reliable surveillance, is essential for case management and patient improvement. Objectives For this research, our aim was to evaluate the application of a novel SYBR Green based one-step real-time reverse-transcriptase polymerase chain reaction (rRT-PCR) assay for the in-house diagnosis of the CCHF virus. Patients and Methods In this experimental study, the highly conserved S-region sequence of the CCHF viral genome was first adapted from GenBank, and the specific primers targeting this region were designed. Then, the viral RNA was extracted from 75 serum samples from different patients in eastern Iran. The sensitivity and specificity of the primers were also evaluated in positive serum samples previously confirmed to have the CCHF virus, by this one-step rRT-PCR assay, as well as a DNA sequencing analysis. Results From a total of 75 suspected serum samples, 42 were confirmed to be positive for CCHF virus, with no false-positives detected by the sequencing results. After 40 amplification cycles, the melting curve analysis revealed a mean melting temperature (Tm) of 86.5 ± 0.6°C (quite different from those of the primer-dimers), and the positive samples showed only a small variation in the parameters. In all of the positive samples, the predicted length of 420 bp was confirmed by electrophoresis. Moreover, the sensitivity test showed that this assay can detect less than 20 copies of viral RNA per reaction. Conclusions This study showed that this novel one-step rRT-PCR assay is a rapid, reliable, repeatable, specific, sensitive, and simple tool for the detection of the CCHF virus. PMID:27099688

  1. 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

  2. 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

  3. Causes and outcome of prenatally diagnosed hydronephrosis.

    PubMed

    Ahmadzadeh, Ali; Tahmasebi, Morteza; Gharibvand, Mohammad Momen

    2009-03-01

    Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S). Hydronephrosis may be obstructive or non-obstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the study was to evaluate the causes of renal pelvic dilatation and the outcome of postnatal treatment in infants with hydronephrosis diagnosed prenatally with U/S. We prospectively studied 67 (60 males) newborns with hydronephrosis diagnosed prenatally and confirmed postnatally with U/S from Sept. 2005 to Oct. 2007. The patients were allocated to three groups based on the mea-surement of the anteroposterior renal pelvic diameter (APRPD) in transverse plane: mild (6-9.9 mm), moderate (10-14.9 mm) and severe (> or =15 mm) hydronephrosis. Voiding cystourethrography (VCUG) was obtained in all of the patients to rule out vesicoureteral reflux (VUR). In cases with negative VUR, Diethylenetriamine-pentaacetic acid (DTPA) scan with diuretic renography was performed to detect ureteropelvic joint obstruction (UPJO). Twenty two cases (32.8%) had mild, 20 (29.9%) had moderate, and 25 (37.3%) had severe hydronephrosis. The causes of hydroneph-rosis were VUR (40.2%), UPJO (32.8%), posterior urethral valves (PUVs) (13.4 %), and transient hydronephrosis (13.4 %). The lesion was obstructive in 37 (55.2%) infants. Totally, 33 (49.2%) patients with hydronephrosis (9 mild, 9 moderate, and 15 severe) subsequently developed com-plications such as UTI and renal insufficiency, or required surgery. Associated abnormalities were observed in 15 (22.4%) patients. We conclude that every newborn with any degree of hydro-nephrosis should be assessed postnatally for specific diagnosis and treatment. PMID:19237812

  4. Beyond the Genetic Diagnosis: Providing Parents What They Want to Know.

    PubMed

    Saul, Robert A; Meredith, Stephanie Hall

    2016-07-01

    Clinicians need to provide accurate, up-to-date, and balanced information to parents following a prenatal or postnatal diagnosis of Down syndrome and other genetic conditions. Families want information about the genomic outcomes and medical issues, but they also want information about life outcomes and social supports. Because the anticipated outcomes of a condition can change significantly based on available social support, health care, and services, it is important for clinicians to stay up-to-date about new developments and credible, medically reviewed information about Down syndrome and other genetic conditions to access resources for clinical care. PMID:27368358

  5. Effects of Prenatal Alcohol Exposure and ADHD on Adaptive Functioning

    PubMed Central

    Ware, Ashley L.; Glass, Leila; Crocker, Nicole; Deweese, Benjamin N.; Coles, Claire D.; Kable, Julie A.; May, Philip A.; Kalberg, Wendy O.; Sowell, Elizabeth R.; Jones, Kenneth Lyons; Riley, Edward P.; Mattson, Sarah N.

    2014-01-01

    Background Heavy prenatal alcohol exposure and attention-deficit/hyperactivity disorder (ADHD) are associated with adaptive behavior deficits. The present study examined the interaction between these two factors on parent ratings of adaptive behavior. Methods As part of a multisite study, primary caregivers of 317 children (8–16y, M=12.38) completed the Vineland Adaptive Behavior Scales-II (VABS-II). Four groups of subjects were included: children with prenatal alcohol exposure with (AE+, n = 82) and without ADHD (AE−, n = 34), children with ADHD (ADHD, n = 71), and control children (CON, n = 130). VABS-II domain scores (Communication, Daily Living Skills, Socialization) were examined using separate 2 (Alcohol Exposure [AE]) × 2 (ADHD diagnosis) between-subjects ANCOVAs. Results There were significant main effects of AE (p < .001) and ADHD (p < .001) on all VABS-II domains; alcohol-exposed children had lower scores than children without prenatal alcohol exposure and children with ADHD had lower scores than those without ADHD. There was a significant AE × ADHD interaction effect for Communication [F (1, 308) = 7.49, p = .007, partial η2 =.024], but not Daily Living Skills or Socialization domains (ps > .27). Follow up analyses in the Communication domain indicated the effects of ADHD were stronger in comparison subjects (ADHD vs. CON) than exposed subjects (AE+ vs. AE−) and the effects of alcohol exposure were stronger in subjects without ADHD (AE− vs. CON) than in subjects with ADHD (AE+ vs. ADHD). Conclusion As found previously, both prenatal alcohol exposure and ADHD increase adaptive behavior deficits in all domains. However, these two factors interact to cause the greatest impairment in children with both prenatal alcohol exposure and ADHD for communication abilities. These results further demonstrate the deleterious effects of prenatal alcohol exposure and broadens our understanding of how ADHD exacerbates behavioral outcomes in this population

  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. PMID:25521968

  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. PMID:8070072

  8. MedlinePlus: Prenatal Testing

    MedlinePlus

    ... Reliable Is Laboratory Testing? (American Association for Clinical Chemistry) Prenatal Testing: Is It Right for You? (Mayo ... Spanish Amniotic Fluid Analysis (American Association for Clinical Chemistry) Biophysical Profile (Mayo Foundation for Medical Education and ...

  9. 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

  10. Neuroimaging of Children Following Prenatal Drug Exposure

    PubMed Central

    Derauf, Chris; Kekatpure, Minal; Neyzi, Nurunisa; Lester, Barry; Kosofsky, Barry

    2009-01-01

    Recent advances in MR-based brain imaging methods have provided unprecedented capabilities to visualize the brain. Application of these methods has allowed identification of brain structures and patterns of functional activation altered in offspring of mothers who used licit (e.g., alcohol and tobacco) and illicit (e.g., cocaine, methamphetamine, and marijuana) drugs during pregnancy. Here we review that literature, which though somewhat limited by the complexities of separating the specific effects of each drug from other confounding variables, points to sets of interconnected brain structures as being altered following prenatal exposure to drugs of abuse. In particular, dopamine-rich cortical (e.g., frontal cortex) and subcortical (e.g., basal ganglia) fetal brain structures show evidence of vulnerability to intrauterine drug exposure suggesting that during brain development drugs of abuse share a specific profile of developmental neurotoxicity. Such brain malformations may shed light on mechanisms underlying prenatal drug-induced brain injury, may serve as bio-markers of significant intrauterine drug exposure, and may additionally be predictors of subsequent neuro-developmental compromise. Wider clinical use of these research-based non-invasive methods will allow for improved diagnosis and allocation of therapeutic resources for affected infants, children, and young adults. PMID:19560049

  11. Noninvasive Prenatal Measurement of the Fetal Genome

    PubMed Central

    Fan, H. Christina; Gu, Wei; Wang, Jianbin; Blumenfeld, Yair J.; El-Sayed, Yasser Y.; Quake, Stephen R.

    2012-01-01

    The vast majority of prenatal genetic testing requires invasive sampling. Since this poses a risk to the fetus, one must make a decision that weighs the desire for genetic information against the risk of an adverse outcome due to hazards of the testing process. These issues are not required to be coupled, and it would be desirable to discover genetic information about the fetus without incurring a health risk. Here we demonstrate that it is possible to noninvasively sequence the entire prenatal genome. Our results show that molecular counting of parental haplotypes in maternal plasma by shotgun sequencing of maternal plasma DNA allows the inherited fetal genome to be deciphered noninvasively. We also applied the counting principle directly to each allele in the fetal exome by performing exome capture on maternal plasma DNA prior to shotgun sequencing. This approach enables noninvasive exome screening of clinically relevant and deleterious alleles that were paternally inherited or had arisen as de novo germline mutations, and complements the haplotype counting approach to provide a comprehensive view of the fetal genome. Noninvasive determination of the fetal genome may ultimately facilitate the diagnosis of all inherited and de novo genetic disease. PMID:22763444

  12. [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

  13. 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

  14. Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases†

    PubMed Central

    Snyder, Holly L.; de Feo, Eileen; Kruglyak, Kristina M.; Halks‐Miller, Meredith; Curnow, Kirsten J.; Bhatt, Sucheta

    2016-01-01

    Abstract Objective The primary goal of this study was to provide clinically relevant information for appropriate patient counseling. Method Demographics and test metrics were reviewed for 86 658 clinical cases. Outcome information was requested for samples reported as aneuploidy detected or suspected for chromosomes 21, 18, or 13; voluntary outcome reporting was encouraged for all discordant outcomes. Results Of 86 658 cases, 85 298 (98.4%) met inclusion criteria for result reporting. Of the 1360 (1.6%) cancellations, only 101 (0.1%) were for technical reasons. Average time to result was 3.3 business days. Aneuploidy was detected or suspected in 2142 (2.5%) samples. For aneuploidy detected cases with known clinical outcomes, the overall positive predictive value (PPV) was 83.5% (608/728); observed PPVs for trisomies 21, 18, and 13 ranged from 50.0 to 92.8%. As individual PPVs are determined by a patient's prior risk, we developed a chart for counseling patients on positive predictive value based on maternal age. Conclusion This large‐scale report reinforces that noninvasive prenatal testing is a highly accurate screen for fetal aneuploidy in the general obstetric population. Test improvements have facilitated a reduction in failure rates, time to result, and borderline results/unclassifiable results. We have developed a positive predictive value counseling tool to ensure appropriate patient education, counseling, and clinical utilization. © 2015 Illumina. Prenatal Diagnosis published by John Wiley & Sons, Ltd. PMID:26715197

  15. The clinical utility and specificity of parent report of executive function among children with prenatal alcohol exposure.

    PubMed

    Nguyen, Tanya T; Glass, Leila; Coles, Claire D; Kable, Julie A; May, Philip A; Kalberg, Wendy O; Sowell, Elizabeth R; Jones, Kenneth L; Riley, Edward P; Mattson, Sarah N

    2014-08-01

    Prenatal alcohol exposure and attention-deficit/hyperactivity disorder (ADHD) result in behavioral issues related to poor executive function (EF). This overlap may hinder clinical identification of alcohol-exposed children. This study examined the relation between parent and neuropsychological measures of EF and whether parent ratings aid in differential diagnosis. Neuropsychological measures of EF, including the Delis-Kaplan Executive Function System (D-KEFS), were administered to four groups of children (8-16 years): alcohol-exposed with ADHD (AE+, n=80), alcohol-exposed without ADHD (AE-, n=36), non-exposed with ADHD (ADHD, n=93), and controls (CON, n=167). Primary caregivers completed the Behavior Rating Inventory of Executive Function (BRIEF). For parent ratings, multivariate analyses of variance revealed main effects of Exposure and ADHD and an interaction between these factors, with significant differences between all groups on nearly all BRIEF scales. For neuropsychological measures, results indicated main effects of Exposure and ADHD, but no interaction. Discriminant function analysis indicated the BRIEF accurately classifies groups. These findings confirm compounded behavioral, but not neuropsychological, effects in the AE+ group over the other clinical groups. Parent-report was not correlated with neuropsychological performance in the clinical groups and may provide unique information about neurobehavior. Parent-report measures are clinically useful in predicting alcohol exposure regardless of ADHD. Results contribute to a neurobehavioral profile of prenatal alcohol exposure. PMID:25033032

  16. Cystic fibrosis: a look into the future of prenatal screening and therapy.

    PubMed

    Nishida, Kevin; Smith, Zachary; Rana, Dane; Palmer, Jereme; Gallicano, G Ian

    2015-03-01

    Despite recent guidelines suggesting prenatal screening for carriers of cystic fibrosis (CF) mutations, many physicians do not offer patients this service or even counseling. Some argue that the risks of miscarriage associated with prenatal diagnostic techniques outweigh the benefit of added insight, but with the advent of newer, noninvasive techniques, risks of miscarriage may be significantly lowered. Prenatal diagnosis provides parents the time to prepare for raising a child with CF, and soon, could provide treatment options in utero that could improve quality of life. Here, we describe two of the most promising gene therapy approaches: lentivirus and adenoassociated virus (AAV)-mediated gene transduction. Thus, prenatal detection and treatment is in a most crucial stage for care of patients with CF. PMID:25820246

  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. PMID:22721740

  18. Ultrasound diagnosis of structural abnormalities in the first trimester.

    PubMed

    Dugoff, Lorraine

    2002-04-01

    The advances in ultrasound technology have made it possible to identify fetal structural abnormalities and genetic syndromes in the first trimester. First trimester prenatal diagnosis of fetal central nervous system, renal, gastrointestinal, cardiac, and skeletal abnormalities is reviewed. PMID:11981912

  19. Complex Developmental Issues of Prenatal Drug Exposure.

    ERIC Educational Resources Information Center

    Kronstadt, Diana

    1991-01-01

    Reviews studies of the effects of prenatal drug exposure on child development, and reviews ideal early intervention programs. Researchers agree that prenatal drug exposure is only one of many factors that can influence a child's development. Specialized treatment programs and family support can ameliorate prenatal drug exposure effects. (SLD)

  20. Prenatal Famine and Adult Health

    PubMed Central

    Lumey, L.H.; Stein, Aryeh D.; Susser, Ezra

    2013-01-01

    We review human studies on the relation between acute exposures to prenatal famine and adult physical and mental health. These studies are observational and include exposures to a famine environment by natural or man-made causes or, more commonly, from the interplay between natural and human factors. These natural experiments provide an opportunity to examine long-term outcomes after famine exposures by comparing exposed and nonexposed individuals. The studies show consistent associations between prenatal famine and adult body size, diabetes, and schizophrenia. For other measures of adult health, findings are less robust. A relation between prenatal famine and some reported epigenetic changes may provide a potential mechanism to explain specific associations. Much progress can be made if current separate studies are further analyzed with comparable definitions of exposures and outcomes and using common analytic strategies. PMID:21219171

  1. Public viewpoints on new non-invasive prenatal genetic tests.

    PubMed

    Farrimond, Hannah R; Kelly, Susan E

    2013-08-01

    Prenatal screening programmes have been critiqued for their routine implementation according to clinical rationale without public debate. A new approach, non-invasive prenatal diagnosis (NIPD), promises diagnosis of fetal genetic disorders from a sample of maternal blood without the miscarriage risk of current invasive prenatal tests (e.g. amniocentesis). Little research has investigated the attitudes of wider publics to NIPD. This study used Q-methodology, which combines factor analysis with qualitative comments, to identify four distinct "viewpoints" amongst 71 UK men and women: 1. NIPD as a new tool in the ongoing societal discrimination against the disabled; 2. NIPD as a positive clinical application offering peace of mind in pregnancy; 3. NIPD as a medical option justified for severe disorders only; and 4. NIPD as a valid expansion of personal choice. Concerns included the "trivialisation of testing" and the implications of commercial/direct-to-consumer tests. Q-methodology has considerable potential to identify viewpoints and frame public debate about new technologies. PMID:23885055

  2. Efficacy of prenatal ultrasonography in diagnosing urogenital developmental anomalies in newborns

    PubMed Central

    2014-01-01

    Background Showing a prevalence rate of 0.5-0.8%, urogenital malformations discovered in newborns is regarded relatively common. The aim of this study is to examine the efficacy of ultrasound diagnostics in detecting developmental disorders in the urogenital system. Methods We have processed the prenatal sonographic and postnatal clinical details of 175 urogenital abnormalities in 140 newborns delivered with urogenital malformation according to EUROCAT recommendations over a 5-year period between 2006 and 2010. The patients were divided into three groups; Group 1: prenatal sonography and postnatal examinations yielded fully identical results. Group 2: postnatally detected urogenital changes were partially discovered in prenatal investigations. Group 3: prenatal sonography failed to detect the urogenital malformation identified in postnatal examinations. Urogenital changes representing part of certain multiple disorders associated with chromosomal aberration were investigated separately. Results Prenatal sonographic diagnosis and postnatal results completely coincided in 45%, i.e. 63/140 of cases in newborns delivered with urogenital developmental disorders. In 34/140 cases (24%), discovery was partial, while in 43/140 patients (31%), no urogenital malformation was detected prenatally. No associated malformations were observed in 108 cases, in 57 of which (53%), the results of prenatal ultrasonography and postnatal examinations showed complete coincidence. Prenatally, urogenital changes were found in 11 patients (10%), whereas no urogenital disorders were diagnosed in 40 cases (37%) by investigations prior to birth. Urogenital disorders were found to represent part of multiple malformations in a total of 28 cases as follows: prenatal diagnosis of urogenital malformation and the findings of postnatal examinations completely coincided in three patients (11%), partial coincidence was found in 22 newborns (79%) and in another three patients (11%), the disorder was not

  3. 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

  4. 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

  5. Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction.

    PubMed Central

    Tóth, T; Findlay, I; Papp, C; Tóth-Pál, E; Marton, T; Nagy, B; Quirke, P; Papp, Z

    1998-01-01

    Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis on amniotic fluid. This requires lengthy laboratory procedures and high costs, and is unsuitable for large scale screening of pregnant women. An alternative method, which is both rapid and inexpensive and suitable for diagnosing trisomies even from single fetal cells, is the fluorescent polymerase chain reaction using polymorphic small tandem repeats (STRs). In this paper we present the preliminary results of a larger study comparing parallel prenatal diagnoses of trisomies 21 and 18 using cytogenetics with quantitative fluorescent polymerase chain reaction using STR markers. The results obtained by the two techniques were concordant in all cases. This is the first study reporting significant numbers of prenatal diagnoses using the quantitative fluorescent polymerase chain reaction. We believe that further studies on greater numbers of samples will determine the absolute reliability of this technique. These results also provide a model for diagnosis of trisomy from single fetal cells isolated from maternal blood. PMID:9507392

  6. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.

    PubMed

    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

  7. Post- and prenatal diagnostic methods for the homocystinurias.

    PubMed

    Fowler, B; Jakobs, C

    1998-04-01

    Diagnosis of the homozygous homocystinurias can be performed by investigations at the metabolite, enzyme and DNA level. The existence of variant forms due to the wide range of genetic variation may result in only small differences in various parameters between controls and affected subjects. 1. Sulphur amino acid concentrations in plasma, especially total homocysteine, are useful in first line diagnostic investigations. 2. Cystathionine-beta-synthase (CBS), methylenetetrahydrofolate reductase (MTHFR) and methylfolate homocysteine methyltransferase (MFMT) can be directly assayed in many tissues including fibroblasts (each) and blood cells (except CBS). Indirect whole cell assays which measure pathway activity dependent on a particular enzyme can provide useful diagnostic information. 3. Direct analysis of mutations is available for CBS, MTHFR and recently also for MFMT deficiencies. However the existence of a larger number of very rare, often private, mutations limits the usefulness of this approach in routine diagnosis. The above diagnostic approaches can generally be applied to prenatal diagnosis. Measurement of methylmalonic acid and other metabolites in amniotic fluid by stable isotope dilution / gas chromatography-mass spectrometry is well established for the methylmalonic acidurias. This method has also been applied to combined homocystinuria/methylmalonic aciduria supported by enzyme assays in cultured cells. Total homocysteine measurement in cell free amniotic fluid is also possible, performed so far in 14 cases with two affected fetuses. The indirect assay of methionine formation from [14C] labelled formate in intact cultured amniotic fluid cells has been for prenatal diagnosis of the remethylation defects. PMID:9587033

  8. 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…

  9. [Non-invasive prenatal testing: challenges for future implementation].

    PubMed

    Henneman, Lidewij; Page-Chrisiaens, G C M L Lieve; Oepkes, Dick

    2015-01-01

    The non-invasive prenatal test (NIPT) is an accurate and safe test in which blood from the pregnant woman is used to investigate if the unborn child possibly has trisomy 21 (Down's syndrome), trisomy 18 (Edwards' syndrome) or trisomy 13 (Patau syndrome). Since April 2014 the NIPT has been available in the Netherlands as part of the TRIDENT implementation project for those in whom the first trimester combined test showed an elevated risk (> 1:200) of trisomy, or on medical indication, as an alternative to chorionic villous sampling or amniocentesis. Since the introduction of the NIPT the use of these invasive tests, which are associated with a risk of miscarriage, has fallen steeply. The NIPT may replace the combined test. Also the number of conditions that is tested for can be increased. Modification of current prenatal screening will require extensive discussion, but whatever the modification, careful counseling remains essential to facilitate pregnant women's autonomous reproductive decision making. PMID:26530119

  10. Prenatal drug exposure: infant and toddler outcomes.

    PubMed

    Bandstra, Emmalee S; Morrow, Connie E; Mansoor, Elana; Accornero, Veronica H

    2010-04-01

    This manuscript provides an overview of the current scientific literature on the impact of maternal drug use, specifically opioids and cocaine, during pregnancy on the acute and long-term outcomes of infants and toddlers from birth through age 3 years. Emphasis with regard to opioids is placed on heroin and opioid substitutes used to treat opioid addiction, including methadone, which has long been regarded as the standard of care in pregnancy, and buprenorphine, which is increasingly being investigated and prescribed as an alternative to methadone. Controlled studies comparing methadone at high and low doses, as well as those comparing methadone with buprenorphine, are highlighted and the diagnosis and management of neonatal abstinence syndrome is discussed. Over the past two decades, attention of the scientific and lay communities has also been focused on the potential adverse effects of cocaine and crack cocaine, especially during the height of the cocaine epidemic in the United States. Herein, the findings are summarized from prospective studies comparing cocaine-exposed with non-cocaine-exposed infants and toddlers with respect to anthropometric growth, infant neurobehavior, visual and auditory function, and cognitive, motor, and language development. The potentially stigmatizing label of the so-called "crack baby" preceded the evidence now accumulating from well-designed prospective investigations that have revealed less severe sequelae in the majority of prenatally exposed infants than originally anticipated. In contrast to opioids, which may produce neonatal abstinence syndrome and infant neurobehavioral deficits, prenatal cocaine exposure appears to be associated with what has been described as statistically significant but subtle decrements in neurobehavioral, cognitive, and language function, especially when viewed in the context of other exposures and the caregiving environment which may mediate or moderate the effects. Whether these early findings may

  11. Prenatal presentation of congenital chloride diarrhea: clinical report and review of the literature.

    PubMed

    Rose, N C; Kaplan, P; Scott, S; Kousoulis, A; Librizzi, R

    1992-01-01

    A case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe hydramnios refractory to therapy. The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in the brush border of the ileum. Antenatal presentation, prenatal diagnosis, and a review of the current literature are discussed. PMID:1418143

  12. Integration of noninvasive prenatal prediction of fetal blood group into clinical prenatal care.

    PubMed

    Clausen, Frederik Banch

    2014-05-01

    Incompatibility of red blood cell blood group antigens between a pregnant woman and her fetus can cause maternal immunization and, consequently, hemolytic disease of the fetus and newborn. Noninvasive prenatal testing of cell-free fetal DNA can be used to assess the risk of hemolytic disease of the fetus and newborn to fetuses of immunized women. Prediction of the fetal RhD type has been very successful and is now integrated into clinical practice to assist in the management of the pregnancies of RhD immunized women. In addition, noninvasive prediction of the fetal RhD type can be applied to guide targeted prenatal prophylaxis, thus avoiding unnecessary exposure to anti-D in pregnant women. The analytical aspect of noninvasive fetal RHD typing is very robust and accurate, and its routine utilization has demonstrated high sensitivities for fetal RHD detection. A high compliance with administering anti-D is essential for obtaining a clinical effect. Noninvasive fetal typing of RHC/c, RHE/e, and KEL may become more widely used in the future. PMID:24431264

  13. Prenatal Profile of Cornelia de Lange Syndrome (CdLS): A Review of 53 Pregnancies

    PubMed Central

    Clark, Dinah M.; Sherer, Ilana; Deardorff, Matthew A.; Byrne, Janice L.B.; Loomes, Kathleen M.; Nowaczyk, Malgorzata J.M.; Jackson, Laird G.; Krantz, Ian D.

    2012-01-01

    Cornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder characterized by growth retardation, cognitive impairment, external and internal structural malformations, and characteristic facial features. Currently, there are no definitive prenatal screening measures that lead to the diagnosis of CdLS. In this study, documented prenatal findings in CdLS syndrome were analyzed towards the development of a prenatal profile predictive of CdLS. We reviewed 53 cases of CdLS (29 previously reported and 24 unreported) in which prenatal observations/findings were available. The review of these cases revealed a pattern of sonographic findings, including obvious associated structural defects, growth restriction, as well as a more subtle, but strikingly characteristic, facial profile, suggestive of a recognizable prenatal ultrasonographic profile for CdLS. In addition the maternal serum marker, PAPP-A, may be reduced and fetal nuchal translucency may be increased in some pregnancies when measured at an appropriate gestational age. In conclusion, CdLS can be prenatally diagnosed or readily ruled out in a family with a known mutation in a CdLS gene. The characteristic ultrasonographic profile may allow for prenatal diagnosis of CdLS in 1) subsequent pregnancies to a couple with a prior child with CdLS in whom a mutation has not been identified or 2) when there are unexplained pregnancy signs of fetal abnormality such as oligo- or polyhydramnios, a low maternal serum PAPP-A level and/or increased nuchal translucency, fetal growth retardation, or structural anomalies consistent with CdLS. PMID:22740382

  14. 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

  15. 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

  16. 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

  17. Prenatal Smoking and Internalizing and Externalizing Problems in Children Studied from Childhood to Late Adolescence

    ERIC Educational Resources Information Center

    Ashford, Janka; Van Lier, Pol A. C.; Timmermans, Maartje; Cuijpers, Pim; Koot, Hans M.

    2008-01-01

    A study was conducted to evaluate whether prenatal smoking was only related to externalizing or both internalizing and externalizing problems in children from childhood to early adolescence. Results indicated that maternal smoking during pregnancy is an accurate predictor of internalizing and externalizing psychopathology among children.

  18. 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

  19. Reprogenetics: Preimplantational genetics diagnosis

    PubMed Central

    Coco, Roberto

    2014-01-01

    Preimplantational Genetics Diagnosis (PGD) is requested by geneticists and reproductive specialists. Usually geneticists ask for PGD because one or both members of the couple have an increased genetic risk for having an affected offspring. On the other hand, reproductive specialists ask for embryo aneuploidy screening (PGS) to assures an euploid embryo transfer, with the purpose to achieve an ongoing pregnancy, although the couple have normal karyotypes. As embryonic aneuploidies are responsible for pre and post implantation abortions, it is logical to considerer that the screening of the embryonic aneuploidies prior to embryo transfer could improve the efficiency of the in vitro fertilization procedures. Nevertheless, it is still premature to affirm this until well-designed clinical trials were done, especially in women of advanced age where the rate of embryos with aneuploidies is much greater. Although the indications of PGD are similar to conventional prenatal diagnosis (PND), PGD has less ethical objections than the PND. As with the PGD/PGS results only unaffected embryos are transferred, both methods can avoid the decision to interrupt the pregnancy due to a genetic problem; this makes an important difference when compared to conventional prenatal diagnosis. PMID:24764761

  20. The accuracy of 2D ultrasound prenatal sex determination

    PubMed Central

    Igbinedion, Blessing Ose-Emenim; Akhigbe, Theophilus Oriazo

    2012-01-01

    Background: Pregnant women have been curious about the sex of their unborn child. The advent of ultrasound, its application into medicine, and the revolutionary changes in its resolution and function has led to the ability to assign a sex to these unborn children, thereby allaying the anxiety of these women but with consequent emergent ethical, moral, psycho-social, and medico-legal issues. The objectives were to determine the accuracy of sonographic prenatal sex determination, perform binary classification test, and the impact it has, including mis-diagnosis. Materials and Methods: A prospective prenatal sonographic sex determination study on 205 consecutive consenting pregnant women aged 20-40 years in a private hospital in Benin between August 2010 and October 2011. Questionnaires were administered to these women before and after the scan and the women were told the sex of the fetuses and their feelings on the determined sex recorded. The sex at birth was confirmed and compared to the scan determined gender by their case note and telephone. Relevant discussions during the scan and later on were recorded on the questionnaires. The statistical package used was SPSS version 17 and binary classification tests were performed. Results: The sensitivity (98.2%) and binary classification components values of prenatal sex determination were high with the sensitivity of detecting a female higher than that of males. Two males were misdiagnosed as females. Most of the women were happy even when the sex differed from that which they desired. Conclusion: Prenatal sonographic sex determination has a high sensitivity index. Consequently we advocate its use prior to more invasive sex tests. PMID:23271849

  1. Perinatal Outcome in the Liveborn Infant with Prenatally Diagnosed Omphalocele

    PubMed Central

    KOMINIAREK, Michelle A.; ZORK, Noelia; PIERCE, Sara Michelle; ZOLLINGER, Terrell

    2013-01-01

    Objective To compare perinatal outcomes between liveborn non-isolated and isolated omphaloceles diagnosed during a prenatal ultrasound. Study Design Fetuses (n=86) with omphalocele were identified between 1995–2007 at a single institution. Inclusion criteria were an omphalocele >14 weeks gestation, available fetal and/or neonatal karyotype, and a liveborn infant (n=46). Perinatal outcomes were compared in non-isolated (n=23) and isolated omphaloceles (n=23). Results For all omphaloceles, the majority delivered after 34 weeks by cesarean. Mean birth weight (2782 vs. 2704g), median length of stay (27 vs. 25 days), and mortality (2 in each group) was not different between the non-isolated and isolated groups, P>0.05. In the non-isolated group, 7 major anomalies were not confirmed postnatally. Of the prenatally diagnosed isolated omphaloceles, 8(35%) were diagnosed with a syndrome or other anomalies after birth. Conclusion The outcomes were similar in non-isolated and isolated prenatally diagnosed omphaloceles, but ultrasound did not always accurately determine the presence or absence of associated anomalies. PMID:21544770

  2. APPRAISAL OF PRENATAL ANTI-TOXOPLASMA GONDII (IGG+IGM)- IHA/IGM-ELISA SCREENING IN SINGLE SAMPLES VIA IGG AVIDITY TEST.

    PubMed

    El-Bali, Mohammed; Zaglool, Dina A M; Khodari, Yousif A W; Al-Harthi, Saeed A

    2016-04-01

    Congenital toxoplasmosis is associated with important morbidity and mortality. Since vertical transmission of Toxoplasma gondii can occur in acute cases, antenatal screening for recent infections is vital. Accurate determination of acute toxoplasmosis requires a combination of immunoassays, usually not routinely applied for screening purposes. This study evaluated the anti-T. gondii (IgG+IgM)/IgM prenatal screening procedure by IgG avidity assay. The routine prenatal screening for (IgG+IgM) anti-T. gondii by indirect hemagglutination (IHA) in serum samples was done of 2247 pregnant women who attended two hospitals between 2011 and 2013 revealed 487 (21.7%) positive samples. Examination of IHA-positive sera by IgM and IgG/IgG-avidity concurrent ELISA tests revealed 7 positive and 3 border-line IgM-ELISA titers during the initial check-up of 10 women, who were then followed up at 3-4 week-intervals. Among these, 4 (40%) showed simultaneous high avidity IgG antibodies, indicating distant infection by the parasite, and no anti-T. gondii specific IgG could be detected in follow-up sera of two cases (20%), indicating false IgM initial positive results. Only 4 (40%) women showed simultaneous IgM and low avidity IgG antibodies indicating active infections. Avoidance of an over-diagnosis of acute toxoplasmosis Anti-T. gondii (IgG+IgM)/IgM prenatal screening must be supplemented by a discriminative test like IgG avidity ELISA. PMID:27363056

  3. 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

  4. 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

  5. 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

  6. 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)

  7. 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.…

  8. Medicaid reimbursement, prenatal care and infant health.

    PubMed

    Sonchak, Lyudmyla

    2015-12-01

    This paper evaluates the impact of state-level Medicaid reimbursement rates for obstetric care on prenatal care utilization across demographic groups. It also uses these rates as an instrumental variable to assess the importance of prenatal care on birth weight. The analysis is conducted using a unique dataset of Medicaid reimbursement rates and 2001-2010 Vital Statistics Natality data. Conditional on county fixed effects, the study finds a modest, but statistically significant positive relationship between Medicaid reimbursement rates and the number of prenatal visits obtained by pregnant women. Additionally, higher rates are associated with an increase in the probability of obtaining adequate care, as well as a reduction in the incidence of going without any prenatal care. However, the effect of an additional prenatal visit on birth weight is virtually zero for black disadvantaged mothers, while an additional visit yields a substantial increase in birth weight of over 20 g for white disadvantaged mothers. PMID:26355229

  9. 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

  10. 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

  11. Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues.

    PubMed

    Minear, Mollie A; Alessi, Stephanie; Allyse, Megan; Michie, Marsha; Chandrasekharan, Subhashini

    2015-01-01

    Noninvasive prenatal genetic testing (NIPT) for chromosomal aneuploidy involving the analysis of cell-free fetal DNA became commercially available in 2011. The low false-positive rate of NIPT, which reduces unnecessary prenatal invasive diagnostic procedures, has led to broad clinician and patient adoption. We discuss the ethical, legal, and social issues raised by rapid and global dissemination of NIPT. The number of women using NIPT is anticipated to expand, and the number of conditions being tested for will continue to increase as well, raising concerns about the routinization of testing and negative impacts on informed decision making. Ensuring that accurate and balanced information is available to all pregnant women and that access to NIPT is equitable will require policy guidance from regulators, professional societies, and payers. Empirical evidence about stakeholders' perspectives and experiences will continue to be essential in guiding policy development so that advances in NIPT can be used effectively and appropriately to improve prenatal care. PMID:26322648

  12. 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. PMID:24764345

  13. 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.

  14. 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

  15. 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

  16. 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

  17. Primary megaureter in the neonate with prenatal or postnatal diagnosis.

    PubMed

    Babut, J M; Frémond, B; Sameh, A; Vidal, V

    1988-06-01

    Twenty-nine cases of primary megaureter diagnosed before the age of 3 months are grouped in this diagnostic and therapeutic study. Seventy-five per cent were discovered by antenatal sonography due to the presence of pelvicalyceal dilatation without localising precisely the position of obstruction, twenty-five per cent were detected by the occurrence of early urinary tract infection. Four patients were operated during the first few months. 2 diversions and 2 reimplantations. Fifteen including the 2 with early diversion were submitted to later reimplantation at the average age of 15 months. 12 patients were treated conservatively by antibiotics and regular supervision. The respective results of the operated and non-operated patients were evaluated comparing the initial dilatation and the last IVU using the classification of Beurton. Regardless of the marked initial dilatation, significant spontaneous regression or complete resolution were often seen during the first year of follow-up. Thus surgery should be deferred initially even for the severely dilated forms, except in a few critical cases where a diversion is indicated. Reimplantation should be deferred for some months unless deterioration is noted, or performed only after one year or 18 months if regression is insufficient, thus optimising operative conditions. PMID:3046167

  18. Early Prenatal Diagnosis of Thoracopagus Twins by Ultrasound

    PubMed Central

    Alkhateeb, Mahmoud; Mashaqbeh, Mahmoud; Magableh, Sami; Hadad, Rafiq; Nseer, Quteiba; Alshboul, Abdelkhaleg

    2015-01-01

    Introduction: Conjoined twins are identical twins joined in utero. It’s a rare phenomenon and present a unique challenge to obstetricians and pediatric surgeons. Conjoined twins are complex complication of monozygotic twinning, which is associated with high perinatal mortality. Case report: At our clinic complete anomaly scan was done, the patients was found to have monozygotic twins of 15 weeks gestation and carrying a conjoint twin. Our ultrasound revealed fully developed heads facing each other, joint at the thorax and sharing a common abdomen. These twins share a single heart with two atrium and two ventricle. They decide for termination of pregnancy after taken the opinion of religious people. Termination of pregnancy was performed by many methods and we chose to use cytotec tablets which inserted vaginally and the outcome was conjoint twin with two bodies fused from the upper thorax to lower belly. Both fetuses are female and died immediately after termination of pregnancy. PMID:25870495

  19. Congenital pulmonary airway malformations: from prenatal diagnosis to postnatal outcome.

    PubMed

    Pelizzo, Gloria; Costanzo, Federico; Andreatta, Erika; Calcaterra, Valeria

    2016-08-01

    Congenital pulmonary airway malformations (CPAMs) include cystic and non-cystic lung lesions. These represent about 30-40% of developmental lung bud anomaly lesions mainly diagnosed during pregnancy or in newborn infants; or sometimes they remain undetected until adult life. The malformation usually presents as a sporadic, non-hereditary lung abnormality, with no predilection for the right or left lung, sex or race. CPAMs vary in their histological features, epidemiological and clinical presentation, severity and prognosis, supporting the embryologic hypothesis of arrested lung growth during branching morphogenesis. The existence of "hybrid" forms underline the possible common pathogenic mechanism involved in the development of different lesion types; a genetic role has also been proposed in abnormal lung development. Influence of the natural history on pre and postnatal management is relevant. Surgical resection is the standard of therapy for symptomatic CPAMs, while the management of asymptomatic cases remains controversial. The potential risk of infection and malignancy in CPAMs justifies complete surgical resection in the first year of life; while long term follow-up is required in children who do not undergo surgery. A multidisciplinary team including gynecologists, neonatologists, radiologists, pediatricians and pediatric surgeons is recommended in pre, postnatal management and in the postsurgical follow-up of all children with CPAMs. PMID:26365821

  20. Prenatal sonographic diagnosis of duplicated middle cerebral artery.

    PubMed

    Ventura, Walter; Nazario, Conny; Ingar, Jaime; Huertas, Erasmo; Limay, Antonio; Castillo, Walter

    2010-01-01

    We report a fetus scanned by color Doppler ultrasound at 37 weeks for suspicion of growth restriction with an extremely rare variation of duplicated middle cerebral artery. Three-dimensional color power Doppler and tomographic ultrasound imaging enhanced our incidental finding. PMID:20523030

  1. Prenatal cannibalism in an insect

    NASA Astrophysics Data System (ADS)

    de Vries, Thomas; Lakes-Harlan, Reinhard

    2007-06-01

    Host selection and infection strategies of parasitoids often correlate with high parental investment and low numbers of progeny. In this study, we investigate how additional internal mechanisms might shape brood size and fitness of the offspring. Emblemasoma auditrix is a parasitoid fly in which about 38 larvae hatch simultaneously in utero. After host location, a single larva is deposited into the host, where it rapidly develops and pupates after about 5 days. The search for hosts can take several weeks, and during that time, the larvae arrest their development and remain in the first larval instar. Nevertheless, the larvae increase in weight within the uterus, and this growth correlates to a decrease in the number of larvae, although no larvae are deposited. Thus, our data indicate a first case of prenatal cannibalism in an invertebrate with larvae feeding on each other within the uterus of the adult.

  2. Preimplantation genetic diagnosis and the 'new' eugenics.

    PubMed

    King, D S

    1999-04-01

    Preimplantation genetic diagnosis (PID) is often seen as an improvement upon prenatal testing. I argue that PID may exacerbate the eugenic features of prenatal testing and make possible an expanded form of free-market eugenics. The current practice of prenatal testing is eugenic in that its aim is to reduce the numbers of people with genetic disorders. Due to social pressures and eugenic attitudes held by clinical geneticists in most countries, it results in eugenic outcomes even though no state coercion is involved. I argue that technological advances may soon make PID widely accessible. Because abortion is not involved, and multiple embryos are available, PID is radically more effective as a tool of genetic selection. It will also make possible selection on the basis of non-pathological characteristics, leading, potentially, to a full-blown free-market eugenics. For these reasons, I argue that PID should be strictly regulated. PMID:10226925

  3. Improving Prenatal Care for Minority Women.

    PubMed

    Gennaro, Susan; Melnyk, Bernadette Mazurek; OʼConnor, Caitlin; Gibeau, Anne M; Nadel, Ellen

    2016-01-01

    Since the inception of prenatal care in the early 1900s, the focus of care has been on risk reduction rather than on health promotion. Prenatal care began as individualized care, but more recently group prenatal care has been shown to be very successful in improving birth outcomes. For all women, an emphasis on improving health behaviors is important at this critical time while women are engaging regularly with the healthcare system. An emphasis on mental health promotion may decrease some of the disparities in birth outcomes that are well documented between minority and majority women, as minority women are known to experience increased levels of stress, anxiety, and depression. Providing support for pregnant women and incorporating knowledge and skills through prenatal care may promote both physical and mental health in minority women. PMID:26854915

  4. Prenatal Methamphetamine Exposure Linked with Problems

    MedlinePlus

    ... Charts Emerging Trends and Alerts Alcohol Club Drugs Cocaine Hallucinogens Heroin Inhalants Marijuana MDMA (Ecstasy/Molly) Methamphetamine ... a sequence of effects following prenatal exposure to cocaine, a stimulant similar to methamphetamine. Identifying such problems ...

  5. Prenatal Care for the 80s

    PubMed Central

    Mohide, P. T.

    1981-01-01

    Despite improvements in the last decade, Canada's perinatal mortality rate is still higher than those of many other developed countries. Consumer expectations have increased not only for a good outcome, but also a more personal and humane process. The physician has to make a decision to be involved in prenatal care. Appropriate steps are suggested for initial assessment, genetic evaluation, and ongoing prenatal care. PMID:21289752

  6. Grading More Accurately

    ERIC Educational Resources Information Center

    Rom, Mark Carl

    2011-01-01

    Grades matter. College grading systems, however, are often ad hoc and prone to mistakes. This essay focuses on one factor that contributes to high-quality grading systems: grading accuracy (or "efficiency"). I proceed in several steps. First, I discuss the elements of "efficient" (i.e., accurate) grading. Next, I present analytical results…

  7. Accurate diagnosis of latent tuberculosis in children, people who are immunocompromised or at risk from immunosuppression and recent arrivals from countries with a high incidence of tuberculosis: systematic review and economic evaluation.

    PubMed Central

    Auguste, Peter; Tsertsvadze, Alexander; Pink, Joshua; Court, Rachel; Seedat, Farah; Gurung, Tara; Freeman, Karoline; Taylor-Phillips, Sian; Walker, Clare; Madan, Jason; Kandala, Ngianga-Bakwin; Clarke, Aileen; Sutcliffe, Paul

    2016-01-01

    BACKGROUND Tuberculosis (TB), caused by Mycobacterium tuberculosis (MTB) [(Zopf 1883) Lehmann and Neumann 1896], is a major cause of morbidity and mortality. Nearly one-third of the world's population is infected with MTB; TB has an annual incidence of 9 million new cases and each year causes 2 million deaths worldwide. OBJECTIVES To investigate the clinical effectiveness and cost-effectiveness of screening tests [interferon-gamma release assays (IGRAs) and tuberculin skin tests (TSTs)] in latent tuberculosis infection (LTBI) diagnosis to support National Institute for Health and Care Excellence (NICE) guideline development for three population groups: children, immunocompromised people and those who have recently arrived in the UK from high-incidence countries. All of these groups are at higher risk of progression from LTBI to active TB. DATA SOURCES Electronic databases including MEDLINE, EMBASE, The Cochrane Library and Current Controlled Trials were searched from December 2009 up to December 2014. REVIEW METHODS English-language studies evaluating the comparative effectiveness of commercially available tests used for identifying LTBI in children, immunocompromised people and recent arrivals to the UK were eligible. Interventions were IGRAs [QuantiFERON(®)-TB Gold (QFT-G), QuantiFERON(®)-TB Gold-In-Tube (QFT-GIT) (Cellestis/Qiagen, Carnegie, VA, Australia) and T-SPOT.TB (Oxford Immunotec, Abingdon, UK)]. The comparator was TST 5 mm or 10 mm alone or with an IGRA. Two independent reviewers screened all identified records and undertook a quality assessment and data synthesis. A de novo model, structured in two stages, was developed to compare the cost-effectiveness of diagnostic strategies. RESULTS In total, 6687 records were screened, of which 53 unique studies were included (a further 37 studies were identified from a previous NICE guideline). The majority of the included studies compared the strength of association for the QFT-GIT/G IGRA with the TST (5

  8. First-trimester diagnosis of Morquio disease type A.

    PubMed

    Kleijer, W J; Geilen, G C; Garritsen, V; Huijmans, J G; Los, F J; Voznyi, Y V; van Diggelen, O P

    2000-03-01

    Since the introduction in 1990 of a novel fluorogenic substrate for galactose-6-sulphate sulphatase we have used this substrate for prospective prenatal diagnosis in 10 pregnancies at risk for Morquio disease type A. Chorionic villi were analysed in five cases. The results indicated an affected fetus in one pregnancy which represents the first case of first-trimester diagnosis of this disorder; heterozygosity was demonstrated in two cases. Following amniocentesis, two affected fetuses and one heterozygote were diagnosed. The results of the present prospective prenatal analyses confirm our previous retrospective studies and demonstrate the reliability and convenience of the 4-methylumbelliferyl substrate. PMID:10719317

  9. Cystic Fibrosis Diagnosis and Newborn Screening.

    PubMed

    Rosenfeld, Margaret; Sontag, Marci K; Ren, Clement L

    2016-08-01

    The diagnosis of cystic fibrosis (CF) has evolved over the past decade as newborn screening has become universal in the United States and elsewhere. The heterogeneity of phenotypes associated with CF transmembrane conductance regulator (CFTR) dysfunction and mutations in the CFTR gene has become clearer, ranging from classic pancreatic-insufficient CF to manifestations in only 1 organ system to indeterminate diagnoses identified by newborn screening. The tools available for diagnosis have also expanded. This article reviews the newest diagnostic criteria for CF, newborn screening, prenatal screening and diagnosis, and indeterminate diagnoses in newborn-screened infants and symptomatic adults. PMID:27469178

  10. Molecular diagnosis of hereditary cystatin C amyloid angiopathy.

    PubMed

    Jonsdottir, S; Palsdottir, A

    1993-04-01

    Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disorder characterized by the deposition of amyloid in most investigated tissues. The main component of the amyloid deposits is a variant of the cysteine proteinase inhibitor cystatin C, and the most serious consequence of the disease is that amyloid deposition in the cerebral arteries leads to a massive brain hemorrhage and death before 40 years of age. HCCAA has been shown to be caused by a T-->A point mutation in the codon for leucine at position 68 in exon 2 of the cystatin C gene, which results in a leucine-->glutamine amino acid substitution in the cystatin C molecule. Since the HCCAA-causing mutation abolishes an AluI restriction site in the cystatin C gene, analysis of this AluI restriction fragment-length polymorphism (RFLP) enables simple and accurate molecular diagnosis of HCCAA. One hundred ninety-one individuals have now been screened for the HCCAA causing mutation, including a fetus for prenatal diagnosis. Thirty-six individuals belonging to nine Icelandic families have been found to have the mutation and it is highly probable that these families descend from a common ancestor. PMID:8097919

  11. Accurate monotone cubic interpolation

    NASA Technical Reports Server (NTRS)

    Huynh, Hung T.

    1991-01-01

    Monotone piecewise cubic interpolants are simple and effective. They are generally third-order accurate, except near strict local extrema where accuracy degenerates to second-order due to the monotonicity constraint. Algorithms for piecewise cubic interpolants, which preserve monotonicity as well as uniform third and fourth-order accuracy are presented. The gain of accuracy is obtained by relaxing the monotonicity constraint in a geometric framework in which the median function plays a crucial role.

  12. Accurate Finite Difference Algorithms

    NASA Technical Reports Server (NTRS)

    Goodrich, John W.

    1996-01-01

    Two families of finite difference algorithms for computational aeroacoustics are presented and compared. All of the algorithms are single step explicit methods, they have the same order of accuracy in both space and time, with examples up to eleventh order, and they have multidimensional extensions. One of the algorithm families has spectral like high resolution. Propagation with high order and high resolution algorithms can produce accurate results after O(10(exp 6)) periods of propagation with eight grid points per wavelength.

  13. [Prenatal screening: the example of Down's syndrome screening].

    PubMed

    Donner, C; Daelemans, C; Ceysens, G

    2015-09-01

    Prenatal screening for Down's syndrome initially targeted high-risk pregnant women (> 35 years old). However, the vast majority of babies with Down's syndrome are born to younger women (as the majority of babies are born in this age category). It was first discovered that some serum analytes were altered in pregnancies affected with Down's syndrome (triple test). In the nineties, the association between an increased nuchal translucency measurement and trisomy 21 was noted. The use of this measurement in combination with serum markers has enabled an increased detection rate but still at the cost of a false positive rate of around five percent (combined test). Recently, major advances in sequencing technologies have allowed reasearchers to make use of the cell free fetal DNA in maternal blood. This new test (named non invasive prenatal test) made it into clinical use as early as 2011 in some countries. Its sensitivity is above 99 % for trisomy 21 and the false positive rate is very low. It is risk-free and much more accurate than previous approaches. It is largely favored over an invasive test by high risk women (advanced maternal age or high-risk combined test). Its use is still restricted by a high cost which is for the moment still entirely beared by the patient. The availability of NIPT in our routine practice and the increased complexity of screening options have highlighted the need for a more dedicated counselling consultation before Down's syndrome screening is performed. PMID:26591302

  14. A Cost-Effectiveness Analysis of First Trimester Non-Invasive Prenatal Screening for Fetal Trisomies in the United States

    PubMed Central

    Walker, Brandon S.; Nelson, Richard E.; Jackson, Brian R.; Grenache, David G.; Ashwood, Edward R.; Schmidt, Robert L.

    2015-01-01

    Background Non-invasive prenatal testing (NIPT) is a relatively new technology for diagnosis of fetal aneuploidies. NIPT is more accurate than conventional maternal serum screening (MSS) but is also more costly. Contingent NIPT may provide a cost-effective alternative to universal NIPT screening. Contingent screening used a two-stage process in which risk is assessed by MSS in the first stage and, based on a risk cutoff, high-risk pregnancies are referred for NIPT. The objective of this study was to (1) determine the optimum MSS risk cutoff for contingent NIPT and (2) compare the cost effectiveness of optimized contingent NIPT to universal NIPT and conventional MSS. Study Design Decision-analytic model using micro-simulation and probabilistic sensitivity analysis. We evaluated cost effectiveness from three perspectives: societal, governmental, and payer. Results From a societal perspective, universal NIPT dominated both contingent NIPT and MSS. From a government and payer perspective, contingent NIPT dominated MSS. Compared to contingent NIPT, adopting a universal NIPT would cost $203,088 for each additional case detected from a government perspective and $263,922 for each additional case detected from a payer perspective. Conclusions From a societal perspective, universal NIPT is a cost-effective alternative to MSS and contingent NIPT. When viewed from narrower perspectives, contingent NIPT is less costly than universal NIPT and provides a cost-effective alternative to MSS. PMID:26133556

  15. Non-invasive prenatal testing for aneuploidy: current status and future prospects.

    PubMed

    Benn, P; Cuckle, H; Pergament, E

    2013-07-01

    Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of established screening and invasive technologies, the range of cytogenetic abnormalities detectable, cost, counseling and ethical issues. Current NIPT approaches involve whole-genome sequencing, targeted sequencing and assessment of single nucleotide polymorphism (SNP) differences between mother and fetus. Clinical trials have demonstrated the efficacy of NIPT for Down and Edwards syndromes, and possibly Patau syndrome, in high-risk women. Universal NIPT is not cost-effective, but using NIPT contingently in women found at moderate or high risk by conventional screening is cost-effective. Positive NIPT results must be confirmed using invasive techniques. Established screening, fetal ultrasound and invasive procedures with microarray testing allow the detection of a broad range of additional abnormalities not yet detectable by NIPT. NIPT approaches that take advantage of SNP information potentially allow the identification of parent of origin for imbalances, triploidy, uniparental disomy and consanguinity, and separate evaluation of dizygotic twins. Fetal fraction enrichment, improved sequencing and selected analysis of the most informative sequences should result in tests for additional chromosomal abnormalities. Providing adequate prenatal counseling poses a substantial challenge given the broad range of prenatal testing options now available. PMID:23765643

  16. Epidemiology, prenatal management, and prevention of neural tube defects

    PubMed Central

    Salih, Mustafa A.; Murshid, Waleed R.; Seidahmed, Mohammed Z.

    2014-01-01

    This review article discusses the epidemiology, risk factors, prenatal screening, diagnosis, prevention potentials, and epidemiologic impact of neural tube defects (NTDs). The average incidence of NTDs is 1/1000 births, with a marked geographic variation. In the developed countries, the incidence of NTDs has fallen over recent decades. However, it still remains high in the less-developed countries in Latin America, Africa, the Middle East, Asia, and the Far East (>1 to 11/1000 births). Recognized NTDs risks include maternal diabetes, obesity, lower socioeconomic status, hyperthermia, and exposure to certain teratogens during the periconceptional period. Periconceptional folic acid supplementation decreased the prevalence of NTDs by 50-70%, and an obligatory folic acid fortification of food was adopted in several countries to reach women with unplanned pregnancies and those facing social deprivation. Prevention of NTDs can be accelerated if more, especially low income countries, adopted fortification of the staple food in their communities. PMID:25551106

  17. Socio-demographic determinants and access to prenatal care in Italy

    PubMed Central

    2014-01-01

    Background Many governments have made commitments to examine inequalities in healthcare access based on studies assessing the association between several socio-demographic factors and late initiation or fewer prenatal examinations. This study addressed the question of whether socio-demographic determinants were significant in explaining differences in prenatal care in one administrative region of Italy, Umbria. Methods Data were obtained from the administrative source of the regional Standard Certificate of Live Births between 2005 and 2010, and were merged with Census data to include a socio-economic deprivation index. Standard and multilevel logistic regression models were used to analyze the magnitude of various individual-level maternal characteristics and socio-demographic indicators, such as nationality, employment status, education with respect to late access to the first examination, and low number of medical visits. Results The study involved approximately 37,000 women. The heterogeneous effects of socio-demographic variables were documented on the prenatal care indicators analyzed. A multivariate model showed that women born outside Italy had a higher probability of making their first visit later than the 12th week of pregnancy and low numbers of prenatal medical visits; the estimated odds ratio for the analyzed indicators range from 2.25 to 3.05. Inadequate prenatal healthcare use was also observed in younger and pluriparous women and those with low education; in addition, having a job improved the use of services, possibly through transmission of information of negative consequences due to delayed or few prenatal visits. Interestingly, this study found a substantial reduction in the number of pregnant women who do not use prenatal healthcare services properly. Conclusions The aim of this research is to provide more accurate knowledge about the inadequate use of prenatal healthcare in Italy. Results highlight the existence of differences in healthcare

  18. A tensor-based morphometry analysis of regional differences in brain volume in relation to prenatal alcohol exposure.

    PubMed

    Meintjes, E M; Narr, K L; van der Kouwe, A J W; Molteno, C D; Pirnia, T; Gutman, B; Woods, R P; Thompson, P M; Jacobson, J L; Jacobson, S W

    2014-01-01

    Reductions in brain volumes represent a neurobiological signature of fetal alcohol spectrum disorders (FASD). Less clear is how regional brain tissue reductions differ after normalizing for brain size differences linked with FASD and whether these profiles can predict the degree of prenatal exposure to alcohol. To examine associations of regional brain tissue excesses/deficits with degree of prenatal alcohol exposure and diagnosis with and without correction for overall brain volume, tensor-based morphometry (TBM) methods were applied to structural imaging data from a well-characterized, demographically homogeneous sample of children diagnosed with FASD (n = 39, 9.6-11.0 years) and controls (n = 16, 9.5-11.0 years). Degree of prenatal alcohol exposure was significantly associated with regionally pervasive brain tissue reductions in: (1) the thalamus, midbrain, and ventromedial frontal lobe, (2) the superior cerebellum and inferior occipital lobe, (3) the dorsolateral frontal cortex, and (4) the precuneus and superior parietal lobule. When overall brain size was factored out of the analysis on a subject-by-subject basis, no regions showed significant associations with alcohol exposure. FASD diagnosis was associated with a similar deformation pattern, but few of the regions survived FDR correction. In data-driven independent component analyses (ICA) regional brain tissue deformations successfully distinguished individuals based on extent of prenatal alcohol exposure and to a lesser degree, diagnosis. The greater sensitivity of the continuous measure of alcohol exposure compared with the categorical diagnosis across diverse brain regions underscores the dose dependence of these effects. The ICA results illustrate that profiles of brain tissue alterations may be a useful indicator of prenatal alcohol exposure when reliable historical data are not available and facial features are not apparent. PMID:25057467

  19. Application of proteomics for diagnosis of fetal aneuploidies and pregnancy complications.

    PubMed

    Kolialexi, Aggeliki; Anagnostopoulos, Athanasios K; Mavrou, Ariadni; Tsangaris, George Th

    2009-07-21

    Proteomic technologies represent new strategies towards high-throughput, simultaneous analysis of thousands of biological molecules leading to the discovery of biomarkers for early diagnosis, prognosis and prediction of pregnancy outcome. Proteomics have additional relevance in understanding pathophysiology and the development of molecularly targeted therapeutics. Comparison of normal human amniotic fluid proteome with that coming from pregnancies carrying fetuses with chromosomal abnormalities facilitated the detection of panels of potential biomarkers for prenatal detection of fetal aneuploidies. Candidate biomarkers for the early prediction of preeclampsis are also available, while four biomarkers (defensins-2 and -1, calgranulin-C, and calgranulin-A), which were called the "MR score", can quickly and accurately detect potentially dangerous infections and predict premature birth. Researchers remain hopeful that proteomic studies will allow for the identification of either one protein marker or of a panel of markers for prenatal detection of fetal aneuploidies and pregnancy complications that could be usefully employed for diagnostic purposes or improvement of the current screening methods. For maximum predictive power however, biomarkers should be selected for further comparative analysis of expression and structural modifications in large numbers of samples from chromosomally normal and abnormal pregnancies obtained from different populations. PMID:19332162

  20. New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

    PubMed Central

    2014-01-01

    The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF) embryos. Preimplantation genetic diagnosis (PGD) or screening (PGS) involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND) require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future. PMID:24783200

  1. Posterior Urethral Valves: Renal Failure and Prenatal Treatment

    PubMed Central

    Casella, Daniel P.; Tomaszewski, Jeffrey J.; Ost, Michael C.

    2012-01-01

    Posterior urethral valves occur in 1 : 5000 live births. Despite the high prevalence, the few children that survive do poorly, with over 50% progressing to ESRD in 10 years. The gold standard for post-natal diagnosis is voiding cystourethrography, while pre-natal diagnosis is dependent on routine screening ultrasonography. Despite the ability to identify features of bladder outlet obstruction early in fetal development, there is no consensus on how to incorporate early detection into current screening protocols. There has yet to be a marker that allows prediction of obstruction in the absence of or prior to radiographic evidence of obstruction. With our current screening strategy, the majority of interventions are performed well after irreversible damage has occurred. Improved mortality and long term morbidity from posterior urethral valves and congenital bladder outlet obstruction will likely remain unchanged until it is possible to intervene prior to the onset of irreversible renal damage. New biologic markers and improved instrumentation will allow for more effective diagnosis and intervention at earlier stages of fetal development. PMID:21860792

  2. [Diagnosis: synovial fluid analysis].

    PubMed

    Gallo Vallejo, Francisco Javier; Giner Ruiz, Vicente

    2014-01-01

    Synovial fluid analysis in rheumatological diseases allows a more accurate diagnosis in some entities, mainly infectious and microcrystalline arthritis. Examination of synovial fluid in patients with osteoarthritis is useful if a differential diagnosis will be performed with other processes and to distinguish between inflammatory and non-inflammatory forms. Joint aspiration is a diagnostic and sometimes therapeutic procedure that is available to primary care physicians. PMID:24467958

  3. Prenatal transplantation of mesenchymal stem cells to treat osteogenesis imperfecta

    PubMed Central

    Chan, Jerry K. Y.; Götherström, Cecilia

    2014-01-01

    Osteogenesis imperfecta (OI) can be a severe disorder that can be diagnosed before birth. Transplantation of mesenchymal stem cells (MSC) has the potential to improve the bone structure, growth, and fracture healing. In this review, we give an introduction to OI and MSC, and the basis for pre- and postnatal transplantation in OI. We also summarize the two patients with OI who have received pre- and postnatal transplantation of MSC. The findings suggest that prenatal transplantation of allogeneic MSC in OI is safe. The cell therapy is of likely clinical benefit with improved linear growth, mobility, and reduced fracture incidence. Unfortunately, the effect is transient. For this reason, postnatal booster infusions using same-donor MSC have been performed with clinical benefit, and without any adverse events. So far there is limited experience in this specific field and proper studies are required to accurately conclude on clinical benefits of MSC transplantation to treat OI. PMID:25346689

  4. Kasabach-Merritt phenomenon and prenatal counseling: a case series.

    PubMed

    Beissel, Anne; Riou, Stéphanie; Fischer Fumeaux, Céline Julie; Cassart, Marie; Blanc, Sébastien; Claris, Olivier; Guibaud, Laurent

    2016-07-01

    Kasabach-Merritt phenomenon can be encountered in the perinatal period. No consensus exists regarding prenatal management. We report one prenatal case leading to therapeutic abortion and one neonatal case, successfully treated by a multimodal therapy. Prenatal counseling should include the possibility of neonatal multimodal treatment that can lead to favorable outcomes. PMID:27386131

  5. Prenatal pharmacogenomics: a promising area for research.

    PubMed

    Dorfman, E H; Cheng, E Y; Hebert, M F; Thummel, K E; Burke, W

    2016-08-01

    Clinical applications of prenatal genetic screening currently focus on detection of aneuploidy and other genetic diseases in the developing fetus. Growing evidence suggests that the fetal genome may also be informative about fetal exposures through contributions to placental transport as well as placental and fetal metabolism. Possible clinical applications of prenatal pharmacogenomic screening include prospective optimization of medication selection and dosage, as well as retrospective assessment of whether a fetus was previously exposed to significant risk. Newly available noninvasive methods of prenatal genetic screening mean that relevant fetal genotypes could be made available to obstetricians for use in management of a current pregnancy. This promising area for research merits more attention than it has thus far received.The Pharmacogenomics Journal advance online publication, 10 May 2016; doi:10.1038/tpj.2016.33. PMID:27168097

  6. Women's experience of group prenatal care.

    PubMed

    Novick, Gina; Sadler, Lois S; Kennedy, Holly Powell; Cohen, Sally S; Groce, Nora E; Knafl, Kathleen A

    2011-01-01

    Group prenatal care (GPNC) is an innovative alternative to individual prenatal care. In this longitudinal study we used ethnographic methods to explore African American and Hispanic women's experiences of receiving GPNC in two urban clinics. Methods included individual, in-depth, semistructured interviews of women and group leaders in GPNC, participant observation of GPNC sessions, and medical record review. GPNC offered positive experiences and met many of women's expressed preferences regarding prenatal care. Six themes were identified, which represented separate aspects of women's experiences: investment, collaborative venture, a social gathering, relationships with boundaries, learning in the group, and changing self. Taken together, the themes conveyed the overall experience of GPNC. Women were especially enthusiastic about learning in groups, about their relationships with group leaders, and about having their pregnancy-related changes and fears normalized; however, there were also important boundaries on relationships between participants, and some women wished for greater privacy during physical examinations. PMID:20693516

  7. Accurate measurement of time

    NASA Astrophysics Data System (ADS)

    Itano, Wayne M.; Ramsey, Norman F.

    1993-07-01

    The paper discusses current methods for accurate measurements of time by conventional atomic clocks, with particular attention given to the principles of operation of atomic-beam frequency standards, atomic hydrogen masers, and atomic fountain and to the potential use of strings of trapped mercury ions as a time device more stable than conventional atomic clocks. The areas of application of the ultraprecise and ultrastable time-measuring devices that tax the capacity of modern atomic clocks include radio astronomy and tests of relativity. The paper also discusses practical applications of ultraprecise clocks, such as navigation of space vehicles and pinpointing the exact position of ships and other objects on earth using the GPS.

  8. Accurate quantum chemical calculations

    NASA Technical Reports Server (NTRS)

    Bauschlicher, Charles W., Jr.; Langhoff, Stephen R.; Taylor, Peter R.

    1989-01-01

    An important goal of quantum chemical calculations is to provide an understanding of chemical bonding and molecular electronic structure. A second goal, the prediction of energy differences to chemical accuracy, has been much harder to attain. First, the computational resources required to achieve such accuracy are very large, and second, it is not straightforward to demonstrate that an apparently accurate result, in terms of agreement with experiment, does not result from a cancellation of errors. Recent advances in electronic structure methodology, coupled with the power of vector supercomputers, have made it possible to solve a number of electronic structure problems exactly using the full configuration interaction (FCI) method within a subspace of the complete Hilbert space. These exact results can be used to benchmark approximate techniques that are applicable to a wider range of chemical and physical problems. The methodology of many-electron quantum chemistry is reviewed. Methods are considered in detail for performing FCI calculations. The application of FCI methods to several three-electron problems in molecular physics are discussed. A number of benchmark applications of FCI wave functions are described. Atomic basis sets and the development of improved methods for handling very large basis sets are discussed: these are then applied to a number of chemical and spectroscopic problems; to transition metals; and to problems involving potential energy surfaces. Although the experiences described give considerable grounds for optimism about the general ability to perform accurate calculations, there are several problems that have proved less tractable, at least with current computer resources, and these and possible solutions are discussed.

  9. Prenatal chromosomal microarray for the Catholic physician

    PubMed Central

    Bringman, Jay J.

    2014-01-01

    Prenatal chromosomal microarray (CMA) is a test that is used to diagnose certain genetic problems in the fetus. While the test has been used in the pediatric setting for several years, it is now being introduced for use in the prenatal setting. The test offers great hope for detection of certain genetic defects in the fetus so that early intervention can be performed to improve the outcome for that individual. As with many biotechnical advances, CMA comes with certain bioethical issues that need to be addressed prior to its implementation. This paper is intended to provide guidance to all those that provide counseling regarding genetic testing options during pregnancy. PMID:24899750

  10. Hydronephrosis: prenatal and postnatal evaluation and management.

    PubMed

    Liu, Dennis B; Armstrong, William R; Maizels, Max

    2014-09-01

    Antenatal hydronephrosis (ANH) is one of the most frequently detected abnormalities found on routine prenatal ultrasounds, affecting 1% to 4.5% of all pregnancies. Despite its prevalence, there continues to be uncertainty regarding the clinical impact after birth. Prognosis depends on the severity of the dilation. Expectant prenatal management is the rule with fetal intervention rarely needed in a few select cases. Ureteropelvic junction obstruction and vesicoureteral reflux are the most common postnatal diagnoses. A renal and bladder ultrasound is essential in the follow-up of patients with ANH and helps dictate further investigation with voiding cystourethrography and/or diuretic renography. PMID:25155734

  11. Neonatal alloimmune thrombocytopenia: pathogenesis, diagnosis and management

    PubMed Central

    Peterson, Julie A.; McFarland, Janice G.; Curtis, Brian R.; Aster, Richard H.

    2014-01-01

    Summary Neonatal alloimmune thrombocytopenia, (NAIT) is caused by maternal antibodies raised against alloantigens carried on fetal platelets. Although many cases are mild, NAIT is a significant cause of morbidity and mortality in newborns and is the most common cause of intracranial haemorrhage in full-term infants. In this report, we review the pathogenesis, clinical presentation, laboratory diagnosis and prenatal and post-natal management of NAIT and highlight areas of controversy that deserve the attention of clinical and laboratory investigators. PMID:23384054

  12. Children with Heavy Prenatal Alcohol Exposure Experience Reduced Control of Isotonic Force

    PubMed Central

    Nguyen, Tanya T.; Levy, Susan S.; Riley, Edward P.; Thomas, Jennifer D.; Simmons, Roger W.

    2013-01-01

    Background Heavy prenatal alcohol exposure can result in diverse and extensive damage to the central nervous system, including the cerebellum, basal ganglia, and cerebral cortex. Given that these brain regions are involved in the generation and maintenance of motor force, we predicted that prenatal alcohol exposure would adversely affect this parameter of motor control. We previously reported that children with gestational alcohol exposure experience significant deficits in regulating isometric (i.e., constant) force. The purpose of the present study was to determine if these children exhibit similar deficits when producing isotonic (i.e., graded) force. Methods Children with heavy prenatal alcohol exposure and typically developing children completed a series of isotonic force contractions by exerting force on a load cell to match a criterion target force displayed on a computer monitor. Two levels of target force (5% or 20% of maximum voluntary force) were investigated in combination with varying levels of visual feedback. Results Compared to controls, children with heavy prenatal alcohol exposure generated isotonic force signals that were less accurate, more variable, and less complex in the time domain compared to control children. Specifically, interactions were found between group and visual feedback for response accuracy and signal complexity, suggesting that these children have greater difficulty altering their motor output when visual feedback is low. Conclusions These data suggest that prenatal alcohol exposure produces deficits in regulating isotonic force, which presumably result from alcohol-related damage to developing brain regions involved in motor control. These children will most likely experience difficulty performing basic motor skills and daily functional skills that require coordination of finely graded force. Therapeutic strategies designed to increase feedback and, consequently, facilitate visual-motor integration could improve isotonic force

  13. Prenatally diagnosed de novo complex chromosome rearrangements: Two new cases and review of the literature

    SciTech Connect

    Ruiz, C.; Grubs, R.E.; Jewett, T.

    1994-09-01

    Complex chromosome rearrangements (CCR) are rare structural rearrangements involving at least three chromosomes with three or more breakpoints. Although there have been numerous reports of individuals with CCR, most have been ascertained through the presence of multiple congenital anomalies, recurrent pregnancy loss, or infertility. Few cases have been ascertained prenatally. We present two new cases of prenatally ascertained CCR. In the first case, an amniocentesis revealed an apparently balanced de novo rearrangement in which chromosomes 5, 6 and 11 were involved in a three-way translocation: 46,XY,t(6;5)(5;11)(q23;p14.3;q15;p13). The pregnancy was unevenful. Recently, at the age of 9 months, a physical and developmental evaluation were normal but, height, weight, and head circumference were below the 5th percentile. In the second case an amniocentesis revealed an unbalanced de novo rearrangement involving separate translocations and an interstitial deletion: 46,XY,del(6)(q25.3q27),t(3;8)(p13;q21.3),t(6;18)(p11.2;q11.2). A meconium plug was present at birth and at 6 months of age surgery for Hirschsprung`s disease was required. Currently, at 10 months of age, the patient has hypotonia and developmental delay. The paucity of information regarding prenatally diagnosed CCR poses a problem in counseling families. Of the four prenatally diagnosed balanced de novo CCR cases, three had abnormal outcomes. In a review of the literature, approximately 70% of the postnatally ascertained balanced de novo CCR cases were associated with congenital anomalies, growth retardation and/or mental retardation. More information regarding the outcome of prenatally ascertained balanced de novo CCR is required for accurate risk assessment.

  14. In Utero Diagnosis of Long QT Syndrome by Magnetocardiography

    PubMed Central

    Cuneo, Bettina F.; Strasburger, Janette F.; Yu, Suhong; Horigome, Hitoshi; Hosono, Takayoshi; Kandori, Akihiko; Wakai, Ronald T.

    2013-01-01

    Background The electrophysiology of long QT syndrome (LQTS) in utero is virtually unstudied. Our goal here was to evaluate the efficacy of fetal magnetocardiography (fMCG) for diagnosis and prognosis of fetuses at risk of LQTS. Methods and Results We reviewed the pre/postnatal medical records of 30 fetuses referred for fMCG due to a family history of LQTS (n=17); neonatal/childhood sudden cardiac death (n=3) and/or presentation of prenatal LQTS rhythms (n=12): 2° AVB, ventricular tachycardia, heart rate < 3rd percentile. We evaluated heart rate and reactivity, cardiac time intervals, T-wave characteristics, and initiation/termination of Torsade de Pointes (TdP), and compared these with neonatal ECG findings. After birth, subjects were tested for LQTS mutations. Based on accepted clinical criteria, 21 subjects (70%; 9 KCNQ1, 5 KCNH2, 2 SCN5A, 2 other, 3 untested) had LQTS. Using a threshold of QTc= 490 ms, fMCG accurately identified LQTS fetuses with 89% (24/27) sensitivity and 89% (8/9) specificity in 36 sessions. Four fetuses (2 KCNH2 and 2 SCN5A), all with QTc ≥ 620 ms, had frequent episodes of TdP, which were present 22–79% of the time. While some episodes initiated with a long-short sequence, most initiations showed QRS aberrancy and a notable lack of pause dependency. T-wave alternans was strongly associated with severe LQTS phenotype. Conclusions QTc prolongation (≥490 ms) assessed by fMCG accurately identified LQTS in utero; extreme QTc prolongation (≥620 ms) predicted TdP. FMCG can play a critical role in the diagnosis and management of fetuses at risk of LQTS. PMID:24218437

  15. Prenatal Cocaine Exposure and Infant Cortisol Reactivity

    ERIC Educational Resources Information Center

    Eiden, Rina D.; Veira, Yvette; Granger, Douglas A.

    2009-01-01

    This study examined the effects of prenatal cocaine exposure on infant hypothalamic-pituitary-adrenal axis activity and reactivity at 7 months of infant age. Participants were 168 caregiver-infant dyads (87 cocaine exposed, 81 not cocaine exposed; 47% boys). Maternal behavior, caregiving instability, and infant growth and behavior were assessed,…

  16. Ethical Considerations in Prenatal Sex Selection

    ERIC Educational Resources Information Center

    Hollingsworth, Leslie Doty

    2005-01-01

    Developments in assisted reproductive technologies have made it possible for couples to select the sex of a child prenatally. This article used the NASW Code of Ethics and information from the Ethics Committee of the American Society of Reproductive Medicine to consider ethical dilemmas related to social justice (for example, reinforcement of…

  17. Prenatal care in your first trimester

    MedlinePlus

    ... first visit, your doctor or midwife will draw blood for a group of tests known as the prenatal panel. These tests are done to find problems or infections early in the pregnancy. ... blood count (CBC) Blood typing (including Rh screen) Rubella ...

  18. Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma

    PubMed Central

    Yu, Stephanie C. Y.; Jiang, Peiyong; Choy, Kwong W.; Chan, Kwan Chee Allen; Won, Hye-Sung; Leung, Wing C.; Lau, Elizabeth T.; Tang, Mary H. Y.; Leung, Tak Y.; Lo, Yuk Ming Dennis; Chiu, Rossa W. K.

    2013-01-01

    Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either polymorphism-dependent or used statistical analyses which were confined to one or a small number of selected parts of the genome. In this report, we reported a procedure for performing noninvasive prenatal karyotyping at 3 Mb resolution across the whole genome through the massively parallel sequencing of maternal plasma DNA. This method has been used to analyze the plasma obtained from 6 cases. In three cases, fetal microdeletions have been detected successfully from maternal plasma. In two cases, fetal microduplications have been detected successfully from maternal plasma. In the remaining case, the plasma DNA sequencing result was consistent with the pregnant mother being a carrier of a microduplication. Simulation analyses were performed for determining the number of plasma DNA molecules that would need to be sequenced and aligned for enhancing the diagnostic resolution of noninvasive prenatal karyotyping to 2 Mb and 1 Mb. In conclusion, noninvasive prenatal molecular karyotyping from maternal plasma by massively parallel sequencing is feasible and would enhance the diagnostic spectrum of noninvasive prenatal testing. PMID:23613765

  19. Psychiatric Conditions Associated with Prenatal Alcohol Exposure

    ERIC Educational Resources Information Center

    O'Connor, Mary J.; Paley, Blair

    2009-01-01

    Since the identification of fetal alcohol syndrome (FAS) over 35 years ago, mounting evidence about the impact of maternal alcohol consumption during pregnancy has prompted increased attention to the link between prenatal alcohol exposure (PAE) and a constellation of developmental disabilities that are characterized by physical, cognitive, and…

  20. Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene.

    PubMed

    Rabbani, Bahareh; Mahdieh, Nejat; Haghi Ashtiani, Mohammad-Taghi; Akbari, Mohammad-Taghi; Rabbani, Ali

    2011-06-01

    Congenital adrenal hyperplasia (CAH) is characterized by impaired biosynthesis of cortisol. 21-hydroxylase deficiency is the most common cause of CAH affecting 1 in 10000-15000 live births over the world. The frequency of the disorder is very high in Iran due to frequent consanguineous marriages. Although biochemical tests are used to confirm the clinical diagnosis, molecular methods could help to define accurate diagnosis of the genetic defect. Recent molecular approaches such as polymerase chain reaction based methods could be used to detect carriers and identify different genotypes of the affected individuals in Iran which may cause variable degrees of clinical expression of the condition. Molecular tests are also applied for prenatal diagnosis, and genetic counseling of the affected families. Here, we are willing to delineate mechanisms underlying the disease, genetic causes of CAH, genetic approaches being used in the country and recommendations for health care improvement on the basis of the molecular and clinical genetics to control and diminish such a high prevalent disorder in Iran. Also, the previous studies on CAH in Iran are gathered and a diagnostic algorithm for the genetic causes is proposed. PMID:23056780

  1. [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

  2. Fetal urinoma and prenatal hydronephrosis: how is renal function affected?

    PubMed Central

    Oktar, Tayfun; Salabaş, Emre; Kalelioğlu, İbrahim; Atar, Arda; Ander, Haluk; Ziylan, Orhan; Has, Recep; Yüksel, Atıl

    2013-01-01

    Objective: In our study, the functional prognosis of kidneys with prenatal urinomas were investigated. Material and methods: Between 2006 and 2010, fetal urinomas were detected in 19 fetuses using prenatal ultrasonography (US), and the medical records were reviewed retrospectively. Of the 19 cases, the follow-up data were available for 10 fetuses. The gestational age at diagnosis, prognosis of urinomas, clinical course and renal functions were recorded. Postnatal renal functions were assessed with renal scintigraphy. Results: Unilateral urinomas and increased parenchyma echogenicity in the ipsilateral kidney were detected in all of the fetuses. Of the 10 fetuses with follow-up data, the option of termination was offered in 6 cases of anhydramnios, including 3 cases with signs of infravesical obstruction (a possible posterior urethral valve (PUV) and poor prognostic factors and 3 cases with unilateral hydronephrosis and increased echogenicity in the contralateral kidney. Only one family agreed the termination. The other 5 fetuses died during the early postnatal period. The average postnatal follow-up period in the 4 surviving fetuses was 22.5 months (8–38 months). One patient with a PUV underwent ablation surgery during the early postnatal period. In the postnatal period, none of the 4 kidneys that were ipsilateral to the urinoma were functional on scintigraphic evaluation. The urinomas disappeared in 3 cases. Nephrectomy was performed in one case due to recurrent urinary tract infections. Conclusion: In our study, no function was detected in the ipsilateral kidney of surviving patients with urinomas. Upper urinary tract dilatation accompanied by a urinoma is a poor prognostic factor for renal function. PMID:26328088

  3. Prenatal depression effects and interventions: a review.

    PubMed

    Field, Tiffany; Diego, Miguel; Hernandez-Reif, Maria

    2010-12-01

    This review covers research on the negative effects of prenatal depression and cortisol on fetal growth, prematurity and low birthweight. Although prenatal depression and cortisol were typically measured at around 20 weeks gestation, other research suggests the stability of depression and cortisol levels across pregnancy. Women with Dysthymia as compared to Major Depression Disorder had higher cortisol levels, and their newborns had lower gestational age and birthweight. The cortisol effects in these studies were unfortunately confounded by low serotonin and low dopamine levels which in themselves could contribute to non-optimal pregnancy outcomes. The negative effects of depression and cortisol were also potentially confounded by comorbid anxiety, by demographic factors including younger age, less education and lower SES of the mothers and by the absence of a partner or a partner who was unhappy about the pregnancy or a partner who was depressed. Substance use (especially caffeine use) was still another risk factor. All of these problems including prenatal depression, elevated cortisol, prematurity and low birthweight and even postpartum depression have been reduced by prenatal massage therapy provided by the women's partners. Massage therapy combined with group interpersonal psychotherapy was also effective for reducing depression and cortisol levels. Several limitations of these studies were noted and suggestions for future research included exploring other predictor variables like progesterone/estriol ratios, immune factors and genetic determinants. Further research is needed both on the potential use of cortisol as a screening measure and the use of other therapies that might reduce prenatal depression and cortisol in the women and prematurity and low birthweight in their infants. PMID:20471091

  4. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

    PubMed Central

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij; Howard, Heidi C; Lucassen, Anneke; Ormond, Kelly; Peterlin, Borut; Radojkovic, Dragica; Rogowski, Wolf; Soller, Maria; Tibben, Aad; Tranebjærg, Lisbeth; van El, Carla G; Cornel, Martina C

    2015-01-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non

  5. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

    PubMed

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij; Howard, Heidi C; Lucassen, Anneke; Ormond, Kelly; Peterlin, Borut; Radojkovic, Dragica; Rogowski, Wolf; Soller, Maria; Tibben, Aad; Tranebjærg, Lisbeth; van El, Carla G; Cornel, Martina C

    2015-11-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non

  6. Molecular diagnosis of chronic granulomatous disease

    PubMed Central

    Roos, D; Boer, M

    2014-01-01

    Patients with chronic granulomatous disease (CGD) suffer from recurrent, life-threatening bacterial and fungal infections of the skin, the airways, the lymph nodes, liver, brain and bones. Frequently found pathogens are Staphylococcus aureus, Aspergillus species, Klebsiella species, Burkholderia cepacia and Salmonella species. CGD is a rare (∼1:250 000 births) disease caused by mutations in any one of the five components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes. Molecular diagnosis of CGD involves measuring NADPH oxidase activity in phagocytes, measuring protein expression of NADPH oxidase components and mutation analysis of genes encoding these components. Residual oxidase activity is important to know for estimation of the clinical course and the chance of survival of the patient. Mutation analysis is mandatory for genetic counselling and prenatal diagnosis. This review summarizes the different assays available for the diagnosis of CGD, the precautions to be taken for correct measurements, the flow diagram to be followed, the assays for confirmation of the diagnosis and the determinations for carrier detection and prenatal diagnosis. PMID:24016250

  7. Molecular diagnosis of chronic granulomatous disease.

    PubMed

    Roos, D; de Boer, M

    2014-02-01

    Patients with chronic granulomatous disease (CGD) suffer from recurrent, life-threatening bacterial and fungal infections of the skin, the airways, the lymph nodes, liver, brain and bones. Frequently found pathogens are Staphylococcus aureus, Aspergillus species, Klebsiella species, Burkholderia cepacia and Salmonella species. CGD is a rare (∼1:250 000 births) disease caused by mutations in any one of the five components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes. Molecular diagnosis of CGD involves measuring NADPH oxidase activity in phagocytes, measuring protein expression of NADPH oxidase components and mutation analysis of genes encoding these components. Residual oxidase activity is important to know for estimation of the clinical course and the chance of survival of the patient. Mutation analysis is mandatory for genetic counselling and prenatal diagnosis. This review summarizes the different assays available for the diagnosis of CGD, the precautions to be taken for correct measurements, the flow diagram to be followed, the assays for confirmation of the diagnosis and the determinations for carrier detection and prenatal diagnosis. PMID:24016250

  8. Noninvasive prenatal testing creates an opportunity for antenatal treatment of Down syndrome.

    PubMed

    Guedj, Faycal; Bianchi, Diana W

    2013-06-01

    Trisomy 21 (T21) is the most common autosomal aneuploidy that is associated with intellectual disability. It is the focus of many prenatal screening programs across the globe. Pregnant women who receive a prenatal diagnosis of T21 in their fetus currently have the option of continuing or terminating their pregnancy, but no fetal treatment is available. In this paper, we review compelling morphogenetic, cellular, and molecular studies that, taken together, suggest that there is an important window of opportunity during fetal life to positively impact brain development to improve postnatal neurocognition and behavior. Although substantial progress has been made in understanding the basic neurobiology of Down syndrome (DS), the majority of pre-clinical trials is currently focused on adults. There are a number of challenges in the identification and development of novel antenatal therapies for DS, including the lack of toxicity and teratogenicity for the pregnant woman and the fetus, evidence that the compounds can cross the placenta and achieve therapeutic levels, and the demonstration of clinical improvement. Preliminary experiments in mouse models suggest that prenatal treatment of DS is an achievable goal. PMID:23595836

  9. Teaching prenatal ultrasound to family medicine residents.

    PubMed

    Dresang, Lee T; Rodney, William MacMillan; Dees, Jason

    2004-02-01

    Prenatal ultrasound is a powerful diagnostic tool, but there has been little research on how to teach ultrasound to family physicians. The available evidence supports teaching through didactics followed by supervised scanning. Didactic topics include physics and machine usage, indications, fetal biometry, anatomic survey, practice management, ethical issues, and resources. Supervised scanning reinforces the didactic components of training. A "hand-on-hand" supervised scanning technique is recommended for the transmission of psychomotor skills in these sessions. Curricula for teaching ultrasound should include information on which residents will be taught prenatal ultrasound, who will teach them, how to create time for learning ultrasound skills, and how to test for competency. The literature suggests that competency can be achieved within 25-50 supervised scans. Measures of competency include examination and qualitative analysis of scanning. Competency-based testing needs further development because no uniform standards have been established. PMID:14872356

  10. Prenatal programming of neuroendocrine reproductive function.

    PubMed

    Evans, Neil P; Bellingham, Michelle; Robinson, Jane E

    2016-07-01

    It is now well recognized that the gestational environment can have long-lasting effects not only on the life span and health span of an individual but also, through potential epigenetic changes, on future generations. This article reviews the "prenatal programming" of the neuroendocrine systems that regulate reproduction, with a specific focus on the lessons learned using ovine models. The review examines the critical roles played by steroids in normal reproductive development before considering the effects of prenatal exposure to exogenous steroid hormones including androgens and estrogens, the effects of maternal nutrition and stress during gestation, and the effects of exogenous chemicals such as alcohol and environment chemicals. In so doing, it becomes evident that, to maximize fitness, the regulation of reproduction has evolved to be responsive to many different internal and external cues and that the GnRH neurosecretory system expresses a degree of plasticity throughout life. During fetal life, however, the system is particularly sensitive to change and at this time, the GnRH neurosecretory system can be "shaped" both to achieve normal sexually differentiated function but also in ways that may adversely affect or even prevent "normal function". The exact mechanisms through which these programmed changes are brought about remain largely uncharacterized but are likely to differ depending on the factor, the timing of exposure to that factor, and the species. It would appear, however, that some afferent systems to the GnRH neurons such as kisspeptin, may be critical in this regard as it would appear to be sensitive to a wide variety of factors that can program reproductive function. Finally, it has been noted that the prenatal programming of neuroendocrine reproductive function can be associated with epigenetic changes, which would suggest that in addition to direct effects on the exposed offspring, prenatal programming could have transgenerational effects on

  11. Cerebral ultrasound images in prenatal cytomegalovirus infection.

    PubMed

    Tomà, P; Magnano, G M; Mezzano, P; Lazzini, F; Bonacci, W; Serra, G

    1989-01-01

    A male newborn with prenatal cytomegalovirus infection was referred for cranial ultrasound. The cranial ultrasound demonstrated areas of increased echogenicity in the thalamic and gray nuclei resembling "a branched candlestick". Doppler technique located the "branched candlestick" along the thalamostriate arteries. This image is particularly interesting because to our knowledge it has never before been described in congenital cytomegalovirus infection, but only in congenital rubella. PMID:2550848

  12. Urinary biomarkers in prenatally diagnosed unilateral hydronephrosis.

    PubMed

    Madsen, Mia Gebauer; Nørregaard, Rikke; Frøkiær, Jørgen; Jørgensen, Troels Munch

    2011-04-01

    The introduction of prenatal ultrasonography as a screening method entails an increasing number of infants diagnosed with prenatal hydronephrosis. Ureteropelvic junction obstruction accounts for 35% of prenatal hydronephrotic cases. Urinary tract obstruction that occurs during early kidney development affects renal morphogenesis, maturation and growth, and in the most severe cases this will ultimately cause renal insufficiency. A major challenge in the clinical management of these patients is to preserve renal function by selection of the 15%-20% who require early surgical intervention, leaving those for whom watchful waiting may be appropriate because of spontaneous resolution/stabilization without significant loss of renal function. Today, this requires medical surveillance, including repetitive invasive diuretic renograms relying on arbitrary threshold values, and therefore there is a need for non-arbitrary, non-invasive urinary biomarkers that may be used as predictors for renal structural changes and/or decreasing renal function, and thereby provide the surgeon with more clear indications for surgical intervention. In this review, we summarize the currently well-known facts about urinary biomarkers in ureteropelvic junction obstruction concerning renal function, and we also suggest potential novel urinary biomarkers. PMID:21220211

  13. In defense of prenatal genetic interventions.

    PubMed

    Murphy, Timothy F

    2014-09-01

    Jürgen Habermas has argued against prenatal genetic interventions used to influence traits on the grounds that only biogenetic contingency in the conception of children preserves the conditions that make the presumption of moral equality possible. This argument fails for a number of reasons. The contingency that Habermas points to as the condition of moral equality is an artifact of evolutionary contingency and not inviolable in itself. Moreover, as a precedent for genetic interventions, parents and society already affect children's traits, which is to say there is moral precedent for influencing the traits of descendants. A veil-of-ignorance methodology can also be used to justify prenatal interventions through its method of advance consent and its preservation of the contingency of human identities in a moral sense. In any case, the selection of children's traits does not undermine the prospects of authoring a life since their future remains just as contingent morally as if no trait had been selected. Ironically, the prospect of preserving human beings as they are--to counteract genetic drift--might even require interventions to preserve the ability to author a life in a moral sense. In light of these analyses, Habermas' concerns about prenatal genetic interventions cannot succeed as objections to their practice as a matter of principle; the merits of these interventions must be evaluated individually. PMID:23025348

  14. The Epigenetic Effects of Prenatal Cadmium Exposure.

    PubMed

    Vilahur, Nadia; Vahter, Marie; Broberg, Karin

    2015-06-01

    Prenatal exposure to the highly toxic and common pollutant cadmium has been associated with adverse effects on child health and development. However, the underlying biological mechanisms of cadmium toxicity remain partially unsolved. Epigenetic disruption due to early cadmium exposure has gained attention as a plausible mode of action, since epigenetic signatures respond to environmental stimuli and the fetus undergoes drastic epigenomic rearrangements during embryogenesis. In the current review, we provide a critical examination of the literature addressing prenatal cadmium exposure and epigenetic effects in human, animal, and in vitro studies. We conducted a PubMed search and obtained eight recent studies addressing this topic, focusing almost exclusively on DNA methylation. These studies provide evidence that cadmium alters epigenetic signatures in the DNA of the placenta and of the newborns, and some studies indicated marked sexual differences for cadmium-related DNA methylation changes. Associations between early cadmium exposure and DNA methylation might reflect interference with de novo DNA methyltransferases. More studies, especially those including environmentally relevant doses, are needed to confirm the toxicoepigenomic effects of prenatal cadmium exposure and how that relates to the observed health effects of cadmium in childhood and later life. PMID:25960943

  15. Personality disorder diagnosis

    PubMed Central

    WIDIGER, THOMAS A

    2003-01-01

    Every person has a characteristic manner of thinking, feeling, and relating to others. Some of these personality traits can be so dysfunctional as to warrant a diagnosis of personality disorder. The World Health Organization's International Classification of Diseases (ICD- 10) includes ten personality disorder diagnoses. Three issues of particular importance for the diagnosis of personality disorders are their differentiation from other mental disorders, from general personality functioning, and from each other. Each of these issues is discussed in turn, and it is suggested that personality disorders are more accurately and effectively diagnosed as maladaptive variants of common personality traits. PMID:16946918

  16. Prenatally detected ureteropelvic junction obstruction: clinical features and associated urologic abnormalities.

    PubMed

    Karnak, Ibrahim; Woo, Lynn L; Shah, Shetal N; Sirajuddin, Arlene; Kay, Robert; Ross, Jonathan H

    2008-04-01

    Urologic congenital anomalies associated with ureteropelvic obstruction (UPJO) have been previously characterized; however, less data are available regarding these associations in a prenatally diagnosed population. A retrospective study was conducted to evaluate significant clinical features and urological anomalies associated with prenatally diagnosed UPJO. The records of 143 children with prenatally diagnosed hydronephrosis secondary to UPJO were retrospectively reviewed. The gender, side of obstruction, degree of hydronephrosis, associated clinical features, and urological anomalies were noted. Hundred and forty-three children (M/F = 2.7) with a total of 198 affected renal units (RU) presenting with unilateral (61%) or bilateral (39%) UPJO were enrolled. In cases of unilateral obstruction, the left side was affected in 60 children (68%). The grade of hydronephrosis was Grade 1 in 56 RU (28%), Grade 2 in 51 RU (26%), Grade 3 in 50 RU (25%) and Grade 4 in 41 RU (21%). Associated clinical features included prematurity (n = 7, 4.9%), twinning (n = 5, 3.5%) and presentation with renal failure (RF) (n = 2). Excluding contralateral UPJO, other urologic anomalies were encountered in 29 patients (20.3%). Associated vesicoureteral reflux (VUR) was encountered in 11 patients (7.7%, M/F = 2.7). Pyeloplasty was required more often in children with associated VUR (54.5 vs. 18.2%) (P = 0.01). Contralateral multicystic dysplastic kidney (MCDK) was encountered in six patients (M/F = 2), one of whom presented with RF. One child carried the diagnosis of Schinzel-Giedion syndrome (SGS), demonstrating severe developmental and neurological disorders and bilateral hydronephrosis. The more frequent occurrence of UPJO in males with predominantly left-sided location, association with VUR and MCDK, and increased frequency of bilaterality in our prenatally diagnosed patients were similar to historical reports. In addition, prematurity and twinning were independently associated with UPJO

  17. Noninvasive prenatal testing by maternal plasma DNA analysis: current practice and future applications.

    PubMed

    Chiu, Rossa W K

    2014-01-01

    Prenatal screening of fetal chromosomal aneuploidies and some common genetic diseases is an integral part of antenatal care. Definitive prenatal diagnosis is conventionally achieved by the sampling of fetal genetic material by amniocentesis or chorionic villus sampling. Due to the invasiveness of those procedures, they are associated with a 1 in 200 chance of fetal miscarriage. Hence, researchers have been exploring noninvasive ways to sample fetal genetic material. The presence of cell-free DNA released by the fetus into the circulation of its mother was demonstrated in 1997. Circulating fetal DNA is therefore obtainable through the collection of a blood sample from the pregnant woman without posing any physical harm to the fetus. By analyzing this source of fetal genetic material, researchers have succeeded in developing DNA-based noninvasive tests for the assessment of Down syndrome and single gene diseases. Since the end of 2011, tests for the noninvasive assessment of chromosomal aneuploidies have become commercially available in parts of the world. Recommendations from professional groups have since been made regarding how these tests could be incorporated into the framework of existing prenatal screening programs. More recently, cell-free circulating fetal DNA analysis have been shown to be applicable to the deciphering of the fetal molecular karyotype, genome and methylome. It is envisioned that an increasing number of the noninvasive prenatal tests will become clinically available. The ethical, social and legal implications of the introduction of some of these tests would need to be discussed in the context of different cultures, societal values and the legal framework. PMID:25083893

  18. Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism.

    PubMed

    Serapinas, Danielius; Bartkeviciene, Daiva; Valantinaviciene, Emilija; Machtejeviene, Egle

    2016-10-01

    The recent introduction of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) offers pregnant women a more accurate method than traditional serum screening methods for detecting fetal aneuploidies. Clinical trials have demonstrated the efficacy of NIPT for Down, Edwards and Patau syndromes. However NIPT approaches that take advantage of single-nucelotide polymorphism (SNP) information potentially allow the identification of triploidy, chromosomal microdeletion syndromes and other unusual genetic variants. To highlight this approach of NIPT we present a rare case of confined placental X chromosome monosomy mosaicism that was prenatally suspected with a single-nucleotide polymorphism-based noninvasive prenatal test. The results of invasive tests (amniocentesis) showed small proportion of X chromosome mosaicism (45, X[5]/46, XX[95]). After birth karyotype of the girl revealed no abnormalities (46 XX), confirming that mosaicism was limited to the placenta. These results highlight the need of patient's informed consent and thorough pretest and postest counseling to ensure that they understand the limitations and advantages of the tests and the implications of the resultss. PMID:27606664

  19. Quantitative and Morphological Measures May Predict Growth and Mortality During Prenatal Growth in Japanese Quails

    PubMed Central

    Arora, Kashmiri L.; Vatsalya, Vatsalya

    2014-01-01

    Growth pattern and mortality rate during the embryonic phase of avian species are difficult to recognize and predict. Determination of such measures and associated events may enhance our understanding of characteristics involved in the growth and hatching process. Furthermore, some quantitative measures could validate morphological determinants during the embryonic phase and predict the course of normal growth and alterations. Our aim was to characterize quantitative growth of embryos and to establish baseline embryonic standards for use in comparative and pathological research during the prenatal life of Japanese quail. Day 10 was a landmark timeline for initiation of extensive anatomical changes in growth and transformation. Wet and dry weights were positively correlated with each other and inversely correlated with water content (p = 0.05). Following d10, the water content decreased progressively, whereas, dry and wet weights increased with increasing age. Velocity of growth in wet and dry weights was evident starting d6, spiked at d11 and d15 and then declined before hatching on d16. Organic and inorganic contents of embryos were positively associated with age. Progressive increase in the organic to inorganic ratio with age was evident after d5, spiked on d9, d13 and d16. Accurate determinations of prenatal growth processes could serve as valuable tools in identifying morphological developments and characterization of prenatal growth and mortality, thus enhancing the reproductive efficiency of the breeding colony and the postnatal robustness of the offspring. PMID:25285101

  20. [Molecular diagnosis of primary immunodeficiencies].

    PubMed

    García Rodríguez, M C; López Granados, E; Cambronero Martínez, R; Ferreira Cerdán, A; Fontán Casariego, G

    2001-01-01

    Knowledge of the molecular defects responsible for some primary immunodeficiency diseases (PIDs) offers undoubted advantages in establishing a reliable diagnosis. Such knowledge would allow us not only to establish a prognosis but also to instigate the most appropriate therapy. After molecular diagnosis, some patients could benefit from gene therapy. However, apart from the diagnosis of the disease, molecular biological techniques also enable more reliable identification of carriers and, when suggested by the family history and when the familial defect is already known, prenatal diagnosis will also be possible, thus establishing the earliest possible treatment. Using the single-stranded conformational polymorphism technique followed by direct sequencing, we found 22 different mutations in 22 patients from unrelated families and with a phenotype compatible with x-linked agammaglobulinemia. Fourteen of these are new, previously undescribed mutations and the remaining eight are already included in the data base (http://www.uta.fi/imt/bioinfo/Btkbase). Analysis of the female carrier was performed in all the mothers and the mutation was de novo in only one patient. Study of the BtK gene enabled differential diagnosis with common variable immunodeficiency disease in some patients who showed absent or very low lymphocyte B counts as well as forms of autosomal recessive agammaglobulinemia. Using the same techniques, we were able to identify mutations in the CD40 ligand gene in three families in which one of the members had clinical and biological phenotype compatible with X-linked hyper-IgM. Molecular diagnosis was very useful in identifying carriers in these families as well as in making the differential diagnosis among patients with common variable immunodeficiency disease. Purely on this were we able to provide appropriate genetic counseling. PMID:11434883