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Sample records for first-trimester prenatal diagnosis

  1. FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES

    NARCIS (Netherlands)

    CHRISTIAENS, GCML; Oosterwijk, JC; STIGTER, RH; DEUTZTERLOUW, PP; KNEPPERS, ALJ; BAKKER, E

    Two twin pregnancies at risk for a sex-linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second-trimester amniocentesis

  2. FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES

    NARCIS (Netherlands)

    CHRISTIAENS, GCML; Oosterwijk, JC; STIGTER, RH; DEUTZTERLOUW, PP; KNEPPERS, ALJ; BAKKER, E

    1994-01-01

    Two twin pregnancies at risk for a sex-linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second-trimester amniocentesis con

  3. Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

    DEFF Research Database (Denmark)

    Therkelsen, A J; Jensen, P K; Hertz, Jens Michael;

    1988-01-01

    First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all...... of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic...

  4. First-trimester prenatal sonographic diagnosis of ectopia cordis in a twin gestation.

    Science.gov (United States)

    Barbee, Kristen; Wax, Joseph R; Pinette, Michael G; Cartin, Angelina; Blackstone, Jacquelyn

    2009-01-01

    The 11-14-week ultrasound examination allows early pregnancy dating, detection of major anomalies and multiple gestations, and accurate chorionicity determination. We describe a rare case of first-trimester sonographic diagnosis of ectopia cordis in a dichorionic twin pregnancy, illustrating the benefits of early ultrasound in patient counseling and management.

  5. Prenatal diagnosis of Cantrell pentalogy in first trimester screening: case report and review of literature

    Science.gov (United States)

    Ergenoğlu, Mete Ahmet; Yeniel, A. Özgür; Peker, Nuri; Kazandı, Mert; Akercan, Fuat; Sağol, Sermet

    2012-01-01

    Pentalogy of Cantrell is a heterogeneous and rare thoraco-abdominal wall closure defect with the estimated prevalence of 1/65.000 to 1/200.000 births. Supraumbilical midline wall defect (generally omphalocele), deficiency of the anterior diaphragm and diaphragmatic peritoneum, defect of the lower sternum and several intracardiac defects are the components of Cantrell pentalogy. Etiology is unknown but a defect on the lateral mesoderm during the early stage of pregnancy is the most accepted hypothesis. Nowadays both 2- dimensional (2D) and 3-dimensional (3D) sonography are commonly used in diagnosis. In our case, a fetus with 11 weeks of gestation was reported as Cantrell pentalogy during first trimester screening. Additionally, unilateral limb defect and lumbar lordoscoliosis were detected through 3D sonography. Pregnancy was terminated according to parental desire. Karyotype was 46 XY. Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. Prognosis seems to be poor in patients with complete Cantrell syndrome and patients with associated anomalies. Termination is the choice of treatment. Early diagnosis gives us a chance to reduce maternal morbidity and mortality related to termination. PMID:24592026

  6. Application of trans-abdominal chorionic villus sampling in prenatal diagnosis of chromosomal diseases in first trimester of gestation

    Institute of Scientific and Technical Information of China (English)

    Qi Qing-wei; Xiang Yang; Hao Na; Zhou Jing; Lu Ke; Tan Li; Sun Nian-hu

    2008-01-01

    Objective:To evaluate the feasibility and safety of prenatal diagnosis by traneabdominal chorionic villus sam-pling(TA-CVS)via the guidance of B-mode ultrasound in the first trimester of gestation.To explore the technique of long time culture and chromosome preparation of villi in early pregnancy.To evaluate the feasibility of the above techniques in the application of the prenatal cytogenetic diagnosis.Methods:One hundred and thirty-five singleton pregnancies at risk were referred from January 2001 to Decem-ber 2007.Results:The average maternal age was 35.2 years.TA-CVS was performed in the 10~13th weeks of gestation and the average gestational age was 10.89 weeks.All attempts at sampling were successful.The rate of operation-associated fetal loss was 0.74%.The failure rate of prenatal diagnosis because of inadequate amount of specimen was 0.The average culture time was 5-7 days.The success rate of the cell culture was 98.5%.No maternal con-temination and bacterial contamination happened.Fifteen cases of abnormal karyotype and one case of confined pla-cantel mosaiciem were diagnosed.Conclusion:TA-CVS appears to be safe and feasible and might to be offered in the prenatal diagnosis in the first trimester of gestation.The technique of long time culture and chromosome preparation of villi is stable and reliable.It is feasible to apply these techniques in the clinical practice of prenatal cytogenetic diagnose in the early pregnancy.

  7. First-trimester prenatal diagnosis of Ellis–van Creveld syndrome

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    Chih-Ping Chen

    2012-12-01

    Conclusion: Prenatal diagnosis of an endocardial cushion defect with postaxial polydactyly should include a differential diagnosis of EvC syndrome in addition to short rib–polydactyly syndrome, Bardet–Biedl syndrome, orofaciodigital syndrome, Smith–Lemli–Opitz syndrome, and hydrolethalus syndrome.

  8. Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.

    Science.gov (United States)

    Goossens, M; Dumez, Y; Kaplan, L; Lupker, M; Chabret, C; Henrion, R; Rosa, J

    1983-10-06

    To investigate the usefulness of chorionic biopsy for prenatal diagnosis of sickle-cell anemia by restriction-endonuclease analysis of fetal DNA, we studied 30 pregnancies before elective abortion. When the reproducibility of the technique for obtaining adequate DNA samples was established, we successfully applied the test to five pregnancies at risk for sickle-cell anemia. In two cases, sickle-cell disease of the fetus led to a decision to terminate the pregnancy. In three other cases, a normal or AS genotype was demonstrated. One normal infant has been born, and one other pregnancy is continuing normally. In one case in which fetal death was observed three weeks after sampling, placental abnormalities found on histologic examination were compatible with a chromosomal aberration. Our study shows that chorionic biopsy is feasible for the prenatal diagnosis of sickle-cell disease before the 10th gestational week. If subsequent experience demonstrates this technique to be safe enough for mother and fetus, the ability to test in early pregnancy may make prenatal diagnosis acceptable to more couples at risk for serious genetic disorders.

  9. First trimester diagnosis and screening for fetal aneuploidy.

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    Driscoll, Deborah A; Gross, Susan J

    2008-01-01

    Maternal serum screening for neural tube defects and fetal aneuploidy in the second trimester has been incorporated into obstetrical practice over the past two decades. Now, as a result of several multicenter trials, first trimester screening between 11 and 14 weeks has been shown to be an effective and reliable screening test for Down syndrome and trisomy 18. Benefits of first trimester screening include earlier identification of the pregnancy at risk for fetal aneuploidy and anatomic defects, in particular, cardiac anomalies, and the option of earlier diagnosis by chorionic villus sampling, if available. This policy updates the American College of Medical Genetics policy statement entitled Second Trimester Maternal Serum Screening for Fetal Open Neural Tube Defects and Aneuploidy (2004) and complements the sections of American College of Medical Genetic's Standards and Guidelines for Clinical Genetics Laboratories entitled "Prenatal screening for Down syndrome that includes first trimester biochemistry and/or ultrasound measurements."

  10. Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

    DEFF Research Database (Denmark)

    Miltoft, Caroline Borregaard; Wulff, Camilla B; Kjærgaard, Susanne

    2017-01-01

    INTRODUCTION: The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high uptake of combined first-trimester screening (cFTS). MATERIAL AND METHODS: This was a nationwide population-based study including...... alive with T21. The cFTS risk was true-positive, false-negative or not obtained in 21.6, 48.0 and 30.4%, respectively, of these pregnancies. DISCUSSION: In this large national cohort, 4.4 per 10,000 live-born infants had T21. Of 102 infants with T21 from 2009 to 2012, 52.0% were born after the women had...

  11. Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening.

    Science.gov (United States)

    Miltoft, Caroline Borregaard; Wulff, Camilla B; Kjærgaard, Susanne; Ekelund, Charlotte K; Tabor, Ann

    2017-01-01

    The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high uptake of combined first-trimester screening (cFTS). This was a nationwide population-based study including infants born in 2009-2012. Information from the cFTS, fetal karyotype results and pregnancy outcome was obtained from the Danish Fetal Medicine Database on all women with a cFTS risk assessment. Cut-off for referral for invasive testing was ≥1:300. Karyotype results from pregnancies with no cFTS were obtained from the Danish Cytogenetic Central Registry. The uptake rate of cFTS was 91.6%, and 82.8% (8,032/9,704) of the screen-positive women opted for invasive testing. Overall, 82.2% (454/552) chose to terminate an affected pregnancy. In the 4-year period, 102 of 232,962 singletons were born alive with T21. The cFTS risk was true-positive, false-negative or not obtained in 21.6, 48.0 and 30.4%, respectively, of these pregnancies. In this large national cohort, 4.4 per 10,000 live-born infants had T21. Of 102 infants with T21 from 2009 to 2012, 52.0% were born after the women had not opted for cFTS or were true-positive but declined invasive testing or termination, and 48.0% were born after a false-negative risk assessment. © 2016 S. Karger AG, Basel.

  12. Diagnosis of Pentalogy of Cantrell in the First Trimester Using Transvaginal Sonography and Color Doppler

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    Türkçapar, Ayşe Figen; Sargın Oruc, Ayla; Öksüzoglu, Aysegül; Danışman, Nuri

    2015-01-01

    We report the prenatal diagnosis of Cantrell syndrome in the first trimester. During a routine transabdominal ultrasonographic examination, a midline supraumbilical abdominal wall defect including herniated liver and ectopia cordis with a large omphalocele containing the intestines and cystic hygroma was incidentally identified at the 12th week of gestation. A transvaginal sonography examination revealed a severe lumbosacral scoliosis in addition to the inability to visualize the abdominal aorta which was indicative of a severe intracardiac defect. The parents opted for pregnancy to be terminated. In this case report, we discuss the complementary role of transvaginal sonography and Doppler imaging in the diagnosis of Cantrell syndrome in early pregnancy. PMID:25802780

  13. Diagnosis of Pentalogy of Cantrell in the First Trimester Using Transvaginal Sonography and Color Doppler

    Directory of Open Access Journals (Sweden)

    Ayşe Figen Türkçapar

    2015-01-01

    Full Text Available We report the prenatal diagnosis of Cantrell syndrome in the first trimester. During a routine transabdominal ultrasonographic examination, a midline supraumbilical abdominal wall defect including herniated liver and ectopia cordis with a large omphalocele containing the intestines and cystic hygroma was incidentally identified at the 12th week of gestation. A transvaginal sonography examination revealed a severe lumbosacral scoliosis in addition to the inability to visualize the abdominal aorta which was indicative of a severe intracardiac defect. The parents opted for pregnancy to be terminated. In this case report, we discuss the complementary role of transvaginal sonography and Doppler imaging in the diagnosis of Cantrell syndrome in early pregnancy.

  14. First trimester prenatal screening among women pregnant after IVF/ICSI

    DEFF Research Database (Denmark)

    Anne Cathrine, Gjerris; Tabor, Ann; Loft, Anne;

    2012-01-01

    BACKGROUND Prenatal screening and diagnosis of chromosomal abnormalities especially Down's syndrome in IVF pregnancies are complicated by higher maternal age, a high multiple pregnancy rate, a high risk of a vanishing twin and an increased risk of chromosomal abnormalities, particularly in pregna......BACKGROUND Prenatal screening and diagnosis of chromosomal abnormalities especially Down's syndrome in IVF pregnancies are complicated by higher maternal age, a high multiple pregnancy rate, a high risk of a vanishing twin and an increased risk of chromosomal abnormalities, particularly...... in pregnancies after ICSI. The aim of the present systematic review was to evaluate the findings of first trimester screening for chromosomal abnormalities in IVF/ICSI singleton and twin pregnancies. METHODS A systematic MESH-term search in MEDLINE using PubMed and the Cochrane Library was performed until May...... 2011, with no earlier date limit. RESULTS The electronic search retrieved 562 citations, 96 of which were evaluated in detail and 57 were then excluded for not meeting the selection criteria. A total of 61 articles were finally selected for review. Our analysis of the data shows that, for IVF...

  15. Morphological study of human heart and placenta in the first trimester of prenatal period of ontogenesis

    OpenAIRE

    Abdul-Ogly L.V.

    2008-01-01

    Probability of abnormal development is high in certain periods when the increased sensitiveness of embryo and fetus takes place. Influence of damaging factors as maternal infection and, consequently, fetal infection is a reason of abnormal development. Morphological characteristics of heart and placenta were studied during the first trimester of prenatal period of ontogenesis. 17 embryos, fetuses and placenta of 4-12 weeks were used. Abortions were made according to medical statements or mate...

  16. First trimester sonographic diagnosis of ectopia cordis: a case report and review of the literature.

    Science.gov (United States)

    Hannoun, Antoine; Usta, Ihab M; Sawaya, Fadi; Nassar, Anwar H

    2011-06-01

    A case of ectopia cordis (EC) with gastroschisis in a 27-year-old primigravida was diagnosed at 10(3/7) weeks of gestation. The pregnancy was terminated by suction dilatation and curettage. With the increasing use of first trimester ultrasonography, early detection of fetal abnormalities is becoming more frequent. We review other published cases of EC detected in the first trimester and discuss the possible advantages of early diagnosis including options of termination at earlier gestational ages which might decrease the physical and psychological trauma on some patients.

  17. 孕早期绒毛产前诊断地中海贫血1072例分析%Analysis of Chorionic Villus Sampling Applied to Prenatal Diagnosis of 10 72 Cases of Thalassemia in First Trimester

    Institute of Scientific and Technical Information of China (English)

    何升; 张强; 唐燕青; 韦媛; 陈秋莉; 郑陈光

    2014-01-01

    目的:探讨地中海贫血高风险妊娠的产前诊断效果,为控制该类患儿的出生提供参考。方法孕10~15周孕妇1072例,取绒毛样本进行α和-β-地中海贫血基因检测。结果在1072例绒毛样本中,727例进行α-地贫基因分析,568例(78.13%)检出α-地贫;336例进行β地-贫基因分析,256例(76.19%)检出β-地贫;9例进行α-和β-地贫基因分析,均检出地贫基因。其中共检出Hb Bart′s症142例和β-地贫纯合子或双重杂合子胎儿75例,均在产前诊断后1周内终止妊娠。结论采用绒毛进行地中海贫血产前诊断能有效地减少该类患儿的出生。%Objective To control the birth of children with thalassemia by applying prenatal diagnosis to high risk pregnancy .Methods Chorionic villi samplings were performed in 1 072 pregnancies of gestational age of 10 to 15 weeks for the gene detection of α-or β-thalassemia .Results Out of 1 072 chorionic villi samples ,727 were given gene analysis of α-thalassemia , 568 ( 78 .13%) were carriers with α-thalassemia;336 were given gene analysis ofβ-thalassemia ,256 ( 76 .19%) were carriers with β-thalassemia;9 were given gene analysis of α-and β-thalassemia , all of which were carriers with thalassemia .There were 142 cases of Hb Bart′s disease and 75 cases of homozygous or double heterozygous β-thalassemia ,they all received termination of pregnancy within one week after prenatal diagnosis . Conclusion Chorionic villi sampling is a feasible and effective technique for prenatal diagnosis of thalassemia ,which might effectively control the birth of children with thalassemia .

  18. Lower uterine segment pregnancy with placenta increta complicating first trimester induced abortion: diagnosis and conservative management

    Institute of Scientific and Technical Information of China (English)

    刘欣燕; 范光升; 金征宇; 杨宁; 姜玉新; 盖铭英; 郭丽娜; 王友芳; 郎景和

    2003-01-01

    Objective To discuss the diagnosis of and conservative management for lower uterine segment pregnancy with placenta increta complicating first trimester abortion. Methods Four patients with previous caesarean section and severe hemorrhage in induced abortion during the first trimester were studied. Uterine artery embolization (UAE) was used to control bleeding and preserve the uterus. Results UAE controlled heavy uterine bleeding satisfactorily. One of the four patients asked for a hysterectomy after UAE, and her pathology report confirmed "lower uterine segment pregnancy with placenta increta". Conclusion Previous caesarean section is a risk factor for lower uterine segment pregnancy with placenta increta. UAE is one of the best conservative management methods for heavy hemorrhage, especially for women who desire future fertility.

  19. First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.

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    Jones, D; Fiozzo, F; Waters, B; McKnight, D; Brown, S

    2014-12-01

    We describe a first-trimester ultrasound examination in which the finding of fetal encephalocele and the cystic appearance of the kidneys raised suspicion of Meckel-Gruber syndrome (MKS). On the basis of sonographic findings, the patient elected termination of pregnancy, and post-termination studies using next-generation sequencing of a gene panel revealed two mutations (one previously described and the other novel) in the gene CC2D2A. Mutations in CC2D2A are known to cause MKS and Joubert syndrome, thus providing molecular confirmation of the clinical suspicion of MKS and opening the possibility for future prenatal diagnosis. This case highlights the ability to detect important anomalies in the first trimester using ultrasound, even in low-risk situations. It also demonstrates the growing role of new sequencing technologies in fetal testing. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  20. 30例经腹绒毛活检在孕早期产前诊断中的应用分析%Analysis of application of trans-abdominal chorionic villusin sampling in the prenatal diagnosis in the first trimester

    Institute of Scientific and Technical Information of China (English)

    田丽蕴; 范琦慧

    2015-01-01

    Objective To analyze the application of trans-abdominal chorionic villus sampling in the prenatal diagnosis in the first trimester. Methods A total of 70 patients with single birth and indication of invasive prenatal diagnosis in our hospital from November 2013 to January 2015 were selected. 30 pregnant women in the first trimester was given trans-abdominal chorionic villus sampling (TA-CVS), and 40 pregnant women in the second trimester was given am-niocentesis. Surgery successful rate and pregnancy loss rate were calculated in the two groups. Results In the 30 preg-nant women undergone TA-CVS, chromosome abnormality was detected in 15 cases and induced labor was carried out for all (including 1 case of stillbirth by re-examination 1 week after the surgery of trisomy-21), including 5 cases of trisomy-21, 3 cases of trisomy-13, 5 cases of 45 XO and 2 cases of trisomy-18. The rest of pregnant women with nor-mal testing results of chromosome were traced and observed until delivery. Complications such as placental hematoma, vaginal bleeding and discharge and infants' acromesomelic dysplasia were not seen in the 30 pregnant women. Com-pared with the 40 cases receiving amniocentesis, the surgery successful rate was 100%, and the pregnancy loss rate was 3.33%, and the difference was not statistically significant (P>0.05). Conclusion Amniocentesis should be performed in 18 weeks. Therefore, TA-CVS is able to detect the problem in early stage, so as to alleviate pregnant women's emo-tional and mental pressure. TA-CVS in the first trimester is an early, safe, accurate and reliable invasive technology for prenatal diagnosis. Successful surgery in real practice depends on various aspects.%目的 分析经腹绒毛活检在早孕期产前诊断中的应用. 方法 选择我院 2013年11月~2015年1月有介入性产前诊断指征的单胎病例70例,30例孕早期孕妇行经腹绒毛活检(trans-abdominal chorionic villus sampling, TA-CVS),40例孕中

  1. Measurement of fetal maxillary and mandibular angles for first-trimester prenatal screening among Taiwanese women

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    Fan-Hlan Koo

    2014-08-01

    Conclusion: Normative data for ultrasonographic measurements of maxillary and mandibular angles among the Taiwanese population are presented. Our results may serve as reference values in congenital anomaly screening during prenatal examination.

  2. Non-invasive prenatal testing of trisomy 18 by an epigenetic marker in first trimester maternal plasma.

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    Da Eun Lee

    Full Text Available BACKGROUND: Quantification of cell-free fetal DNA by methylation-based DNA discrimination has been used in non-invasive prenatal testing of fetal chromosomal aneuploidy. The maspin (Serpin peptidase inhibitor, clade B (ovalbumin, member 5; SERPINB5 gene, located on chromosome 18q21.33, is hypomethylated in the placenta and completely methylated in maternal blood cells. The objective of this study was to evaluate the accuracy of non-invasive detection of fetal trisomy 18 using the unmethylated-maspin (U-maspin gene as a cell-free fetal DNA marker and the methylated-maspin (M-maspin gene as a cell-free total DNA marker in the first trimester of pregnancy. METHODOLOGY/PRINCIPAL FINDINGS: A nested case-control study was conducted using maternal plasma collected from 66 pregnant women, 11 carrying fetuses with trisomy 18 and 55 carrying normal fetuses. Median U-maspin concentrations were significantly elevated in women with trisomy 18 fetuses compared with controls (27.2 vs. 6.7 copies/mL; P<0.001. Median M-maspin concentrations were also significantly higher in women with trisomy 18 fetuses than in controls (96.9 vs. 19.5 copies/mL, P<0.001. The specificities of U-maspin and M-maspin concentrations for non-invasive fetal trisomy 18 detection were 96.4% and 74.5%, respectively, with a sensitivity of 90.9%. CONCLUSIONS: Our results suggest that U-maspin and M-maspin concentrations may be useful as potential biomarkers for non-invasive detection of fetal trisomy 18 in the first trimester of pregnancy, irrespective of the sex and genetic variations of the fetus.

  3. Prenatal Diagnosis

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    Ozge Ozalp Yuregir

    2012-02-01

    Full Text Available Prenatal diagnosis is the process of determining the health or disease status of the fetus or embryo before birth. The purpose is early detection of diseases and early intervention when required. Prenatal genetic tests comprise of cytogenetic (chromosome assessment and molecular (DNA mutation analysis tests. Prenatal testing enables the early diagnosis of many diseases in risky pregnancies. Furthermore, in the event of a disease, diagnosing prenatally will facilitate the planning of necessary precautions and treatments, both before and after birth. Upon prenatal diagnosis of some diseases, termination of the pregnancy could be possible according to the family's wishes and within the legal frameworks. [Archives Medical Review Journal 2012; 21(1.000: 80-94

  4. Representing and intervening: 'doing' good care in first trimester prenatal knowledge production and decision-making

    DEFF Research Database (Denmark)

    Schwennesen, Nete; Koch, Lene

    2012-01-01

    attention to the active engagement of health professionals in this process. Current professional and policy debate over the use of prenatal testing emphasises the need for informed choice making and for services that provide prospective parents with what is referred to as 'non-directive counselling...... modes of 'doing' good care: attuning expectations and knowledge, allowing resistance and providing situated influence in the relationship between the pregnant woman and the professional. Such practices may not be seen as immediately compatible with the non-directive ethos, but they express ways...... of reducing emotional suffering and supporting a pregnant woman's ability to make meaningful choices on the basis of uncertain knowledge. As such, these practices can be seen as representing another (caring) solution to the problem of paternalism and authoritarian power. In opposition to an ethics aiming...

  5. First-trimester diagnosis of Meckel-Gruber syndrome by transabdominal sonography in a low-risk case.

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    Braithwaite, J M; Economides, D L

    1995-12-01

    Meckel-Gruber syndrome is a rare autosomal recessive disorder often resulting in neonatal death within a few hours of life. The condition is usually diagnosed ultrasonographically in the second trimester and earlier diagnosis has been mainly confined to high recurrence risk pregnancies. We describe the earliest non-invasive diagnosis of this condition at 12+2 weeks' gestation in a patient with no previous history using transabdominal ultrasound. Pregnancy termination was declined. Subsequent development of anhydramnios in the mid-trimester resulted in poor fetal visualization. We propose that first-trimester diagnosis of this condition is not only possible but preferable, as normal liquor volume facilitates visualization of fetal anatomy.

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

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    Brandon S Walker

    Full Text Available 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.Decision-analytic model using micro-simulation and probabilistic sensitivity analysis. We evaluated cost effectiveness from three perspectives: societal, governmental, and payer.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.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.

  7. Prenatal Care: First Trimester Visits

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    ... mention even sensitive issues, such as domestic abuse, abortion or past drug use. Remember, the information you ... Your health care provider will use a fetal ultrasound to help confirm the date. Physical exam Your ...

  8. 孕早期胎儿超声结构筛查的必要性探讨%The essentiality of prenatal ultrasound screening of fetal malformations in the first trimester

    Institute of Scientific and Technical Information of China (English)

    戴晨燕; 茹彤; 顾燕; 杨燕; 杨丽娟; 徐燕

    2012-01-01

    Objective; To assess the essentiality of ultrasound screening in detecting the abnormal cases in the first trimester. Methods: The retrospective review included the pregnant women in the first trimester from December 1, 2007 to October 31, 2010 in the Center for prenatal diagnosis in The Affiliated Drum Tower hospital of Nanjing University Medical College. Scan fetal structural with transabdominal ultrasound, the conventional measurement of fetal crown - rump distance ( CRL) , nuchal translucency thickness (NT) , fetal heart rate (HR) , observation of fetal brain, spine, extremities, thoracic and abdominal wall, four - chamber view of the heart, stomach, bladder, double umbilical artery, placental and amniotic fluid volume and other indicators, determine whether fetal structural abnormalities and its appendages. Results; A total of 3000 pregnant women in 11 -13 +6 weeks suffered the examination, in which a single pregnancy in 2514 cases, 478 cases of twin pregnancy, three pregnancy in 8 cases. All of them, there were 91 cases with fetal structural abnormalities. Conclusion: Ultrasound screening in the first trimester can detect out the severe structural abnormalities of fetal at the very onset, and provide the support for further prenatal diagnosis and obstetric treatment. For multiple pregnancy after the discovery of fetal structural abnormalities, but also in judgment of chorionic, to provide the basis for abnormal conditions in the treatment.%目的 通过研究孕早期胎儿超声结构筛查发现的异常病例,探讨孕早期行超声结构筛查的必要性.方法 回顾2007年12月1日至2010年10月31日在南京市鼓楼医院产前诊断中心超声室行孕早期胎儿结构筛查的孕妇,行经腹部超声检查胎儿,常规测量胎儿冠臀距(CRL)、颈项透明层厚度(NT)、胎心率(HR),观察胎儿颅脑、脊柱、四肢、胸腹壁、四腔心结构、胃泡、膀胱、双脐动脉、胎盘及羊水量等指标,明确有无胎儿及其

  9. [Cocaine and trisomy 8 associated with prenatal diagnosis of corpus callosum agenesis].

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    Gonzales, E; Caeymaex, L; Aboura, A; Vial, M; De Laveaucoupet, J; Labrune, P; Tachdjian, G

    2005-12-01

    We report the case of a newborn presenting an agenesis of corpus callosum (ACC) discovered in the prenatal period and initially related to cocaine exposure during the first trimester of gestation. The cytogenetic analysis revealed a trisomy 8 mosaicism. The putative role of prenatal cocaine exposure and mosaicism for chromosome 8 in ACC are discussed. This report emphasizes the specific analysis of chromosome 8 by using fluorescence in situ hybridization as a complement to routine cytogenetic analysis for prenatal diagnosis of ACC.

  10. First Trimester Down Syndrome Screen

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    ... disorder such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The first trimester screen is one ... chromosome material that results in Down syndrome or Edwards syndrome , the levels of PAPP-A tend to be ...

  11. Human prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Filkins, K.; Russo, R.J.

    1985-01-01

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

  12. Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

    Directory of Open Access Journals (Sweden)

    Ryszard Slezak

    2008-04-01

    Full Text Available The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood. An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR.

  13. First trimester screening for Trisomy 21 in Denmark: Implications on detection and birth rates of Trisomy 18 and Trisomy 13

    DEFF Research Database (Denmark)

    Ekelund, Charlotte Kvist; Petersen, Olav Bjørn; Skibsted, Lillian

    2011-01-01

    In Denmark a new national guideline for prenatal screening and diagnosis was issued in 2004 according to which all pregnant women should be offered a first-trimester combined risk assessment for trisomy 21 (T21). The aim of this study was to investigate whether the new screening strategy for T21 ...... has changed the gestational age at which trisomy 18 (T18) and trisomy 13 (T13) are diagnosed prenatally, and the number of infants born with T18 or T13.......In Denmark a new national guideline for prenatal screening and diagnosis was issued in 2004 according to which all pregnant women should be offered a first-trimester combined risk assessment for trisomy 21 (T21). The aim of this study was to investigate whether the new screening strategy for T21...

  14. Prenatal Risk Calculation (PRC) 3.0: An Extended DoE-Based First-Trimester Screening Algorithm Allowing For Early Blood Sampling

    Science.gov (United States)

    Merz, E.; Thode, C.; Eiben, B.; Wellek, S.

    2016-01-01

    Aim: Both previous versions of the German PRC algorithm developed by our group for routine first-trimester screening relied on the assumption that maternal blood sampling and fetal ultrasonography are performed at the same visit of a pregnant women. In this paper we present an extension of our method allowing also for constellations where this synchronization is abandoned through preponing blood sampling to dates before 11 weeks of gestation. Methods: In contrast to the directly measured concentrations of the serum parameters PAPP-A and free ß-hCG, the logarithmically transformed values could be shown to admit the construction of reference bands covering the whole range from 16 to 84 mm CRL [corresponding to 63 to 98 days of gestation]. Prior to determining reference limits from which the DoEs for each individual patient had to be calculated, the log concentrations of all PAPP-A and free ß-hCG values were transformed once more using the calibration approach established in 1 for the elimination of the influence of maternal weight. Results: Although that part of the database which was available for estimating the reference bands for blood sampling times prior to 11 weeks of gestation was comparatively sparse (898 out of 186 215 pregnancies with euploid outcome), the key statistical characteristics of the extended risk-calculation procedure turned out to be very satisfactory. Using the same cutoff value of 1:150 for the posterior risks of trisomy 21 and 13/18, the overall FPR (false positive rate) for diagnosing a T21 was found to be 3.42%. The corresponding DTR (detection rate) was obtained to be 86.8% and thus exceeded the DTR attained by PRC 2.0 for trisomy 21. For trisomies 13 and 18, the proportions of patients with calculated posterior risks exceeding the cutoff value of 1:150 were obtained to be 1.60% (=FPR) and 86.4% (=DTR). Conclusion: Transforming the measured concentrations of PAPP-A and free ß-hCG to the logarithmic scale allows one to extend the Do

  15. Prenatal ultrasound and fetal MRI: The comparative value of each modality in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Pugash, Denise [Department of Radiology, University of British Columbia, Vancouver (Canada)], E-mail: dpugash@cw.bc.ca; Brugger, Peter C. [Integrative Morphology Group, Centre of Anatomy and Cell Biology, Medical University of Vienna, Waehringerstrasse 13, 1090 Vienna (Austria); Bettelheim, Dieter [University Clinics of Obstetrics and Gynaecology, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria); Prayer, Daniela [University Clinics of Radiodiagnostics, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria)

    2008-11-15

    Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of clinical indications. Advantages and disadvantages of each imaging modality are addressed. In summary, MRI has advantages in demonstrating pathology of the brain, lungs, complex syndromes, and conditions associated with reduction of amniotic fluid. At present, US is the imaging method of choice during the first trimester, and in the diagnosis of cardiovascular abnormalities, as well as for screening. In some conditions, such as late gestational age, increased maternal body mass index, skeletal dysplasia, and metabolic disease, neither imaging method may provide sufficient diagnostic information.

  16. Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

    Directory of Open Access Journals (Sweden)

    Gianfranca Damiani

    2014-09-01

    Full Text Available Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthesis analysis on fetal blood. In the 1980s molecular analysis was introduced as well as amniocentesis and chorionic villi sampling under high-resolution ultrasound imaging. The application of direct sequencing and polymerase chain reactionbased methodologies improved the DNA analysis procedures and reduced the sampling age for invasive prenatal diagnosis from 18 to 16- 11 weeks allowing fetal genotyping within the first trimester of pregnancy. In the last years, fetal material obtained at 7-8 weeks of gestation by coelocentesis and isolation of fetal cells has provided new platforms on which to develop diagnostic capabilities while non-invasive technologies using fetal DNA in maternal circulation are starting to develop.

  17. Prenatal diagnosis of hemimegalencephaly.

    Science.gov (United States)

    Lang, Shih-Shan; Goldberg, Ethan; Zarnow, Deborah; Johnson, Mark P; Storm, Phillip B; Heuer, Gregory G

    2014-01-01

    In recent literature, there have been case reports of prenatal diagnosis of hemimegalencephaly, an extremely rare entity characterized by enlargement of all or portions of 1 cerebral hemisphere and intractable seizures. A unique case is presented of hemimegalencephaly of a fetus diagnosed in utero. A 27-year-old woman presented at 32 weeks' gestation for fetal magnetic resonance imaging after an abnormal fetal ultrasound. Fetal magnetic resonance imaging showed hemimegalencephaly of the left cerebral hemisphere with abnormal gyration. The patient was born via cesarean section at 39 weeks' gestation. He had continuous infantile spasms and partial-onset seizures starting on day 1 of life, and electroencephalography showed burst suppression. The patient's seizures were initially managed with antiepileptics, prednisolone, and a ketogenic diet; however, he was hospitalized multiple times because of status epilepticus. At 6 months of age, he underwent a successful anatomic left hemispherectomy. In utero diagnosis of complex developmental brain anomalies allows a multidisciplinary approach to provide optimal prenatal patient treatment and parental counseling. Copyright © 2014 Elsevier Inc. All rights reserved.

  18. Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus.

    Science.gov (United States)

    Tonni, Gabriele; Gabriele, Tonni; Grisolia, Gianpaolo; Gianpaolo, Grisolia

    2013-07-01

    Sirenomelia is caused by atrophy of the lower extremities that is commonly associated with gastrointestinal and urogenital malformations. Embryogenic environmental theories and systematic review of the literature are reported. Genetic basis of the condition has been demonstrated in the animal model. In humans, association with de novo balanced translocation has only recently been documented. A case of triploidy mosaic fetus with sirenomelia and posterior fossa anomaly diagnosed at first trimester using novel three-dimensional ultrasound imaging techniques is presented.

  19. First trimester bleeding and maternal cardiovascular morbidity

    DEFF Research Database (Denmark)

    Lykke, Jacob A; Langhoff-Roos, Jens

    2012-01-01

    First trimester bleeding without miscarriage is a risk factor for complications later in the pregnancy, such as preterm delivery. Also, first trimester miscarriage has been linked to subsequent maternal ischemic heart disease. We investigated the link between maternal cardiovascular disease prior...... to and subsequent to first trimester bleeding without miscarriage....

  20. Results of prenatal screening for fetal chromosome abnormality during the first trimester pregnancy in Guangzhou%广州市早孕期产前筛查胎儿染色体异常的结果分析

    Institute of Scientific and Technical Information of China (English)

    许遵鹏; 李蓓; 廖灿; 孙茜; 白雪; 李东至

    2014-01-01

    Objective To evaluate the efficiency of first trimester prenatal screening for fetal chromosome abnormality using maternal serum marker test and/or plus nuchal translucency (NT) in Guangzhou region.Methods The results of prenatal screening were retrospectively analyzed among 43 703 women with singleton pregnancies from January 2007 to September 2012.A total of 43 703 pregnancies between 9 and 13+6 weeks of pregnancy were collected and analyzed for maternal serum pregnancy-associated plasma protein A (PAPPA),free β-human chorionic gonadotropin (free β-hCG) with or without crownrump length (CRL).Nuchal translucency was measured by ultrasonographic scan between 11 and 13+6 weeks of pregnancy.Gestational age was estimated by ultrasonographic scan.The risk values of Down syndrome (DS) and trisomy 18 were calculated using the software Lifcycle.Comparing the difference between the combined screening (PAPPA,free β-hCG and NT) and serum marker screening (PAPPA and free β-hCG).Results Among the 43 703 pregnant women,screening showed that 1385 (3.17%) were Down syndrome positive and 55 (0.13%) were trisomy 18 positive.The final outcomes of pregnancy showed that 142 cases presented chromosomal abnormalities,of which 54 cases suffered from Down syndrome,13 had trisomy 18,and 75 had other chromosome abnormalities.The total detection rate of Down syndrome and trisomy 18 were 83.33% and 76.92%,respectively.The positive rate is lower,and the detection rate is higher in combined screening group than serum marker screening group.The median PAPPA MoM was lower and the median free β-hCG MoM and NT measured value was higher in Down syndrome pregnancies than control group.The median PAPPA and free β-hCG MoM were lower and the median NT measured value was higher in trisomy 18 pregnancies than control group.Conclusion The first trimester prenatal screening can effectively detect Down syndrome and trisomy 18 pregnancy.The combined screening method is superior to the serum

  1. Early Biochemical Screening for Fetal Aneuploidy in the First Trimester

    DEFF Research Database (Denmark)

    Tørring, Niels

    2013-01-01

    Background Screening for fetal trisomy 21 in the first trimester includes analysis of the serological markers pregnancy-associated plasma protein A (PAPP-A) and free beta human choriogonadotropin (free βhCG). With the recent launch of the PAPP-A free βhCG and assays on the Roche Cobas and Elecsys...... platforms, we investigated their clinical and analytical performance in samples from gestaional weeks 8+0 to 14+0. Methods. We conducted a multicenter study based on serum samples from 5397 pregnancies including 107 samples from cases of verified fetal trisomy 21 at 8 to 14 weeks of gestation. A technical...... with the standards for biochemical assays for prenatal screening set by the Fetal Medicine Foundation, with low assay imprecision, and a high clinical performance of prenatal screening for fetal trisomy in the first trimester....

  2. PRENATAL DIAGNOSIS IN ORGANIC ACIDEMIA

    Directory of Open Access Journals (Sweden)

    Hedieh SANEIFARD

    2012-03-01

    Full Text Available Organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.Because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.Three approaches to prenatal diagnosis may be possible, including measurement of analytes in amniotic fluid or use of cells obtained by Choronic Villus sampling (CVS or amniocentesis to either assay enzyme activity or extract DNA for molecular genetic testing.Biochemical genetic testing: Prenatal diagnosis for pregnancies at increased risk for propionic acidemia, methylmalonic acidemia, biotin-unresponsive3-methylcrotonyl-CoA carboxylase deficiency, glutaric acidemia type 1, ketothiolase deficiency, methylmalonic aciduria and homocystinuria, cblC type, and isovaleric acidemia is possible by analysis of amniotic fluid if highly accurate quantitative methods are used to measure the appropriate analytes. Amniocentesis is usually performed at approximately 15 to 18 weeks gestation.Prenatal diagnosis for pregnancies at increased risk for MSUD is possible by measurement of enzyme activity in fetal cells obtained by chorionic villous sampling(CVS at approximately ten to 12 weeks gestation or amniocentesis usually performed at approximately 15 to 18 weeks gestation.(If cells from CVS are used, extreme care must be taken to assure that they are fetal rather than maternal cells.Molecular genetic testing:Prenatal diagnosis for pregnancies at increased risk for all disorders is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at approximately 15 to 18 weeks of gestation or chorionic villous sampling (CVS at approximately ten to 12 weeks of gestation. Both disease-causing allels of an affected family member must be identified before prenatal testing.Preimplantation genetic diagnosis (PGD

  3. The effection of choriontity on twin's first-trimester prenatal screening.%绒毛膜性质对双胎早期唐氏征筛查的影响

    Institute of Scientific and Technical Information of China (English)

    唐华; 周莹; 唐汪澜; 王华

    2016-01-01

    目的 通过比较不同绒毛膜性对双胎早期唐氏筛查风险的影响,指导双胎早期唐氏筛查的风险计算.方法 收集2014年7月至12月于湖南省妇幼保健院行唐氏筛查的170例自然妊娠双绒毛膜双羊膜囊双胎孕妇,用双绒毛膜双羊膜囊、单绒毛膜双羊膜囊及单绒毛膜单羊膜囊分别计算风险并追踪妊娠结局,比较用不同绒毛膜性进行风险计算所造成的差异.结果 按双绒毛膜双羊膜囊、单绒毛膜双羊膜囊及单绒毛膜单羊膜囊计算的妊娠相关蛋白A中位数倍数(PAPP-A MOM)分别为2.19,1.20,1.37;人绒毛膜促性腺激素游离β亚基中位数倍数(free HCG βMOM)分别为2.02,1.09,1.36.按双绒毛膜双羊膜囊、单绒毛膜双羊膜囊及单绒毛膜单羊膜囊计算所得唐氏综合征高风险例数分别为1 3例、10例和7例,假阳性率分别为7.65%,5.88%,4.12%.追踪所有孕妇妊娠结局,其中双胎之一发生染色体异常者2例,双胎之一停育者2例,双胎停育者1例,1例双胎之一为心脏室间隔缺损,出生后行手术修补,1例双胎出生后均确诊为先天性甲状腺功能减低症.结论 运用不同绒毛膜性进行双胎早期唐氏筛查风险计算,血清生化指标及风险值会发生显著变化,应按照孕妇真实情况详细描述双胎绒毛膜性,避免错误风险计算及漏筛情况的发生.%Objective:To study whether there were significant difference among different choriontity for guiding the clinical twin's first-trimester prenatal screening.Method:Collecting 170 cases of natural twin pregnancy samples from July 2014 to December 2014.All cases were dichorionic diamniotic (DCDA).Using different chodontity such as dichorionic diamniotic,monochorionic diamniotic (MCDA),monochorionic monoamniotic (MCMA) calculated the risk of Down's syndrome at the first-trimester pregnancy.The difference were analyzed combined with the pregnancy results were followed up.Results:According to different

  4. Prenatal diagnosis of congenital diseases

    NARCIS (Netherlands)

    M.F. Niermeijer (Martinus)

    1975-01-01

    textabstractPrenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a

  5. Prenatal Diagnosis of Arachnoid Cysts

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-09-01

    Full Text Available Arachnoid cysts are a rare central nervous system malformation, representing only 1% of all intracranial masses in newborns. Primary (congenital arachnoid cysts are benign accumulation of clear fluid between the dura and the brain substance throughout the cerebrospinal axis in relation to the arachnoid membrane and do not communicate with the subarachnoid space. Secondary (acquired arachnoid cysts result from hemorrhage, trauma, and infection and usually communicate with the subarachnoid space. The common locations of arachnoid cysts are the surface of the brain at the level of main brain fissures, such as sylvian, rolandic and interhemispheric fissures, sella turcica, the anterior cranial fossa, and the middle cranial fossa. Arachnoid cysts may be associated with ventriculomegaly and dysgenesis of corpus callosum. Prenatal ultrasound and magnetic resonance imaging have led to the increased diagnosis of fetal arachnoid cysts. This article provides a thorough review of fetal arachnoid cysts, including prenatal diagnosis, differential diagnosis and associated chromosomal abnormalities, as well as comprehensive illustrations of perinatal imaging findings of fetal arachnoid cysts. Prenatal diagnosis of intracranial hypoechoic lesions should include a differential diagnosis of arachnoid cysts and prompt genetic investigations.

  6. First trimester Down's syndrome screening - pregnant women's knowledge

    DEFF Research Database (Denmark)

    Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener;

    2011-01-01

    OBJECTIVES: The primary aim of this study was to assess pregnant women's knowledge of first trimester combined Down's syndrome screening in a setting of required informed consent. Secondary, we wanted to identify relevant differences in knowledge level among subgroups of pregnant women, including...... of adverse findings other than Down's syndrome. Knowledge level was positively associated with length of education (adjusted ORs 1.0 (0.8-1.4) to 3.9 (2.4-6.4)) and participation in the screening programme (adjusted OR 0.9 (0.6-1.3) to 5.9 (3.9-8.8)). Participation in an individual information session...... subgroups informed in different ways about prenatal examinations. METHODS: Data stem from a population-based cross-sectional questionnaire study including 15 multiple-choice questions assessing knowledge of different screening aspects. Included were 6,427 first trimester pregnant women from three Danish...

  7. Prenatal diagnosis of cloacal malformation.

    Science.gov (United States)

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

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Sonographic spectrum of first-trimester fetal cephalocele: review of 35 cases.

    Science.gov (United States)

    Sepulveda, W; Wong, A E; Andreeva, E; Odegova, N; Martinez-Ten, P; Meagher, S

    2015-07-01

    of the biparietal diameter and nuchal translucency, respectively. However, the sonographic features are highly variable. A significant proportion of cases are associated with genetic or disruptive syndromes. Prenatal diagnosis of cephalocele in the first trimester was associated with a high rate of termination of pregnancy and early intrauterine fetal demise. Only one fetus in this series survived and is neurologically intact; therefore, the prognosis of this condition remains poor. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  9. The Importance of a Late First Trimester Placental Sonogram in Patients at Risk of Abnormal Placentation

    Directory of Open Access Journals (Sweden)

    Felipe Moretti

    2014-01-01

    Full Text Available Background. Placenta accreta is a potentially life-threatening obstetrical condition and is responsible for many emergency Caesarean hysterectomies. Early prenatal diagnosis may help minimize maternal morbidity and mortality. This report highlights risk factors, early diagnostic findings and complications associated with placenta accreta, and the role of first trimester sonography in diagnosis. Case. A 38-year-old pregnant woman, G2P1L1 with history of one previous Caesarean section, presented with vaginal bleeding at 13 weeks’ gestation. Ultrasound examination was highly suspicious of placenta previa with accreta. During an earlier 12-week scan for nuchal translucency measurement, the placenta was suboptimally visualized. She was counselled regarding potential maternal and fetal complications as well as management options. At 33 weeks’ gestation Caesarean hysterectomy was performed due to vaginal bleeding. Conclusion. Early ultrasound screening in high-risk patients may be advantageous in order to identify placenta accreta and conduct appropriate patient counseling regarding risks and management options.

  10. First trimester nicotine exposure and the risk of infantile colic

    DEFF Research Database (Denmark)

    Milidou, Ioanna; Henriksen, Tine Brink; Jensen, Morten Søndergaard

    Background: Although prenatal exposure to maternal smoking has been associated with infantile colic (IC), to date no published studies have reported on the relationship between the prenatal use of nicotine replacement therapy (NRT) and IC. Aim: We aimed to assess the relationship between fetal...... exposure to nicotine, coming from both cigarette smoking and use of NRT early in pregnancy, and IC. Methods: The study population consisted of 63,883 pregnancies that resulted in live born singletons enrolled in the Danish National Birth Cohort between 1997 and 2002. Mother’s smoking habits and use of NRT......: The results indicate that prenatal exposure to nicotine from any source during the first trimester of the pregnancy increases the risk of infantile colic....

  11. Prenatal Diagnosis of WAGR Syndrome

    Directory of Open Access Journals (Sweden)

    Berrin Tezcan

    2015-01-01

    Full Text Available Wilm’s tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11.

  12. First-trimester fetal sex determination in maternal serum using real-time PCR.

    Science.gov (United States)

    Costa, J M; Benachi, A; Gautier, E; Jouannic, J M; Ernault, P; Dumez, Y

    2001-12-01

    Fetal sex prediction can be achieved using PCR targeted at the SRY gene by analysing cell-free fetal DNA in maternal serum. Unfortunately, the results reported to date show a lack of sensitivity, especially during the first trimester of pregnancy. Therefore, determination of fetal sex by maternal serum analysis could not replace karyotype analysis following chorionic villus sampling. A new highly sensitive real-time PCR was developed to detect an SRY gene sequence in maternal serum. Analysis was performed on 121 pregnant women during the first trimester of pregnancy (mean gestational age: 11.8 weeks). Among them, 51 had at least one previous male-bearing pregnancy. Results were compared with fetal sex. SRY PCR analysis of maternal serum was in complete concordance with fetal sex. Among the 121 pregnant women, 61 were bearing a male fetus and 60 a female fetus. No false-negative results were observed. Furthermore, no false-positive results occurred, even though 27 women carrying a female fetus during the current pregnancy had at least one previous male-bearing pregnancy. This study demonstrates that a reliable, non-invasive sex determination can be achieved by PCR analysis of maternal serum during the first trimester of pregnancy. This non-invasive approach for fetal sex prediction should have great implications in the management of pregnant women who are carriers of an X-linked genetic disorder. Prenatal diagnosis might thus be performed for male fetuses only, avoiding invasive procedures and the risk of the loss of female fetuses.

  13. Genetic diagnosis of chorionic villi from first-trimester miscarriages by SNP array%早期自然流产绒毛组织SNP-array遗传学诊断研究

    Institute of Scientific and Technical Information of China (English)

    罗春玉; 胡平; 王艳; 杨吟秋; 徐青; 骆潇洁; 李璃; 孟露露; 马定远; 许争峰

    2014-01-01

    Objective:To investigate the clinical value of single nucleotide polymor-phism array ( SNP-array) in the genetic diagnosis of chorionic villi from first-trimester miscar-riages. Methods:A cohort of 82 patients with first-trimester miscarriage undergoing dilation and curettage were enrolled in this study. Karyotyping by standard G-banding analysis was carried out on the cultured chorionic villi cell, while SNP-array analysis was performed on genomic DNA extracted from chorionic villi. Results:72 of 82 cases were successfully analyzed by G-banding karyotyping and the remaining 10 cases were failed,while SNP-array analysis succee-ded in all of the 82 cases. G-banding detected 35 normal and 37 abnormal karyotypes. SNP-ar-ray detected 30 cases of normal and 52 abnormal karyotypes. SNP-array revealed 6 abnormal chromosomes in 10 cases without G-banding analyses. Analyses from 12 cases by G-banding were discordant with those by SNP-array. SNP-array detected 4 cases of uniparental disomies ( UPD) . Conclusion:SNP-array could be used for genetic diagnosis of the first-trimester mis-carriages,due to its high-accuracy,high-throughput and rapid-analysis.%目的:初步探讨单核苷酸多态性阵列( SNP-array)在早期流产绒毛遗传学诊断中的临床应用价值。方法:选取临床诊断为早期自然流产的82例患者,刮宫术后获取绒毛组织,行常规绒毛细胞培养G显带核型分析,并同时提取绒毛组织DNA进行SNP-ar-ray检测,比较两者的检测结果。结果:常规绒毛细胞培养G显带核型诊断成功率87.8%(72/82),SNP-array诊断成功率为100%(82/82)。 G显带分析获得结果72例,核型正常35例,核型异常37例,异常率51.4%(37/72)。82例SNP-array分析结果中,核型正常30例,核型异常52例,异常率63.4%(52/82)。 G显带分析失败的10例标本中, SNP-array检出6例异常;G显带与SNP-array结果不符的12例中,包括2例全基因组单亲二倍体( uniparental disomy,UPD),2例是部分染色

  14. First-Trimester Exposure to Methylphenidate

    DEFF Research Database (Denmark)

    Pottegård, Anton; Hallas, Jesper; Andersen, Jon T

    2014-01-01

    OBJECTIVE: The use of methylphenidate to treat attention-deficit/hyperactivity disorder has risen dramatically in Western countries, and it is increasingly used by adults, including women of childbearing age. Very little is known about potential hazards of in utero exposure to methylphenidate. We...... conducted this study to estimate the risk of major congenital malformations following first-trimester in utero exposure to methylphenidate. METHOD: Data from 2005 to 2012 were extracted from the Danish National Patient Register, the Danish National Prescription Registry, the Medical Birth Registry......, and the Danish Civil Registration System. Exposure was defined as having redeemed 1 or more prescriptions for methylphenidate within a time window defined as 14 days before the beginning of the first trimester up to the end of the first trimester. Each exposed subject was propensity score-matched to 10 unexposed...

  15. Assessment of global DNA methylation in the first trimester fetal tissues exposed to maternal cigarette smoking

    DEFF Research Database (Denmark)

    Fa, Svetlana; Larsen, Trine Vilsbøll; Bilde, Katrine

    2016-01-01

    AIMS: Maternal cigarette smoking during pregnancy increases the risk of negative health consequences for the exposed child. Epigenetic mechanisms constitute a likely link between the prenatal exposure to maternal cigarette smoking and the increased risk in later life for diverse pathologies...... to exposures with an epigenetic impact. We have assessed the influence of maternal cigarette smoking during the first trimester for fetal global DNA methylation. METHODS AND RESULTS: We analyzed the human fetal intestines and livers as well as the placentas from the first trimester pregnancies. Global DNA...... changes in exposure responses to the first trimester maternal cigarette smoking. CONCLUSIONS: Acknowledging that only examining subsets of global DNA methylation markers and fetal sample availability represents possible limitations for the analyses, our presented results indicate that the first trimester...

  16. Prenatal diagnosis in multiple pregnancy.

    Science.gov (United States)

    Taylor, M J; Fisk, N M

    2000-08-01

    Fetal abnormality is more common in multiple than in singleton pregnancies. This, together with the requirement to consider the risks with at least two babies to sample correctly each fetus and to undertake accurately-targeted selective termination, amounts to a major challenge for obstetricians involved in prenatal diagnosis. Early determination of chorionicity should be routine, since this influences not only the genetic risks but also the invasive procedure chosen for karyotyping or genotyping. Assessment of nuchal translucency identifies individual fetuses at risk of trisomy. Contrary to expectation, invasive procedures in twins appear to have procedure-related miscarriage rates that are similar to those in singletons. Instead, contamination remains a concern at chorionic villus sampling. Elective late karyotyping of fetuses may have a role in some countries. Whereas management options for discordant fetal abnormality are relatively straightforward in dichorionic pregnancies, monochorionic pregnancies are at risk of co-twin sequelae after any single intrauterine death. Techniques have now been developed to occlude completely the cord vasculature by laser and/or ultrasound guided bipolar diathermy. Given the complexities associated with prenatal diagnosis, all invasive procedures in multiple pregnancies should be performed in tertiary referral centres. Copyright 2000 Harcourt Publishers Ltd.

  17. Hemimegalencephaly: prenatal diagnosis and outcome.

    Science.gov (United States)

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

    2011-01-01

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

  18. Pai syndrome: challenging prenatal diagnosis and management

    Energy Technology Data Exchange (ETDEWEB)

    Blouet, Marie [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); University of Lower Normandie, Caen (France); Belloy, Frederique [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); Jeanne-Pasquier, Corinne [Centre Hospitalier Universitaire de Caen, Department of Pathology, Caen (France); Leporrier, Nathalie [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire de Caen, Department of Genetics, Caen (France); Benoist, Guillaume [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire, Pole Femmes-Enfants, Department of Obstetrics and Gynecology, Caen (France)

    2014-09-15

    Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome. (orig.)

  19. First trimester predictors of adverse pregnancy outcomes.

    Science.gov (United States)

    Brameld, Kate J; Dickinson, Jan E; O'Leary, Peter; Bower, Carol; Goldblatt, Jack; Hewitt, Beverley; Murch, Ashleigh; Stock, Rosanne

    2008-12-01

    To identify first trimester indicators of adverse pregnancy outcomes. Data were obtained from the statewide evaluation of first trimester screening for Down syndrome in Western Australia which included 22,695 pregnancies screened between August 2001 and October 2003. Screening data were linked with pregnancy outcome information from the Hospital Morbidity Database and the Birth Defects Registry. The odds ratios (OR) of adverse outcomes were analysed for combined risk incorporating maternal age, nuchal translucency (NT) and biochemical parameters and then separately for each parameter (pregnancy-associated plasma protein-A (PAPP-A), free beta human chorionic gonadotropin (beta-hCG) and NT). Risk assessments for first trimester combined screening are derived from maternal age, ultrasound measurement of fetal NT, maternal serum free beta-hCG and PAPP-A. Increased combined risk for Down syndrome was significantly (P beta-hCG and increased NT were less consistently associated with adverse outcomes and high levels of free beta-hCG showed limited use as an indicator. The detection rates for all outcomes other than Down syndrome were less than 40%. Biochemical indicators and NT that are measured during first trimester screening for Down syndrome show a number of associations with adverse outcomes, but do not show appropriate performance characteristics for screening tests. These data are consistent with the view that the individual components, specifically low PAPP-A levels alone, do not provide an effective screening tool for adverse pregnancy outcomes.

  20. Exercise in Pregnancy: First Trimester Risks

    DEFF Research Database (Denmark)

    Hegaard, Hanne K.; Ersbøll, Anne S; Damm, Peter

    2016-01-01

    in the first trimester and the risk of miscarriage. A systematic review based on the EMBASE and PUBMED databases was conducted and 5 studies assessing the association between early pregnancy exercise and miscarriage were identified. Diverging findings were reported making no clear conclusion possible. New...

  1. Prenatal diagnosis by chorionic villus sampling in multiple pregnancies prior to fetal reduction.

    Science.gov (United States)

    De Catte, L; Camus, M; Bonduelle, M; Liebaers, I; Foulon, W

    1998-05-01

    Ovulation induction and assisted-reproduction techniques have dramatically increased the incidence of high-risk multiple pregnancies over the past 10 years. Perinatal outcome may be improved by the use of multifetal reduction. The fetus to be reduced used to be selected only on technical grounds. We report on the results of prenatal diagnosis by chorionic villus sampling (CVS) during the first trimester in 32 multifetal pregnancies in which fetal reduction was requested. The mean gestational age at CVS was 10.5 weeks. Chromosomal analyses were available for all sampled fetuses, three of which were chromosomally abnormal. In 24 couples, fetal reduction to twin pregnancies was successfully carried out within 1 week after the CVS. In seven cases, the couples elected not to proceed with fetal reduction after receiving information that the chromosomal analysis was normal in all fetuses. Mean gestational ages at delivery were, respectively, 34.6 and 31.8 weeks in the reduced and the nonreduced groups (p = 0.04). No fetal losses occurred in either group; one neonatal death was observed after a preterm delivery because of preeclampsia in a twin pregnancy. Prenatal cytogenetic diagnosis during the first trimester in multiple pregnancies prior to fetal reduction appears to be feasible, accurate, and safe. Abnormal chromosomal results indicate the fetus(es) to be reduced. The parents' decisions not to proceed with the fetal reduction procedure, where chromosomal results in all the fetuses were normal, were unexpected.

  2. Prenatal Diagnosis of Congenital Dermal Sinus

    Directory of Open Access Journals (Sweden)

    Sharif Sakr

    2015-04-01

    Full Text Available 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.

  3. The impact of introducing combined first-trimester trisomy 21 screening in the French population.

    Science.gov (United States)

    Royère, Dominique

    2016-06-01

    French state health insurance has funded trisomy 21 prenatal screening for all pregnant women since decades. First-trimester combined screening was introduced nationally and funded in 2010. To evaluate the impact of the introduction, of a national policy of prenatal trisomy 21 first-trimester screening on the reduction of invasive prenatal diagnostic procedures. The results of all prenatal trisomy 21 screening and invasive diagnostic procedures were collected for the whole country over the period 2009-12. The screen-positive rates (risk cut-off 1 : 250, including isolated nuchal translucency ≥ 3.5 mm), positive predictive values and percentage of cases diagnosed prenatally were calculated. Over the study period the number of women undergoing serum screening (including first- and second-trimester screening tests) increased from 678 803 to 689 651 (83 to 85% of deliveries, P < 0.0001). By 2012, first-trimester combined screening accounted for 70% of all trisomy 21 screening. The screen-positive rate decreased from 9.5 to 4.8% (P < 0.001) resulting in a 37 478 (47%) drop (P < 0.001) in the number of invasive diagnostic procedures. The positive predictive value of screening increased from 2.6 to 6.1% from 2009 to 2012 (P < 0.001), due to the higher positive predictive value of first-trimester over second-trimester screening (9.1 vs. 1.8% over the period 2010-12, P < 0.001). The percentage of prenatally diagnosed cases remained high at around 80% between 2010 and 2012. The policy shift from second-trimester to first-trimester trisomy 21 screening allowed to reduce the number of invasive tests. The number of antenatal trisomy 21 diagnoses increased (+2.7%) over the study period. © The Author 2015. Published by Oxford University Press on behalf of the European Public Health Association. All rights reserved.

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

    Science.gov (United States)

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

    1991-03-01

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

  5. Leptin in first trimester pregnancy serum

    DEFF Research Database (Denmark)

    Hedley, Paula; Pihl, Kasper; Krebs, Lone

    2009-01-01

    Leptin is an adipocytokine that is also synthesized by the placenta. Leptin and its receptor, which is also expressed by the placenta, are believed to play an auto- and paracrine role in trophoblast invasion and placental development. The leptin concentration in first trimester maternal serum......, gestational age and body mass index (BMI). All were non-smokers. Leptin was measured in maternal serum in weeks 8-13 and was normalized for BMI with concentrations expressed as multiples of the median for the actual BMI. It was found that maternal serum leptin increased strongly (r = 0.7, P ... maternal BMI. There was no significant difference in maternal serum leptin concentrations between SGA and AGA pregnancies. In conclusion, SGA pregnancies are not associated with a lower maternal serum leptin concentration in first trimester. The maternal serum leptin concentration is largely determined...

  6. The use of cffDNA in fetal sex determination during the first trimester of pregnancy of female DMD carriers.

    Science.gov (United States)

    Wu, Dong; Hou, Qiaofang; Li, Tao; Chu, Yan; Guo, Qiannan; Kang, Bing; Liao, Shixiu

    2012-11-01

    Chorionic villus sampling (CVS) or amniocentesis for fetal sex determination is generally the first step in the prenatal diagnosis of X-linked genetic disorders such as Duchenne muscular dystrophy (DMD). However, non-invasive prenatal diagnostic (NIPD) techniques such as measurement of cell-free fetal DNA (cffDNA) in maternal plasma are preferable given the procedure-related miscarriage rate of CVS. We determined fetal sex during the first trimester using a quantitative real-time polymerase chain reaction (PCR) assay of cffDNA in pregnant carriers of DMD. The fetal sex was confirmed by amniocentesis karyotype analysis and multiplex ligation-dependent probe amplification (MLPA) at 16 weeks. This procedure may avoid unnecessary CVS or amniocentesis of female fetuses.

  7. Sex differentiation disorders (SDD) prenatal sonographic diagnosis, genetic and hormonal work-up.

    Science.gov (United States)

    Katorza, Eldad; Pinhas-Hamiel, Orit; Mazkereth, Ram; Gilboa, Yinon; Achiron, Reuven

    2009-09-01

    Gender is determined by the genetic, gonadal and hormonal/ phenotypic sex. Genetic sex is determined at conception. The establishment of the gonadal sex (ovary/testis) and the phenotypic sex (external and internal genitalia) is a complicated multistep process which is determined during fetal life mainly during the first trimester. Recently more genes have been found to be involved in this process. Prenatal diagnosis of fetal gender can be made using ultrasound technology, genetic and hormonal examinations. Nowadays using a vaginal and abdominal transducer for US examination recognition of external and internal genitalia of both genders is possible. The determination of gender during fetal life is important not only as a matter of curiosity; in some cases of ambiguity (for example congenital adrenal hyperplasia) prenatal treatment can change the natural history of the disease. Prenatal diagnosis can also subtype the ambiguity, and its severity can be established. In this review we describe our experience in prenatal diagnosis and establishment of the fetal gender, the subtypes of ambiguity and our suggestion for the process of diagnostic work-up.

  8. Sonographic detection of central nervous system defects in the first trimester of pregnancy.

    Science.gov (United States)

    Engels, A C; Joyeux, L; Brantner, C; De Keersmaecker, B; De Catte, L; Baud, D; Deprest, J; Van Mieghem, T

    2016-03-01

    The fetal central nervous system can already be examined in the first trimester of pregnancy. Acrania, alobar holoprosencephaly, cephaloceles, and spina bifida can confidently be diagnosed at that stage and should actively be looked for in every fetus undergoing first-trimester ultrasound. For some other conditions, such as vermian anomalies and agenesis of the corpus callosum, markers have been identified, but the diagnosis can only be confirmed in the second trimester of gestation. For these conditions, data on sensitivity and more importantly specificity and false positives are lacking, and one should therefore be aware not to falsely reassure or scare expecting parents based on first-trimester findings. This review summarizes the current knowledge of first-trimester neurosonography in the normal and abnormal fetus and gives an overview of which diseases can be diagnosed.

  9. Prenatal diagnosis of lissencephaly: A case report

    Directory of Open Access Journals (Sweden)

    Cerovac Nataša

    2016-01-01

    Full Text Available Introduction. Lissencephaly (“smooth brain” forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children. The prenatal diagnosis of this malformation is rare. Case report. We presented a case of the prenatal diagnosis of lissencephaly. A 30-year old pregnant woman was reffered to the hospital at the week 35 of gestation for magnetic resonance imaging (MRI after an ultrasound examination demonstrated fetal cerebral ventriculomegaly. Fetal MRI of the brain showed “smooth”, agyrya cortex. The female infant was born at term with birth weight of 2,500 g and Apgar score 8, showing global developmental delay. Postnatal ultrasound and MRI confirmed classical lissencephaly. She is now 8 years old and has spastic quadriparesis, mental retardation and epilepsy. Conclusion. Confirmation of the ultrasound diagnosis with MRI is desirable for the prenatal diagnosis of lissencephaly.

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

    Energy Technology Data Exchange (ETDEWEB)

    Hsu, L.Y.F. [New York Univ. School of Medicine, New York, NY (United States)

    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.

  11. First trimester serum markers to predict preeclampsia.

    Science.gov (United States)

    Huppertz, Berthold; Kawaguchi, Rie

    2012-05-01

    A variety of different biomarkers to predict preeclampsia have been identified in the last ten years. Most of these markers have been detected and quantified in maternal blood, and their potency to predict preeclampsia prior to the onset of clinical symptoms has been evaluated. The amount of such markers depends on various conditions, including the source of the marker (fetal/placental and/or maternal), the interaction of this marker with other proteins in maternal blood as well as the stability of the markers during freezing and thawing. Here we describe two of the putative early, first trimester biomarkers, placental protein 13 and placental growth factor. There is still the hope that - even in the absence of any treatment regimen today - such predictive markers will help to speed the development of a cure for preeclampsia.

  12. Expectant management of incomplete abortion in the first trimester.

    Science.gov (United States)

    Pauleta, Joana R; Clode, Nuno; Graça, Luís M

    2009-07-01

    To evaluate the effectiveness and acceptability of expectant management of induced and spontaneous first trimester incomplete abortion. A prospective observational trial, conducted between June 2006 and November 2007, of 2 groups of patients diagnosed with an incomplete abortion: 66 patients who had received misoprostol for an induced abortion (group 1) and 30 patients who had had a spontaneous abortion (group 2). Transvaginal ultrasound was performed weekly. The success rate (complete abortion without surgery), time to resolution, duration of bleeding and pelvic pain, rate of infection, number of unscheduled hospital visits, and level of satisfaction with expectant management were recorded. The incidence of complete abortion was 86.4% and 82.1% in groups 1 and 2 respectively at day 14 after diagnosis, and 100% in both groups at day 30 (two group 2 patients underwent curettage and were excluded from the analysis). Both groups reported 100% satisfaction with expectant management, although over 90% of the women reported feeling anxious. Expectant management for incomplete abortion in the first trimester after use of misoprostol or after spontaneous abortion may be practical and feasible, although it may increase anxiety associated with the impending abortion.

  13. Prenatal diagnosis of 47,XXX.

    Science.gov (United States)

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

    2005-05-01

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

  14. Assessment of thyroid function during first-trimester pregnancy: what is the rational upper limit of serum TSH during the first trimester in Chinese pregnant women?

    Science.gov (United States)

    Li, Chenyan; Shan, Zhongyan; Mao, Jinyuan; Wang, Weiwei; Xie, Xiaochen; Zhou, Weiwei; Li, Chenyang; Xu, Bin; Bi, Lihua; Meng, Tao; Du, Jianling; Zhang, Shaowei; Gao, Zhengnan; Zhang, Xiaomei; Yang, Liu; Fan, Chenling; Teng, Weiping

    2014-01-01

    Guidelines of the American Thyroid Association (ATA) proposed that the upper limit of the TSH reference range should be 2.5 mIU/L in first trimester, but the reported ranges in China are significantly higher. Our objective was to establish a rational reference range of serum TSH for diagnosis of subclinical hypothyroidism in the first trimester of pregnant women in China. We screened 4800 pregnant women in the first trimester and 2000 women who planned to become pregnant and evaluated 535 pregnant women in follow-up visits during the second and third trimester. Median concentrations of serum TSH decreased significantly from the seventh week of gestation. The median of TSH from 4 to 6 weeks was significantly higher than from 7 to 12 weeks (2.15 [0.56-5.31] mIU/L vs 1.47 [0.10-4.34] mIU/L, Pwomen (2.07 [0.69-5.64] mIU/L; P=.784). The median of free T4 was not significantly altered in the first trimester. The prevalence of subclinical hypothyroidism in the 4800 pregnant women was 27.8% on the diagnostic criteria of TSH>2.5 mIU/L and 4.0% using the reference interval derived by our laboratory (0.14-4.87 mIU/L).Additionally, of 118 pregnant women who had serum TSH>2.5 mIU/L in the first trimester, only 30.0% and 20.3% of them at the 20th and 30th week of gestation had TSH>3.0 mIU/L. The reference range for nonpregnant women can be used for the assessment of pregnant women at 4 to 6 weeks of gestation. The upper limit of serum TSH in the first trimester was much higher than 2.5 mIU/L in Chinese pregnant women.

  15. Prenatal diagnosis of arachnoid cyst

    Directory of Open Access Journals (Sweden)

    Korkut Daglar

    2016-12-01

    Full Text Available Arachnoid cysts are rare, usually benign, space-occupying central nervous system lesion. They are the results of an accumulation of cerebrospinal-like fluid between the cerebral meninges and diagnosed prenatally as a unilocular, simple, echolucent area within the fetal head. They may be primary (congenital (maldevelopment of the meninges or secondary (acquired (result of infection trauma, or hemorrhage. The primary ones typically dont communicate with the subarachnoid space whereas acquired forms usually communicate. In recent years, with the development of radiological techniques, the clinical detectability of arachnoid cysts seems to have increased. We report a case of primary arachnoid cyst that were diagnosed prenatally by using ultrasonography and magnetic resonance imaging . [Cukurova Med J 2016; 41(4.000: 792-795

  16. [Medication use during the first trimester of pregnancy: drug safety and adoption of folic acid and ferrous sulphate].

    Science.gov (United States)

    Lunardi-Maia, Tânia; Schuelter-Trevisol, Fabiana; Galato, Dayani

    2014-12-01

    To identify the profile of use of medication during the first trimester of pregnancy with emphasis on safety assessment and on the adoption of folic acid and ferrous sulfate by pregnant women attended at a Basic Health Unit in Brazil. This was a cross-sectional study nested in a cohort of pregnant women. Medications were classified according to the Anatomical Therapeutic Chemical (ATC), and their safety was evaluated according to the Food and Drug Administration (FDA) and the Brazilian Health Surveillance Agency (ANVISA). The adoption of ferrous sulfate and folic acid was investigated according to the protocol set forth by the Brazilian Ministry of Health. The survey included 212 pregnant women, 46.7% of whom were taking medications at the time of pregnancy diagnosis, and 97.6% used medication during the first trimester after diagnosis. The highest percentage of self-medication occurred before the beginning of prenatal care (64.9%). According to the FDA criteria, there was a high level of exposure to D and X risk drugs before the beginning of prenatal care (23.0%), which was also observed for drugs not recommended by ANVISA (36.5%). Of the surveyed sample, 32.5% did not follow the protocol of the Brazilian Ministry of Health. In all, 67.9% of pregnant women had inadequate drug exposure. There was a difference between the proportions of drugs used according to the ATC, and the main anatomical groups identified were the drugs that act on blood and blood-forming organs, and anti-infective medications for systemic use. When pregnancy was diagnosed, the use of a large number of medications that act on the genitourinary system and sex hormones (16.2%) was identified, such as oral contraceptives, a fact probably related to the percentage of unplanned pregnancies (67.0%), on the same occasion 4 pregnant women used folic acid and 3 used ferrous sulphate. The present results show that a large number of medications are used during pregnancy. Even if there was little exposure

  17. Medical methods for first trimester abortion.

    Science.gov (United States)

    Kulier, Regina; Kapp, Nathalie; Gülmezoglu, A Metin; Hofmeyr, G Justus; Cheng, Linan; Campana, Aldo

    2011-11-09

    Surgical abortion by vacuum aspiration or dilatation and curettage has been the method of choice for early pregnancy termination since the 1960s. Medical abortion became an alternative method of first trimester pregnancy termination with the availability of prostaglandins in the early 1970s and anti-progesterones in the 1980s. The most widely researched drugs are prostaglandins (PGs) alone, mifepristone alone, methotrexate alone, mifepristone with prostaglandins and methotrexate with prostaglandins. To compare different medical methods for first trimester abortion. The Cochrane Controlled Trials Register, MEDLINE and Popline were systematically searched. Reference lists of retrieved papers were also searched. Experts in WHO/HRP were contacted. Types of studies Randomised controlled trials comparing different medical methods for abortion during first trimester (e.g. single drug, combination) were considered. Trials were assessed and included if they had adequate concealment of allocation, randomisation procedure and follow-up. Women, pregnant during the first trimester, undergoing medical abortion were the participants. The outcomes were mortality, failure to achieve complete abortion, surgical evacuation, ongoing pregnancy at follow-up, time until passing of conceptus, blood transfusion, side effects and women's dissatisfaction with the procedure. Two reviewers independently selected trials for inclusion from the results of the search strategy described previously.The selection of trials for inclusion in the review was performed independently by two reviewers after employing the search strategy described previously. Trials under consideration were evaluated for appropriateness for inclusion and methodological quality without consideration of their results. Data were processed using Revman software. Fifty-eight trials were included in the review. The effectiveness outcomes below refer to 'failure to achieve complete abortion' with the intended method unless

  18. Ectopia cordis in a first-trimester sonographic screening program for aneuploidy.

    Science.gov (United States)

    Sepulveda, Waldo; Wong, Amy E; Simonetti, Luis; Gomez, Enrique; Dezerega, Victor; Gutierrez, Jorge

    2013-05-01

    We review the sonographic features, antenatal course, and perinatal outcomes in 7 cases of ectopia cordis diagnosed in the first trimester. Four cases were associated with a large omphalocele (pentalogy of Cantrell) and 2 with a body stalk anomaly. The remaining fetus had isolated thoracic ectopia cordis. Two pregnancies were terminated; 2 fetuses died in utero; 2 infants died after delivery; and 1 died at 3 months of age. We conclude that the diagnosis of ectopia cordis can easily be established during the first trimester. In agreement with the currently available literature, the prognosis of ectopia cordis in our series was uniformly poor.

  19. Management of first trimester miscarriage; new insight in old dilemmas

    NARCIS (Netherlands)

    Verschoor, M.A.C.

    2017-01-01

    In this thesis and the related thesis by Marike Lemmers ‘Outcomes of treatment for first trimester miscarriage’ we describe the short and long term effects of misoprostol and curettage in the treatment of first trimester miscarriage. The first part describes current practice in miscarriage treatment

  20. First-trimester vaginal bleeding and complications later in pregnancy

    DEFF Research Database (Denmark)

    Lykke, Jacob Alexander; Dideriksen, Katrine Lehrmann; Lidegaard, Øjvind

    2010-01-01

    To evaluate the association of first-trimester bleeding without miscarriage and complications later in the first pregnancy as well as in the next pregnancy.......To evaluate the association of first-trimester bleeding without miscarriage and complications later in the first pregnancy as well as in the next pregnancy....

  1. Callosal agenesis followed postnatally after prenatal diagnosis.

    Science.gov (United States)

    Imataka, George; Nakagawa, Eiji; Kuwashima, Shigeko; Watanabe, Hiroshi; Yamanouchi, Hideo; Arisaka, Osamu

    2006-09-01

    Callosal agenesis is a congenital brain anomaly caused by embryonal hypogenesis of the corpus callosum. Concerning the neurological prognosis, epilepsy and motor disturbance are noted in some cases, while many cases are asymptomatic and the prognosis is good. We report a fetus tentatively diagnosed with hydrocephaly on prenatal echo-encephalography, which was performed without adequate explanation to and understanding of the parents. The parents had not expected an abnormality before the screening, and were subsequently not psychologically prepared for the discovery of the congenital brain anomaly on imaging. Moreover, they received no guidance on how to deal with any possible abnormalities. The pregnant mother was referred to our hospital. Prenatal MRI was performed after informed consent was obtained, and the fetus was diagnosed with callosal agenesis. The patient was followed for 5 years, and neurological development was normal. However, the parents have remained anxious while raising the child. Thus, the prenatal diagnosis of callosal agenesis in this case caused unnecessary mental burden to the parents. Here, we report the course of the case, and discuss the way prenatal ultrasonography should be used as a prenatal screening method, and the importance of counseling before the test.

  2. Computed tomography assessment of peripubertal craniofacial morphology in a sheep model of binge alcohol drinking in the first trimester.

    Science.gov (United States)

    Birch, Sharla M; Lenox, Mark W; Kornegay, Joe N; Shen, Li; Ai, Huisi; Ren, Xiaowei; Goodlett, Charles R; Cudd, Tim A; Washburn, Shannon E

    2015-11-01

    Identification of facial dysmorphology is essential for the diagnosis of fetal alcohol syndrome (FAS); however, most children with fetal alcohol spectrum disorders (FASD) do not meet the dysmorphology criterion. Additional objective indicators are needed to help identify the broader spectrum of children affected by prenatal alcohol exposure. Computed tomography (CT) was used in a sheep model of prenatal binge alcohol exposure to test the hypothesis that quantitative measures of craniofacial bone volumes and linear distances could identify alcohol-exposed lambs. Pregnant sheep were randomly assigned to four groups: heavy binge alcohol, 2.5 g/kg/day (HBA); binge alcohol, 1.75 g/kg/day (BA); saline control (SC); and normal control (NC). Intravenous alcohol (BA; HBA) or saline (SC) infusions were given three consecutive days per week from gestation day 4-41, and a CT scan was performed on postnatal day 182. The volumes of eight skull bones, cranial circumference, and 19 linear measures of the face and skull were compared among treatment groups. Lambs from both alcohol groups showed significant reduction in seven of the eight skull bones and total skull bone volume, as well as cranial circumference. Alcohol exposure also decreased four of the 19 craniofacial measures. Discriminant analysis showed that alcohol-exposed and control lambs could be classified with high accuracy based on total skull bone volume, frontal, parietal, or mandibular bone volumes, cranial circumference, or interorbital distance. Total skull volume was significantly more sensitive than cranial circumference in identifying the alcohol-exposed lambs when alcohol-exposed lambs were classified using the typical FAS diagnostic cutoff of ≤10th percentile. This first demonstration of the usefulness of CT-derived craniofacial measures in a sheep model of FASD following binge-like alcohol exposure during the first trimester suggests that volumetric measurement of cranial bones may be a novel biomarker

  3. Chromosomal microarray versus karyotyping for prenatal diagnosis.

    Science.gov (United States)

    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

    2012-12-06

    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. 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. 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. 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.).

  4. Value of histopathologic examination of uterine products after first-trimester miscarriage.

    Science.gov (United States)

    Alsibiani, Sharifa Ali

    2014-01-01

    The main rationale of routine histopathologic examination of products after first-trimester miscarriages is to detect an ectopic pregnancy or a molar pregnancy, which require further management. An alternative approach is to examine the products only when there is a definite indication. As there is no agreement, we aimed to study whether routine histopathological examination of tissues obtained after first-trimester miscarriage is of any clinical value in our populations. Medical records of all (558) patients with a diagnosis of first-trimester miscarriage over 4 years (2007-2010) at King Abdulaziz University Hospital, Jeddah, Saudi Arabia, were reviewed. Histopathologic examination confirmed products of conception in 537 (96.2%) patients, no products of conception in 17 (3%) patients, molar pregnancy in 2 (0.4%) patients, and decidual tissues without chorionic villi (Arias-Stella reaction) in 2 (0.4%) patients. After clinical correlation, only one unsuspected partial molar pregnancy was diagnosed by histopathology examination. Conclusion is that it does not appear reasonable to perform histopathological examination routinely after all first-trimester miscarriages in our studied population. We recommend that histopathological examination be performed in select instances: when the diagnosis is uncertain, when fewer tissues have been obtained during surgery, when unexpected pathology was seen, when ultrasound suggests a molar pregnancy, or when patients are considered at high risk for trophoblastic disease.

  5. Confirmation of prenatal diagnosis of sex chromosome mosaicism.

    Science.gov (United States)

    McFadden, D E; Kalousek, D K

    1989-04-01

    Prenatal diagnosis of mosaicism causes problems in interpretation and in genetic counselling. Part of the difficulty with any prenatal diagnosis of mosaicism is interpretation of results without knowing the exact origin, embryonic or extraembryonic, of the abnormal cell line. To confuse the issue in cases of prenatal diagnosis of 45,X/46,XY mosaicism is the recent demonstration that a diagnosis of 45,X/46,XY made prenatally is not necessarily associated with the same phenotype as when diagnosed postnatally. We present two cases of prenatal diagnosis of sex chromosome mosaicism (45,X/46,XY and 45,X/47,XYY). Posttermination examination of the phenotypically normal male fetuses and their placentas established that the placenta was the most likely source of the 45,X cell line. An approach to confirming the prenatal diagnosis of sex chromosome mosaicism and establishing its origin utilizing detailed cytogenetic examination of both fetus and placenta is suggested.

  6. Prediction of Gestational Diabetes by Measuring First Trimester ...

    African Journals Online (AJOL)

    Prediction of Gestational Diabetes by Measuring First Trimester. Maternal Serum ... glomerular filtration rate or reduced proximal tubular. Original ... Uric acid in prediction of GDM ..... Source of Support: Nil, Conflict of Interest: None declared.

  7. Prenatal diagnosis of spina bifida: from intracranial translucency to intrauterine surgery.

    Science.gov (United States)

    Sepulveda, Waldo; Wong, Amy E; Sepulveda, Francisco; Alcalde, Juan L; Devoto, Juan C; Otayza, Felipe

    2017-07-01

    Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle ("intracranial translucency") and cisterna magna. The second step of screening is the second-trimester anatomy scan, at which time the features of the Chiari type II malformation should be looked for, including ventriculomegaly, scalloping of the frontal bones ("lemon" sign), and backward and caudal displacement of the cerebellar vermis with obliteration of the cisterna magna ("banana" sign). In cases with positive findings, evaluation must include a focused examination of the spine for defects. In cases of closed SB and SB occulta, the cranial and posterior fossa features will not be present as they are not associated with leaking of spinal fluid and resultant hindbrain herniation, highlighting the fact that the spine should be examined thoroughly whenever possible during the second-trimester scan. In tertiary fetal medicine centers, two-dimensional and three-dimensional ultrasound allows an accurate determination of the location, type, extent, and upper level of the spinal defect as well as the presence of associated anomalies. Fetal magnetic resonance imaging should be restricted to candidates for intrauterine surgery as part of the preoperative protocol.

  8. Placenta increta as an important cause of uterine mass after first-trimester Curettage (case report

    Directory of Open Access Journals (Sweden)

    Safoura Rouholamin

    2014-01-01

    Full Text Available Placenta increta during the first trimester of pregnancy is very rare. This report describes two cases of placenta increta that caused prolonged vaginal bleeding after a first-trimester abortion. We were encountered two cases of placenta increta in October 2012 and May 2013. Case I: A 35-year-old patient with continues vaginal bleeding from 2 months after curettage due to missed abortion in the first trimester. The uterus was large, the human chorionic gonadotropin (BHCG level was 112 mUI/mL and ultrasound showed an echogenic mass in the lower segment of the uterine cavity. She was a candidate for curettage but received hysterectomy because of massive vaginal bleeding. Pathology reported placenta increta. Case II: A 32-year-old patient in the 12th week of gestation with missed abortion. After 6 weeks from curettage, she returned with continues vaginal bleeding, BHCG = 55 mUI/mL and sonography showing mixed echo lesion in the uterine cavity like hydatiform mole. Total abdominal hysterectomy was performed. Pathology reported placenta increta. In patients with a history of recent first-trimester abortion presenting with prolonged vaginal bleeding, uterine mass and low-level BHCG, a diagnosis of abnormal placentaion should be kept in mind.

  9. Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Andersen, P.E. Jr.; Hauge, M.; Bang, J.

    1988-01-01

    Two cases of dyssegmental dysplasia (type Silverman-Handmaker) in siblings are presented. The first-born died at the age of 3 months and the second fetus was followed during pregnancy with ultrasound examinations. In the 20th week of gestation marked shortening of the extremities was found; a female infant showing the same radiologic bony malformations as the firstborn was born by cesarean section. These cases support the autosomal recessive inheritance and demonstrate the possibility of prenatal diagnosis in this type of micromelic dwarfism. (orig.)

  10. Mesenchymal hamartoma: prenatal diagnosis by MRI

    Energy Technology Data Exchange (ETDEWEB)

    Chu, Leysia [The Hospital for Sick Children, Department of Diagnostic Imaging, Toronto (Canada); Seed, Mike [The Hospital for Sick Children, Division of Cardiology, Department of Paediatrics, Toronto (Canada); Howse, Erica; Ryan, Greg [University of Toronto, Fetal Medicine Unit, Mount Sinai Hospital, Toronto (Canada); Grosse-Wortmann, Lars [The Hospital for Sick Children, Department of Diagnostic Imaging, Toronto (Canada); The Hospital for Sick Children, Division of Cardiology, Department of Paediatrics, Toronto (Canada)

    2011-06-15

    The clinical presentation of thoracic mesenchymal hamartomas varies from an asymptomatic chest wall mass to severe respiratory distress resulting from compression of the airways and lungs. We present the findings on fetal US and MRI of a histologically confirmed case. Following surgical resection, pathological examination corresponded to the cross-sectional imaging features with haemorrhagic, cystic and calcified components. An awareness of the characteristic imaging findings will allow accurate diagnosis of this condition, even prenatally, and thus facilitate appropriate perinatal management and surgical planning. (orig.)

  11. Prenatal Diagnosis of Non-Syndromic Congenital Heart Defects

    Science.gov (United States)

    Ailes, Elizabeth C.; Gilboa, Suzanne M.; Riehle-Colarusso, Tiffany; Johnson, Candice Y.; Hobbs, Charlotte A.; Correa, Adolfo; Honein, Margaret A.

    2015-01-01

    Objectives Congenital heart defects (CHDs) occur in nearly 1% of live births. We sought to assess factors associated with prenatal CHD diagnosis in the National Birth Defects Prevention Study (NBDPS). Methods We analyzed data from mothers with CHD-affected pregnancies from 1998–2005. Prenatal CHD diagnosis was defined as affirmative responses to questions about abnormal prenatal ultrasounds and/or fetal echocardiography obtained during a structured telephone interview. Results Fifteen percent (1,097/7,299) of women with CHD-affected pregnancies (excluding recognized syndromes and single-gene disorders) reported receiving a prenatal CHD diagnosis. Prenatal CHD diagnosis was positively associated with advanced maternal age, family history of CHD, type 1 or type 2 diabetes, twin or higher order gestation, CHD complexity and presence of extracardiac defects. Prenatal CHD diagnosis was inversely associated with maternal Hispanic race/ethnicity, prepregnancy overweight or obesity, and pre-existing hypertension. Prenatal CHD diagnosis varied by time to NBDPS interview and NBDPS study site. Conclusions Further work is warranted to identify reasons for the observed variability in maternal reports of prenatal CHD diagnosis and the extent to which differences in health literacy or health system factors such as access to specialized prenatal care and/or fetal echocardiography may account for such variability. PMID:24222433

  12. First Trimester Phthalate Exposure and Infant Birth Weight in the Infant Development and Environment Study

    Science.gov (United States)

    Sathyanarayana, Sheela; Barrett, Emily; Nguyen, Ruby; Redmon, Bruce; Haaland, Wren; Swan, Shanna H.

    2016-01-01

    Phthalate exposure is widespread among pregnant women but whether it is related to fetal growth and birth weight remains to be determined. We examined whether first trimester prenatal phthalate exposure was associated with birth weight in a pregnancy cohort study. We recruited first trimester pregnant women from 2010–2012 from four centers and analyzed mother/infant dyads who had complete urinary phthalate and birth record data (N = 753). We conducted multiple linear regression to examine if prenatal log specific gravity adjusted urinary phthalate exposure was related to birthweight in term and preterm (≤37 weeks) infants, stratified by sex. We observed a significant association between mono carboxy-isononyl phthalate (MCOP) exposure and increased birthweight in term males, 0.13 kg (95% CI 0.03, 0.23). In preterm infants, we observed a 0.49 kg (95% CI 0.09, 0.89) increase in birthweight in relation to a one log unit change in the sum of di-ethylhexyl phthalate (DEHP) metabolite concentrations in females (N = 33). In summary, we observed few associations between prenatal phthalate exposure and birthweight. Positive associations may be attributable to unresolved confounding in term infants and limited sample size in preterm infants. PMID:27669283

  13. Prenatal Sonographic Diagnosis of Acardiac Twins

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jeong Ah; Song, Mi Jin [Cheil General Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2006-09-15

    This study was performed to present the prenatal sonographic findings and the associated abnormalities of acardiac twins. Seven cases of acardiac twins were reviewed retrospectively. Prenatal ultrasonography was performed in all patients at a gestational age between 12 and 27 weeks (mean 17.6 weeks). Autopsy was performed in four cases. The sonographic and autopsy findings were reviewed to report the associated abnormalities of the acardiac and donor fetuses. The diagnosis of acardiac twins was made on the basis of ultrasonography (n=6) or autopsy (n=1). The associated abnormalities of the acardiac fetuses were single umbilical artery (SUA) (n=5), abdominal wall defect (n=4), club feet (n=4), scoliosis (n=1), cleft lip and palate (n=1), digital anomaly (n=1), and umbilical cord cyst (n=1). In four of the donor fetuses, sonographic abnormalities were found. Autopsy was performed in three of the four cases to reveal hydropic change (n=2), diaphragmatic hernia (n=1) and multiple structural abnormalities of interventricular septal defect, polydactyly, club feet and SUA (n=1). Intrauterine fetal death occurred in five donors and follow-up was lost in the remaining two. Meticulous sonography enables the diagnosis of acardiac twins at an early gestational age and can reveal the associated abnormalities of the donor fetus as well as the acardiac fetus

  14. Prenatal diagnosis of cyclopia associated to trisomy 13.

    Directory of Open Access Journals (Sweden)

    Harry Pachajoa

    2009-11-01

    Full Text Available A cyclopia case with prenatal diagnosis by two dimensional and three dimensional ecography is presented, chordocentesis was realized, the chariotype in fetal blood with G banding presented trisomy 13. Phenotypic characteristics prenatally found where confirmed with the physical examination of the newborn. A revision to the literature about cyclops associated with trisomy 13 was made, and important aspects in prenatal diagnosis were highlighted.

  15. A molar masquerading as an ectopic pregnancy in the early first trimester: a salutary lesson.

    Science.gov (United States)

    Govind, Abha; Lakhi, Nisha

    2012-01-01

    The authors report a case in which a molar pregnancy was mistaken for an ectopic pregnancy in the early first trimester. This confusion delayed diagnosis and caused distress; follow-up led to the final diagnosis of complete hydatidiform mole. Correct preoperative diagnosis of molar pregnancy by ultrasound in early pregnancy may be tricky. It is important to obtain histological evidence to make the final diagnosis of gestational trophoblastic disease. While relatively rare, consideration of molar pregnancy in the differential diagnosis of early pregnancy loss may avoid unnecessary distress.

  16. Prenatal diagnosis in women of advanced maternal age

    NARCIS (Netherlands)

    H. Brandenburg (Helen)

    1992-01-01

    textabstractIn this thesis several aspects of prenatal diagnosis in women of advanced maternal age were studied. The effects of the increasing number of elderly gravidas. the lowering of the maternal age at which prenatal diagnosis became accessible and the introduction of chorionic villus sampling,

  17. First trimester uric acid and adverse pregnancy outcomes

    Science.gov (United States)

    Laughon, S.K.; Catov, J.; Powers, R.W.; Roberts, J.M.; Gandley, R.E.

    2011-01-01

    BACKGROUND The association of elevated serum uric acid with the development of hypertension is established outside of pregnancy. We investigated whether first trimester uric acid was associated with the development of the following: gestational hypertension or preeclampsia, these outcomes stratified by presence of hyperuricemia at delivery since this denotes more severe disease, preterm birth or small for gestational age (SGA). METHODS Uric acid was measured in 1541 banked maternal plasma samples from a prior prospective cohort study that were collected at a mean gestational age of 9.0 (± 2.5) weeks. Polytomous regressions were performed and adjusted for parity and pre-pregnancy body mass index. RESULTS First trimester uric acid in the highest quartile (>3.56 mg/dL) compared to lowest three quartiles was associated with an increased risk of developing preeclampsia (adjusted OR = 1.82; 95% CI, 1.03–3.21) but not gestational hypertension. In women with hypertensive disease complicated by hyperuricemia at delivery, high first trimester uric acid was associated with a 3.22-fold increased risk of hyperuricemic gestational hypertension and a 3.65-fold increased risk of hyperuricemic preeclampsia. High first trimester uric acid was not associated with gestational hypertension or preeclampsia without hyperuricemia at delivery, preterm birth, or SGA. In women who developed hypertensive disease, elevated uric acid at delivery was only partly explained by elevated uric acid in the first trimester (r2 = .23). CONCLUSIONS First trimester elevated uric acid was associated with later preeclampsia and more strongly with preeclampsia and gestational hypertension with hyperuricemia. PMID:21252861

  18. [Huntington disease: presymptomatic testing, prenatal diagnosis, preimplantation genetic diagnosis experience].

    Science.gov (United States)

    Durr, A; Viville, S

    2007-10-01

    Presymptomatic testing for Huntington disease has been available for 15 years. The possibility of determining the genetic status of an at-risk person for the disorder which runs in his or her family raises questions because of the absence of preventive treatments. In addition, being carrier does not allow to determine when the disease starts and how it will evolve, impairing the possibilities of planning the future. A pluridisciplinary approach to predictive testing with care before, during and after the test taking into account the medical, social and psychological aspects of the disease is good practice. At the present time, only a minority of at-risk individuals request presymptomatic testing and almost 50% do not pursue until the results. The consequences of the test may be harmful, more frequently after an unfavorable than after a favorable result. Motivations and the outcome in terms of request for prenatal testing after a carrier result are known today and the number or prenatal testing remains very limited. Preimplantation genetic testing is an alternative for couples who knows or do not their own genetic status. We report our experience in two French centres: Paris for presymptomatic and prenatal testing and Strasbourg for preimplantation diagnosis.

  19. First Trimester Typhoid Fever with Vertical Transmission of Salmonella Typhi, an Intracellular Organism

    Directory of Open Access Journals (Sweden)

    Marguerite B. Vigliani

    2013-01-01

    Full Text Available We report a case in which placental abruption occurred at 16 weeks following first trimester diagnosis and treatment for typhoid fever. Unexpectedly Salmonella enterica serovar Typhi (S. Typhi was found in fetal tissues at autopsy. Using information from the murine model of typhoid fever in pregnancy, we draw parallels between S. Typhi and L. monocytogenes to develop a plausible hypothesis to explain how this organism was able to cross the placenta in the first trimester to cause abruption, inflammation, and expulsion of the fetus and placenta. We hope that this model for understanding placental infections by the hematogenous route helps to raise awareness that organisms not typically associated with TORCH infection can nevertheless cause placental infection and pregnancy loss.

  20. Body stalk anomaly complicated by ectopia cordis in the first trimester.

    Science.gov (United States)

    Y, Shibata; K, Terada; M, Igarashi; S, Suzuki

    2014-05-01

    The most serious conditions seen in body stalk anomaly may be the cases which are complicated by ectopia cordis, which is characterized by the abnormal location of the heart outside the thorax. We encountered four cases of body stalk anomaly, which were complicated by ectopia cordis, which were diagnosed in the first trimesters of pregnancy. In three of these cases, ultrasound scans revealed foetuses with large anterior abdominal wall defects, with their hearts extending outside their thoracic cavities. Their mothers, along with their husbands opted for termination of their pregnancies. In 1 other case, an ultrasound scan revealed a dead foetus, with gastroschisis. Based on the current cases, we suggest that the diagnosis of ectopia cordis caused by body stalk anomaly can be made during the first trimester of pregnancy.

  1. 全国妊娠早期母血清学筛查的室间质量评价和室内质量控制结果分析%External quality assessment and internal quality control analysis of maternal serum prenatal screening in first trimester

    Institute of Scientific and Technical Information of China (English)

    何法霖; 王薇; 钟堃; 张妍; 赵彦; 李国华; 王治国

    2015-01-01

    Objective To analyze the results of external quality assessment (EQA) and internal quality control (IQC) of first trimester maternal serum prenatal screening,and to investigate methods to improve the quality of prenatal screening.Methods Based on the reagent,laboratories which participated in the EQA project by National Center for Clinical Laboratories in May and October in 2013 were divided into PerkinElmer (PE) group (n=44) and Roche group (n=14).Five human serum quality control samples were distributed to each laboratory in every session to test free β-human chorionic gonadotropin (β-hCG) and pregnancy associated plasma protein A (PAPP-A).The M,P75 and P25 of each sample were calculated.The robust coefficient of variation (CV) was defined as [0.7413 × (P75-P25)]/M× 100%.In five samples of each EQA session,if the results of four or more samples were within the M (1± 30%),the laboratory passed the session.If the laboratory passed both sessions,the laboratory passed the EQA project of 2013.The CV of in control quality control and cumulative CV of in control quality control results in May 2013 session were gathered.Results (1) Results of EQA:The robust CVs of all samples of two sessions were 5.0%-7.2% for free β-hCG in PE group,and 9.5%-188.4% in Roche group.The robust CVs were 6.4%-116.9% for PAPP-A in PE group,and 10.5%-165.3% in Roche group.Fifty five (94.8%,55/58) laboratories passed the EQA project of 2013 for free β-hCG.Forty four (75.8%,44/58) laboratories passed the EQA project of 2013 for PAPP-A.(2) Results of IQC:Twenty eight and twenty six laboratories reported IQC results for free β-hCG and PAPP-A respectively.In eighteen (55.1%,18/28) and fourteen (50.0%,14/28) laboratories,the CV of in control quality control and cumulative CV of in control quality control results for free β-hCG were less than 5% respectively.In Fifteen (57.7%,15/26) and thirteen (50.0%,13/26) laboratories,the CV of in control quality control

  2. Prenatal diagnosis of common single gene disorders by DNA technology

    OpenAIRE

    1997-01-01

    Using the new DNA technology, it is now possible to offer prenatal diagnosis or presymptomatic testing for many genetic diseases. For prenatal diagnosis, foetal tissue is obtained y chorionic villus sampling at 9 to 11 weeks gestation or amniocentesis at 18 weeks. The programme in Hong Kong, which started in 1982, is reviewed here and now included alpha and beta thalassaemia, haemophilia A and B, Duchenne muscular dystrophy, Huntington's diseases, and spinal muscular atrophy. DNA diagnosis ca...

  3. First trimester combined screening - focus on early biochemistry

    DEFF Research Database (Denmark)

    Tørring, Niels

    2016-01-01

    First trimester combined screening (cFTS) for foetal trisomy 21 has become an established method in many countries. The screening is based on a combination of maternal-age-related risk, ultrasound (nuchal translucency) and two maternal serum biochemical markers, free beta human chorionic gonadotr...

  4. First Trimester Abortion: A Rare Cause of Intrauterine Bony Spicules

    OpenAIRE

    Anshuja Singla; Bindiya Gupta; Kiran Guleria

    2012-01-01

    Bony fragments in the uterus occur after second trimester termination of pregnancy following retained fetal bones. Very rarely, they can form following first trimester loss. Clinical symptoms range from pain, menstrual symptoms, and infertility. Ultrasound shows a hyperechoic shadow, and treatment is by curettage or hysteroscopic removal.

  5. First Trimester Abortion: A Rare Cause of Intrauterine Bony Spicules

    Directory of Open Access Journals (Sweden)

    Anshuja Singla

    2012-01-01

    Full Text Available Bony fragments in the uterus occur after second trimester termination of pregnancy following retained fetal bones. Very rarely, they can form following first trimester loss. Clinical symptoms range from pain, menstrual symptoms, and infertility. Ultrasound shows a hyperechoic shadow, and treatment is by curettage or hysteroscopic removal.

  6. First-trimester combined screening for Down syndrome

    DEFF Research Database (Denmark)

    Pihl, Kasper; Sørensen, Tina Lindvig; Nørgaard Pedersen, Bent

    2008-01-01

    OBJECTIVE: To establish the relationship between the first-trimester screening markers [pregnancy-associated plasma protein A (PAPP-A), free human chorionic gonadotrophin-beta (beta-hCG), nuchal translucency (NT)], the Down syndrome (DS) risk estimate, and the adverse outcomes such as low birth...

  7. First trimester biochemistry in pregnancies conceived using assisted reproduction techniques

    DEFF Research Database (Denmark)

    Tabor, Ann; Ekelund, Charlotte; Nørgaard, Pernille

    Objective: To examine the effects of method of conception on first trimester PAPP-A and free beta-hCG and the dependency of gestational age at the time of sampling on these effects Methods: Data on more than 100 000 spontaneously conceived and on 6 859 pregnancies conceived by assisted reproducti...

  8. First trimester biochemistry in pregnancies conceived using assisted reproduction techniques

    DEFF Research Database (Denmark)

    Tabor, Ann; Ekelund, Charlotte; Nørgaard, Pernille

    Objective: To examine the effects of method of conception on first trimester PAPP-A and free beta-hCG and the dependency of gestational age at the time of sampling on these effects Methods: Data on more than 100 000 spontaneously conceived and on 6 859 pregnancies conceived by assisted reproducti...

  9. Nasal bone in first-trimester screening for trisomy 21.

    Science.gov (United States)

    Cicero, Simona; Avgidou, Kyriaki; Rembouskos, Georgios; Kagan, Karl Oliver; Nicolaides, Kypros H

    2006-07-01

    This study was undertaken to investigate the impact of incorporating assessment of the nasal bone into first-trimester combined screening by fetal nuchal translucency (NT) thickness and maternal serum biochemistry. In this prospective combined screening study for trisomy 21, the fetal nasal bone was also examined and classified as present or absent. A multivariate approach was used to calculate patient-specific risks for trisomy 21 and the detection rate (DR) and false-positive rate (FPR) were estimated. We examined 2 screening strategies; first, integrated first-trimester screening in all patients and second, first-stage screening of all patients using fetal NT and maternal serum free beta-hCG and PAPP-A, followed by second-stage assessment of nasal bone only in those with an intermediate risk of 1 in 101 to 1 in 1000 after the first-stage. The nasal bone was absent in 113 (0.6%) of the 20,165 chromosomally or phenotypically normal fetuses and in 87 (62.1%) of the 140 fetuses with trisomy 21. With combined first-trimester NT and serum screening, the DR of 90% was achieved at a FPR of 5%. Inclusion of the nasal bone, either in all cases or in about 10% of the total in the 2-stage approach, halved the FPR to 2.5%. Inclusion of the nasal bone in first-trimester combined screening for trisomy 21 achieves a DR of 90% for a FPR of 2.5%.

  10. Medical versus surgical termination of the first trimester missed ...

    African Journals Online (AJOL)

    Alia A. Shuaib

    2012-09-29

    Sep 29, 2012 ... of the first trimester missed miscarriage may often cause a concern because of the associated com- plications. ... transfusion. The mean induction abortion time was 20.4 ± 8.3 h. ..... go labor discomfort too early. References. 1.

  11. Medical management of first trimester miscarriage according to ultrasonographic findings

    DEFF Research Database (Denmark)

    Vejborg, Thomas; Nilas, Lisbeth; Rørbye, Christina

    2007-01-01

    BACKGROUND: The efficacy of medical treatment of first trimester miscarriages may depend on the regimen used, the definition of success, clinical symptoms, and, possibly, on the ultrasonographic findings. Our primary aim was to assess if a single dose of misoprostol could reduce the number of sur...

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

    Science.gov (United States)

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

    1995-01-01

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

  13. Prenatal diagnosis of a fetus with anencephaly and thumb agenesis.

    Science.gov (United States)

    Barone, Chiara; Bartoloni, Giovanni; Cataliotti, Antonella; Indaco, Lara; Pappalardo, Elisa; Barrano, Barbara; Ettore, Giuseppe; Bianca, Sebastiano

    2012-03-01

    Severe anomalies of the forebrain together with reduction limb anomalies are a rare congenital anomalies association. We report a prenatal diagnosis of acalvaria, anencephaly and thumb agenesis in a voluntary terminated fetus and discuss the role of genetic counseling.

  14. Sirenomelia: Case Report and Discussion of its Prenatal Diagnosis

    African Journals Online (AJOL)

    KEY WORDS: Diabetes mellitus, dysmorphic lower limb, prenatal diagnosis, sirenomelia ... get any routine investigation done. ... study. In view of a congenitally anomalous fetus, tocolysis was not given and ... associated genetic predisposition.

  15. [Rare case of bilateral pulmonary agenesis and prenatal diagnosis].

    Science.gov (United States)

    Veluppillai, C; Jossic, F; Quéré, M-P; Philippe, H-J; Le Vaillant, C

    2014-01-01

    Bilateral pulmonary agenesis (BPA) is a rare congenital lung malformation. The prognosis is severe as it is incompatible with extra-uterine life. Although multiple prenatal imaging modalities are developed, the prenatal diagnosis of BPA remains problematic. We report a case of BPA observed in our unity and for which the diagnosis was not clearly identified during the evaluation. This report illustrates the need to consider all the imaging aspects and particularly during US examination suspecting BPA.

  16. Fetal cells in cervical mucus in the first trimester of pregnancy.

    Science.gov (United States)

    Cioni, Riccardo; Bussani, Cecilia; Scarselli, Benedetta; Bucciantini, Sandra; Barciulli, Francesco; Scarselli, Gianfranco

    2003-02-01

    female pregnancies, with an overall correct sex prediction in 47/71 cases (66.2%). In the DTT samples analysed by FISH, nuclei bearing XY signals were detected in 5/26 (19.2%) cases from known male pregnancies and in none from female pregnancies, the rate of correct sex prediction being 56.2% (27/48). On untreated mucus samples analysed by FISH, nuclei with XY signals were documented in 3/13 (23%) samples from male conceptuses and in none from known female pregnancies, with an overall correct sex prediction in 22/32 cases (68.7%). Fetal cells were not detected in a constant and reliable fashion in cervical mucus samples collected in the first trimester of pregnancy. The detection rate was poorly influenced by the use of different laboratory methods. This sampling technique cannot be regarded as a promising tool towards minimally invasive prenatal diagnosis. Copyright 2003 John Wiley & Sons, Ltd.

  17. Frequency Of Illicit Drug Consumption In The First Trimester Of Pregnancy (Tehran - 2001

    Directory of Open Access Journals (Sweden)

    Ramezanzadeh f

    2003-11-01

    Full Text Available Illicit drug abuse is a major area of interest for clinicians, as well as for public health and social authorities, but one of the major concerns is the illicit drug abuse during the periconceptional period and throughout pregnancy, because of its potential effects on the embryo and fetus. In this study we investigated the prevalence of illicit drug abuse in the first trimester of pregnancy in women who referred to Iran, Tehran and Shahid Beheshti universities of medical sciences, for prenatal care."nMaterials and Methods: In this descriptive cross sectional study, a non-randomized sample of 2000 pregnant women that were in their second and third trimester of their pregnancy, were interviewed about drug abuse in their first trimester. Collected data were analyzed by SPSS software."nResults: The prevalence of illicit drug abuse in the first trimester was 2.5% which the majority of these drugs were in group B. The prevalence of drug abuse was 0.9% and alcohol usage and alcohol abuse was 0.2%, cigarette smoking was the most common drug abusing phenomena. Variables such as husband education, infertility and satisfaction with pregnancy have significant relation with drug abuse."nConclusion: The results of this study support the need for continued education and this education must end in by itself to make dramatic changes in behavior. So results of this study showed that, improving education and knowledge of mothers and consultation with them in regard to risks and complications of drug abuse during pregnancy, would make dramatic changes in their behavior."n"n"n"n"n"n"n"n 

  18. Results and Pitfalls in Prenatal Cytogenetic Diagnosis

    Science.gov (United States)

    Hsu, Lillian Y. F.; Dubin, Elyse C.; Kerenyi, Thomas; Hirschhorn, Kurt

    1973-01-01

    Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results of the affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1:47,XX,+21); (2) advanced maternal age: 54 cases (1:47,XXY; 1:45,X/46,XY mosaicism; 1:47,+18); (3) previous child with multiple anomalies: 12 cases; (4) previous child with 47,XY,+18 or 47,+13: five cases; (5) translocation carrier: two cases; (6) parental mosaicism: three cases; (7) X-linked disorders: six cases (3:XY); (8) others: 24 cases. We have found firstly, that for prenatal sex determination, karyotype analysis of the cultured amniotic fluid cells is the only accurate means and that caution must be taken if sex chromatin and Y-fluorescent body determination from the uncultured amniotic fluid cells is used. Secondly, that diagnosis of chromosomal mosaicism can be problematic as exemplified by our case of 45,X/46,XY mosaicism, where only 45,X cells were recovered from the first culture. Thirdly, that in cases with enlarged satellites, cells of late prophase or early metaphase must be used to eliminate confusion with translocations. We encountered three cases of enlarged satellites—one in the D group and two in the G group—and all three resulted in normal infants. Fourthly, that the karyotype may be altered by contamination and/or treatment or other unknown factors. We have observed two such cases where each mother delivered a normal infant. Images PMID:4268389

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

    Science.gov (United States)

    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

    1979-07-07

    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

  20. Prediction of preeclampsia utilizing the first trimester screening examination.

    Science.gov (United States)

    Baschat, Ahmet A; Magder, Laurence S; Doyle, Lauren E; Atlas, Robert O; Jenkins, Chuka B; Blitzer, Miriam G

    2014-11-01

    To derive a prediction rule for preeclampsia and early onset preeclampsia requiring delivery preeclampsia and normal outcome. The prediction rule was derived by Lasso logistic regression analysis. In 2441 women, 108 (4.4%) women developed preeclampsia, and 18 (0.7%) early preeclampsia. Nulliparity, prior hypertension, diabetes, prior preeclampsia, mean arterial pressure, and the log pregnancy-associate pregnancy protein-A multiples of the median were primary risk factors. Prediction rules for preeclampsia/early preeclampsia had an area under the curve of 0.82/0.83 respectively. Preeclampsia was predicted with 49% sensitivity and early preeclampsia with 55% sensitivity for a 10% false positive rate. First trimester prediction rules using parameters currently available at first trimester screening identify a significant proportion of women with subsequent preeclampsia. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. First-trimester medical abortion practices in Canada

    Science.gov (United States)

    Guilbert, Edith R.; Hayden, Althea S.; Jones, Heidi E.; White, Katharine O’Connell; Steven Lichtenberg, E.; Paul, Maureen; Norman, Wendy V.

    2016-01-01

    Abstract Objective To understand the current availability and practice of first-trimester medical abortion (MA) in Canada. Design Using public sources and professional networks, abortion facilities across Canada were identified for a cross-sectional survey on medical and surgical abortion. English and French surveys were distributed by surface or electronic mail between July and November 2013. Setting Canada. Participants A total of 94 abortion facilities were identified. Main outcome measures Descriptive statistics on MA practice and facility and provider characteristics, as well as comparisons of MA practice by facility and provider characteristics using χ2 and t tests. Results A total of 78 of 94 (83.0%) facilities responded. Medical abortion represented 3.8% of first-trimester abortions reported (2706 of 70 860) in 2012. Among the facilities offering MA, 45.0% performed fewer than 500 first-trimester abortions a year, while 35.0% performed more than 1000. More MAs were performed in private offices or ambulatory health centres than in hospitals. Sixty-two physicians from 28 of 78 facilities reported providing first-trimester MA; 87.1% also provided surgical abortion. More than three-quarters of MA physicians were female and 56.5% were family physicians. A preponderance (85.2%) of providers offered methotrexate with misoprostol. Nearly all physicians (90.3%) required patients to have an ultrasound before MA, and 72.6% assessed the completion of the abortion with ultrasonography. Most physicians (74.2%) offered MA through 49 days after the onset of the last menstrual period, and 21.0% offered MA through 50 to 56 days; 37.1% reported providing MA to patients who lived more than 2 hours away. Four physicians from 1 site provided MA via telemedicine. Conclusion In Canada, MA provision using methotrexate and misoprostol is consistent with best-practice guidelines, but MA is rare and its availability is unevenly distributed. PMID:28192275

  2. First-trimester medical abortion practices in Canada: National survey.

    Science.gov (United States)

    Guilbert, Edith R; Hayden, Althea S; Jones, Heidi E; White, Katharine O'Connell; Steven Lichtenberg, E; Paul, Maureen; Norman, Wendy V

    2016-04-01

    To understand the current availability and practice of first-trimester medical abortion (MA) in Canada. Using public sources and professional networks, abortion facilities across Canada were identified for a cross-sectional survey on medical and surgical abortion. English and French surveys were distributed by surface or electronic mail between July and November 2013. Canada. A total of 94 abortion facilities were identified. Descriptive statistics on MA practice and facility and provider characteristics, as well as comparisons of MA practice by facility and provider characteristics using χ(2) and t tests. A total of 78 of 94 (83.0%) facilities responded. Medical abortion represented 3.8% of first-trimester abortions reported (2706 of 70 860) in 2012. Among the facilities offering MA, 45.0% performed fewer than 500 first-trimester abortions a year, while 35.0% performed more than 1000. More MAs were performed in private offices or ambulatory health centres than in hospitals. Sixty-two physicians from 28 of 78 facilities reported providing first-trimester MA; 87.1% also provided surgical abortion. More than three-quarters of MA physicians were female and 56.5% were family physicians. A preponderance (85.2%) of providers offered methotrexate with misoprostol. Nearly all physicians (90.3%) required patients to have an ultrasound before MA, and 72.6% assessed the completion of the abortion with ultrasonography. Most physicians (74.2%) offered MA through 49 days after the onset of the last menstrual period, and 21.0% offered MA through 50 to 56 days; 37.1% reported providing MA to patients who lived more than 2 hours away. Four physicians from 1 site provided MA via telemedicine. In Canada, MA provision using methotrexate and misoprostol is consistent with best-practice guidelines, but MA is rare and its availability is unevenly distributed. Copyright© the College of Family Physicians of Canada.

  3. Thrombotic thrombocytopenic purpura in the first trimester of pregnancy

    Directory of Open Access Journals (Sweden)

    Pooja Sikka

    2013-01-01

    Full Text Available Thrombotic thrombocytopenic purpura (TTP occurs more commonly in women and so can be associated with pregnancy. The time during pregnancy with greatest risk for development of TTP is near term and during the post partum period. TTP occurring in early trimester is uncommon and is also associated with great maternal and fetal mortality. We report a successful outcome of pregnancy in a woman with TTP in early first trimester who was treated with therapeutic plasma exchange.

  4. Termination of pregnancy after prenatal diagnosis of spina bifida: a German perspective.

    Science.gov (United States)

    Domröse, Christian M; Bremer, Sandra; Buczek, Caroline; Geipel, Annegret; Berg, Christoph; Gembruch, Ulrich; Willruth, Arne

    2016-10-01

    To analyze fetal cases with spina bifida undergoing termination of pregnancy according to chromosomal analysis and further diagnosed sonographic findings. Retrospective analysis of cases with spina bifida leading to termination of pregnancy in a tertiary referral center from 2002 to 2011. In the study period, 246 cases of spina bifida were diagnosed in our center and 157 parents chose termination of pregnancy. The time of diagnosis was on average 2 days before the first presentation at our department (22 + 3, range: 12 + 3 - 33 + 3 weeks of gestation). Among 157 pregnancies with spina bifida and termination of pregnancy, further malformations could be detected in 46 (29.3 %) cases. An abnormal karyotype could be found in 13 (18.1 %). Severe ventriculomegaly or mild/moderate ventriculomegaly was present in 109 (69.4 %) and 29 (18.5 %) of the cases, respectively, while banana sign was detectable in 153 cases (97.5 %). In the majority, the upper lesion level was lumbar (71.3 %). In 67 cases (42.7 %), termination of pregnancy took place in or after the 24th week of gestation. Direct and indirect signs of spina bifida were detectable in nearly all cases independent of the gestational age. Therefore, the diagnosis could have been made in all cases with late termination. Implementation of a uniform prenatal care including first-trimester scan with potential signs for open spina bifida and second-trimester anomaly scan with indirect intracranial findings and direct detection of spinal lesion could lead to an earlier diagnosis and help to reduce late termination of pregnancy in neural tube defects.

  5. [Current indications for invasive prenatal diagnosis. New proposals based on the experience of Institute Nacional de Perinatología].

    Science.gov (United States)

    Fernández-Hernández, Liliana; Domínguez-Castro, Mauricio; Ibañez-Salvador, Juan Carlos; Grether-González, Patricia; Aguinaga-Ríos, Mónica

    2013-08-01

    Invasive prenatal diagnosis (IPD) allows identification of fetal diseases, mainly aneuploidy. With the addition of first-trimester prenatal screening and structural ultrasound, IPD indications have changed. To describe the current indications for IPD in pregnant patients at INPer. Descriptive and retrospective study. We reviewed medical records of patients in which IPD was performed during a period of 2.5 years. A total of 339 studies were performed: 81% by amniocentesis (AC), 13% by chorionic villus sampling (CVS) and 6% by cordocentesis or somatocentesis. The most common indications for AC were: advanced maternal age (AMA) (43%), fetuses with multiple defects by ultrasonido (23%) and presence of soft markers for aneuploidies (9%). For CVS were: cystic hygroma (24%). Increased nuchal translucency (NT) (24%), and AMA (18%). When the indication was only AMA, 1.5% of fetus presented aneuploidy. In women under 38 years and normal ultrasoud, chromosomal abnormalities were not detected. The increased NT in women 35 years it increased to 33%. We observed that the group who had normal translucencia nucal and AMA presented a low risk of chromosomal abnormalities. In the presence of an increased NT, 33% of fetuses were affected, so that measuring TN is considered the best non invasive PD tool. The average age with cytogenetic abnormalities was above 38 years, so we suggest to offer IPD in women above 38 years-old.

  6. Ultrasound prenatal diagnosis of congenital primary aphakia: case report

    Science.gov (United States)

    Di Meglio, Filippo; Vascone, Carmine; Di Meglio, Letizia; Turco, Luigi Carlo Lo; Vitale, Salvatore Giovanni; Cignini, Pietro; Valenti, Gaetano; Gulino, Ferdinando Antonio; Rapisarda, Agnese Maria Chiara; Cianci, Stefano

    2015-01-01

    Introduction the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype. Case report we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential. Conclusion a differential diagnosis between aphakia and anophtalmia is necessary. A TORCH complex evaluation can be useful. Amniocentesis is always required. PMID:26918094

  7. Genetic Considerations in the Prenatal Diagnosis of Overgrowth Syndromes

    Science.gov (United States)

    Vora, Neeta; Bianchi, Diana W.

    2015-01-01

    Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks. PMID:19609940

  8. Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.

    Science.gov (United States)

    Victorine, Anna S; Weida, Jennifer; Hines, Karrie A; Robinson, Barrett; Torres-Martinez, Wilfredo; Weaver, David D

    2014-03-01

    Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver. These findings were first noted by prenatal ultrasound and may assist in prenatally diagnosing additional cases of Carpenter syndrome.

  9. review of chorionic villus sampling in prenatal diagnosis

    African Journals Online (AJOL)

    countries, chorionic villus sampling is the procedure of choice for prenatal diagnosis with the principal advantage over others, ... these technological advances and facilitated an easier diagnosis .... CVS is a surgical procedure with both surgical and laboratory ... easy by the combined effect of xylocaine infiltration and verbal.

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

    Science.gov (United States)

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

    2013-01-01

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

  11. First-trimester septated cystic hygroma and cavum velum interpositum cyst.

    Science.gov (United States)

    Sherer, David M; Dalloul, Mudar; Miller, Michelle J; Kheyman, Mila; Zinn, Harry L; Abulafia, Ovadia

    2011-07-01

    First-trimester septated cystic hygroma, frequently noted during general obstetric first-trimester screening, is strongly associated with fetal aneuploidy and structural anomalies and is considered an ominous finding. We present the case of a fetus with a first-trimester septated cystic hygroma and cavum velum interpositum cyst.

  12. First trimester Down's syndrome screening - pregnant women's knowledge

    DEFF Research Database (Denmark)

    Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener

    2011-01-01

    OBJECTIVES: The primary aim of this study was to assess pregnant women's knowledge of first trimester combined Down's syndrome screening in a setting of required informed consent. Secondary, we wanted to identify relevant differences in knowledge level among subgroups of pregnant women, including...... of adverse findings other than Down's syndrome. Knowledge level was positively associated with length of education (adjusted ORs 1.0 (0.8-1.4) to 3.9 (2.4-6.4)) and participation in the screening programme (adjusted OR 0.9 (0.6-1.3) to 5.9 (3.9-8.8)). Participation in an individual information session...

  13. Pancytopenia in the first trimester: An indicator of hidden hyperthyroidism.

    Science.gov (United States)

    Imai, Ken; Ohkuchi, Akihide; Nagayama, Shiho; Saito, Shinsuke; Matsubara, Shigeki; Suzuki, Mitsuaki

    2015-12-01

    Pancytopenia in the first trimester is very rare. A 33-year-old multiparous woman presented with nausea, loss of appetite, and bodyweight loss of 7.4 kg at 9(1/7) weeks of gestation due to hyperemesis gravidarum. Her laboratory data demonstrated pancytopenia involving white blood cell count of 3500/μL, a hemoglobin level of 9.8 g/dL, and a platelet count of 10.5 × 10(4)/μL. An extensive investigation into the causes of the pancytopenia detected true hyperthyroidism: thyroid-stimulating hormone, hyperthyroidism. © 2015 Japan Society of Obstetrics and Gynecology.

  14. Prenatal Diagnosis, Fetal Surgery, Recurrence Risk and Differential Diagnosis of Neural Tube Defects

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-09-01

    Full Text Available Prenatal screening with α-fetoprotein (AFP and ultrasonography have allowed the prenatal diagnosis of neural tube defects (NTDs in current obstetric care, and open spina bifida has been considered a potential candidate for in utero treatment in modern pediatric surgery. This article provides an overview of maternal serum AFP screening, amniotic fluid AFP assays, amniotic fluid acetylcholinesterase immunoassays and level II ultrasound for NTDs, prenatal repair of fetal myelomeningocele, recurrence risk of NTDs, and differential diagnosis of NTDs on prenatal ultrasound.

  15. The effect of a 'vanishing twin' on biochemical and ultrasound first trimester screening markers for Down's syndrome in pregnancies conceived by assisted reproductive technology

    DEFF Research Database (Denmark)

    Gjerris, A C; Loft, A; Pinborg, Anja

    2008-01-01

    . The presence of a perished embryo may further complicate prenatal screening among women pregnant after ART. The aim of this study was to assess the impact of a 'vanishing twin' on first trimester combined biochemical and ultrasound screening in pregnancies conceived after IVF and intracytoplasmatic sperm...... injection. METHODS: From a national prospective cohort study concerning first trimester combined screening among women pregnant after ART, 56 cases of pregnancies with a vanishing twin were identified. As control group 897 cases of ART singleton pregnancies were used. All women completed a first trimester......) or late vanishing twin (gestational week 9-13, LVT) or singleton pregnancies (0.98, 1.13 and 0.95 for free beta-hCG and 0.84, 0.80 and 0.74 for PAPP-A, respectively). Likewise, no difference was seen for NT measurements. The gestational age at the time of blood sampling and NT scan was similar...

  16. Prenatal diagnosis of cystic fibrosis: 10-years experience.

    Science.gov (United States)

    Hadj Fredj, S; Ouali, F; Siala, H; Bibi, A; Othmani, R; Dakhlaoui, B; Zouari, F; Messaoud, T

    2015-06-01

    We present in this study our 10years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population. Based on family history, 40 Tunisian couples were selected for prenatal diagnosis. Fetal DNA was isolated from amniotic fluid collected by transabdominal amniocentesis or from chronic villi by transcervical chorionic villus sampling. The genetic analysis for cystic fibrosis mutations was performed by denaturant gradient gel electrophoresis and denaturing high-pressure liquid phase chromatography. We performed microsatellites analysis by capillary electrophoresis in order to verify the absence of maternal cell contamination. Thirteen fetuses were affected, 21 were heterozygous carriers and 15 were healthy with two normal alleles of CFTR gene. Ten couples opted for therapeutic abortion. The microsatellites genotyping showed the absence of contamination of the fetal DNA by maternal DNA in 93.75%. Our diagnostic strategy provides rapid and reliable prenatal diagnosis at risk families of cystic fibrosis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  17. Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

    LENUS (Irish Health Repository)

    Dempsey, M A

    2010-03-01

    An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

  18. Prenatal screening for congenital malformations: diagnosis and ...

    African Journals Online (AJOL)

    care of the pregnancy in terms of antenatal care, and referral for birth as ... photographed and only represent a proportion of all the malformed ... KEY WORDS: foetal malformafion, newborn deaths, prenatal care, pregnancy terminafion. Figure 1. Case 1 ... multiple methods, including ultrasound, are combined to make a ...

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

    Science.gov (United States)

    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.

  20. Prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46xx der 21 t(21q;22q with pericentric inversion of chromosome 9.

    Directory of Open Access Journals (Sweden)

    Parmar R

    2003-01-01

    Full Text Available This communication reports prenatal diagnosis of partial trisomy 21 resulting from balanced translocation (21q;22q in a 36-year-old gravida 7, para 1 woman. The lady had only one living child and there was history of recurrent spontaneous first trimester abortions. Triple test was abnormal in the present conception. In addition, the woman had pericentric inversion of chromosome 9, a finding scarcely reported previously with carrier status in Indian literature. A few cytogeneticists consider this as a normal variant. However, many reports in the recent literature link pericentric inversion of chromosome 9 with infertility, recurrent abortions and a number of other abnormal conditions. A review of the relevant literature pertinent to the case is provided.

  1. First Trimester Cystic Hygroma : Ultrasonographic Findings and Significance

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young Hwa [Chunan Hospital, Soonchunhyang University College of Medicine, Cheonan (Korea, Republic of)

    1996-12-15

    To evaluate the ultrasonographic findings and the outcome of the cystic hygroma diagnosed in the first trimester of pregnancy. Eleven fetuses with cystic hygroma were found on routine antenatal trans vaginal ultrasonography. Nine fetuses had karyotyping. All of the continued pregnancies had detailed-ultrasonographic follow-up and postnatal physical examination. The thickness of the nuchaltranslucency was 3{approx}8 mm. Seperation was seen in 3 of 11 cases. 10 cases showed nuchal translucency in dorsalaspect and 1 showed lateral extension. Aneuploidy was found in 2 (Trisomy 21, Triploidy XXY) of 9 cases, which was 22.2%. Among 7 euploid cases, one was spontaneously aborted and one was terminated due to cystic hygroma and bilateral polycystic kidney. Nuchal thickening in the second trimester was found in 3 of 7 cases. One of 7delivered cases showed hemangioma in the cheek and 6 case showed normal on physical examination. If fetal cystic hygroma is suspected in the first trimester, antenatal karyotyping should be done, and detailed-ultrasonographic examination and postnatal physical examination should be recommended for possible associated anomaly even if the karyotype is normal

  2. Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L. [Singapore General Hospital (Singapore). Depts. of Diagnostic Radiology, Obstetrics and Gynecology and Neonatology

    2005-10-01

    We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound.

  3. Prenatal diagnosis of bilateral pulmonary agenesis: a case report.

    Science.gov (United States)

    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Jieun; Seo, Jeong-Wook

    2010-01-01

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

  4. Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Ji Eun; Seo, Jeong Wook [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2010-02-15

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

  5. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

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    Esther Perez-Carbajo

    2015-01-01

    Full Text Available 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.

  6. PRENATAL DIAGNOSIS AND SCREENING OF GENETIC ABNORMALITIES IN EARLY PREGNANCY

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    Jyothi Kiran Kohli

    2016-11-01

    Full Text Available BACKGROUND Genetic diseases are one of the major causes of hospital admissions due to disability and mortality particularly among children (1:5 children of hospital admission either partially/completely as distribution of genetic diseases is not related to socioeconomic background, which implies that developing world has a large number of genetic diseases largely left uncared for, i.e. overall incidence of foetal/neonatal loss due to genetic/genetic environmental causes are as follows: 1:50 newborns have major congenital abnormality, 1:100 have a unifactorial disorder, 1:200 have a major chromosomal abnormality before birth. Diagnosis of chromosomal anomalies in foetus is one of the most important challenges in modern perinatology as invasive or noninvasive methods. The aim of the study is to review on cytogenetic evaluation of CVS obtained (transcervically during first trimester of pregnancy by direct karyotyping of tissue. MATERIALS AND METHODS This study was conducted in 2001 in Department of Anatomy along with Obstetrics and Gynaecology Department, LNJP Hospital. 37 healthy cases with 6-12 weeks of gestational age coming for medical termination of pregnancy were included in the study. After written informed consent for procedure, ultrasound-guided transcervical chorionic villus sampling was done (Brambati’s method. Tissue procured was then processed for direct karyotyping and studied. Metaphase spreads were photographed and karyotypes prepared and studied. RESULTS Out of 37 pregnant females, 30 samples were successfully prepared and processed by Direct method out of which 23 were normal female (46, XX and 7 were normal male (46, XY. No normal anomaly was detected. Best biopsies were obtained with 8-12 weeks gestation. G Banding could not be performed as chromosome obtained were found to be resistant to banding. CONCLUSIONS To summarise chromosome preparations obtained from CVS by Direct method has advantage of providing sufficient number

  7. Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population.

    Science.gov (United States)

    Padula, Francesco; Cignini, Pietro; Giannarelli, Diana; Brizzi, Cristiana; Coco, Claudio; D'Emidio, Laura; Giorgio, Elsa; Giorlandino, Maurizio; Mangiafico, Lucia; Mastrandrea, Marialuisa; Milite, Vincenzo; Mobili, Luisa; Nanni, Cinzia; Raffio, Raffaella; Taramanni, Cinzia; Vigna, Roberto; Mesoraca, Alvaro; Bizzoco, Domenico; Gabrielli, Ivan; Di Giacomo, Gianluca; Barone, Maria Antonietta; Cima, Antonella; Giorlandino, Francesca Romana; Emili, Sabrina; Cupellaro, Marina; Giorlandino, Claudio

    2014-01-01

    to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected Italian population referred to a specialized private center for prenatal medicine. a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum parameters (free β-hCG and PAPP-A) alone and a combination of both] for fetal aneuploidies evaluated in an unselected Italian population at Artemisia Fetal-Maternal Medical Centre in Rome. All measurements were performed between 11(+0) and 13(+6) weeks of gestation, between April 2007 and December 2008. of 3,610 single fetuses included in the study, we had a complete follow-up on 2,984. Fourteen of 17 cases of trisomy 21 were detected when a cut-off of 1:300 was applied [detection rate (DR) 82.4%, 95% confidence interval (CI) 64.2-100; false-positive rate (FPR) 4.7%, 95% CI 3.9-5.4; false-negative rate (FNR) 17.6%, 95% CI 0-35.8%]. in our study population the detection rate for trisomy 21, using the combined risk calculation based on maternal age, fetal NT, maternal PAPP-A and free β-hCG levels, was superior to the application of either parameter alone. The algorithm has been validated for first trimester screening in the Italian population.

  8. Screening performance for trisomy 21 comparing first trimester combined screening and a first trimester contingent screening protocol including ductus venosus and tricuspid flow

    DEFF Research Database (Denmark)

    Ekelund, Charlotte Kvist; Petersen, Olav Bjørn; Sundberg, Karin Milner

    2012-01-01

    To compare the standard first trimester combined risk assessment for trisomy 21 with a contingent screening protocol including tricuspid flow and ductus venosus flow.......To compare the standard first trimester combined risk assessment for trisomy 21 with a contingent screening protocol including tricuspid flow and ductus venosus flow....

  9. Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

    DEFF Research Database (Denmark)

    Winding, Louise; Loane, Maria; Wellesley, Diana;

    2014-01-01

    OBJECTIVES: The aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). METHODS: The study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997...

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

    Science.gov (United States)

    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…

  11. Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

    NARCIS (Netherlands)

    Winding, Louise; Loane, Maria; Wellesley, Diana; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian K.; Bianchi, Fabrizio; Calzolari, Elisa; Gatt, Miriam; Haeusler, Martin; Lelong, Nathalie; Mullaney, Carmel; Scarano, Gioacchino; Tucker, David; Wiesel, Awi; Garne, Ester

    2014-01-01

    ObjectivesThe aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). MethodsThe study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997-2006 and

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

    Science.gov (United States)

    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…

  13. Sonographic features of placenta accreta after first-trimester abortion.

    Science.gov (United States)

    Li, Ping; Zheng, Qichao; Xiong, Bin; Cai, Hongbing

    2013-08-01

    We assessed 5 patients with histologically/clinically confirmed placenta accreta after first-trimester abortion. In 4 patients, sonography showed an unclear endometrium, absence of an endometrium-myometrium interface, a well-vascularized hyperechoic lesion in the uterine body with a low resistive index, and myometrial thinning near the lesion. In 2 patients, contrast-enhanced sonography showed rapid irregular lesion enhancement. Chemotherapy reduced the lesions in 3 patients, and a decreased blood supply increased the resistive index in all lesions. Two patients each underwent hysterectomy and uterine curettage. The fifth patient had a cervical pregnancy; sonography showed a well-vascularized hyperechoic lesion in an enlarged cervix. Methotrexate gradually reduced this lesion. Sonography, especially contrast-enhanced sonography, can detect placenta accreta and guide treatment.

  14. Pallister-Killian syndrome: difficulties of prenatal diagnosis.

    Science.gov (United States)

    Doray, Bérénice; Girard-Lemaire, Françoise; Gasser, Bernard; Baldauf, Jean-Jacques; De Geeter, Bernard; Spizzo, Michèle; Zeidan, Charles; Flori, Elisabeth

    2002-06-01

    The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult. Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent. The mosaic distribution of the supernumerary isochromosome 12p greatly increases these difficulties. No prenatal cytogenetic technique is sensitive enough to ensure prenatal diagnosis and false-negative results have been described on fetal blood, chorionic villi and amniocentesis. We report here two prenatal cases of PKS which illustrate the great variability of the fetal phenotype. In reviewing the 63 reported cases, we attempt to determine ultrasound indicators of the syndrome and to define a cytogenetic strategy. In cases where ultrasound indicators are present, our proposal is first to perform chorionic villus or placental sampling and then amniocentesis when the first cytogenetic result is normal. Fetal blood sampling is the least indicated method because of the low frequency of the isochromosome in lymphocytes. In this cytogenetic strategy, fluorescent in situ hybridization (FISH) and especially interphase FISH on non-cultured cells increases the probability or identifying the isochromosome. A misdiagnosis remains possible when ultrasound is not contributory; the identification of new discriminating ultrasound indicators would be very helpful in this context.

  15. The results of cytogenetic analyses in prenatal diagnosis

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    Jovanović-Privrodski Jadranka

    2007-01-01

    Full Text Available Introduction. G-banding and other classical cytogenetic methods are still in use, together with molecular cytogenetic techniques such as FISH (Fluorescence In Situ Hybridization and SKY (Spectral Karyotyping. Material and methods. This retrospective study evaluated clinical data on individuaols seeking genetic counseling over a 15-year period (1992 - 2007 at the Medical Genetic Center, Child and Youth Health Care Institute of Vojvodina in Novi Sad. The study included 37.191 genetic counselings, and 20.607 prenatal analyses (amniocentesis and cordocentesis. Results Over a 15-year period (1992 - 2007 17.937 amniotic fluid samples were analyzed and 274 abnormal karyotypes were found; out of 2.670 fetal blood samples, there were 78 abnormal karyotypes. During a 15-year period, prenatal diagnosis, using amniocentesis and/or cordocentesis, showed 352 fetuses with chromosomal aberrations. Discussion. On average, over the past 15-year period, 8% of pregnancies were controlled with invasive prenatal procedures. The percentage has changed; in fact, it is increasing from year to year. In 1992, only 0.82% (N=139/17000 of pregnant women in Vojvodina underwent invasive prenatal procedures, and in 2006 the rate increased to 15.65% (N=2660/17000. Conclusion. It is necessary to improve and promote the possibilities of genetic counseling and invasive prenatal diagnosis in order to prevent the occurrence of chromosomal aberrations and other genetic diseases.

  16. Mosaicism and uniparental disomy in prenatal diagnosis.

    Science.gov (United States)

    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.

  17. NON-INVASIVE PRENATAL DIAGNOSIS: A REVIEW

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    Madhusudan Dey, Sumita Agarwal and Sumedha Sharma

    2013-04-01

    Full Text Available ABSTRACT: Aneuploidies are one of the important causes of perinatal morbidity and mortality. Initially screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high risk for aneuploidies were offered invasive testing. Recently, various methods including non-invasive prenatal testing (NIPT by analysis of cell-free fetal DNA (cffDNA in maternal blood has shown promise for highly accurate detection of common fetal autosomal trisomies. Incorporating these new non-invasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counselling plays an integral role. The advantage of the technique being elimination of risks such as miscarriage associated with invasive diagnostic procedures. But then this new technique has its own set of technical limitations and ethical issues at present and further research is required before implementation. Data was obtained through a literature search via Pubmed and Google as well as detailed search of our library database.

  18. Prenatal sonographic diagnosis of Aarskog syndrome.

    Science.gov (United States)

    Sepulveda, W; Dezerega, V; Horvath, E; Aracena, M

    1999-10-01

    In 1970, Aarskog described a rare X-linked developmental disorder characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia (faciodigitogenital syndrome). The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak hair anomaly, and ocular and ear anomalies. Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints, and flat broad feet with bulbous toes. Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected patients have normal intelligence, but some authors have noted mild neurodevelopmental delay in up to 30% of the cases. We describe a case of Aarskog syndrome diagnosed prenatally by sonography at 28 weeks' gestation in a high-risk pregnancy for this disorder.

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

    Science.gov (United States)

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

    2012-10-01

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

  20. [Cystic adenomatoid malformation of the lung. Importance of prenatal diagnosis].

    Science.gov (United States)

    Cabeza, Beatriz; Oñoro, Gonzalo; Cantarín Extremera, Verónica; Sanz Santiago, Verónica; Sequeiros, Adolfo

    2011-04-01

    Cystic adenomatoid malformation of the lung is a rare malformation of the lung airway which often performed diagnosed in the prenatal period by ultrasound. Ultrasound monitoring should be performed during pregnancy to assess lung development. We report the case of a 4-year-old patient with prenatal diagnosis of cystic adenomatoid malformation of the lung, not confirmed by chest radiograph at birth. The patient underwent surgery at 4 years of age after diagnosis was made for presenting recurrent pneumonia. A normal chest radiograph at birth does not exclude this malformation and a computerized tomography at 4 weeks of birth must be done to confirm or rule out this anomaly. Once the diagnosis is made, surgical treatment should be prompted to avoid complications.

  1. Prenatal diagnosis of Werdnig-Hoffmann disease in China

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    Objective To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA. Methods Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.Results The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.Conclusion This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.

  2. Asymptomatic pyuria in pregnant women during the first trimester is associated with an increased risk of adverse obstetrical outcomes.

    Science.gov (United States)

    Lai, Yun-Ju; Hsu, Te-Yao; Lan, Kuo-Chung; Lin, Hao; Ou, Chia-Yu; Fu, Hung-Chun; Tsai, Ching-Chang

    2017-04-01

    Urinalysis is included in the prenatal examination in the first trimester in Taiwan, in contrast to Western countries. We aimed to investigate whether asymptomatic pyuria as detected by urinalysis was associated with adverse perinatal outcomes. A total of 1187 singleton pregnant women who received prenatal care at Kaohsiung Chang Gung Memorial Hospital between January 2012 and December 2013 were included for retrospective analysis. We defined asymptomatic pyuria as the presence of 15 or more white blood cells/μL in midstream urine without symptoms. Adverse perinatal outcomes including preterm delivery, preterm premature rupture of membrane, low birth weight, and Apgar scores were analyzed. Univariate and multivariate logistic regression analyses were used to identify independent predictors. The prevalence of asymptomatic pyuria was 21.3% in our cohort. Univariate analysis showed that pyuria was the only factor associated with preterm delivery before 36 weeks of pregnancy, preterm premature rupture of membrane, and low birth weight. In multivariate analysis, both pyuria (odds ratio: 4.89, 95% confidence interval: 1.80-13.25, p=0.002) and a maternal age of 35 years or older (odds ratio: 3.46, 95% confidence interval: 1.11-10.78, p=0.033) were significant independent predictors for a low 5 minute Apgar score (<7). The identification of asymptomatic pyuria via urinalysis in the first trimester may be a predictor for adverse perinatal outcomes. Copyright © 2017. Published by Elsevier B.V.

  3. Prenatal diagnosis of horseshoe lung: contribution of MRI

    Energy Technology Data Exchange (ETDEWEB)

    Tilea, Bogdana; Garel, Catherine; Sebag, Guy [Hopital Robert Debre, Department of Paediatric Imaging, Paris (France); Delezoide, Anne-Lise [Hopital Robert Debre, Department of Developmental Biology, Paris (France); Vuillard, Edith; Oury, Jean-Francois [Hopital Robert Debre, Department of Obstetrics and Gynaecology, Paris (France); Azancot, Annabelle [Hopital Robert Debre, Department of Fetal Cardiology, Paris (France)

    2005-10-01

    Horseshoe lung is a very rare pulmonary anomaly that is characterized by an isthmus of lung parenchyma bridging the right and left lungs and extending through the mediastinum. We report on the prenatal diagnosis of such a malformation in a 33-week-gestation fetus. The diagnosis was initially suspected on antenatal ultrasonography performed at 33 weeks and confirmed by fetal MRI and subsequent pathological examination after termination of pregnancy. To our knowledge, this is the first reported case of antenatal diagnosis of horseshoe lung. (orig.)

  4. OUTCOME OF PREGNANCIES HAVING BLEEDING PERVAGINA IN THE FIRST TRIMESTER

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    Sukhamoy Barik

    2016-07-01

    Full Text Available BACKGROUND Vaginal bleeding in early weeks being one of the frequent occurrence, about 20-25% of all pregnancies and have a lot of attention during the last few decades as a predictor of subsequent foetal outcome. In those pregnancies which continue, there is increased incidence of later problems including preterm labour/delivery, Low Birth Weight (LBW, gestational hypertension/Pregnancy Induced Hypertension (PIH, Intrauterine Foetal Death (IUFD, etc. AIMS To evaluate the pregnancy outcome (Both maternal and foetal among groups of patients having bleeding per vagina in the first trimester. SETTING Tertiary level hospital. STUDY DESIGN A hospital-based observational comparative study. METHOD AND MATERIAL In this study, total 200 patients (100 in study group and 100 in control group were taken from September 2009 to August 2010. Out of this 200, 6 patients in study group and 5 patients in control group lost during followup. So, finally 94 patients in study group and 95 patients in control group were critically compared. RESULT In this study mothers who had history of bleeding in 1st trimester, 28.72% had miscarriage, whereas in control group it was 11.57%. 65.95% of women who bleed in 1st trimester continued their pregnancy beyond 28 weeks, which is statistically significant when compared with control group. Incidence of APH (13.82% was also found statistically significant. 15.95% babies were found suffering from IUGR when compared with control group, which was 7.36%. Incidence of vaginal delivery in study group was significantly less when compared with control group. We also found that women who bleed in 1st trimester 3.19% turn out to be ectopic pregnancy, 2.12% were molar pregnancy. No significance was noted in the study group in respect to placenta previa, PROM, PIH, CS delivery. The neonatal morbidity and mortality were also found not significant when compared to control group. CONCLUSION Pregnancies continuing following vaginal bleeding in

  5. The introduction of first trimester medical abortion in Armenia.

    Science.gov (United States)

    Louie, Karmen S; Chong, Erica; Tsereteli, Tamar; Avagyan, Gayane; Vardanyan, Susanna; Winikoff, Beverly

    2015-02-01

    In Armenia, abortion is the main means of fertility regulation; however, before research activities were initiated only surgical methods were available and the quality of services was low in some areas. Our clinical study from 2008-2011 aimed to show that early medical abortion is an acceptable and feasible option. A total of 700 eligible women with pregnancies up to 63 days LMP presenting for abortion were recruited for the study in five locations. Participants took 200 mg mifepristone and 800 μg buccal misoprostol 24-48 hours later. They returned for a follow-up visit two weeks after mifepristone administration. 95% of the women had successful abortions and 95% were satisfied with the method. In 2012-2013, we conducted a follow-up assessment to examine the ongoing provision and quality of medical abortion services at the former research sites. Medical record reviews, interviews and observations were carried out three times approximately six months apart. The assessment found that all five sites had continued providing medical abortion, with about half of eligible women choosing the medical method. Four of the five sites were achieving high success rates. Staff turnover and the lack of trained providers likely contributed to the higher failure rate at the fifth site. These findings provide evidence that first trimester medical abortion is an acceptable and feasible option for Armenian women and providers, and that high quality services are being delivered. Copyright © 2015 Reproductive Health Matters. Published by Elsevier Ltd. All rights reserved.

  6. Relationships among Constitution, Stress, and Discomfort in the First Trimester

    Directory of Open Access Journals (Sweden)

    Hsiao-Ling Wang

    2012-01-01

    trimester of pregnancy. We adopted a descriptive and correlational research design and collected data from 261 pregnant women during their first trimester in southern Taiwan using structured questionnaires. Results showed that (1 stress was significantly and positively correlated with Yang-Xu, Yin-Xu, and Tan-Shi-Yu-Zhi constitutions, respectively; (2 Yin-Xu and Tan-Shi-Yu-Zhi constitutions had significant correlations with all symptoms of discomfort, while Yang-Xu had significant correlations with all symptoms of discomfort except for “running nose”; (3 Tan-Shi-Yu-Zhi constitution and stress were two indicators for “fatigue”; Tan-Shi-Yu-Zhi was the indicator for “nausea”; Yang-Xu and Yin-Xu were indicators for “frequent urination.” Our findings also indicate that stress level affects constitutional changes and that stress and constitutional change affect the incidence of discomfort. This research can help healthcare professionals observe these discomforts and provide individualized care for pregnant women, to nurture pregnant women into neutral-type constitution, minimize their levels of discomfort, and promote the health of the fetus and the mother.

  7. PREVALENCE OF SUB CLINICAL HYPOTHYROIDISM IN FIRST TRIMESTER OF PREGNANCY

    Directory of Open Access Journals (Sweden)

    Nataraj

    2015-04-01

    Full Text Available Thyroid disorder is s econd most common endocrine disorder in pregnancy . Hypothyroidism is more common in women in their reproductive age. Subclinical hypothyroidism is one of the type of thyroid disorders with incidence of 2 - 5% . The present study is to know the prevalence of subclinical hypothyroidism in pregnancy . METHODS : A prospective study conducted in Department of Obstetrics and Gynecology , ESIMC PGI MSR Bangalore , Karnataka . Data collected from One Hundred Fifty pregnant women attending antenatal checkup in our hospital in first trimester . According to Endocrinology society thyroid function test is done , if TSH is high then FT3 , FT4 values are estimated . Normal value for TSH is 0.1 - 2.5IU/ml in 1 st trimester . RESULT: In our study out of 150 women , Primi are 85 in number and Multie are 65 in number , Women with subclinical hypothyroidism is 20 . Prevalence of hypothyroidism in our study is 13% . CONCLUSION: Universal screening of thyroid disorder is necessary during pregnancy to prevent fetal and maternal morbidity associated with subclinical hypothyroidism

  8. First-trimester medical abortion service in Hong Kong.

    Science.gov (United States)

    Lo, Sue S T; Ho, P C

    2015-10-01

    Research on medical abortion has been conducted in Hong Kong since the 1990s. It was not until 2011 that the first-trimester medical abortion service was launched. Mifepristone was registered in Hong Kong in April 2014 and all institutions that are listed in the Gazette as a provider for legal abortion can purchase mifepristone from the local provider. This article aimed to share our 3-year experience of this service with the local medical community. Our current protocol is safe and effective, and advocates 200-mg mifepristone and 400-µg sublingual misoprostol 24 to 48 hours later, followed by a second dose of 400-µg sublingual misoprostol 4 hours later if the patient does not respond. The complete abortion rate is 97.0% and ongoing pregnancy rate is 0.4%. Some minor side-effects have been reported and include diarrhoea, fever, abdominal pain, and allergy. There have been no serious adverse events such as heavy bleeding requiring transfusion, anaphylactic reaction, septicaemia, or death.

  9. Maternal attitude towards first trimester screening for fetal abnormalities.

    Science.gov (United States)

    Maiz, Nerea; Burgos, Jorge; Barbazán, Maria José; Recio, Virginia; Martínez-Astorquiza, Txanton

    2016-05-01

    To explore the maternal attitude towards the screening for structural abnormalities at the 11-13-week scan, according to the severity of the abnormality. A secondary aim was to analyse which maternal characteristics influence in the maternal response. This is a descriptive study based on the responses to 300 self-administrated questionnaires completed immediately before routine ultrasounds scan. A totally of 296 (98.7%) women participated in the study. If the baby had any abnormality 93.9% would prefer to know at 12 weeks, 96.6% if the abnormality was lethal, 95.3% if the abnormality involves severe handicap, 91.2% if the abnormality can only be suspected, but not confirmed until the pregnancy is more advanced (16 or 20 weeks), 77.0% if the abnormality was minor and 79.4% women would like to know at 12 weeks if the baby appeared normal. Maternal age, gestational age at the time of the questionnaire and maternal attitude towards termination of pregnancy were the only factors affecting maternal responses. Pregnant women prefer to be informed in the first trimester about any abnormality in their fetuses, even in cases of minor or only suspected abnormalities. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  10. Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.

    Science.gov (United States)

    Halley, D; Heukels-Dully, M J

    1977-01-01

    Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syndrome. Images PMID:856956

  11. Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13

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    Chih-Ping Chen

    2010-03-01

    Full Text Available Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic trisomy 13.

  12. [Anencephaly at 20 weeks gestation. What is the optimal gestational age for early diagnosis?].

    Science.gov (United States)

    Porath, M; Henrich, W; Schmider, A; Dudenhausen, J W

    2002-01-01

    Anencephaly is a lethal defect resulting from a disturbed closure of the neural tube. Prenatal diagnosis during first-trimester-scan is essential but implies pitfalls. Three findings of anencephaly at 20 weeks gestation are reported. Fetuses with anencephaly are correctly identified at 12 to 13 weeks gestation. Anencephaly occurs in absence of the cranial vault. Ultrasound findings can be normal until onset of ossification has definitely failed. A first trimester scan at 12 to 13 weeks allows reliable diagnosis and active management of anencephaly. At this gestational age fetal anatomy can be screened in detail by transvaginal ultrasound and nuchal translucency can be measured.

  13. FUNCTIONALLY UNIVENTRICULAR HEARTS: IMPACT OF PRE-NATAL DIAGNOSIS

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    Antonio Francesco Corno

    2015-02-01

    Full Text Available 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, interruption of pregnancy versus treatment

  14. Evaluation of Outcome- Prenatal Diagnosis Indication and Results Suitability in Families Referred to our Laboratory For Prenatal Diagnosis

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    Ayşegül Türkyılmaz

    2007-01-01

    Full Text Available Since our aim is to establish the importance, necessity and concept of prenatal diagnosis in our region and supply routine service at a stage which we admit as a transitional period for application, all of the materials of amniocentesis, cordocentesis and corion villi sample referred to laboratories were evaluated without refusal.When we examined prenatal diagnoses of these specimens, we found Down Risk (according to triple test result in 164 specimens (%34, fetal anomaly risk in 122 (%25, advanced age in 69 (%14 poor-obstetric anamnesis in 27(%5, Down Syndrome- infant history in 20 (%4, family request in 17, and habitual abortus (%3 etc. in specimens. Lymphocyte Culture prepared in duplicate for each specimen and chromosome were obtained from total of ten slides for each specimen. Slides were stained with Giemsa Banding Technic (GTG Banding. Total (10x481 4810 slides were evaluated for diagnosis.There were no false positive and false negative results.

  15. Diagnostic performance and costs of contingent screening models for trisomy 21 incorporating non-invasive prenatal testing.

    Science.gov (United States)

    Maxwell, Susannah; O'Leary, Peter; Dickinson, Jan E; Suthers, Graeme K

    2017-08-01

    Contingent screening for trisomy 21 using non-invasive prenatal testing has the potential to reduce invasive diagnostic testing and increase the detection of trisomy 21. To describe the diagnostic and economic performance of prenatal screening models for trisomy 21 that use non-invasive prenatal testing as a contingent screen across a range of combined first trimester screening risk cut-offs from a public health system perspective. Using a hypothetical cohort of 300 000 pregnancies, we modelled the outcomes of 25 contingent non-invasive prenatal testing screening models and compared these to conventional screening, offering women with a high-risk (1 > 300) combined first trimester screening result an invasive test. The 25 models used a range of risk cut-offs. High-risk women were offered invasive testing. Intermediate-risk women were offered non-invasive prenatal testing. We report the cost of each model, detection rate, costs per diagnosis, invasive tests per diagnosis and the number of fetal losses per diagnosis. The cost per prenatal diagnosis of trisomy 21 using the conventional model was $51 876 compared to the contingent models which varied from $49 309-66 686. The number of diagnoses and cost per diagnosis increased as the intermediate-risk threshold was lowered. Results were sensitive to trisomy 21 incidence, uptake of testing and cost of non-invasive prenatal testing. Contingent non-invasive prenatal testing models using more sensitive combined first trimester screening risk cut-offs than conventional screening improved the detection rate of trisomy 21, reduced procedure-related fetal loss and could potentially be provided at a lower cost per diagnosis than conventional screening. © 2017 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  16. Risk indicators predictive for severe hypoglycemia during the first trimester of type 1 diabetic pregnancy

    NARCIS (Netherlands)

    Evers, IM; van der Schoot, B; ter Braak, EWMT; Janssen, N; de Valk, HW; Visser, GHA

    2002-01-01

    OBJECTIVES- To investigate the frequency of severe hypoglycemia (SH) and hypoglycemic coma during the first trimester of type 1 diabetic pregnancy and in the 4 months before gestation and to identify risk indicators predicting first trimester SH in a nonselected nationwide cohort of pregnant women w

  17. Permissive human cytomegalovirus infection of a first trimester extravillous cytotrophoblast cell line

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    LaMarca Heather L

    2004-11-01

    Full Text Available Abstract Human cytomegalovirus (HCMV is the leading cause of congenital viral infection in the United States and Europe. Despite the significant morbidity associated with prenatal HCMV infection, little is known about how the virus infects the fetus during pregnancy. To date, primary human cytotrophoblasts (CTBs have been utilized to study placental HCMV infection and replication; however, the minimal mitotic potential of these cells restricts experimentation to a few days, which may be problematic for mechanistic studies of the slow-replicating virus. The aim of this study was to determine whether the human first trimester CTB cell line SGHPL-4 was permissive for HCMV infection and therefore could overcome such limitations. HCMV immediate early (IE protein expression was detected as early as 3 hours post-infection in SGHPL-4 cells and progressively increased as a function of time. HCMV growth assays revealed the presence of infectious virus in both cell lysates and culture supernatants, indicating that viral replication and the release of progeny virus occurred. Compared to human fibroblasts, viral replication was delayed in CTBs, consistent with previous studies reporting delayed viral kinetics in HCMV-infected primary CTBs. These results indicate that SGHPL-4 cells are fully permissive for the complete HCMV replicative cycle. Our findings suggest that these cells may serve as useful tools for future mechanistic studies of HCMV pathogenesis during early pregnancy.

  18. Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

    Energy Technology Data Exchange (ETDEWEB)

    Guguloth, Ashwitha [Dept. of Radiology, Bangalore Medical College and Research Institute, Bangalore (India); Aswani, Yashant; Anandpara, Karan Manoj [Dept. of Radiology, Seth G S Medical College and KEM Hospital, Mumbai (India)

    2016-01-15

    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.

  19. Applicability of first-trimester combined screening for fetal trisomy 21 in a resource-limited setting in mainland China.

    Science.gov (United States)

    Li, B; Sahota, D S; Lao, T T; Xu, J; Hu, S Q; Zhang, L; Liu, Q Y; Sun, Q; Tang, D; Ma, R M

    2016-09-01

    To assess the feasibility and performance of the first-trimester combined screening test for trisomy 21 in a resource-limited setting in mainland China. Prospective observational cohort study. First Affiliated Hospital of Kunming Medical University, China. Ten thousand four hundred and forty-two pregnant women requesting first-trimester screening. The combined screening test was performed from May 2012 to December 2014. Women with a high-risk result (≥1:600) were offered further confirmatory tests after counselling. The threshold for high risk was determined by Monte Carlo simulation to achieve a 5% false-positive rate according to the local age distribution. Pregnancy outcome and screening results were recorded for all women and monthly audits were conducted. Sensitivity, screen positive rate, cost per case of Down syndrome detected. Six hundred and ten women (5.8% of the total screened) had a high-risk screening test, of whom 274 (44.9%) underwent a diagnostic test and 169 (27.7%) opted for a noninvasive prenatal screening test (NIPT); 160 (26.2%) declined further testing after counselling. The pregnancy outcome was available for 10 174 (97.4%) of the women. The observed incidence of Down syndrome was 0.13% (1/750). All 14 women with a trisomy 21 pregnancy had a high-risk screening test result. The cost per Down syndrome detected was RMB596 686 compared with RMB1.79 million if all had been screened by NIPT. The combined screening test appears to be a more cost-effective strategy in mainland China. Screening performance in China would be improved by adopting Chinese-specific models, external quality control and assurance, and establishing risk thresholds appropriate for the age distribution of the population. Combined first-trimester Downs screening in China was improved by adopting Chinese-specific models and external QC. © 2016 Royal College of Obstetricians and Gynaecologists.

  20. Natural history of fetal trisomy 13 after prenatal diagnosis.

    Science.gov (United States)

    Barry, Sinead C; Walsh, Colin A; Burke, Annette L; McParland, Peter; McAuliffe, Fionnuala M; Morrison, John J

    2015-01-01

    There are currently limited data describing the natural history and outcome for fetal trisomy 13 diagnosed prenatally. The aim of this study was to evaluate the fetal and neonatal outcome for pregnancies with an established prenatal diagnosis of fetal trisomy 13, and a parental decision for continuation of the pregnancy. To this end, the obstetric and neonatal outcome data for such pregnancies, diagnosed at two referral Fetal Medicine Centers, were retrospectively obtained and examined. During the study period, there were 45 cases of trisomy 13 diagnosed at both units, of which 26 (56%) continued with the pregnancy to its natural outcome. There were 12 intrauterine deaths in the cohort resulting in a rate of 46.2% of intrauterine lethality. Conversely, the live birth rate was 53.8%. For infants born alive, neonatal death on day 1 of life occurred in 78.6% of cases. The overall early neonatal mortality rate was 93%. There was one infant death at 6 weeks of age and no survival noted beyond this period. These data provide reliable information for parental counseling pertaining to risk of intrauterine death when trisomy 13 is diagnosed prenatally. These data also indicate that the survival outcome is worse than that previously accepted from studies of postnatal follow up of live born infants with this diagnosis.

  1. Diagnóstico prenatal del pie bot Prenatal diagnosis of clubfoot

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    Julio Javier Masquijo

    2011-12-01

    the method, the association with other diseases and the need to perform amniocentesis analysis of the karyotype. Objectives. To analyze the percentage of patients with prenatal diagnosis of clubfoot, evaluate mothers' opinion on this issue, and clarify some concepts by reviewing the literature available to date. Methods. We retrospectively analyzed a group of 54 consecutive patients diagnosed with clubfoot treated from January 2008 to June 2010. We documented the number of ultrasounds performed during pregnancy, type of ultrasound (2D, 3D or 4D and the gestational week at diagnosis. Mothers were surveyed to ascertain their opinion with regard to prenatal diagnosis. Results. An average of 3.2 ultrasounds was performed during pregnancy (r, 1-7. Prenatal diagnosis was performed in 25% of cases (13/52 patients. Diagnosis was performed in 7 cases with 2-D ultrasound in 4 with 3-D and in 2 with 4-D. Diagnosis was performed on average at week 22 (r, 20- 28. No patient was diagnosed early, 12 were diagnosed late and 1 very late. Conclusion. Prenatal diagnosis gives parents the opportunity for psychological preparation and counseling regarding clubfoot. In our series, 90.4% supported prenatal diagnosis.

  2. Prenatal diagnosis of chorionicity in twins.

    LENUS (Irish Health Repository)

    Hassan, T

    2012-02-01

    The aim of this audit was to assess the accuracy of transabdominal ultrasound scan in predicting chorionicity in twin pregnancies in our unit. The presence or absence of lambda sign, T-sign, dividing membrane thickness and number of placentae were used to determine chorionicity. We retrospectively analysed these antenatal markers in 268 sets of twins delivered over a 5 year period and compared it with the postpartum placental histology and neonatal gender. Of 268 twin deliveries, 204 (76%) had both chorionicity and placental histology to compare. 67 of 84 (80%) were correctly diagnosed antenatally as monochorionic and 137 of 151 (91%) as dichorionic. In 31 cases (15%) the ultrasound diagnosis of chorionicity didn\\'t match placental histology. Seventeen were thought to be monochorionic antenatally but were confirmed dichorionic on placental histology. Overall chorionicity was correctly diagnosed in 171\\/204 (84%) using transabdominal ultrasound scan (USS) in all trimesters. However the sensitivity and specificity of USS was much higher for dichorionic twins when carried out before 14 weeks of gestation.

  3. Enhanced First Trimester Screening for Trisomy 21 with Contingent Cell-Free Fetal DNA: A Comparative Performance and Cost Analysis.

    Science.gov (United States)

    Huang, Tianhua; Meschino, Wendy S; Teitelbaum, Mari; Dougan, Shelley; Okun, Nan

    2017-09-01

    Prenatal screening for trisomy 21 is a standard of care. Emerging cell-free fetal DNA (cffDNA) technologies can improve screening performance, but they are expensive. This study was conducted to propose a contingent screening model that would incorporate cffDNA technology, would remain affordable, and could be applied equitably in a publically funded system. Using performance and cost parameters from published literature, four prenatal screening strategies were compared. Scenario 1 modelled integrated prenatal screening (first trimester nuchal translucency and biochemical markers from both the first and second trimesters) with no cffDNA. Scenarios 2 and 3 modelled first trimester combined screening (FTS) and "enhanced FTS" (adding serum placental growth factor and alpha fetoprotein to FTS), respectively, with contingent cffDNA following a positive result. Scenario 4 modelled cffDNA as the primary screening test. Scenario 1 provides a known detection rate (DR) of 88%, with a false positive rate (FPR) of 3.3%. Scenarios 2 and 3 result in a DR of 94% and overall FPR of 0.59% and 0.33%, respectively, comparable to the DR of 96% and FPR of 0.1% with primary cffDNA (assuming the published test failure rate of 3%). The total cost, cost per woman screened, and cost per case of trisomy 21 detected were lower with scenario 3 (enhanced FTS with contingent cffDNA) compared with primary cffDNA or scenario 2 (FTS with contingent cffDNA). Enhanced FTS with contingent cffDNA following a positive result provides a similar performance to that of primary cffDNA at a substantially lower cost. Copyright © 2017 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.

  4. Non-invasive epigenetic detection of fetal trisomy 21 in first trimester maternal plasma.

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    Ji Hyae Lim

    Full Text Available BACKGROUND: Down syndrome (DS is the most common known aneuploidy, caused by an extra copy of all or part of chromosome 21. Fetal-specific epigenetic markers have been investigated for non-invasive prenatal detection of fetal DS. The phosphodiesterases gene, PDE9A, located on chromosome 21q22.3, is completely methylated in blood (M-PDE9A and unmethylated in the placenta (U-PDE9A. Therefore, we estimated the accuracy of non-invasive fetal DS detection during the first trimester of pregnancy using this tissue-specific epigenetic characteristic of PDE9A. METHODOLOGY/PRINCIPAL FINDINGS: A nested, case-control study was conducted using maternal plasma samples collected from 108 pregnant women carrying 18 DS and 90 normal fetuses (each case was matched with 5 controls according to gestational weeks at blood sampling. All pregnancies were singletons at or before 12 weeks of gestation between October 2008 and May 2009. The maternal plasma levels of M-PDE9A and U-PDE9A were measured by quantitative methylation-specific polymerase chain reaction. M-PDE9A and U-PDE9A levels were obtained in all samples and did not differ between male and female fetuses. M-PDE9A levels did not differ between the DS cases and controls (1854.3 vs 2004.5 copies/mL; P = 0.928. U-PDE9A levels were significantly elevated in women with DS fetuses compared with controls (356.8 vs 194.7 copies/mL, P<0.001. The sensitivities of U-PDE9A level and the unmethylation index of PDE9A for non-invasive fetal DS detection were 77.8% and 83.3%, respectively, with a 5% false-positive rate. In the risk assessment for fetal DS, the adjusted odds ratios of U-PDE9A level and UI were 46.2 [95% confidence interval: 7.8-151.6] and 63.7 [95% confidence interval: 23.2-206.7], respectively. CONCLUSIONS: Our findings suggest that U-PDE9A level and the unmethylation index of PDE9A may be useful biomarkers for non-invasive fetal DS detection during the first trimester of pregnancy, regardless of fetal

  5. Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound.

    Science.gov (United States)

    Webb, Sara Jane; Garrison, Michelle M; Bernier, Raphael; McClintic, Abbi M; King, Bryan H; Mourad, Pierre D

    2017-03-01

    Current research suggests that incidence and heterogeneity of autism spectrum disorder (ASD) symptoms may arise through a variety of exogenous and/or endogenous factors. While subject to routine clinical practice and generally considered safe, there exists speculation, though no human data, that diagnostic ultrasound may also contribute to ASD severity, supported by experimental evidence that exposure to ultrasound early in gestation could perturb brain development and alter behavior. Here we explored a modified triple hit hypothesis [Williams & Casanova, ] to assay for a possible relationship between the severity of ASD symptoms and (1) ultrasound exposure (2) during the first trimester of pregnancy in fetuses with a (3) genetic predisposition to ASD. We did so using retrospective analysis of data from the SSC (Simon's Simplex Collection) autism genetic repository funded by the Simons Foundation Autism Research Initiative. We found that male children with ASD, copy number variations (CNVs), and exposure to first trimester ultrasound had significantly decreased non-verbal IQ and increased repetitive behaviors relative to male children with ASD, with CNVs, and no ultrasound. These data suggest that heterogeneity in ASD symptoms may result, at least in part, from exposure to diagnostic ultrasound during early prenatal development of children with specific genetic vulnerabilities. These results also add weight to on-going concerns expressed by the FDA about non-medical use of diagnostic ultrasound during pregnancy. Autism Res 2017, 10: 472-484. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

  6. First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study.

    Science.gov (United States)

    Borrell, Antoni; Casals, Elena; Fortuny, Albert; Farre, M Teresa; Gonce, Anna; Sanchez, Aurora; Soler, Anna; Cararach, Vicençc; Vanrell, Joan A

    2004-07-01

    To assess the effectiveness of the Combined Test in the prenatal detection of trisomy 21 in the general pregnant population using a new timing for the screening approach. First-trimester maternal serum biochemical markers (pregnancy-associated plasma protein-A and free-beta hCG) were determined in maternal serum at 7 to 12 weeks. Fetal nuchal translucency and gestational age were assessed at the 10- to 14-week ultrasound scan. A combined risk was estimated and delivered to the women the same day. When the risk was 1:250 or above, chorionic villus sampling was offered. Mean gestational age at biochemistry was 9.4 weeks, being 12.3 at ultrasound. In the 2780 studied pregnancies with a complete follow-up, observed detection rates were 88% (7/8) for trisomy 21 and 75% (3/4) for trisomy 18, with a 3.3% (92/2765) false-positive rate. The Combined Test, assessing biochemistry and ultrasound at individually optimal ages in the first trimester, showed an 88% detection rate for trisomy 21 with a remarkably reduced false-positive rate (3.3%). Copyright 2004 John Wiley and Sons, Ltd.

  7. Urinary incontinence related to perineal muscle strength in the first trimester of pregnancy: cross-sectional study

    Directory of Open Access Journals (Sweden)

    Maria Luiza Gonzalez Riesco

    2014-08-01

    Full Text Available Objective To analyze pelvic floor muscle strength (PFMS, urinary continence and quality of life related to urinary incontinence (UI of women in the first trimester of pregnancy. Method Cross-sectional study with a sample of 500 women who started prenatal care in a complementary healthcare facility in Guarulhos, state of São Paulo, from 2012 and 2013. Pelvic floor muscle strength was evaluated through perineometry. The pregnant women who presented UI answered the International Consultation on Incontinence Questionnaire-Short Form (ICIQ-SF. Results It was found that maternal age (OR=1.06; CI95% 1.02-1.11 and prior UI (OR=15.12; 95%CI 8.19-27.92 are the variables that, in tandem, best explain the occurrence of UI at the beginning of pregnancy. The mean score on the ICIQ-SF was 8.2 (SD=3.9, considered a moderate impact on quality of life. Conclusion Older pregnant women with prior UI are more likely to have UI in the first trimester of pregnancy.

  8. Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome.

    Science.gov (United States)

    Dave, Usha; Shetty, Dhanlaxmi

    2014-02-01

    Phenotypic variability and the lack of a diagnostic marker have complicated the rapid diagnosis and genetic counseling for Cornelia de Lange syndrome (CdLS). The clinical features of CdLS are striking and easily recognizable by characteristic facial dysmorphism, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities with severe mental retardation. The molecular diagnosis is essential for predicting prognosis and genetic counseling in the affected family, especially while planning the next pregnancy. We report here from India six cases of CdLS and how precise mutational screening in two cases helped in prenatal diagnosis and proved significant in prevention of recurrence in the affected family.

  9. Prenatal diagnosis of neonatal hemochromatosis: it is possible?

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    Helena Isabel Lopes

    2015-06-01

    Full Text Available Introduction: Neonatal Hemochromatosis is a rare liver disease of intrauterine onset, defined by neonatal liver failure associated with extrahepatic siderosis. Gestational alloimmune liver disease has been established as the cause of fetal liver injury. At present, there is no effective approach to prenatal diagnosis. Case Report: A 23-year-old pregnant woman presented at 32 weeks of gestation with oligohydramnios and hyperechogenic liver focus on ultrasound. The premature newborn developed multisystem organ failure and died at the second day of life despite aggressive support care. The autopsy allowed the diagnosis of Neonatal Hemochromatosis. Conclusion: The ultrasound identification of hyperechogenic nodular focus on fetal liver may be suggestive of Neonatal Hemochromatosis. Further investigations are needed to identify the specific alloimmune complex in maternal blood. Establishment of the diagnosis in an affected fetus or newborn may have a major impact for the prognosis of disease and for the outcome of future pregnancies.

  10. Clinical application of fluorescence in situ hybridization for prenatal diagnosis

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    Shu-fang JIANG

    2012-07-01

    Full Text Available Objective To establish and optimize the procedures of fluorescence in situ hybridization(FISH), and evaluate its clinical value in rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. Methods Amniotic fluid or fetal blood was sampled by routine invasive procedures. After the amniotic fluid cells or fetal blood cells were separated and sequentially processed with hypotonic solution, fixation solution, smear and high temperature, they were hybridized in situ with two panels of specific fluorescence probes to detect numerical abnormality of chromosomes 21, 18, 13, X, Y. All the samples were also cultured and analyzed for their karyotype by conventional methods. Results When it was used as a diagnostic criterion of chromosomal number that the fluorescence signals were observed in ≥90% cells, GLP 13/GLP 21 probe panel showed 2 green/2 red fluorescence signals and CSP18/CSP X/CSP Y probe panel showed 2 blue/2 yellow (female or 2 blue/1 yellow/1 red fluorescence signals (male under normal condition. The test reports of all 196 cases were sent out in 72-96 hours, and 7 cases of Down syndrome, 2 cases of trisomy 18 and 1 case of sex chromosomal numerical abnormality were detected, which were accordant with karyotype analysis results reported one month later. Conclusions FISH has potential for clinical application, and is applicable to rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. The rapid FISH, together with conventional karyotyping, offer a valuable means for prenatal diagnosis of fetal aneuploidies.

  11. Prenatal Diagnosis of Dextrotransposition of the Great Arteries

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    Jeng-Hsiu Hung

    2008-10-01

    Full Text Available 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.

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

    Science.gov (United States)

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

    2013-11-01

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

  13. Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy.

    Science.gov (United States)

    Loft, A; Tabor, A

    1984-01-01

    From 1.3.73 to 30.9.80 5580 women had an amniocentesis performed here or elsewhere; fetal chromosome analyses were carried out in this laboratory. We found 112 abnormal karyotypes (2 per cent) out of 5591 chromosome analyses. In 40 women (0.7 per cent) no cytogenetic diagnosis was obtained. Follow-up was successful in 99.5 per cent. Nine cases are reported in detail: Three cases had discrepancy between the karyotype in amniotic fluid and peripheral blood after delivery, two of these cases turned out to be 46,XX (male) while the third was prenatally determined as trisomy 21, but had a 46,XX karyotype at birth. Six cases had discrepancy between the karyotype in amniotic fluid and the phenotypic outcome at birth/abortion. One case was a prenatally undetected 45,X/46,XY mosaicism; one case was an unexplained 45,X male fetus; two cases were prenatally determined as trisomy 21, but at abortion a normal karyotype was determined and in two cases maternal cells were probably examined. The incidence of cytogenetic errors in this study was very low.

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

    Science.gov (United States)

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

    1988-12-01

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

  15. Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly.

    Science.gov (United States)

    Jaquier, M; Klein, A; Boltshauser, E

    2006-08-01

    Parents are usually told that many anencephalic offspring die in utero or soon after delivery, and many obstetricians offer elective termination of the pregnancy. Following the personal experience of the first author, a personal website was created with the intention of providing information and exchanging views with other parents confronted with a prenatal diagnosis of anencephaly. Data were collected from 211 pregnancies where the parents opted not to terminate pregnancy. These data revealed that polyhydramnios was a feature in 56 (26%) pregnancies, death in utero in 15 (7%) pregnancies, 72 (34%) babies were born prematurely (anencephaly is medically safe and should be considered as an option.

  16. Screening for fetal spina bifida by ultrasound examination in the first trimester of pregnancy using fetal biparietal diameter.

    Science.gov (United States)

    Bernard, Jean-Pierre; Cuckle, Howard S; Stirnemann, Julien J; Salomon, Laurent J; Ville, Yves

    2012-10-01

    Prenatal screening for aneuploidies is best achieved in the first trimester when there is no reliable screening test for spina bifida. Early ultrasound features may be too complex for routine screening. We assessed screening potential of simple and reproducible fetal biometric measurements at 11-14 weeks of gestation. A total of 34,951 unselected consecutive pregnancies included 18 with spina bifida. Another 28 cases were referred for assessment. Biometric measurements were expressed in multiples of the median for crown-rump length. Biparietal diameter (BPD) was smaller in spina bifida (P bifida aperta had a BPD bifida by identifying 5% of pregnancies for expert scanning in first- and second-trimester examinations of the fetal spine and cranium. Copyright © 2012 Mosby, Inc. All rights reserved.

  17. Contingent first-trimester screening for aneuploidies with cell-free DNA in a Danish clinical setting

    DEFF Research Database (Denmark)

    Miltoft, Caroline Borregaard; Rode, Line; Ekelund, Charlotte Kvist

    2017-01-01

    OBJECTIVES: The primary aim was to compare the screening performance for Trisomy 21, of standard combined first trimester screening with referral to invasive testing at a cut-off at 1 in 300, with a contingent testing, consisting of referral to invasive testing at a 1 in 100 cut-off and referral...... and gestational age, nuchal translucency thickness, and levels of PAPP-A and ß-hCG. Blood samples for cfDNA testing were analysed using the Harmony Prenatal Test® giving risks for Trisomy 21, 18 and 13, and sex chromosomal aneuploidies. The cfDNA analysis was blinded from the combined risk assessment, karyotype...... these there were 15 cases of Trisomy 21, one case of Trisomy 18 and two cases of Trisomy 13. The sensitivity for Trisomy 21 was 100% using both screening scenarios, while specificity increased significantly from 97.0% to 98.8% (p Trisomy 21, 18 and 13...

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

    Science.gov (United States)

    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.

  19. Prenatal toxoplasmosis diagnosis from amniotic fluid by PCR

    Directory of Open Access Journals (Sweden)

    Vidigal Paula Vieira Teixeira

    2002-01-01

    Full Text Available Toxoplasmosis is one of the most common infections all over the world. Most cases are asymptomatic, except in immunosuppressed individuals and fetuses, which can be seriously damaged. Prenatal diagnosis should be made as soon as possible since treatment of the mother can minimize fetal sequelae. Our aim in this study was to test the polymerase chain reaction technique (PCR in 86 samples of amniotic fluid from women who seroconverted during pregnancy. DNA was amplified using external primers and, in a second step, internal primers, in a nested PCR system. Samples were also inoculated into mice and the newborn were evaluated by T. gondii serology, skull x-ray, transfontanel ultrasound, fundoscopic examination, lumbar puncture and clinical examination. PCR was positive in seven cases and negative in 79. Among PCR-positive cases, two were negative by inoculation into mice and by clinical evaluation; among PCR-negative ones, three had clinical evidence of toxoplasmosis and one was positive after inoculation into mice. PCR showed values of sensitivity = 62.5% and specificity = 97.4%; the values of inoculation into mice where 42.9% and 100%, respectively. Although PCR should not be used alone for prenatal diagnosis of congenital toxoplasmosis, it is a promising method and deserves more studies to improve its efficacy.

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

    Science.gov (United States)

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

    1998-06-01

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

  1. Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Senocak, Efsun Urger; Oguz, Kader Karli; Akata, Deniz [Hacettepe University Faculty of Medicine, Department of Radiology, Sihhiye, Ankara (Turkey); Haliloglu, Goknur [Hacettepe University Faculty of Medicine, Department of Pediatric Neurology, Ankara (Turkey); Karcaaltincaba, Deniz; Kandemir, Omer [Etlik Zubeyde Hanim Woman' s Hospital, Department of Obstetrics and Gynaecology, Ankara (Turkey)

    2009-04-15

    Pena-Shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Prenatal US is crucial in showing Pena-Shokeir syndrome phenotype in addition to demonstrating reduced fetal movements or akinesia as an underlying aetiological factor as early as the 14th week of gestation. Several reports of prenatal diagnosis of Pena-Shokeir syndrome phenotype by US have been published. In this report, MRI findings providing prenatal diagnosis are presented. (orig.)

  2. COMPARISON BETWEEN SUBLINGUAL AND VAGINAL ROUTE OF MISOPROSTOL IN MANAGEMENT OF FIRST TRIMESTER MISCARRIAGE MISSING

    OpenAIRE

    Dehbashi, Zahra; Moosazadeh, Mahmood; Afshari, Mahdi

    2016-01-01

    Background: Each year, more than forty million abortions are occurred whole of the world. Misoprostol is a prostaglandin analogue with a strong uterotonic effect. The present study aimed to compare the efficacy of Misoprostol in first trimester abortion through two sublingual and vaginal routes of administration. Methods: This randomized clinical trial was conducted on 52 consecutive women in first trimester candidate for pregnancy termination because of fetal IUFD or missed abortion in sonog...

  3. The maternal age-related first trimester risks for trisomy 21, 18 and 13 based on Danish first trimester data from 2005 to 2014

    DEFF Research Database (Denmark)

    Hartwig, Tanja Schlaikjær; Sørensen, Steen; Jørgensen, Finn Stener

    2016-01-01

    OBJECTIVES: Most currently used age-related risks of T21, T18 and T13 are based on estimates of the live-birth prevalence, and describe an exponential increase of risk by increased maternal age. We investigated the first trimester prevalence of T21, T18 and T13 in a large population of Danish women...

  4. Correlation between exposure to magnetic fields and embryonic development in the first trimester.

    Directory of Open Access Journals (Sweden)

    Xiu-Juan Su

    Full Text Available OBJECTIVE: To explore the correlation between maternal magnetic field (MF exposure in daily life and embryonic development. METHODS: A cross-sectional study was conducted among 149 pregnant women who were seeking induced abortion of unwanted pregnancies. Participating women were asked to wear an EMDEX Lite magnetic field meter for a 24-h period to obtain MF exposure level within 4 weeks following the abortion. Embryonic bud and sac lengths were measured through B-mode ultrasound before the surgical abortion. Embryo sections were prepared and examined for histological changes, and the apoptosis status of the deciduas was examined using the TUNEL apoptosis assay. RESULTS: Embryonic bud length was inversely associated with maternal daily MF exposure level; the association was statistically significant at the time-weighted-average and 75th percentile of MF exposure levels, with coefficients of -3.09 (P = 0.0479 and -3.07 (P = 0.0228, respectively. Logistic regression for examining the risk of higher MF exposure indicated that women with her 75th percentile of daily MF measurements ≥0.82 mG had a 3.95-fold risk of having a fetus with a shorter embryonic bud length than those whose daily MF exposure were <0.82 mG. MF exposure was associated with a higher degree of apoptosis, but the association was not statistically significant. We failed to find a statistical correlation between MF exposure and embryonic sac length and histological changes in the first trimester. CONCLUSION: Prenatal MF exposure may have an adverse effect on embryonic development.

  5. Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis

    Institute of Scientific and Technical Information of China (English)

    LI Hui; WEI Jun; MA Ying; SHANG Tao

    2005-01-01

    Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neconatal echocardiography was performed to check the accuracy of prenatal diagnosis. Results: (1) Forty-six cases(4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Fotry-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. Conclusions: (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel's description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart

  6. [Analysis of prenatal follow-up strategies for trisomy 21 affected pregnancies in France].

    Science.gov (United States)

    Dupont, J-M; Simon-Bouy, B; Zebina, A; Pessione, F; Royère, D; Doco-Fenzy, M

    2017-03-01

    The main objective of this study was to screen the prenatal follow-up of women with live birth trisomy 21 child in order to evaluate the proportion of prenatal screening failure versus cases where the women refused either the screening or the prenatal diagnosis of Down syndrome. This study covers the period of time from 2009 to 2012 when the national prenatal screening policy changed from second to first trimester and allows for a comparative assessment of the nationwide efficiency of the various maternal serum marker based strategies. All authorized cytogenetic laboratories sent required data for all cases of trisomy 21 diagnosed in FRANCE in new-borns (less than 1-year-old) from January 2010 to July 2013. A total of 1253 cases of trisomy 21 were diagnosed before 1 year of age whose mother did not had prenatal diagnosis. For 861 of them, information on the prenatal follow-up was available, with 72% of cases where a prenatal screening was organized either by maternal serum marker or by ultrasound. Results of the screening strategy was positive with maternal serum marker in 28% of cases (calculated risk≥1/250), positive because of abnormal ultrasound in 5% and negative with maternal marker screening (whatever the strategy used) in 67% of cases. Detection rate over the period of the study was 82%, with similar efficiency of first and second trimester strategies (83%) but significantly lower with sequential association of first trimester Nuchal translucency measurement and second trimester serum screening (70%). Switching from second trimester to first trimester screening strategy, with as many trisomy 21 foetuses diagnosed with half invasive procedures fulfilled national health policy objectives. Analysis of these data gives useful insights to elaborate a future screening policy involving cell-free foetal DNA sequencing. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  7. [Assessment of efficacy and safety of medical treatment of non-viable first trimester pregnancy].

    Science.gov (United States)

    Zwierzchowska, Aneta; Głuszak, Michał; Jabiry-Zieniewicz, Zoulikha; Banaszek-Wysoczańska, Agnieszka; Dziadecki, Wojciech; Barcz, Ewa

    2012-10-01

    The aim of our study was to assess the efficacy and safety of medical treatment of non-viable first trimester pregnancy. We analyzed 50 cases of women diagnosed with non-viable first trimester pregnancy: missed abortion (79.6%) or anembryonic pregnancy (20.4%), who were admitted and treated at the First Clinic of Obstetrics and Gynecology Medical University of Warsaw, between June 2011 and February 2012. The diagnosis was made after two ultrasound examinations, performed at least one week apart. None of the patients manifested symptoms of imminent miscarriage. All women received medical treatment - misoprostol administered vaginally or in cases of excessive bleeding in the course of the procedure, sublingually - according to our own scheme. The patients were informed that any moment they could decide to discontinue medical treatment and ask for surgery Initially, 4 tablets containing misoprostol (800 mcg) were administered vaginally A control ultrasound examination was performed 6 hours later. If expulsion of the gestational sac was completed, the patient was discharged. If the gestational sac was still present in the uterus, an additional dose of misoprostol was administered: 4 tablets vaginally or if excessive bleeding occurred, 3 tablets (600 mcg) sublingually. Another ultrasound examination was performed after 6 hours from the second dose and the patient was discharged if the expulsion of the gestational sac was completed. If the procedure failed, it was repeated in the same manner the next day. D&C was performed in cases of excessive bleeding, failure of medical treatment after 48 hours, patient decision to discontinue medical treatment or suspected incomplete abortion after menstrual bleeding. For women who completed the medical treatment, control visits were scheduled 14 days after hospital discharge and after menstrual bleeding, if incomplete abortion was suspected. D&C was performed in 12% of patients because of failure of medical treatment after 48 hours

  8. 85例孕早期妇女解整合素-金属蛋白酶12分析%Analysis on disintegrin- metalloprotease 12 in 85 women during the first trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    许飞; 郭彩琴; 许婷殊; 王峻峰; 陈道桢

    2011-01-01

    目的:探讨解整合素-金属蛋白酶12(ADAM12)在孕早期妇女中不同孕周的正常参考值范围,为孕早期产前筛查胎儿唐氏综合征提供实验室依据.方法:收集2008年6月~2009年6月在无锡市妇幼保健院自愿参加孕早期产前筛查的孕妇静脉血血清样本共85份,-70℃保存,孕周为5~10周,常规三联产前筛查采用Wallac产筛软件,ADAM12水平检测采用时间分辨荧光免疫法,用SPSS11.5统计软件、Microsoft Excel软件对结果进行分析.结果:孕早期妇女ADAM12检测结果因孕周而异,本研究孕5周共10例,ADAM12平均值为5.68 ng/ml;孕6周共19例,ADAM12平均值为7.29 ng/ml;孕7周共26例,ADAM12平均值为70.64ng/ml;孕8周共16例,ADAM12平均值为89.40ng/ml;孕9周共10例,ADAM12平均值为111.91 ng/ml;孕10周共9例,ADAM12平均值为139.76 ng/ml.ADAM12水平随孕周增加而升高,并因孕周不同呈相关性,P<0.05,但孕早期ADAM12水平整体偏低.结论:ADAM12在孕早期是一种有效的筛查指标,可为提前诊断唐氏综合征提供实验室依据,但目前因标本量不够大,尚不具备条件建立孕早期ADAM12的正常参考值范围.%Objective: To explore the normal reference range of disintegrin - metalloprotease 12 (ADAM12) in pregnant women during the first trimester of pregnancy of different gestational weeks, provide laboratory evidence for prenatal screening of fetal Down's syndrome during the first trimester of pregnancy.Methods: 85 serum samples from venous blood of pregnant women who received prenatal screening voluntarily during the first trimester of pregnancy in the hospital from June 2008 to June 2009 were collected and reserved in - 70℃, the gestational weeks of the pregnant women were from 5 to 10 gestational weeks, routine trigeminal prenatal screening was conducted by Wallae software, time - resolved fluorescence immunoassay was used to detect the level of ADAM12; SPSS11.5 software and Microsoft Excel software were used for

  9. Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

    Energy Technology Data Exchange (ETDEWEB)

    Miyazaki, Osamu; Horiuchi, Tetsuya [National Center for Child Health and Development, Department of Radiology, Seatagaya-ku, Tokyo (Japan); Nishimura, Gen [Tokyo Metropolitan Children' s Medical Center, Department of Pediatric Imaging, Fuchu-shi, Tokyo (Japan); Sago, Haruhiko; Hayashi, Satoshi [National Center for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Seatagaya-ku, Tokyo (Japan); Kosaki, Rika [National Center for Child Health and Development, Department of Strategic Medicine, Division of Clinical Genetics and Molecular Medicine, Seatagaya-ku, Tokyo (Japan)

    2012-07-15

    Clinical use of 3D CT for fetal skeletal malformations is controversial. The purpose of this study was to evaluate the efficacy of fetal 3D CT using three protocols with different radiation doses and through comparing findings between fetal CT and conventional postnatal radiographic skeletal survey. Seventeen fetuses underwent CT for suspected skeletal dysplasia. A relay of three CT protocols with stepwise dose-reduction were used over the study period. The concordance between the CT diagnosis and the final diagnosis was assessed. Ninety-three radiological findings identifiable on radiographs were compared with CT. Fetal CT provided the correct diagnosis in all 17 fetuses, the detectability rate of cardinal findings was 93.5 %. In 59 % of the fetuses an US-based diagnosis was changed prenatally due to CT findings. The estimated fetal radiation dose in the final protocol was 3.4 mSv (50 %) of the initial protocol, and this dose reduction did not result in degraded image quality. The capability of fetal CT to delineate the skeleton was almost the same as that of postnatal skeletal survey. The perinatal management was altered due to these more specific CT findings, which aided in counseling and in the management of the pregnancy. (orig.)

  10. Meckel-Gruber syndrome. Importance of prenatal diagnosis.

    Science.gov (United States)

    Nyberg, D A; Hallesy, D; Mahony, B S; Hirsch, J H; Luthy, D A; Hickok, D

    1990-12-01

    Prenatal sonographic findings are reported in six fetuses with the Meckel-Gruber syndrome to illustrate the variety of sonographic findings associated with this disorder and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. All six fetuses demonstrated evidence of renal cystic dysplasia. In five cases the kidneys were large and echogenic, demonstrating small discrete cysts in the range of 2 to 5 mm. The remaining fetus demonstrated unilateral renal cystic dysplasia and contralateral renal agenesis. Oligohydramnios was noted in all cases and was evident as early as 14 weeks. An occipital cephalocele was demonstrated on sonography in each case although the size and contents of the cephalocele varied significantly. Two fetuses, both in the same family, also demonstrated a cystic mass in the posterior fossa and partial absence of the cerebellum consistent with a Dandy-Walker variant or cerebellar hypoplasia. The concurrence of marked oligohydramnios and bilateral severe renal anomalies should initiate a search for anomalies of the central nervous system indicative of the Meckel-Gruber syndrome. Recurrence of Meckel-Gruber syndrome may be evaluated as soon as 14 weeks, but it may not be reliably excluded until 20 weeks.

  11. First trimester screening for trisomy 21 in gestational week 8-10 by ADAM12-S as a maternal serum marker

    Directory of Open Access Journals (Sweden)

    Guitton Marie

    2010-10-01

    Full Text Available Abstract Background A disintegrin and metalloprotease 12 (ADAM12-S has previously been reported to be significantly reduced in maternal serum from women with fetal aneuploidy early in the first trimester and to significantly improve the quality of risk assessment for fetal trisomy 21 in prenatal screening. The aim of this study was to determine whether ADAM12-S is a useful serum marker for fetal trisomy 21 using the mixture model. Method In this case control study ADAM12-S was measured by KRYPTOR ADAM12-S immunoassay in maternal serum from gestational weeks 8 to 11 in 46 samples of fetal trisomy 21 and in 645 controls. Comparison of sensitivity and specificity of first trimester screening for fetal trisomy 21 with or without ADAM12-S included in the risk assessment using the mixture model. Results The concentration of ADAM12-S increased from week 8 to 11 and was negatively correlated with maternal weight. Log MoM ADAM12-S was positively correlated with log MoM PAPP-A (r = 0.39, P Conclusion The data show moderately decreased levels of ADAM12-S in cases of fetal aneuploidy in gestational weeks 8-11. However, including ADAM12-S in the routine risk does not improve the performance of first trimester screening for fetal trisomy 21.

  12. Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation

    Directory of Open Access Journals (Sweden)

    Humberto Perera Navarro

    2007-05-01

    Full Text Available The Duchenne muscular dystrophy is one of the most frequent hereditary myopathies that exist. It is characterized by degeneration of the muscle skeletal fibers which produce handicap in the first decade of life bringing about death due to cardiac or respiratory failure. The responsible gene of the disease is known as DMD and it is located in the X chromosome shorter arm. A family history is presented in which the pregnant woman who is the sick patient’s sister asks for a prenatal diagnosis. An indirect molecular study was performed with the STR-50 polymorphic marker. After the analysis of the results in which the lab methodology was applied, the fetus was found to be sick and the family decided to interrupt the pregnancy.

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

    Science.gov (United States)

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

    2013-06-01

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

  14. Epsilon Haemoglobin Specific Antibodies with Applications in Noninvasive Prenatal Diagnosis

    Science.gov (United States)

    Sørensen, Morten Dræby; Gonzalez Dosal, Regina; Jensen, Kim Bak; Christensen, Britta; Kølvraa, Steen; Jensen, Uffe Birk; Kristensen, Peter

    2009-01-01

    Invasive procedures for prenatal diagnosis are associated with increased risk of abortion; thus, development of noninvasive procedures would be beneficial. Based on the observation that embryonic nucleated red blood cell (NRBC) crosses the placenta and enters the circulation of pregnant women, the ability to identify such cell would allow development of such procedures. Identification of NRBCs in blood samples would be possible provided that specific antibodies are available. Here we have isolated recombinant antibodies using phage display. From the panel of antibody fragments specifically recognising ε-Hb, one was chosen for further characterization, DAb1. DAb1 binds to ε-Hb both in Western blots and immunocytochemistry. Several ε-Hb positive cells were detected in a blood sample taken as postchorionic villus sampling (CVS). To evaluate the sensitivity of the method, K562 cells (which express ε-Hb) were spiked in a blood sample followed by staining in solution and FACS analysis. PMID:19636421

  15. Epsilon Haemoglobin Specific Antibodies with Applications in Noninvasive Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Morten Dræby Sørensen

    2009-01-01

    Full Text Available Invasive procedures for prenatal diagnosis are associated with increased risk of abortion; thus, development of noninvasive procedures would be beneficial. Based on the observation that embryonic nucleated red blood cell (NRBC crosses the placenta and enters the circulation of pregnant women, the ability to identify such cell would allow development of such procedures. Identification of NRBCs in blood samples would be possible provided that specific antibodies are available. Here we have isolated recombinant antibodies using phage display. From the panel of antibody fragments specifically recognising ε-Hb, one was chosen for further characterization, DAb1. DAb1 binds to ε-Hb both in Western blots and immunocytochemistry. Several ε-Hb positive cells were detected in a blood sample taken as postchorionic villus sampling (CVS. To evaluate the sensitivity of the method, K562 cells (which express ε-Hb were spiked in a blood sample followed by staining in solution and FACS analysis.

  16. Posterior fossa malformations: main features and limits in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France)

    2010-06-15

    Posterior fossa (PF) malformations are commonly observed during prenatal screening. Their understanding requires knowledge of the main steps of PF development and knowledge of normal patterns in US and MR imaging. The vast majority of PF malformations can be strongly suspected by acquiring a midline sagittal slice and a transverse slice and by systematically scrutinizing the elements of the PF: cerebellar vermis, hemispheres, brainstem, fourth ventricle, PF fluid spaces and tentorium. Analysis of cerebellar echogenicity and biometry is also useful. This review explains how to approach the diagnosis of the main PF malformations by performing these two slices and answering six key questions about the elements of the PF. The main imaging characteristics of PF malformations are also reviewed. (orig.)

  17. Sequential pathways of testing after first-trimester screening for trisomy 21.

    Science.gov (United States)

    Platt, Lawrence D; Greene, Naomi; Johnson, Anthony; Zachary, Julia; Thom, Elizabeth; Krantz, David; Simpson, Joe Leigh; Silver, Richard K; Snijders, Rosalinde J M; Goetzl, Laura; Pergament, Eugene; Filkins, Karen; Mahoney, Maurice J; Hogge, W Allen; Wilson, R Douglas; Mohide, Patrick; Hershey, Douglas; MacGregor, Scott; Bahado-Singh, Ray; Jackson, Laird G; Wapner, Ronald

    2004-10-01

    To evaluate the performance and use of second-trimester multiple-marker maternal serum screening for trisomy 21 by women who had previously undergone first-trimester combined screening (nuchal translucency, pregnancy-associated plasma protein A, and free beta-hCG), with disclosure of risk estimates. In a multicenter, first-trimester screening study sponsored by the National Institute of Child Health and Human Development, multiple-marker maternal serum screening with alpha-fetoprotein, unconjugated estriol, and total hCG was performed in 4,145 (7 with trisomy 21) of 7,392 (9 with trisomy 21) women who were first-trimester screen-negative and 180 (7 with trisomy 21) of 813 (52 with trisomy 21) who were first-trimester screen-positive. Second-trimester risks were calculated using multiples of the median and a standardized risk algorithm with a cutoff risk of 1:270. Among the first-trimester screen-negative cohort, 6 of 7 (86%) trisomy 21 cases were detected by second-trimester multiple-marker maternal serum screening with a false-positive rate of 8.9%. Among the first-trimester screen-positive cohort, all 7 trisomy 21 cases were also detected in the second trimester, albeit with a 38.7% false-positive rate. Our data demonstrate that a sequential screening program that provides patients with first-trimester results and offers the option for early invasive testing or additional serum screening in the second trimester can detect 98% of trisomy 21-affected pregnancies. However, such an approach will result in 17% of patients being considered at risk and, hence, potentially having an invasive test. II-2

  18. Screening of potential biomarkers for prenatal diagnosis of trisomy 21.

    Science.gov (United States)

    Ma, Ke; Li, Feng; Yu, Yang; Li, Haibo

    2017-05-01

    We aimed to identify key genes located on chromosome 21 as potential biomarkers for prenatal diagnosis of trisomy 21 (Ts21). The microarray data of GSE48051, including 10 cultivated amniocyte samples with Ts21 and 9 controls with normal euploid constitution, was obtained from Gene Expression Omnibus database. The differentially expressed genes (DEGs) in cultivated amniocyte samples with Ts21 compared to normal controls were screened using limma package. Then, we performed GO enrichment analysis using DAVID and chromosomal location of DEGs based on the information of the University of California Santa Cruz (UCSC) Genome Browser Database. Finally, protein-protein interaction (PPI) network analysis was performed using STRING. Total 155 DEGs in cultivated amniocyte samples with Ts21 were identified, including 89 up- and 66 down-regulated DEGs. The over-represented GO terms of DEGs were mainly related with apoptosis, programmed cell death and cell death. In total, 13 DEGs were located on chromosome 21, thereinto, only 6 DEGs were included into the PPI network, including superoxide dismutase 1 (SOD1), phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), downstream neighbour of SON (DONSON), ATP synthase, H + transporting, mitochondrial F1 complex, O subunit (ATP5O), chromatin assembly factor 1, subunit B (p60) (CHAF1B) and proteasome (prosome, macropain) assembly chaperone 1 (PSMG1). Our results suggest that SOD1, GART, DONSON, ATP5O, CHAF1B and PSMG1 may play important roles in the pathogenesis of Down syndrome and may serve as potential biomarkers for prenatal diagnosis of Ts21.

  19. [The role of fetal echocardiography in the prenatal diagnosis of aneuploidy based upon prenatally diagnosed patau syndrome fetuses (case analysis)].

    Science.gov (United States)

    Janiak, Katarzyna; Kaczmarek, Piotr; Krasoń, Aneta; Nowicki, Grzegorz; Piotrowicz, Małgorzata; Respondek-Liberska, Maria

    2002-07-01

    Assessment of usefulness of the fetal echocardiography and genetic sonography in prenatal diagnosis trisomy 13 (retrospective analysis). Between 1994-1999 at the Department for Diagnosis of Congenital Malformation at the Institute of PPMH in 11 fetuses with Patau Syndrome ultrasound and echocardiography examination were performed. In our study the most of cases come from low risk of pregnant women. Fetal heart defect was the most common anomaly diagnosed prenatally in fetuses with Patau Syndrome (7/11), the second one were central nervous system anomalies (6/11) and genitourinary system anomalies (6/11).

  20. Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy

    Science.gov (United States)

    Kolarski, Milenko; Ahmetovic, Begzudin; Beres, Maja; Topic, Radomir; Nikic, Vedran; Kavecan, Ivana; Sabic, Semin

    2017-01-01

    Introduction: Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks’, 1 in 30,000 at 16 weeks’, and 1 in 250,000 at 20 weeks’ gestation. Case report: We present a case of second-trimester triploidy diagnosed prenataly at our center. 28-years-old gravida with a first spontaneous pregnancy had early gestational hypertension. Ultrasound examination in 146/7 weeks’ gestation revealed asymmetric intrauterine growth retardation. We recommended biochemical maternal serum screening during second trimester of pregnancy (AFP, HCG, uE3). Result of biochemical screening was indication for cytogenetic analysis from amniotic fluid cells and we recommended early amniocentesis in 156/7 weeks’ gestation. Result showed abnormal karyotype of the fetus (69,XXX triploidy), and DNA analysis confirmed Type-2 Diginy. Parents decided to terminate this pregnancy, and it was done at 22 weeks’ gestation. Conclusion: We emphasize the importance of non-invasive prenatal exminationes-biochemical serum screening during second trimester of pregnancy, and ultrasound examinations in prenatal screening of syndroma Down and other chromosomal abnormalities. PMID:28790549

  1. Neuroimaging parameters in early open spina bifida detection. Further benefit in first trimester screening?

    Science.gov (United States)

    Iliescu, D; Comănescu, A; Antsaklis, P; Tudorache, Stefania; Ghiluşi, Mirela; Comănescu, Violeta; Paulescu, Daniela; Ceauşu, Iuliana; Antsaklis, A; Novac, Liliana; Cernea, N

    2011-01-01

    Morphological investigation of the central nervous system (CNS) in fetuses with positive markers for open spina bifida (OSB) detection, visualized by ultrasound during the first trimester of pregnancy. Data from fetuses that underwent routine first trimester ultrasound scan in our center during September 2007-March 2011 and presented abnormal aspects of the fourth ventricle, also referred as intracranial translucency (IT), provided the morphological support to evaluate CNS features. A neuro-histological study of posterior cerebral fossa illustrated anatomical features of the structures involved in the sonographic first trimester detection of neural tube defects. Abnormal IT aspects were found in OSB cases examined in the first trimester, but also in other severe cerebral abnormalities. Brain stem antero-posterior diameter (BS) and brain stem to occipital bone (BSOB) ratio may be more specific for OSB detection. Correlations between histological aspects of posterior brain fossa and ultrasound standard assessment have been made; highlighting the anatomical features involved by the new techniques developed for OSB early detection. Preliminary results show that modern sonographic protocols are capable to detect abnormalities in the morphometry of the posterior brain. First trimester fourth ventricle abnormalities should be followed by careful CNS evaluation because are likely to appear in OSB affected fetuses, but also in other CNS severe anomalies; in such cases, normal BS and BSOB ratio may serve as indirect argument for spine integrity, if specificity is confirmed in large series of fetuses.

  2. Ethanol exposure during the early first trimester equivalent impairs reflexive motor activity and heightens fearfulness in an avian model.

    Science.gov (United States)

    Smith, Susan M; Flentke, George R; Kragtorp, Katherine A; Tessmer, Laura

    2011-02-01

    Prenatal alcohol exposure is a leading cause of childhood neurodevelopmental disability. The adverse behavioral effects of alcohol exposure during the second and third trimester are well documented; less clear is whether early first trimester-equivalent exposures also alter behavior. We investigated this question using an established chick model of alcohol exposure. In ovo embryos experienced a single, acute ethanol exposure that spanned gastrulation through neuroectoderm induction and early brain patterning (19-22h incubation). At 7 days posthatch, the chicks were evaluated for reflexive motor function (wingflap extension, righting reflex), fearfulness (tonic immobility [TI]), and fear/social reinstatement (open-field behavior). Chicks exposed to a peak ethanol level of 0.23-0.28% were compared against untreated and saline-treated controls. Birds receiving early ethanol exposure had a normal righting reflex and a significantly reduced wingflap extension in response to a sudden descent. The ethanol-treated chicks also displayed heightened fearfulness, reflected in increased frequency of TI, and they required significantly fewer trials for its induction. In an open-field test, ethanol treatment did not affect latency to move, steps taken, vocalizations, defecations, or escape attempts. The current findings demonstrate that early ethanol exposure can increase fearfulness and impair aspects of motor function. Importantly, the observed dysfunctions resulted from an acute ethanol exposure during the period when the major brain components are induced and patterned. The equivalent period in human development is 3-4 weeks postconception. The current findings emphasize that ethanol exposure during the early first trimester equivalent can produce neurodevelopmental disability in the offspring.

  3. First trimester screening using ultrasound and serum markers in Panamanians : f0 actors associated with adverse pregnancy outcomes

    Directory of Open Access Journals (Sweden)

    Tania T Herrera

    2014-01-01

    Full Text Available Background: There is no published data on the association between serum biochemical and ultrasonographic markers and adverse pregnancy outcomes. Therefore, the aim of this study was to determine the factors associated with perinatal outcomes in singleton pregnancies using ultrasound and maternal serum markers during the first trimester in Panamanians. Materials and Methods: This was a prospective observational study of 468 first trimester singleton pregnancies conducted over a 7-year period. All women attending a prenatal screening clinic during the study period were informed of the study and the option to participate. Two maternal serum markers, free β-human chorionic gonadotropin (β-hCG and pregnancy associated plasma protein-A (PAPP-A, and four fetal ultrasound markers, nuchal translucency thickness, nasal bone, flow across the tricuspid valve, and flow in the ductus venosus (DV, were measured by certified maternal fetal medicine specialists. Adverse outcomes included miscarriage, major structural defects, genetic disorders, and major fetal cardiac defects. Results: A total of 454 (97% pregnancies were unaffected. Median maternal age was 31.5 years (range: 18-50. Maternal age was significantly greater in cases of adverse outcome (P = 0.007. The number of adverse outcomes associated with an absent or hypoplastic nasal bone, tricuspid valve regurgitation, and abnormal flow in the DV were significantly greater relative to unaffected pregnancies (Ps < 0.001. No differences were found in fetal crown-rump length or maternal serum levels of β-hCG or PAPP-A. Conclusion: Abnormal ultrasound markers are associated with adverse outcomes. Women with normal ultrasound and serum markers should be reassured of low risk of adverse pregnancy outcomes.

  4. Prenatal Diagnosis of Cloacal Exstrophy: A Case Report and Differential Diagnosis with a Simple Omphalocele

    Directory of Open Access Journals (Sweden)

    Ching-Yu Chou

    2015-03-01

    Full Text Available Cloacal exstrophy is a rare congenital disorder that may lead to mortality and morbidity. Although the prenatal diagnosis of cloacal exstrophy can be made by a midtrimester ultrasound, it is difficult to differentiate it from a simple omphalocele that can be corrected completely by surgery without morbidity. We reported a case with cloacal exstrophy and reviewed previous literature on differentiating it from an omphalocele. A 33-year-old, pregnant female visited our outpatient center for prenatal care at the 22nd gestational week. The midtrimester ultrasound showed fetal anomalies including a protruding mass from umbilicus, absence of bladder, ambiguous genitalia, and bilateral renal hydronephrosis. The parents received prenatal genetic counseling and decided to continue the pregnancy. A female baby was delivered at the 37th gestational week via vaginal delivery, and cloacal exstrophy without omphalocele was diagnosed. Cloacal exstrophy is a complicated congenital disorder that should be differentiated from a simple omphalocele. Prenatal counseling and postnatal care in a tertiary medical center are important for parents and the fetus, respectively.

  5. Bibliometic analysis on the prenatal screening and diagnosis of Down' s syndrome in China%国内唐氏综合征产前筛查及诊断研究文献计量分析

    Institute of Scientific and Technical Information of China (English)

    陈云香; 王书平; 王坤; 惠文; 李雪; 吴华章

    2013-01-01

    目的 系统分析国内关于唐氏综合征产前筛查和产前诊断研究的文献,为制定适合我国国情的产前筛查方案提供参考.方法 以“唐氏综合征”或“DS”、“产前筛查”和“产前诊断”为主题词,对中国期刊全文专题数据库等的文献进行检索,检索年限为1987-2012年.并对符合纳入标准的文献进行数据提取和统计分析.结果 检索到符合纳入标准的文献90篇.统计分析结果显示我国产前筛查的策略主要是孕中期的血清学二联筛查,产前诊断的取样方法主要是羊膜腔穿刺,诊断方法主要为染色体核型分析.结论 选择合适的筛查策略及截断值是目前产前筛查的重要研究方向,增加筛查指标及采用孕早期联合筛查将是我国未来产前筛查的趋势.%Objective To systematically analyze the domestic articles about prenatal screening and diagnosis of down's syndrome and provide basis for formulating new prenatal screening plan suitable for current conditions in China. Methods We searched the full text databases of China with subject terms containing "down's syndrome"/ "DS", " prenatal screening" and "prenatal diagnosis" and defining the published year between 1987 and 2012. After that, the data from the articles meeting the criteria was extracted and analyzed statistically. Results Totally 90 articles were included in the study. Statistical analysis showed that the strategy of prenatal screening in China is mainly in the second-trimester with serological double marker screening, prenatal diagnosis sampling method is mainly amniocentesis(AC), diagnosis methods mainly the analysis of the chromosome karyotypes. Conclusions Choosing appropriate screening strategies and truncation value are currently important research directions of prenatal screening, increasing the screening indexes and screening in the first-trimester will be the trend of prenatal screening in the future in China.

  6. Is a prenatal diagnosis detrimental to the survival of a fetus with trisomy 18?

    Science.gov (United States)

    Morris, Joan K

    2016-04-01

    As trisomy 18 is so rare any individual study is unlikely to have a sufficient number of cases to examine whether a prenatal diagnosis is advantageous or detrimental to the survival of these infants. Estimates of survival in prenatally diagnosed live births have been obtained by combining data from individual hospitals, whereas estimates of survival in postnatally diagnosed live births have been obtained from large population studies linking cytogenetic registers to national mortality registers. The estimates of survival are often lower in the prenatally diagnosed series. However, comparing estimates from these two different sources is not valid; both sources are subject to different biases. At present, there is insufficient information available to indicate that receiving a prenatal diagnosis of trisomy 18 is detrimental to the survival of a foetus with trisomy 18. A prenatal diagnosis does enable the parents and clinicians time to reach a consensus on how best to care for the baby.

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

    Directory of Open Access Journals (Sweden)

    Javier Sánchez

    2012-01-01

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

  8. Prenatal diagnosis of isolated right pulmonary agenesis using sonography alone: case study and systematic literature review.

    Science.gov (United States)

    Meller, Cesar H; Morris, R Katie; Desai, Tarak; Kilby, Mark D

    2012-12-01

    Pulmonary agenesis is a rare congenital anomaly, estimated to complicate around 1 per 15,000 pregnancies, in which there is complete absence or severe hypoplasia of one or both lungs, frequently associated with other abnormalities. A prospective prenatal diagnosis is a challenge, and a substantial proportion of cases are diagnosed by fetal magnetic resonance imaging, postnatal computed tomography, or postmortem. Thus, there are only a few reported cases of prenatal diagnosis in the literature. We report the prenatal diagnosis of isolated right lung agenesis diagnosed with sonography alone at a relatively early gestational age. We also present a systematic review of the literature for this condition to accompany this case study.

  9. Chromosomal mosaicism of extraembryonic cells detected by prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Zolotukhina, T.V.; Shilova, N.V. [Institute of Clinical Genetics, Moscow (Russian Federation)

    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.

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

    Science.gov (United States)

    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.

  11. Efficacy of Combination Therapy with Methotrexate and Misoprostol in Termination of Pregnancy in the First Trimester

    Directory of Open Access Journals (Sweden)

    Mohammad Taghi Shakeri

    2009-06-01

    Full Text Available Background: Induced abortion is the medical or surgical terminationof pregnancy before fetal viability. It has maternal orfetal indications. The aim of the present study was to evaluatethe efficacy of the combination of methotrexate and misoprostolfor termination of the pregnancy in the first trimester.Methods: This analytic study was performed on 100 women atthe first trimester of pregnancy (9 weeksand 24 has gestational age9 weeks and22 patients with gestational age <9 weeks had complete abortion.Failure rate was higher in missed abortion. Required doseof misoprostol and duration of conceptus expulsion werehigher in pregnancies with missed abortion.Conclusion: Combination therapy with methotrexate and misoprostolrepresents a safe and effective alternative to invasivemethods for termination of the pregnancy in the first trimester.

  12. First-trimester screening markers are altered in pregnancies conceived after IVF/ICSI

    DEFF Research Database (Denmark)

    Gjerris, A C; Loft, A; Pinborg, A

    2009-01-01

    -A multiples of the median value was significantly decreased when compared with that of pregnancies conceived spontaneously (0.78 and 0.79 vs. 0.98), while there was no difference in the group treated by frozen embryo replacement. There was no difference in the level of free beta-human chorionic gonadotropin......OBJECTIVES: To determine the levels of first-trimester screening markers and to assess the false-positive rate for first-trimester combined screening for Down syndrome in a large national population of women pregnant after assisted reproductive technology (ART), in order to decide whether...... or not to correct risk calculation for mode of conception. METHODS: A national prospective cohort study of 1000 pregnancies achieved after ART was compared with a control group of 2543 pregnancies conceived spontaneously. All women completed a first-trimester combined screening program. Risk calculation...

  13. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.

    NARCIS (Netherlands)

    Chen, E.Z.; Chiu, R.W.; Sun, H.; Akolekar, R.; Chan, K.C.; Leung, T.Y.; Jiang, P.; Zheng, Y.W.; Lun, F.M.; Chan, L.Y.; Jin, Y.; Go, A.T.; Lau, E.T; To, W.W.; Leung, W.C.; Tang, R.Y.; Au-Yeung, S.K.; Lam, H.; Kung, Y.Y.; Zhang, X.; Vugt, J.M.G. van; Minekawa, R.; Tang, M.H.; Wang, J.; Oudejans, C.B.; Lau, T.K.; Nicolaides, K.H.; Lo, Y.M.

    2011-01-01

    Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due t

  14. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.

    NARCIS (Netherlands)

    Chen, E.Z.; Chiu, R.W.; Sun, H.; Akolekar, R.; Chan, K.C.; Leung, T.Y.; Jiang, P.; Zheng, Y.W.; Lun, F.M.; Chan, L.Y.; Jin, Y.; Go, A.T.; Lau, E.T; To, W.W.; Leung, W.C.; Tang, R.Y.; Au-Yeung, S.K.; Lam, H.; Kung, Y.Y.; Zhang, X.; Vugt, J.M.G. van; Minekawa, R.; Tang, M.H.; Wang, J.; Oudejans, C.B.; Lau, T.K.; Nicolaides, K.H.; Lo, Y.M.

    2011-01-01

    Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due t

  15. Analysis of Prenatal diagnosis results of trisomy 18 fetus%18-三体综合征胎儿的产前诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    韩瑾; 何平; 廖灿; 张蒙; 甄理; 杨昕; 潘敏; 李东至; 易翠兴; 袁思敏; 钟慧珠

    2016-01-01

    Objective To assess clinical application of prenatal diagnosis in trisomy 18 during pregnancy.Methods A total of 13 354 cases received invasive prenatal diagnosis at Prenatal Diagnosis Center,Guangzhou Woman and Children′s Medical Center between January 2010 and August 2014. Among them, 95 fetus were diagnosed as trisomy 18.Three prenatal diagnostic methods included chorionic villi biopsy (1 1-13 +6 gestational weeks),amniocentesis (1 6-24 gestational weeks)and percutaneous puncture of umbilical cord (> 24 gestational weeks).The indications of prenatal diagnosis, abnormal karyotype of chromosome of fetus, and ultrasonic abnormal manifestations of 95 cases with trisomy 18 were analyzed.The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Guangzhou Woman and Children′s Medical Center.Informed consent was obtained from each participates.Results ① Indications:46 cases (48.5%)of 95 cases were high risk in the first trimester screening,47 cases (48.4%)were high risk in the second and third trimester,the remaining 2 cases of indications were high risk in non-invasive prenatal test (NIPT)and carriers ofα-thalassemia.Furthermore,among 95 cases with trisomy 18,33 pregnant women underwent chorionic villi biopsy, 46 underwent amniocentesis, and other 1 6 underwent percutaneous puncture of umbrlical cord.② Chromosome karyotypes:except of 91 cases (95.8%)simple karyotype of trisomy 18,4 cases (4.2%)were chromosome mosaic.Among them, 2 cases of mosaic ratio than 20% were found structure abnormalities in the first trimester screening. One in 1 1.0% was high risk in the second trimester screening.One in 8.0% had no findings in the first and second trimester screening,while had fetal growth restriction (FGR)in the third trimester.③ The main ultrasound findings in the first trimester of 38 cases (82.6%)were nuchal translucency (NT)thickening,nasal bone absence or hypoplasia,cystic hygroma,omphalocele and anencephaly, another 40

  16. [From diagnosis to decision--decision processes of women in the context of prenatal diagnosis].

    Science.gov (United States)

    Baldus, M

    2001-01-01

    Prenatal diagnosis is a growth industry. The constant introduction of new prenatal tests poses great challenges to prospective parents. In Germany, guidelines for prenatal care include an early nuchal-translucency-sonogram as a routine screening for down syndrome. Developer of this screening predict a 90% discovery rate. This rate can be achieved through the combination of early maternal serum examinations, computer assisted risk calculation and the nuchal-translucency measurement. The extensive use of diverse new technologies is driven by two forces; first, the parents' fear of giving birth to a child with a disability, and second, the offensive marketing strategies by the test-making industry. The information that these tests can yield is vast, yet parents' range of choices in response to these test results remain very limited. After a battery of diagnostic tests, parents confronted with the diagnosis of down syndrome can choose only between continuing or terminating the pregnancy. In the future, more and more women and their partners will be confronted with such a difficult decision. Adequate professional counseling is needed to help parents cope with the critical life event of being told a positive test result. Solutions have to be developed on an individual basis and need to be grounded on the parents' needs. Informing parents of a positive diagnosis can be a challenging moment in professional life. The professional needs to act with sensitivity and competence. The informations he or she provides have to been well balanced. It is necessary to develop quality assurance standards for counseling, diagnosis and crisis intervention.

  17. Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.

    OpenAIRE

    1989-01-01

    The close genetic linkage between the loci for apolipoprotein CII (ApoCII) and myotonic dystrophy makes presymptomatic detection and prenatal diagnosis feasible. We report three years' service experience of providing presymptomatic detection and prenatal diagnosis for myotonic dystrophy in 99 families. Careful clinical study of older family members remains important. The introduction of new probes (CKMM and BCL4) has helped to solve the problem of uninformativeness owing to unhelpful genotype...

  18. Prenatal diagnosis of open spina bifida in Emilia-Romagna.

    Science.gov (United States)

    Ghi, Tullio; Cocchi, Guido; Conti, Letizia; Pacella, Giuseppina; Youssef, Aly; Rizzo, Nicola; Pilu, Gianluigi

    2015-01-01

    To report recent data on the epidemiology of pregnancies affected by open spina bifida in the Emilia-Romagna region of Italy. All cases of open spina bifida diagnosed in the Emilia-Romagna region between 2001 and 2011 and reported to the IMER regional registry were included in the study group. The pregnancy outcome was retrospectively assessed. In the study period out of 390,978 babies born in Emilia-Romagna 126 cases of open spina bifida were reported to the IMER registry, resulting in a global prevalence of 3.2 per 10,000 births. Prenatal diagnosis was achieved in the vast majority of these cases (105/126; 83.3%) and in a great proportion of those women (85/105; 80.9%) who opted for termination of pregnancy. In a wide region of northern Italy where ultrasound anomaly scan is routinely offered to the general population, the vast majority of cases of open spina bifida are diagnosed antenatally and terminated electively. © 2015 S. Karger AG, Basel.

  19. Prenatal diagnosis of fetal lung maturity by magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Itoh, Hitoshi; Kakizaki, Dai; Nagai, Atsushi; Akutagawa, Osamu; Itokazu, Isao; Iso, Kazuo; Abe, Kimihiko; Takayama, Masaomi [Tokyo Medical Coll. (Japan); Nohira, Tomoyoshi [Tokyo Medical Coll. (Japan). Hachioji Medical Center

    2003-04-01

    The objective of this study was to evaluate the usefulness of magnetic resonance imaging (MRI) for prenatal diagnosis of fetal lung maturity. The subjects comprised 28 singleton fetuses, and underwent MRI in the third trimester (32.71{+-}3.00 wks). After obtaining axial and coronal scout images of the whole pelvis, we obtained a transverse image, a coronal image and a sagittal image of fetuses with a half-Fourier acquisition single-shot turbo-spin-echo (HASTE) sequence, determined the intensity level of the fetal lung (right lung intensity level: RL, left lung intensity level: LL). The intensity level of background outside of the maternal body was obtained as the control intensity level (CL). The contrast value (CV) of each fetal lung was calculated by the numerical formula; CV=(RL or LL-CL)/CL. We evaluated the changes of CV during the third trimester and relationship between CV and gestational weeks. There was no significant correlation between gestational weeks and RL (P=.3887), LL (P=.2367). There was a significant increase in both right and left CV (RCV=(RL-CL)/CL: P=.0108, LCV=(LL-CL)/CL: P=.0165) with gestational age. It was suggested that the fetal lung maturation could be diagnosed with HASTE using the CV formula. (author)

  20. Maternal urinary beta-core hCG in chromosomally abnormal pregnancies in the first trimester

    NARCIS (Netherlands)

    Kornman, LH; Morssink, LP; Wortelboer, MJM; Beekhuis, [No Value; DeWolf, BTHM; Pratt, JJ; Mantingh, A

    We evaluated urinary beta-core human chorionic gonadotropin (beta-core hCG) in the detection of fetal Down's syndrome (DS) in the first trimester of pregnancy. Urine was collected prior to performing chorionic villous sampling (CVS) between 10 and 12 completed weeks from the last menstrual period.

  1. Fetal first trimester growth is not associated with kidney outcomes in childhood

    NARCIS (Netherlands)

    H. Bakker (Hanneke); R. Gaillard (Romy); A. Hofman (Albert); I.K.M. Reiss (Irwin); E.A.P. Steegers (Eric); V.W.V. Jaddoe (Vincent)

    2016-01-01

    textabstractBackground: Impaired fetal growth is associated with increased risks of kidney diseases in later life. Because human development rates are highest during the first trimester, this trimester may be a particularly critical period for kidney outcomes. We have therefore examined the associat

  2. Maternal first-trimester diet and childhood bone mass: The Generation R Study

    NARCIS (Netherlands)

    D.H.M. Heppe (Denise); C. Medina-Gomez (Carolina); A. Hofman (Albert); O.H. Franco (Oscar); F. Rivadeneira Ramirez (Fernando); V.W.V. Jaddoe (Vincent)

    2013-01-01

    textabstractBackground: Maternal diet during pregnancy has been suggested to influence bone health in later life. Objective: We assessed the association of maternal first-trimester dietary intake during pregnancy with childhood bone mass. Design: In a prospective cohort study in 2819 mothers and the

  3. First trimester maternal serum alpha-fetoprotein is not raised in pregnancies with open spina bifida.

    Science.gov (United States)

    Spencer, Kevin; Khalil, Asma; Brown, Louise; Mills, Ian; Horne, Hannah

    2014-02-01

    Two recent studies have suggested that maternal serum alpha fetoprotein (AFP) levels are increased in the first trimester of pregnancies in which the fetus has an open spina bifida. This is contrary to previously published studies. This study assesses further whether maternal serum AFP is elevated in the first trimester in cases with open spina bifida. Cases with open spina bifida were identified from our fetal database, and corresponding first trimester screening samples were retrieved and analysed for maternal serum AFP. A control group was selected by taking three samples matched for gestational age (exact day), ethnicity and smoking status and received in the laboratory on the same day. AFP was measured with the Kryptor platform and free β-hCG and pregnancy-associated plasma protein A results were available from the fetal database. Thirty-nine open spina bifida cases were identified with a control group of 126 cases. The median multiple of the median AFP in the cases were not significantly different from the controls (0.92 vs 1.06 p = 0.3511) as was the case for free β-hCG (0.87 vs 0.95 p = 0.7146) and pregnancy-associated plasma protein A (1.04 vs 1.04 p = 0.261). Our results confirm that maternal serum biochemical markers in the first trimester are unable to distinguish cases in which the fetus has open spina bifida. © 2013 John Wiley & Sons, Ltd.

  4. Maternal leptin and body composition in the first trimester of pregnancy.

    LENUS (Irish Health Repository)

    Fattah, Chro

    2012-02-01

    BACKGROUND: Leptin is produced mainly by adipocytes. Levels are increased in women with obesity and during pregnancy. Increased levels are also associated with pregnancy complications such as, pre-eclampsia and gestational diabetes mellitus. OBJECTIVE: We studied what component of body composition correlated best with maternal leptin in the first trimester of pregnancy and, whether maternal leptin correlated better with visceral fat rather than fat distributed elsewhere. SUBJECTS AND METHODS: Women were recruited in the first trimester. Maternal adiposity was measured using body mass index and advanced bioelectrical impedance analysis. Maternal leptin was measured using an enzyme-linked immunosorbent assay technique. RESULTS: Of the 100 subjects studied, the mean leptin concentration was 37.7 ng\\/ml (range: 2.1-132.8). Leptin levels did not correlate with gestational age in the first trimester, maternal age, parity or birth weight. Serum leptin correlated positively with maternal weight and body mass index, and with the different parameters of body composition. On multiple regression analysis, serum leptin correlated with visceral fat but not fat distributed elsewhere. CONCLUSIONS: Visceral fat is the main determinant of circulating maternal leptin in the first trimester of pregnancy. This raises the possibility that maternal leptin in early pregnancy may be a marker for the development of metabolic syndrome, including diabetes mellitus.

  5. Absolute first trimester cell-free DNA levels and their associations with adverse pregnancy outcomes

    NARCIS (Netherlands)

    Thurik, Florentine F; Lamain-de Ruiter, Marije; Javadi, Ahmad; Kwee, Anneke; Woortmeijer, Heleen; Page-Christiaens, Godelieve C M L; Franx, Arie; van der Schoot, C Ellen; Koster, Maria P H

    2016-01-01

    OBJECTIVE: To study associations of first trimester cell-free fetal DNA levels (in this paper referred to as cell-free placental DNA (cfpDNA) levels) and preeclampsia (PE), pregnancy-induced hypertension (PIH), gestational diabetes (GDM) and spontaneous preterm birth (sPB). METHOD: A nested case-con

  6. Maternal weight and body composition in the first trimester of pregnancy.

    LENUS (Irish Health Repository)

    Fattah, Chro

    2012-02-01

    OBJECTIVE: Previous studies on weight gain in pregnancy suggested that maternal weight on average increased by 0.5-2.0 kg in the first trimester of pregnancy. This study examined whether mean maternal weight or body composition changes in the first trimester of pregnancy. DESIGN: Prospective observational study. POPULATION: We studied 1,000 Caucasian women booking for antenatal care in the first trimester of pregnancy. SETTING: Large university teaching hospital. METHODS: Maternal height and weight were measured digitally in a standardized way and Body Mass Index (BMI) was calculated. Maternal body composition was measured using segmental multifrequency Bioelectrical Impedance Analysis (BIA). Sonographic examination confirmed the gestational age and a normal ongoing singleton pregnancy in all subjects. MAIN OUTCOME MEASURES: Maternal weight, maternal body composition. RESULTS: The mean BMI was 25.7 kg\\/m(2) and 19.0% of the women were in the obese category (> or =30.0 kg\\/m(2)). Cross-sectional analysis by gestational age showed that there was no change in mean maternal weight, BMI, total body water, fat mass, fat-free mass or bone mass before 14 weeks gestation. CONCLUSIONS: Contrary to previous reports, mean maternal weight and mean body composition values remain unchanged in the first trimester of pregnancy. This has implications for guidelines on maternal weight gain during pregnancy. We also recommend that calculation of BMI in pregnancy and gestational weight gain should be based on accurate early pregnancy measurements, and not on self-reported or prepregnancy measurements.

  7. Maternal and perinatal outcome in women with threatened abortion in first trimester

    Directory of Open Access Journals (Sweden)

    Meenal S. Sarmalkar

    2016-05-01

    Conclusions: Pregnant women with first trimester threatened abortion are at increased risk for spontaneous loss and adverse pregnancy outcomes. Knowledge of these risks may help the obstetricians to manage these cases vigorously in the antepartum period and do timely interventions as needed for a healthy mother and baby. [Int J Reprod Contracept Obstet Gynecol 2016; 5(5.000: 1438-1445

  8. First trimester maternal serum placental growth factor in trisomy 21 pregnancies.

    Science.gov (United States)

    Cowans, N J; Stamatopoulou, A; Spencer, K

    2010-05-01

    To examine placental growth factor (PlGF) levels in first trimester maternal serum in trisomy 21 pregnancies and to investigate the potential value of PlGF in a first trimester screening test. First trimester maternal serum from 70 trisomy 21 cases and 375 euploid controls were retrospectively analyzed for PlGF using a DELFIA Xpress immunoassay platform. Results were expressed as multiples of medians (MoM) for comparison. PlGF levels were significantly decreased in pregnancies with trisomy 21, 0.76 MoM versus 0.98 MoM in controls. Inclusion of PlGF into the first trimester combined test [maternal age, pregnancy associated plasma protein-A (PAPP-A), free-beta human chorionic gonadotrophin (beta-hCG) and nuchal translucency] would increase the detection rate by 0.5% at a 5% false positive rate. PlGF at 11 weeks to 13 weeks 6 days has the potential to be included as a marker for the detection of pregnancies with trisomy 21.

  9. Maternal urinary beta-core hCG in chromosomally abnormal pregnancies in the first trimester

    NARCIS (Netherlands)

    Kornman, LH; Morssink, LP; Wortelboer, MJM; Beekhuis, [No Value; DeWolf, BTHM; Pratt, JJ; Mantingh, A

    1997-01-01

    We evaluated urinary beta-core human chorionic gonadotropin (beta-core hCG) in the detection of fetal Down's syndrome (DS) in the first trimester of pregnancy. Urine was collected prior to performing chorionic villous sampling (CVS) between 10 and 12 completed weeks from the last menstrual period. I

  10. Adiposity and hyperleptinemia during the first trimester among pregnant women with preeclampsia.

    Science.gov (United States)

    Yeboah, Francis Agyemang; Ngala, Robert Amadu; Bawah, Ahmed Tijani; Asare-Anane, Henry; Alidu, Huseini; Hamid, Abdul-Wahab Mawuko; Wumbee, Joshua Dokurugu Kwame

    2017-01-01

    Leptin levels start increasing from the early stages of pregnancy, irrespective of the maternal body mass index. Leptin levels are increased in pregnant women with preeclampsia (PE) and may precede the clinical onset of the disease, with peaks occurring around 28 weeks of gestation. This study was aimed at determining whether serum leptin concentration and body fat percentage are significantly altered during the first trimester in pregnancies that subsequently develop PE and whether such changes are useful in predicting the disease. This was a prospective longitudinal study conducted among pregnant women in Ho municipality. A cohort of 314 pregnant women was monitored from the first antenatal visit to delivery period at the Volta Regional Hospital, Ho, Ghana. Maternal serum leptin and lipid profile were analyzed and body fat percentage determined during first trimester. Body mass index was also calculated. First trimester serum leptin level (Pbody fat percentage (P<0.0001) were significantly higher in those who developed PE than those who did not; while triglycerides (P=0.8600), total cholesterol (P=0.5620), high-density lipoprotein (P=0.5880), low-density lipoprotein (P=0.4870) and very low-density lipoprotein (P=0.6540) did not show any significant difference between those with PE and those without PE. Leptin levels are increased significantly during the first trimester of pregnancy in obese women with PE, and these increases precede the onset of PE.

  11. Alcohol reduction in the first trimester is unrelated to smoking, patient or pregnancy characteristics

    Directory of Open Access Journals (Sweden)

    Kristen A. Schmidt

    2017-06-01

    Conclusions: Women reported reducing their alcohol consumption during pregnancy, including those screening positive for pre-pregnancy problem drinking. First trimester alcohol reduction cannot be accounted for by smoking, patient or pregnancy characteristics; public health initiatives, psychological factors and hormonal mechanisms may be implicated.

  12. Risk factors and outcomes associated with first-trimester fetal growth restriction

    NARCIS (Netherlands)

    D.O. Mook-Kanamori (Dennis); E.A.P. Steegers (Eric); P.H.C. Eilers (Paul); H. Raat (Hein); A. Hofman (Albert); V.W.V. Jaddoe (Vincent)

    2010-01-01

    textabstractContext: Adverse environmental exposures lead to developmental adaptations in fetal life. The influences of maternal physical characteristics and lifestyle habits on first-trimester fetal adaptations and the postnatal consequences are not known. Objective: To determine the risk factors

  13. Preterm delivery in women with low PAPP-A at first trimester screening

    Directory of Open Access Journals (Sweden)

    Razieh Mohamad Jafari

    2014-10-01

    Conclusion: We found high frequency of preterm delivery in pregnant women with low PAPP-A level at the first trimester screening. Hence, this group of patients needs special and early preventive management. Furthermore, we suggest that future researches to be conducted with larger sample size and also cervix length measurement to be included.

  14. Characteristics of first-trimester screening of non-responders in a high-uptake population

    DEFF Research Database (Denmark)

    Wolf, Hanne Trap; Wulff, Camilla Bernt; Ekelund, Charlotte

    2016-01-01

    INTRODUCTION: Our aim was to compare demographic, social and reproductive health-related medical factors between women who did and women who did not undergo combined first-trimester screening (cFTS) and to examine their reasons for declining a screening offer, especially whether non...... with the following factors: country of origin other than Denmark (p education (p

  15. The use of cffDNA in fetal sex determination during the first trimester of pregnancy of female DMD carriers

    National Research Council Canada - National Science Library

    Wu, Dong; Hou, Qiaofang; Li, Tao; Chu, Yan; Guo, Qiannan; Kang, Bing; Liao, Shixiu

    2012-01-01

    Chorionic villus sampling (CVS) or amniocentesis for fetal sex determination is generally the first step in the prenatal diagnosis of X-linked genetic disorders such as Duchenne muscular dystrophy (DMD...

  16. Prenatal Diagnosis and Pathology of Laryngeal Atresia in Congenital High Airway Obstruction Syndrome

    Directory of Open Access Journals (Sweden)

    Piya Chaemsaithong

    2012-01-01

    Full Text Available Congenital high airway obstruction syndrome is a rare but life-threatening condition. Therefore, prenatal diagnosis is important. The obstruction can be due to laryngeal/tracheal atresia or external compression. While a differential diagnosis with congenital cystic adenomatoid malformation (CCAM type III may be difficult, it is still possible with ultrasonography. In this study, we report a case of bilateral echogenic lungs with hydrops fetalis. After the prenatal diagnosis of laryngeal atresia, the couple opted to have an elective termination of pregnancy performed at 20 weeks of gestation. The diagnosis was confirmed by a complete pathological examination.

  17. Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986-1999.

    Science.gov (United States)

    Forrester, Mathias B; Merz, Ruth D

    2003-06-15

    Sex chromosome abnormalities such as Turner syndrome, Klinefelter syndrome, triple X syndrome, and 47,XYY can be prenatally diagnosed and electively terminated. This investigation examined the pattern of pregnancy outcome of prenatally and postnatally diagnosed sex chromosome abnormalities in Hawaii during 1986-1999 and calculated prenatal diagnosis and subsequent elective termination rates for various factors. Data were obtained from a statewide population-based birth defects registry. The study included 205 detected sex chromosome abnormality cases of which 93 (45%) were live births, 18 (9%) late fetal deaths, 37 (18%) early fetal deaths, and 57 (28%) elective terminations. Pregnancy outcome distribution varied by type of sex chromosome abnormality. Prenatal diagnosis was reported for 132 (64%) of the cases, of which 46 (35%) were subsequently electively terminated. Eleven cases were elective terminations where the sex chromosome abnormality was diagnosed after delivery. Elective termination rates subsequent to prenatal diagnosis differed by sex chromosome abnormality, being highest for 45,X (54%), followed by 47,XXY (46%), 47,XYY (29%), and 47,XXX (17%). Although prenatal diagnosis rates increased significantly over the time period (P = 0.006), the subsequent elective termination rate declined slightly, albeit the trend was not statistically significant (P = 0.440). The prenatal diagnosis rate was highest for the 35-39-year maternal age group, although this age group did not have subsequent elective termination rates higher than other maternal age groups. Pregnancy outcome distribution and prenatal diagnosis and subsequent elective termination of sex chromosome abnormalities appeared to depend on the type of sex chromosome abnormality, year of delivery, and maternal age.

  18. Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

    Science.gov (United States)

    Wigby, Kristen; D'Epagnier, Cheryl; Howell, Susan; Reicks, Amy; Wilson, Rebecca; Cordeiro, Lisa; Tartaglia, Nicole

    2016-11-01

    Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing. Medical and developmental features were compared between the prenatal and postnatal diagnosis groups using rate calculations and Fisher's exact test. Cognitive and adaptive tests scores were compared using t-tests. Seventy-four females age 6 months-24 years (mean 8.3 years) participated. Forty-four (59.5%) females were in the prenatal diagnosis group. Mean age of postnatal diagnosis was 5.9 years; developmental delay was the most common indication for postnatal genetic testing. Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorders (44.4%), seizure disorders (16.2%), genitourinary malformations (12.2%). The prenatal diagnosis group had higher verbal (P < 0.001), general ability index (P = 0.004), and adaptive functioning scores (P < 0.001). Rates of ADHD (52.2% vs. 45.5%, P = 0.77) and learning disabilities (39.1% vs. 36.3%, P = 1.00) were similar between the two groups. These findings expand on the phenotypic features in females with Triple X syndrome and support that prenatally ascertained females have better cognitive and functional outcomes. However, prenatally diagnosed females are still at risk for neurodevelopmental disorders. Genetic counseling and treatment recommendations are summarized. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  19. Fetal MRI in Prenatal Diagnosis of CNS Abnormalities

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-02-01

    Full Text Available The value of fetal MRI (fMRI compared to ultrasound in the prenatal detection of CNS abnormalities and impact on counseling were determined in 25 pregnant women examined at University of Dusseldorf, Germany.

  20. First trimester growth restriction and uterine artery blood flow in the second trimester as predictors of adverse pregnancy outcome

    DEFF Research Database (Denmark)

    Pedersen, N G; Sperling, L; Wøjdemann, K R;

    2013-01-01

    To investigate if fetuses with first trimester growth restriction have poorer perfusion of the placenta compared to a control group, and to investigate whether first trimester growth restriction in combination with poor flow in the uterine arteries in the second trimester can be used to predict...

  1. A double-blind randomized study of the effect of erythromycin in preventing pelvic inflammatory disease after first trimester abortion

    DEFF Research Database (Denmark)

    Sørensen, Jette Led; Thranov, I; Hoff, G

    1992-01-01

    To assess the prophylactic use of erythromycin in prevention of post-abortal pelvic inflammation disease (PID) in first trimester abortion.......To assess the prophylactic use of erythromycin in prevention of post-abortal pelvic inflammation disease (PID) in first trimester abortion....

  2. Free leptin index and PAPP-A: a first trimester maternal serum screening test for pre-eclampsia

    DEFF Research Database (Denmark)

    Hedley, Paula L; Placing, Sophie; Wøjdemann, Karen

    2010-01-01

    BACKGROUND: Prophylaxis with low-dose aspirin may reduce the risk of pre-eclampsia (PE) if introduced in first trimester. The performance of first trimester maternal serum screening for PE using free leptin index (fLI) and PAPP-A, where fLI = leptin/leptin soluble receptor was studied. METHODS...

  3. Dacryocystocele on prenatal ultrasonography: diagnosis and postnatal outcomes

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young Hwa; Lee, Yu Jin; Song, Mi Jin; Han, Byoung Hee; Lee, Young Ho; Lee, Kyung Sang [Dept. of Radiology, Cheil General Hospital and Women' s Healthcare Center, Catholic Kwandong University College of Medicine, Seoul (Korea, Republic of)

    2015-01-15

    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. 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. 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). 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.

  4. Prenatal Diagnosis of 17p13.1p13.3 Duplication

    Directory of Open Access Journals (Sweden)

    Kirsi Kiiski

    2012-01-01

    Full Text Available We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been defined as a new distinctive syndrome with several diagnosed patients. In the current case prenatal chromosome analysis (G-banding performed on cultured amniocytes revealed additional material in chromosome 19p. This was further defined as a chromosome 17p13.1p13.3 duplication by FISH and genomic microarray analysis (GMA. In addition Prenatal BACs-on-Beads (PN_BoBs assay was performed, which detected the duplication clearly. This enables rapid prenatal diagnosis of the duplication for this family in the future.

  5. First trimester screening for trisomy 21 in gestational week 8-10 by ADAM12-S as a maternal serum marker.

    Science.gov (United States)

    Tørring, Niels; Ball, Susan; Wright, Dave; Sarkissian, Gaïané; Guitton, Marie; Darbouret, Bruno

    2010-10-29

    A disintegrin and metalloprotease 12 (ADAM12-S) has previously been reported to be significantly reduced in maternal serum from women with fetal aneuploidy early in the first trimester and to significantly improve the quality of risk assessment for fetal trisomy 21 in prenatal screening. The aim of this study was to determine whether ADAM12-S is a useful serum marker for fetal trisomy 21 using the mixture model. In this case control study ADAM12-S was measured by KRYPTOR ADAM12-S immunoassay in maternal serum from gestational weeks 8 to 11 in 46 samples of fetal trisomy 21 and in 645 controls. Comparison of sensitivity and specificity of first trimester screening for fetal trisomy 21 with or without ADAM12-S included in the risk assessment using the mixture model. The concentration of ADAM12-S increased from week 8 to 11 and was negatively correlated with maternal weight. Log MoM ADAM12-S was positively correlated with log MoM PAPP-A (r = 0.39, P hCG (r = 0.21, P trisomy 21 in gestational week 8 was 0.66 increasing to approx. 0.9 MoM in week 9 and 10. The use of ADAM12-S along with biochemical markers from the combined test (PAPP-A, free beta hCG) with or without nuchal translucency measurement did not affect the detection rate or false positive rate of fetal aneuploidy as compared to routine screening using PAPP-A and free β-hCG with or without nuchal translucency. The data show moderately decreased levels of ADAM12-S in cases of fetal aneuploidy in gestational weeks 8-11. However, including ADAM12-S in the routine risk does not improve the performance of first trimester screening for fetal trisomy 21.

  6. Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report

    Institute of Scientific and Technical Information of China (English)

    CHEN Lian; ZHAO Yang-yu; WEI Yuan; WANG Yan; ZHANG Yan; WANG Yong-qing; LIU Jian-ying; YANG Yong; TAN Yan-hong

    2012-01-01

    Anhidrotic ectodermal dysplasia (EDA) is a relatively rare congenital hereditary disease.Because of a reduced number of sweat glands,patients are unable to perspire and consequently suffer from hyperthermia and infection.This is a potential cause of death in childhood.Domestic prenatal diagnosis methods focus on genetic diagnosis.But for some conditions,because of the uncertain molecular pathology,we need other methods to assist to in prenatal diagnosis.Here,we report one case of a new mutation locus which may be associated with EDA and the prenatal diagnosis of EDA by fetal skin bioosv under fetoscopy in mid pregnancy,combined with a review of the literature.

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

    Energy Technology Data Exchange (ETDEWEB)

    Roberts, R.G.; Cole, C.G.; Hart, K.A.; Bobrow, M.; Bentley, D.R. (Guy' s Hospital, London (England))

    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.

  8. Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome

    Directory of Open Access Journals (Sweden)

    Lutgardo García-Díaz

    2013-01-01

    Full Text Available A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction.

  9. Subclinical hypothyroidism in the first trimester of pregnancy in North India

    Directory of Open Access Journals (Sweden)

    Jubbin Jagan Jacob

    2013-01-01

    Full Text Available Subclinical hypothyroidism based on population and trimester specific cut-offs is reported to complicate 1-2% of all pregnancies. Using the recent Endocrine Society guidelines of 2.5 mIU/L of Thyroid Stimulating Hormone as the upper level of normal in the first trimester the reported prevalence of subclinical hypothyroidism is much higher. Recent publications have also emphasized that there is considerable racial variation in the prevalence of thyroid disorders in pregnancy. Among published literature North Indian women appear to have the highest rates of subclinical hypothyroidism in the first trimester of pregnancy. More widespread use of universal screening and trimester specific ranges in pregnancy for thyroid hormonal assays will lead to a large number of North Indian women requiring treatment for thyroid disorders in pregnancy.

  10. Characteristics of first-trimester screening of non-responders in a high-uptake population

    DEFF Research Database (Denmark)

    Wolf, Hanne Trap; Wulff, Camilla Bernt; Ekelund, Charlotte

    2016-01-01

    INTRODUCTION: Our aim was to compare demographic, social and reproductive health-related medical factors between women who did and women who did not undergo combined first-trimester screening (cFTS) and to examine their reasons for declining a screening offer, especially whether non-participation......INTRODUCTION: Our aim was to compare demographic, social and reproductive health-related medical factors between women who did and women who did not undergo combined first-trimester screening (cFTS) and to examine their reasons for declining a screening offer, especially whether non...... of a conscious choice based on ethical considerations, rather than being the result of a lack of information. However, a low response rate decreases the strength of our conclusions. FUNDING: none. TRIAL REGISTRATION: not relevant....

  11. Simultaneous osseous metaplasia nodules of the submucosa and mesosalpinx after first trimester abortion: a case report.

    Science.gov (United States)

    Feng, Zhou; Jiale, Qin; Xiaofei, Zhang; Qingyun, Guo; Lili, Huang

    2013-11-19

    Here, we report a case of simultaneous osseous metaplasia nodules of the submucosa and mesosalpinx after a first trimester abortion. A 36-year-old woman presented to the Women's Hospital, School of Medicine, Zhejiang University with vaginal bleeding and infertility resulting from osseous metaplasia nodules of the submucosa and mesosalpinx after a first trimester abortion. Diagnostic and operative hysteroscopy and laparoscope procedures were performed. The osseous metaplasia nodules disappeared after hysteroscopy and laparoscope interventions; 2 weeks postoperatively, the patient underwent a transvaginal ultrasound examination and the abnormal ultrasound appearance had resolved. Osseous metaplasia nodules in the submucosa and mesosalpinx can be a rare cause of vaginal bleeding and infertility. Autologous tissue, not persistent heterologous tissue, may be the true reason for metaplasia. Treatment is by ultrasound-guided curettage or by hysteroscopic and laparoscope removal.

  12. Comparison of gemeprost and vaginal misoprostol in first trimester mifepristone-induced abortion

    DEFF Research Database (Denmark)

    Svendsen, Pernille Fog; Rørbye, Christina; Vejborg, Thomas

    2005-01-01

    Abstract Background The aim of this study was to compare efficacy and side effects of gemeprost and vaginal misoprostol in mifepristone-induced abortions in women up to 63 days of gestation. Methods A retrospective study of 833 consecutive patients admitted for medical termination of first...... trimester pregnancy was conducted. Four-hundred ten patients received mifepristone 600 mg, followed 48 h later by gemeprost 1 mg (regimen I), and 423 patients received mifepristone 200 mg followed by vaginal misoprostol 800 µg (regimen II). Success rates were evaluated after 2 weeks and after 3 months......, gemeprost and vaginal misoprostol are equally effective for termination of first trimester abortion, but may be associated with varying intensity of side effects....

  13. First-Trimester Pregnancy Exposure to Venlafaxine or Duloxetine and Risk of Major Congenital Malformations

    DEFF Research Database (Denmark)

    Lassen, Dorte; Ennis, Zandra Nymand; Damkier, Per

    2016-01-01

    and noradrenaline reuptake inhibitors, SNRIs, significantly less data are available. Following the PRISMA guideline for systematic reviews, we performed a systematic search on the risk of major congenital malformations after first trimester in utero exposure to venlafaxine or duloxetine. We identified eight cohort......Major depressive disorder is common among women in child-bearing age, and medical treatment is subject to substantial discussions and controversies. For Selective Serotonin reuptake inhibitors, SSRIs, a vast amount of data are available. For the newer antidepressant group of serotonin...... studies reporting on the outcome upon in utero exposure to venlafaxine or duloxetine during the first trimester. The cumulated data for venlafaxine were 3186 exposed infants and 107 major malformations, resulting in a relative risk estimate and 95% confidence interval of 1.12 (0...

  14. ZIKA virus reveals broad tissue and cell tropism during the first trimester of pregnancy

    Science.gov (United States)

    El Costa, Hicham; Gouilly, Jordi; Mansuy, Jean-Michel; Chen, Qian; Levy, Claude; Cartron, Géraldine; Veas, Francisco; Al-Daccak, Reem; Izopet, Jacques; Jabrane-Ferrat, Nabila

    2016-01-01

    The outbreak of the Zika Virus (ZIKV) and its association with fetal abnormalities have raised worldwide concern. However, the cellular tropism and the mechanisms of ZIKV transmission to the fetus during early pregnancy are still largely unknown. Therefore, we ex vivo modeled the ZIKV transmission at the maternal-fetal interface using organ culture from first trimester pregnancy samples. Here, we provide evidence that ZIKV strain circulating in Brazil infects and damages tissue architecture of the maternal decidua basalis, the fetal placenta and umbilical cord. We also show that ZIKV replicates differentially in a wide range of maternal and fetal cells, including decidual fibroblasts and macrophages, trophoblasts, Hofbauer cells as well as umbilical cord mesenchymal stem cells. The striking cellular tropism of ZIKV and its cytopathic-induced tissue injury during the first trimester of pregnancy could provide an explanation for the irreversible congenital damages. PMID:27759009

  15. Comparison of gemeprost and vaginal misoprostol in first trimester mifepristone-induced abortion

    DEFF Research Database (Denmark)

    Svendsen, Pernille Fog; Rørbye, Christina; Vejborg, Thomas;

    2005-01-01

    Abstract Background The aim of this study was to compare efficacy and side effects of gemeprost and vaginal misoprostol in mifepristone-induced abortions in women up to 63 days of gestation. Methods A retrospective study of 833 consecutive patients admitted for medical termination of first...... trimester pregnancy was conducted. Four-hundred ten patients received mifepristone 600 mg, followed 48 h later by gemeprost 1 mg (regimen I), and 423 patients received mifepristone 200 mg followed by vaginal misoprostol 800 µg (regimen II). Success rates were evaluated after 2 weeks and after 3 months......, gemeprost and vaginal misoprostol are equally effective for termination of first trimester abortion, but may be associated with varying intensity of side effects....

  16. The ongoing debate over fetal anatomic surveys in the first trimester: a matter of timing?

    Directory of Open Access Journals (Sweden)

    Luchi C

    2015-03-01

    Full Text Available Carlo Luchi Department of Experimental and Clinical Medicine, University of Pisa, Pisa, Italy Abstract: Both new technologies and fetal medicine development have led the perinatologist to a new way of “seeing” the fetus in order to improve maternal and neonatal outcome. Thanks to the inversion of pyramid care, the first trimester anatomical fetal survey has become the moment to identify patients at specific risk of pregnancy complications. This review is based on the latest Literature that prove how ultrasound fetal anatomy can be related not only with chromosomal abnormalities, but also with structural defects, like cardiovascular ones, with developing brain injuries or with developing syndromic diseases; furthermore pregnancy complications like preeclampsia and preterm birth have been considered too. Keywords: chromosomal abnormalities, cardiovascular diseases, first trimester, ultrasound, fetal anomalies

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

    Science.gov (United States)

    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.

  18. A Non-invasive Prenatal Diagnosis Method: Free Fetal DNA in Maternal Plasma

    Directory of Open Access Journals (Sweden)

    Ebru Dundar Yenilmez

    2013-06-01

    Full Text Available Prenatal diagnosis for genetic diseases nowadays is still carried out by invasive procedures such as chorionic villus sampling, amniocentesis or cordocentesis. These techniques, however, accompanied with risk of fetal losses. Non-invasive prenatal diagnosis tests based on the analysis of fetal DNA in maternal plasma have potential to be a safer alternative to invasive methods. Non-invasive prenatal diagnosis has been a long-standing research theme in prenatal medicine. The discovery of cell-free fetal nucleic acids in maternal plasma in 1997 has opened new possibilities for noninvasive prenatal diagnosis. The measurement and detection of fetal DNA in maternal plasma and serum has led to clinical applications for the identification of fetal aneuploidies, pre-eclamptic pregnancies, noninvasive diagnosis of fetal Rhesus D genotype and some single gene disorders. The detection of fetal DNA sequences is a reality and could reduce the risk of invasive techniques for certain fetal disorders in the near future. [Archives Medical Review Journal 2013; 22(3.000: 317-334

  19. First-Trimester Maternal Serum Levels of sFLT1, PGF and ADMA Predict Preeclampsia.

    Science.gov (United States)

    Bian, Zheng; Shixia, Chenzi; Duan, Tao

    2015-01-01

    Placental growth factor (PGF), soluble fms-like tyrosine kinase 1 (sFLT1) and asymmetric dimethylarginine (ADMA) are involved in the pathogenesis of preeclampsia. Abnormal maternal sFLT1, PGF and ADMA levels are detectable weeks before the onset of preeclampsia. To investigate sFLT1, PGF and ADMA in the first trimester of pregnancy as predictors of preeclampsia. In this prospective nested case-control study, 740 pregnant women enrolled at 12-16 weeks of gestation and followed up until 6 weeks after delivery at the Shanghai First Maternity and Infant Health Hospital of Tongji University between January 2010 and December 2012. Forty-four women developed preeclampsia. Urinary proteins were measured using 24-hour collection or dipsticks. sFLT1, PGF and ADMA were measured by ELISA in the first trimester. Pulsatility index (PI) was measured by Doppler ultrasound in the second trimester. First-trimester serum sFLT1 and ADMA levels of women who developed preeclampsia were significantly higher compared with women with normal pregnancies (sFLT1: 0.321 ± 0.023 vs. 0.308 ± 0.019 ng/ml, P = 0.001; ADMA: 0.86 ± 0.16 vs. 0.68 ± 0.20 μM, P preeclampsia were significantly lower than in women with normal pregnancies (115.72 ± 32.55 vs. 217.30 ± 74.48 pg/ml, P preeclampsia (area under the curve [AUC]: 0.902), as well as second-trimester uterine artery pulse index (AUC: 0.836). In the first trimester, maternal serum sFLT1, PGF and ADMA levels, as well as second-trimester uterine artery PI, could predict preeclampsia.

  20. Ultrasound Assessment of Umbilical Cord Morphology in the First Trimester: A Feasibility Study

    DEFF Research Database (Denmark)

    Narayan, Rajit; Saaid, Rahmah; Pedersen, Lars Henning

    2015-01-01

    Objective: The aim of this study was to determine whether morphology and measurement of the umbilical cord could be accurately assessed at the time of the 11- to 13+6-week scan. Methods: We conducted a prospective study of 100 consecutive women with singleton pregnancies at 11-13+6 weeks' gestation...... be consistently studied in the first trimester. A subjective method of evaluation of the morphology may be a more reproducible technique until measurement strategies are refined and operator experience developed....

  1. Detection of functional changes of the fetal heart in the first trimester of gestation

    Directory of Open Access Journals (Sweden)

    Carlos Geraldo Viana Murta

    1999-06-01

    Full Text Available The authors consider the possibility of using color Doppler of the ductus venosus and the measurement of nuchal translucency as a screening test for alterations in fetal cardiac functions in the first trimester of gestation. Review of the literature suggests that the combination of the ultrasonographic measurement of nuchal translucency and Doppler at 10 and 14 weeks of gestation can be effective in detecting certain cardiac abnormalities. This conclusion, however, is preliminary and needs to be further investigated.

  2. Measurement of Nuchal Translucency Thickness for Detection of Chromosomal Abnormalities using First Trimester Ultrasound Fetal Images

    CERN Document Server

    Nirmala, S

    2010-01-01

    The Nuchal Translucency thickness measurement is made to identify the Down Syndrome in screening first trimester fetus and presented in this paper. The mean shift analysis and canny operators are utilized for segmenting the nuchal translucency region and the exact thickness has been estimated using Blob analysis. It is observed from the results that the fetus in the 14th week of Gestation is expected to have a nuchal translucency thickness of 1.87 plus or minus 0.25mm.

  3. The association between first trimester micronutrient intake, MTHFR genotypes, and global DNA methylation in pregnant women

    OpenAIRE

    La Merrill, Michele; Torres-Sánchez, Luisa; Ruiz-Ramos, Rubén; López-Carrillo, Lizbeth; Cebrián, Mariano E.; Chen, Jia

    2011-01-01

    Objective Our aim was to evaluate possible associations between consumption of micronutrients involved in one-carbon metabolism, MTHFR genotypes, and global DNA methylation in pregnant women. Methods A semi-quantitative dietary questionnaire was administered to 195 women during their first trimester in Morelos, Mexico. Two functional polymorphisms of the key folate-metabolizing gene, i.e. MTHFR 677 C>T and 1298 A>C, as well as global DNA methylation were assessed in peripheral blood drawn dur...

  4. Committee Opinion Summary No. 638: First-Trimester Risk Assessment for Early-Onset Preeclampsia.

    Science.gov (United States)

    2015-09-01

    Hypertensive disorders with adverse sequelae (including preterm birth, maternal morbidity and mortality, and long-term risk of maternal cardiovascular disease) complicate 5-10% of pregnancies. Early identification of pregnant women at risk of developing early-onset preeclampsia would theoretically allow referral for more intensive surveillance or application of preventive therapies to reduce the risk of severe disease. In practice, however, the effectiveness of such triage would be hindered by the low positive predictive value for early-onset preeclampsia reported in the literature. In spite of the modest predictive value of first-trimester preeclampsia risk assessment and the lack of data demonstrating improved clinical outcomes, commercial tests are being marketed for the prediction of preeclampsia in the first trimester. Taking a detailed medical history to evaluate for risk factors is currently the best and only recommended screening approach for preeclampsia; it should remain the method of screening for preeclampsia until studies show that aspirin or other interventions reduce the incidence of preeclampsia for women at high risk based on first-trimester predictive tests.

  5. First Trimester Maternal Serum PP13 in the Risk Assessment for Preeclampsia

    Science.gov (United States)

    ROMERO, Roberto; KUSANOVIC, Juan Pedro; THAN, Nandor Gabor; EREZ, Offer; GOTSCH, Francesca; ESPINOZA, Jimmy; EDWIN, Samuel; CHEFETZ, Ilana; GOMEZ, Ricardo; NIEN, Jyh Kae; SAMMAR, Marei; PINELES, Beth; HASSAN, Sonia S.; MEIRI, Hamutal; TAL, Yossi; KUHNREICH, Ido; PAPP, Zoltan; CUCKLE, Howard S.

    2008-01-01

    Objective To determine whether first trimester maternal serum Placental Protein 13 (PP13) concentrations can be used in the risk assessment for preeclampsia. Study Design This case-control study included 50 patients with preeclampsia and 250 patients with normal pregnancies. Samples were collected between 8-13 weeks of gestation. Serum PP13 concentrations were measured by ELISA and expressed as medians and multiples of the median (MoM) for gestational age. Sensitivity and specificity were derived from receiver operating characteristic curve analysis. Results 1) Serum PP13 concentration in the first trimester was significantly lower in patients who developed preterm and early-onset preeclampsia than in those with normal pregnancies; and 2) At 80% specificity, a cutoff of 0.39 MoM had a sensitivity of 100% for early-onset preeclampsia and 85% for preterm preeclampsia. Conclusion Maternal serum first trimester PP13 appears to be a reasonable marker for risk assessment, but a weak marker for severe preeclampsia at term, and ineffective for identifying mild preeclampsia at term. PMID:18539259

  6. Laparoscopic surgery for treating adnexal masses during the first trimester of pregnancy

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    Lucas Minig

    2016-01-01

    Full Text Available Objective: To evaluate the feasibility and safety of laparoscopic surgery for treating adnexal masses during the first trimester of pregnancy. Study Design: An observational study of a prospective collection of data of all pregnant women who underwent laparoscopic surgery for adnexal masses during the first trimester of pregnancy between January 1999 and November 2012 at the Obstetrics and Gynecology Department of the Italian Hospital of Buenos Aires, Buenos Aires, Argentina was performed. Results: A total of 13 women were included. The median (range gestational age at the moment of surgical procedure was 7 weeks (range: 5-12 weeks. The main indication of surgery was cyst torsion in four cases (30.7% and rupture of ovarian cysts in four cases (30.7%. Other indications included persistent ovarian cyst in three patients (23% and heterotopic pregnancy in two cases (15.3%. Neither surgical complications nor spontaneous abortions occurred in any of the cases and the post-operative period was uneventful in all the cases. No cases of intrauterine growth retardation, preterm delivery, congenital defects, or neonatal complications were registered. Conclusion: The treatment of complicated adnexal masses by laparoscopic surgery during the first trimester of pregnancy appears to be a safe procedure both for the mother and for the foetus. Additional research on a larger number of cases is still needed to support these conclusions.

  7. Elevated First-Trimester Total Bile Acid is Associated with the Risk of Subsequent Gestational Diabetes

    Science.gov (United States)

    Hou, Wolin; Meng, Xiyan; Zhao, Weijing; Pan, Jiemin; Tang, Junling; Huang, Yajuan; Tao, Minfang; Liu, Fang; Jia, Weiping

    2016-01-01

    The aim of the current study is to assess whether total bile acid (TBA) level in first trimester pregnancy is associated with gestational diabetes mellitus (GDM). Biochemical parameters including serum TBA of 742 pregnant women were collected within 12 weeks of gestation and compared. At 24–28th weeks of gestation, 75 g oral glucose tolerance test (OGTT) was performed. The perinatal data of 330 women were collected. The results demonstrated women with GDM (n = 268) had higher first-trimester serum levels of TBA compared with healthy subjects (n = 474) (2.3 ± 1.4 μmol/L vs. 1.9 ± 1.0 μmol/L, P < 0.001). TBA was independently associated with GDM [adjusted odds ratio (AOR), 1.38; 95% confidence interval (CI), 1.18–1.61, P < 0.001]. Compared to the first category of TBA, women in the highest category had a marked increase in risk for GDM (AOR, 7.72; 95% CI, 3.22–18.50, P < 0.001). In conclusion, higher first-trimester TBA levels, even within normal range, may help indicate increased risk of GDM. PMID:27667090

  8. Effectiveness of the misoprostol for the abortion in the first trimester of the pregnancy in adolescents.

    Directory of Open Access Journals (Sweden)

    Práxedes Rojas Quintana

    2008-04-01

    Full Text Available Background: Synthetic prostaglandin PGE1 known ad misoprostol is an analog of the E prostaglandin. In the gynecological field it is used for the cervix uterine maturation and in this way it provokes modifications which favor the fast expel of the product of conception in the first trimester of pregnancy. Objectives: to show the effectiveness of misoprostol for medicamentous abortion in the first trimester of adolescents´ pregnancy. Methods: a descriptive, series cases, prospective study which included 763 adolescents in Cienfuegos province from August 2005 to June 2007. Adolescents with their parents' consent asked the doctors for the interruption of their pregnancy status using misoprostol as medicamentous abortion. For the performance of this method, a methodological instrumentation guide created by the Public Health Minister for the usage of misoprostol in vaginal pathway for the abortion induction was used. Results: The expelling of the fetus was successful in 93, 4 % of the adolescents, 66% of them were in their 8 weeks of gestation, 89 % were nulliparae, and 2, 6 were multiparae. The most frequent symptoms produced for this method were bleeding (42%, and pain (38, 4%. Conclusions: the usage of misoprostol was effective for the interruption of pregnancy in the first trimester in adolescents.

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

    Science.gov (United States)

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

    2015-01-01

    Congenital Talipes Equinovarus (CTEV) or clubfoot is one of the most common congenital abnormalities(1,2). Early diagnosis by means of ultrasonography allows an opportune intervention and improves the deformity's correction prognosis. To describe patients diagnosed with CTEV by means of prenatal sonographies between 2003 and 2012 in Bogotá (Colombia) at both the Institute de Ortopedia Infantil Roosevelt (IOIR) and one of the authors' private office. A descriptive, retrospective study on the focus population was made. The equality of the data of the quantitative variables in distance measure was analysed by the Kolmogorov-Smirnov test. For the variables "prenatal diagnoses" and "days from the start of the treatment" the Mann-Whitney U test was used. Finally, an analysis was made by means of the SPSS Statistics software package, version 18.0. 178 patients met the selection criteria. 34.3% of the patients had a prenatal diagnosis by ultrasonography (n=61). Regarding the number of prenatal ultrasounds performed, there were statistically significant differences between the patients with a CTEV prenatal diagnoses and those whose diagnoses came after birth, being higher in the first group (p<0.001). The number of days before the treatment started once the pre or postnatal diagnosis was done was also a subject of study. Significant differences were found in the treatment start between patients with a prenatal diagnosis (mean of 9.9 days) and those diagnosed after birth (mean of 30 days) (p<0.001). prenatal diagnosis by foetal ultrasonography contributes to an early detection of musculoskeletal abnormalities such as CTEV and promotes an early intervention of the patient.

  10. The maternal age-related first trimester risks for trisomy 21, 18 and 13 based on Danish first trimester data from 2005 to 2014.

    Science.gov (United States)

    Hartwig, Tanja Schlaikjaer; Sørensen, Steen; Jørgensen, Finn Stener

    2016-07-01

    Most currently used age-related risks of T21, T18 and T13 are based on estimates of the live-birth prevalence, and describe an exponential increase of risk by increased maternal age. We investigated the first trimester prevalence of T21, T18 and T13 in a large population of Danish women. From the Danish Cytogenetic Central Registry we got the information of all pre- and postnatally diagnosed fetuses with T21, T18 or T13 between 2005 and 2014 in Denmark. Information on the total number of births and maternal age at birth were gathered from StatBank Denmark. The total number of included women was 605 853. The total number of T21 cases was 1564, T18 cases was 401 and T13 cases was 157. The overall first trimester prevalence per 10 000 pregnancies was 25.8 for T21, 6.6 for T18 and 2.6 for T13. Boltzmann sigmoidal model (Y = Bottom + (top-bottom / (1 - exp (V50 - X) / slope)) was found to best describe the age-related risk of T21, T18 and T13. We found that the age-related risks are better described by sigmoidal functions, contrary to the widely assumed exponential functions. Our results indicate a lower age-related a priori risk of T21, T18 and T13 compared to widely used risk models. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  11. Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome.

    Science.gov (United States)

    Huang, Lv-Yin; Yang, Yu; He, Ping; Li, Dong-Zhi

    2016-12-14

    We present prenatal diagnosis and chromosomal microarray analysis (CMA) of 9q34.3 microdeletion in a foetus with an increased nuchal translucency (NT). Conventional G-banding analysis showed a de novo translocation: 45, XX, dic (9;13)(q34;p13). CMA revealed a 3.6 Mb 9q34.3 microdeletion encompassing an OMIM gene of EHMT1 consistent with the diagnosis of Kleefstra syndrome and 9q subtelomeric deletion syndrome. We suggest an application of CMA at prenatal diagnosis in pregnancies with increased NT and an apparent balanced translocation on conventional karyotype.

  12. Prenatal 2-dimensional and 3-dimensional ultrasonography diagnosis and autoptic findings of isolated ectopia cordis.

    Science.gov (United States)

    Bianca, S; Bartoloni, G; Auditore, S; Reale, A; Tetto, C; Ingegnosi, C; Pirruccello, B; Ettore, G

    2006-01-01

    Ectopia cordis is a very rare congenital malformation, commonly associated with intracardiac anomalies. It is due to a defect in fusion of the anterior chest wall resulting in an extrathoracic location of the heart. We report prenatal 2-dimensional (2D) and 3D ultrasonography diagnosis and postnatal autoptic findings of an isolated ectopia cordis with tricuspid atresia. Ectopia cordis prenatal diagnosis is easily made with ultrasound by visualizing the heart outside the thoracic cavity. 3D ultrasonography may add more detailed visualization of the heart anomaly even if the 2D ultrasonography alone permits the prenatal diagnosis. Obstetrical management should include a careful search for associated anomalies, especially cardiac, and the assessment of fetal karyotype. As this is considered a sporadic anomaly, the recurrence risk is low and no genetic origin is known.

  13. Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells

    Institute of Scientific and Technical Information of China (English)

    WU Ting; DING Xin-sheng; LI Wen-lei; YAO Juan; DENG Xiao-xuan

    2005-01-01

    Background Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of anterior horn cells of the spinal cord.The survival motor neuron gene is SMA-determining gene deleted in approximately 95% of SMA patients.This study was undertaken to predict prenatal SMA efficiently and rapidly in families with previously affected child.Methods Prenatal diagnosis was made in 8 fetuses with a family history of SMA.Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used for the detection of the survival motor neuron gene.Results The survival motor neuron gene was not found in 6 fetuses, ruling out the diagnosis of SMA.Two fetuses were detected positive and the pregnancies were terminated.Conclusion Our method is effective and convenient in prenatal diagnosis of SMA.

  14. Prenatal Diagnosis of Congenital Cystic Adenomatoid Malformations: Evolution and Outcome

    Directory of Open Access Journals (Sweden)

    Wei-Shiu Chen

    2009-09-01

    Conclusion: The outcomes of the prenatally detected CCAMs were good in our cases. If the CCAM is not complicated by hydrops fetalis, maintaining the pregnancy with continuing management seems to be a reasonable recommendation. Despite antenatal resolution of CCAM on ultrasound, postnatal examination with chest radiography and computed tomography scan is necessary.

  15. Prenatal diagnosis of congenital malformations in 500 pregnancies

    NARCIS (Netherlands)

    Leschot, N.J.; Treffers, P.E.; Verjaal, M.; Weduwen, J.J. der; Bennebroek Gravenhorst, J.; Coelingh Bennink, H.J.T.

    1979-01-01

    The organization, techniques used and diagnostic findings of 500 prenatal diagnoses are reported in detail. In 15 cases the pregnancy was terminated because of abnormal laboratory findings. Follow-up of the remaining pregnancies revealed a perinatal mortality of 1.7%, and the risk of an abortion ind

  16. Prenatal molecular diagnosis of beta-thalassemia: report on the first two cases in Romania.

    Science.gov (United States)

    Talmaci, R; Coriu, D; Dan, L; Cherry, L; Gavrila, L; Barbarii, L; Dogaru, M; Vladareanu, F; Vladareanu, R; Peltecu, G; Colita, D

    2008-01-01

    Thalassaemia major is a classical example of a disease that can be prevented by prenatal diagnosis. In Romania there are currently 300 patients with thalassaemia major under the management of specialized institutions. Prenatal diagnoses of thalassemia have offered a new dimension to the prevention of this disease, but in order to implement prenatal diagnosis, knowledge of mutations and of their incidence is essential. Molecular testing using Denaturing Gradient Gel Electrophoresis (DGGE) scanning and direct mutation detection with Amplificaton Refractory Mutation System-PCR (ARMS-PCR) and Restriction endonuclease Analysis of PCR fragments (PCR-RFLP) was performed by using amplified DNA from amniotic cells samples, while mutations in the parents were determined in advance. Using our experience in molecular diagnosis, we were able to perform the first prenatal diagnosis for two young couples at risk for thalassaemia major. Foetal samplings were collected by amniocentesis and chorionic villus sampling in the second trimester of the pregnancies. Maternal contamination of the foetal DNA was ruled out by STR genotyping. The prenatal diagnosis revealed affected foetuses with homozygous status of beta-thalassemia major. The IVSI-110 (G-A)/IVS II-745 (C-G) genotype in the first case foetus and ed 8 (-AA)/cd 8 (-AA) in the second case foetus were reported. The results of this study point to a successful future prenatal diagnosis of beta-thalassnemia in Romania, using a rapid and accurate molecular method. Together with the implementation of proper preventive health measures and the education of parents regarding their carrier status, we are hoping that this method will be used as the common application approach to decrease the incidence of thalassacmia major.

  17. Prenatal diagnosis of 45,X/46,XY mosaicism--a review and update.

    Science.gov (United States)

    Hsu, L Y

    1989-01-01

    A total of 54 cases with prenatal diagnosis of 45,X/46,XY mosaicism was reviewed. Of 47 cases with information on phenotypic outcome, 42 cases (89.4 per cent) were reported to be associated with a grossly normal male phenotype. Three cases (6.4 per cent) were diagnosed as having mixed gonadal dysgenesis with internal asymmetrical gonads. Two other cases were questionably abnormal. In 40 cases with successful cytogenetic confirmatory studies, the overall rate of cytogenetic confirmation of 45,X/46,XY from tissues derived from fetus/liveborn/placenta was 70.0 per cent. This review shows a major difference in the phenotypic outcome between postnatal diagnosis and prenatal diagnosis. Due to the ascertainment bias, almost all known patients with postnatal diagnosis of 45,X/46,XY mosaicism are phenotypically abnormal. Therefore, caution must be used in translating information derived from postnatal diagnosis to prenatal diagnosis. This review calls for collection of more data on 45,X/46,XY mosaicism diagnosed prenatally, more long-term follow-up of liveborn infants, and pathological studies of all abortuses. Emphasis is placed also on the importance of genetic counselling, ultrasound examination, and cytogenetic confirmation.

  18. Placenta Increta after First-Trimester Dilatation and Curettage Manifesting as an Unusual Uterine Mass: Magnetic Resonance Findings

    Energy Technology Data Exchange (ETDEWEB)

    Ju, W.; Kim, S.C. [Dept. of Obstetrics and Gynecology, and Medical Research Inst., School of Medicine, Ewha Womens Univ., Seoul (Korea)

    2007-10-15

    Placenta increta during the first trimester of pregnancy is extremely rare. Only a few cases of placenta accreta during the latter half of pregnancy manifesting as a uterine mass have been published. This report describes a case of placenta increta that caused prolonged bleeding after a first-trimester abortion, and was identified by magnetic resonance imaging (MRI) as a heterogeneous mass in the myometrium. This is the first report of a placenta increta detected as a uterine mass after first-trimester dilatation and curettage, and its MRI findings.

  19. Prenatal diagnosis of choledochal cyst using magnetic resonance imaging: A case report

    Institute of Scientific and Technical Information of China (English)

    Alex Mun-Ching Wong; Yun-Chung Cheung; Yu-Hung Liu; Koon-Kwan Ng; Siu-Cheung Chan; Shu-Hang Ng

    2005-01-01

    Choledochal cysts are congenital anomalies of the biliary ducts, characterized by cystic dilatation of the ducts.Prenatal diagnosis of this anomaly using ultrasonography (US) has been well documented. Magnetic resonance imaging (MRI) has recently become an important complement to US in prenatal diagnosis of fetal anomalies. We herein report a patient in whom at 24 wk' gestation US suggested a right upper quadrant abdominal cyst and in whom at 26 wk' gestation MRI more clearly delineated the cyst and its surrounding structures and suggested a choledochal cyst, which was confirmed at postnatal surgery and histopathology.

  20. Fetal cells in maternal blood: state of the art for non-invasive prenatal diagnosis.

    Science.gov (United States)

    Ho, S S; O'Donoghue, K; Choolani, M

    2003-09-01

    In Singapore, 1 in 5 pregnancies occur in mothers > 35 years old and genetic diseases, such as thalassaemia, are common. Current methods for the diagnosis of aneuploidy and monogenic disorders require invasive testing by amniocentesis, chorion villus biopsy or fetal blood sampling. These tests carry a procedure-related risk of miscarriage that is unacceptable to many couples. Development of non-invasive methods for obtaining intact fetal cells would allow accurate prenatal diagnosis for aneuploidy and single gene disorders, without the attendant risks associated with invasive testing, and would increase the uptake of prenatal diagnosis by women at risk. Isolation of fetal erythroblasts from maternal blood should allow accurate non-invasive prenatal diagnosis of both aneuploidies and monogenic disorders. Expression of gamma-globin in maternal erythroblasts and the inability to locate fetal erythroblasts reliably in all pregnancies have prevented its clinical application. In the absence of a highly specific fetal cell marker, enrichment, identification and diagnosis--the 3 components of non-invasive prenatal diagnosis--have clearly defined objectives. Since fetal cells are rare in maternal blood, the sole purpose of enrichment is yield--to recover as many fetal cells as possible--even if purity is compromised at this stage. In contrast, the primary goal of identification is specificity; absolute certainty of fetal origin is required at this stage if the ultimate objective of diagnosis, accuracy, is to be achieved. This review summarises the current state of the art of non-invasive prenatal diagnosis using fetal erythroblasts enriched from maternal blood.

  1. DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency

    DEFF Research Database (Denmark)

    Olsen, Rikke K J; Andresen, Brage S; Christensen, Ernst;

    2005-01-01

    , prenatal diagnosis of MADD has relied mostly on second-trimester biochemical analyses of amniotic fluid or cultured amniocytes. We report here on an alternative DNA-based approach for prenatal diagnosis in pregnancies at risk of MADD. METHODS: We used our knowledge of the mutational status in three...

  2. Genetic counseling and prenatal diagnosis: a multicultural perspective.

    Science.gov (United States)

    Puñales-Morejon, D

    1997-01-01

    More and more women are using prenatal tests to obtain specific information on the health of the developing fetus. The objective of genetic counseling is not to decrease the occurrence of genetic disease, it is to help individuals and families adjust to their genetic risks and make their own decisions in line with their reproductive goals and world views. Choices made by parent(s) will reflect their own intrapsychic processes as well as their own cultural and social understanding of genetic risk and disease. As prenatal testing continues to diagnose an ever growing number of genetic disorders, genetic counseling faces greater and greater challenges. Now more than ever before, genetic counseling must incorporate both psychological counseling and multiculturalism in order to serve diverse individuals and families at risk for genetic disease.

  3. Update on procedure-related risks for prenatal diagnosis techniques

    DEFF Research Database (Denmark)

    Tabor, Ann; Alfirevic, Zarko

    2010-01-01

    Introduction: As a consequence of the introduction of effective screening methods, the number of invasive prenatal diagnostic procedures is steadily declining. The aim of this review is to summarize the risks related to these procedures. Material and Methods: Review of the literature. Results: Data...... from randomised controlled trials as well as from systematic reviews and a large national registry study are consistent with a procedure-related miscarriage rate of 0.5-1.0% for amniocentesis as well as for chorionic villus sampling (CVS). In single-center studies performance may be remarkably good due...... not be performed before 15 + 0 weeks' gestation. CVS on the other hand should not be performed before 10 weeks' gestation due to a possible increase in risk of limb reduction defects. Discussion: Experienced operators have a higher success rate and a lower complication rate. The decreasing number of prenatal...

  4. Establishment of a prenatal diagnosis schedule as part of a prophylaxis program of factor XIII deficiency in the southeast of Iran.

    Science.gov (United States)

    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.

  5. Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family.

    Science.gov (United States)

    Liu, N; Zhuo, Z-H; Wang, H-L; Kong, X-D; Shi, H-R; Wu, Q-H; Jiang, M

    2015-01-01

    We explored the feasibility of applying gene diagnosis in prenatal diagnosis by analysis of hypoxanthine-guanine phosphoribosyltransferase-1 (HPRT1) gene mutation in a Chinese Lesch-Nyhan family. A homozygous mutation of p.R170X (c.508C>T) in HPRT1 gene was detected in the proband, and a heterozygous mutation of p.R170X was detected in his mother. This mutation failed to be found in the 50 unrelated healthy individuals. Prenatal diagnosis indicated that the foetus was male and also carried p.R170X (c.508C>T) mutation, same as the proband. Parents of the foetus decided termination of pregnancy, and the result of gene analysis for the aborted tissue was consistent with that of prenatal diagnosis. We can see that Lesch-Nyhan syndrome (LNS) is caused by non-sense mutation p.R170X(c.508C>T)in HPRT1 gene in this family. Prenatal gene diagnosis is a valid strategy to prevent LNS because it can avoid the birth of LNS foetuses.

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

    Directory of Open Access Journals (Sweden)

    Francesca Romana Grati

    2014-07-01

    Full Text Available 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.

  7. First trimester serum levels of the soluble transcobalamin receptor, holo-transcobalamin, and total transcobalamin in relation to preeclampsia risk

    DEFF Research Database (Denmark)

    Abuyaman, Omar; Torring, Niels; Obeid, Rima;

    2016-01-01

    transcobalamin (TC) with the risk of subsequent preeclampsia using serum samples from asymptomatic first trimester pregnant women. Moreover, we aimed to establish reference intervals of the aforementioned biomarkers for first trimester pregnant women who remained healthy throughout pregnancy. STUDY DESIGN...... preeclampsia while the controls remained normotensive throughout pregnancy. We measured the serum concentration of sCD320, holoTC, and total TC by using in-house ELISA methods. RESULTS: First trimester median concentrations of sCD320, holoTC and total TC were not significantly different between cases...... and controls. The odd ratio for developing preeclampsia based on exposure to low or high levels of sCD320, holoTC or total TC at first trimester was not significant. The reference intervals (2.5-97.5% percentiles (median)) derived from the controls were 50-170 (90) pmol\\L for sCD320, 20-140 (70) pmol...

  8. First trimester combined test for Down syndrome screening in unselected pregnancies — A report of a 13-year experience

    Directory of Open Access Journals (Sweden)

    Fa-Kung Lee

    2013-12-01

    Conclusion: The first trimester combined test is an effective screening tool for Down syndrome detection with an acceptable low false positive rate. The best timing of screening will be between 11 and 12 weeks' gestation.

  9. Predictive value for preterm birth of abnormal vaginal flora, bacterial vaginosis and aerobic vaginitis during the first trimester of pregnancy.

    Science.gov (United States)

    Donders, G G; Van Calsteren, K; Bellen, G; Reybrouck, R; Van den Bosch, T; Riphagen, I; Van Lierde, S

    2009-09-01

    Abnormal vaginal flora (AVF) before 14 gestational weeks is a risk factor for preterm birth (PTB). The presence of aerobic microorganisms and an inflammatory response in the vagina may also be important risk factors. The primary aim of the study was to investigate the differential influences of AVF, full and partial bacterial vaginosis, and aerobic vaginitis in the first trimester on PTB rate. The secondary aim was to elucidate why treatment with metronidazole has not been found to be beneficial in previous studies. Unselected women with low-risk pregnancies attending the prenatal unit of the Heilig Hart General Hospital in Tienen, Belgium, were included in the study. At the first prenatal visit, 1026 women were invited to undergo sampling of the vaginal fluid for wet mount microscopy and culture, of whom 759 were fully evaluable. Abnormal vaginal flora (AVF; disappearance of lactobacilli), bacterial vaginosis (BV), aerobic vaginitis (AV), increased inflammation (more than ten leucocytes per epithelial cell) and vaginal colonisation with Candida (CV) were scored according to standardised definitions. Partial BV was defined as patchy streaks of BV flora or sporadic clue cells mixed with other flora, and full BV as a granular anaerobic-type flora or more than 20% clue cells. Vaginal fluid was cultured for aerobic bacteria, Mycoplasma hominis and Ureaplasma urealyticum. Outcome was recorded as miscarriage vaginal flora in the first trimester had a 75% lower risk of delivery before 35 weeks compared with women with AVF [odds ratio (OR) 0.26; 95% confidence interval (CI) 0.12-0.56]. The absence of lactobacilli (AVF) was associated with increased risks of PTB (OR 2.4; 95% CI 1.2-4.8), EPTB (OR 6.2; 95% CI 2.7-14) and miscarriage (OR 4.9; 95% CI 1.4-17). BV was associated with increased risks of PTB (OR 2.4; 95% CI 1.1-4.7), EPTB (OR 5.3; 95% CI 2.1-12.9) and miscarriage (OR 6.6; 95% CI 2.1-20.9) and coccoid AV was associated with increased risks of EPTB (OR 3.2; 95% CI 1

  10. Association between previously unknown connective tissue disease and subclinical hypothyroidism diagnosed during first trimester of pregnancy.

    Science.gov (United States)

    Beneventi, Fausta; Locatelli, Elena; Alpini, Claudia; Lovati, Elisabetta; Ramoni, Véronique; Simonetta, Margherita; Cavagnoli, Chiara; Spinillo, Arsenio

    2015-11-01

    To investigate the presence of autoimmune rheumatic disorders among women with autoimmune thyroid disorders diagnosed during the first trimester of pregnancy and subsequent pregnancy outcomes. Case-control study. Tertiary obstetric and gynecologic center. Pregnant women in the first trimester of pregnancy. Clinical, laboratory, ultrasonographic evaluations. Thyroid-stimulating hormone (TSH) level; antibodies against thyroperoxidase, thyroid globulin and TSH receptor detection; screening for rheumatic symptoms and antinuclear antibodies (ANA); uterine artery pulsatility index evaluation; pregnancy complication onset. Out of 3,450 women enrolled, 106 (3%) were diagnosed with autoimmune thyroid disorders. ANA were present in 18 (16.9%) of 106 cases and 26 (12.6%) of 206 controls. Of the cases, 28 (26.4%) of 106 reported rheumatic symptoms, 5 of these were diagnosed with Sjögren syndrome or with undefined connective tissue disease. Autoimmune thyroid diseases are statistically significantly associated with a higher risk of preeclampsia, fetal growth restriction, and overall pregnancy complications compared with controls, with a higher uterine artery pulsatility index, suggesting a defective placentation in thyroid disorders. The effect of ANA-positivity on moderate/severe adverse pregnancy outcomes was statistically significant among the patients with thyroid disorders (9 of 18 as compared to 8 of 88, odds ratio 9.65; 95% confidence interval, 2.613-7.81). Connective tissue diseases are frequently associated with autoimmune thyroid disorders diagnosed during the first trimester of pregnancy. Thyroid autoimmunity and ANA positivity independently increased the risk of adverse pregnancy outcomes. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  11. Pregnancy Outcome After First Trimester Use of Methyldopa: A Prospective Cohort Study.

    Science.gov (United States)

    Hoeltzenbein, Maria; Beck, Evelin; Fietz, Anne-Katrin; Wernicke, Juliane; Zinke, Sandra; Kayser, Angela; Padberg, Stephanie; Weber-Schoendorfer, Corinna; Meister, Reinhard; Schaefer, Christof

    2017-07-01

    Published experience on first trimester exposure to methyldopa is still limited, although it is recommended as first-line treatment for hypertensive disorders in pregnancy in most countries. The primary aim of this prospective observational cohort study was to analyze the rate of major birth defects and spontaneous abortions in women with methyldopa therapy for chronic hypertension. Outcomes of 261 pregnancies with first trimester exposure to methyldopa and 526 comparison pregnancies without chronic hypertension reported to the German Embryotox pharmacovigilance institute were evaluated. The rate of major birth defects in the exposed cohort was not significantly increased compared with the comparison cohort (3.7% versus 2.5%; adjusted odds ratio, 1.24; 95% confidence interval, 0.4-4.0). There was a tendency toward a higher rate of spontaneous abortions in exposed women. The risk of preterm birth was significantly higher, and adjusted birth weight scores were significantly lower in the methyldopa group. Head circumferences were significantly reduced in exposed boys only. There was neither evidence for an increased risk for birth defects or increase in early pregnancy loss nor evidence for growth restriction or a reduced head circumference in a sensitivity analysis comparing monotherapies with methyldopa to metoprolol. However, the significantly increased risk of preterm birth in methyldopa-treated pregnancies was confirmed. In conclusion, our study does not indicate a teratogenic risk of methyldopa. Further studies are needed to confirm its safety in the first trimester and clarify the influence of hypertension and methyldopa on preterm birth and intrauterine growth. URL: https://drks-neu.uniklinik-freiburg.de/drks_web/. Unique identifier: DRKS00010502. © 2017 American Heart Association, Inc.

  12. Immunomodulatory molecules are released from the first trimester and term placenta via exosomes.

    Science.gov (United States)

    Kshirsagar, S K; Alam, S M; Jasti, S; Hodes, H; Nauser, T; Gilliam, M; Billstrand, C; Hunt, J S; Petroff, M G

    2012-12-01

    The semiallogenic fetus is tolerated by the maternal immune system through control of innate and adaptive immune responses. Trophoblast cells secrete nanometer scale membranous particles called exosomes, which have been implicated in modulation of the local and systemic maternal immune system. Here we investigate the possibility that exosomes secreted from the first trimester and term placenta carry HLA-G and B7 family immunomodulators. Confocal microscopy of placental sections revealed intracellular co-localization of B7-H1 with CD63, suggesting that B7-H1 associates with subcellular vesicles that give rise to exosomes. First trimester and term placental explants were then cultured for 24 h. B7H-1 (CD274), B7-H3 (CD276) and HLA-G5 were abundant in pelleted supernatants of these cultures that contained microparticles and exosomes; the latter, however, was observed only in first trimester pellets and was nearly undetectable in term explant-derived pellets. Further purification of exosomes by sucrose density fractionation confirmed the association of these proteins specifically with exosomes. Finally, culture of purified trophoblast cells in the presence or absence of EGF suggested that despite the absence of HLA-G5 association with term explant-derived exosomes, it is present in exosomes secreted from mononuclear cytotrophoblast cells. Further, differentiation of cytotrophoblast cells reduced the presence of HLA-G5 in secreted exosomes. Together, the results suggest that the immunomodulatory proteins HLA-G5, B7-H1 and B7-H3, are secreted from early and term placenta, and have important implications in the mechanisms by which trophoblast immunomodulators modify the maternal immunological environment.

  13. Glycosylated fibronectin as a first-trimester biomarker for prediction of gestational diabetes.

    Science.gov (United States)

    Rasanen, Juha P; Snyder, Caryn K; Rao, Paturi V; Mihalache, Raluca; Heinonen, Seppo; Gravett, Michael G; Roberts, Charles T; Nagalla, Srinivasa R

    2013-09-01

    To evaluate the potential clinical utility of serum biomarkers for first-trimester prediction of gestational diabetes mellitus (GDM). Maternal serum concentrations of glycosylated (Sambucus nigra lectin-reactive) fibronectin, adiponectin, sex hormone-binding globulin, placental lactogen, and high-sensitivity C-reactive protein (CRP) were measured at 5-13 weeks of gestation in a case-control study of 90 pregnant women with subsequent development of GDM and in 92 control group participants. Ability to detect GDM was assessed using logistic regression modeling and receiver operating characteristic (ROC) curves. Classification performance and positive and negative predictive values were reported at specific thresholds. Glycosylated fibronectin variation across trimesters was evaluated using a serial-measures analysis of 35 nondiabetic control group participants. First-trimester serum concentrations of glycosylated fibronectin, adiponectin, high-sensitivity CRP, and placental lactogen were significantly associated (P<.001) with GDM. After adjustment for maternal factors and other biomarkers, glycosylated fibronectin demonstrated an independent association with GDM (P<.001). Adiponectin, high-sensitivity CRP, and placental lactogen demonstrated modest classification performance compared with glycosylated fibronectin (respectively: area under the curve [AUC] 0.63; 95% confidence interval [CI] 0.53-0.71; AUC 0.68; 95% CI 0.60-0.76; and AUC 0.67, 95% CI 0.59-0.75; compared with AUC 0.91; 95% CI 0.87-0.96). Glycosylated fibronectin levels above a threshold of 120 mg/L correctly identified 57 GDM case group participants with a positive predictive value of 63% (95% CI 53-72%) and a negative predictive value of 95% (95% CI 94-95%) at a population prevalence of 12%. There was no association between sex hormone-binding globulin and GDM. First-trimester glycosylated fibronectin is a potential pregnancy-specific biomarker for early identification of women at risk for GDM. II.

  14. Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid.

    Science.gov (United States)

    Zhang, Yao; Yang, Yan-ling; Hasegawa, Yuki; Yamaguchi, Seiji; Shi, Chun-yan; Song, Jin-qing; Sayami, Sujan; Liu, Ping; Yan, Rong; Dong, Jin-hua; Qin, Jiong

    2008-02-05

    Methylmalonic aciduria (MMA) is the most frequent disease of organic aciduria in China. Various biochemical strategies are followed for the prenatal diagnosis of MMA. However, since fetuses affected by MMA have decreased excretion of methylmalonic acid, the difficulties of prenatal biochemical diagnosis are obvious. Gas chromatography mass spectrometry (GC/MS) and tandem mass spectrometry (ESI/MS/MS) have allowed us to identify the disease in affected fetuses. The aim of this study was to determine the value of analysis of organic acids and total homocysteine in amniotic fluid in prenatal diagnosis of MMA. The clinical diagnoses and outcomes of nine probands with MMA and the prenatal diagnoses based on biochemical analysis of nine fetuses at risk for MMA were investigated. Amniotic fluid samples from pregnancies at risk for MMA and metabolically normal pregnancies were obtained at 16 - 24 weeks of gestation. Methylmalonic acid and methylcitric acid were measured by GC/MS, propionylcarnitine was analyzed by ESI/MS/MS, and total homocysteine was determined by fluorescence polarization immunoassay. In two pregnancies, high levels of methylmalonic acid, methylcitric acid, propionylcarnitine, and total homocysteine indicated combined MMA and homocysteinemia in the fetuses. One of the mothers continued pregnancy and received cobalamin supplement as prenatal treatment, and the other terminated her pregnancy. In one pregnancy, significantly elevated levels of methylmalonic acid, methylcitric acid, and propionylcarnitine, and normal level of total homocysteine was found indicating isolated MMA in the fetus; abortion was performed on this case. In the other six pregnancies, all the levels of the above mentioned metabolites were normal suggesting that the fetuses were not affected by MMA. The diagnoses were confirmed after delivery by testing urinary organic acids and plasma total homocysteine. The metabolic abnormalities of MMA occur early in gestation. The level of total

  15. Maternal Consumption of Non-Staple Food in the First Trimester and Risk of Neural Tube Defects in Offspring

    OpenAIRE

    Meng Wang; Zhi-Ping Wang; Li-Jie Gao; Hui Yang; Zhong-Tang Zhao

    2015-01-01

    To study the associations between maternal consumption of non-staple food in the first trimester and risk of neural tube defects (NTDs) in offspring. Data collected from a hospital-based case-control study conducted between 2006 and 2008 in Shandong/Shanxi provinces including 459 mothers with NTDs-affected births and 459 mothers without NTDs-affected births. Logistic regression models were used to examine the associations between maternal consumption of non-staple food in the first trimester...

  16. Variation of papp-a level in the first trimester of pregnancy and its clinical outcome.

    Science.gov (United States)

    Patil, Mithil; Panchanadikar, T M; Wagh, Girija

    2014-04-01

    Abnormalities in maternal serum marker levels and fetal measurements obtained during the first trimester screening can be a marker not only for certain chromosomal disorders and anomalies in the fetus but also for specific pregnancy complications. In particular, low maternal serum pregnancy-associated plasma protein-A (PAPP-A), at 11-13 weeks of gestation, is associated with stillbirth, infant death, intrauterine growth restriction, preterm birth, and pre-eclampsia in chromosomally normal fetuses, while a raised nuchal translucency is associated with specific structural abnormalities and genetic syndromes. We have studied the serum Papp-A level in 560 pregnant patients (11-13 weeks gestation) registered at Bharati Hospital and Research Centre, Pune. All patients undergoing testing were followed till the delivery and their neonatal outcome was also taken into consideration. Our aim is to study the pregnancy outcome in relation to the variations of Papp-A level in the first trimester of pregnancy. Every patient visiting the antenatal OPD was counseled for testing of First Trimester Screening to assess fetal well-being. Patients who were registered for delivery at our hospital were taken into the trial. Blood samples were taken at 11-13 weeks of pregnancy and sent to the PerkinElmer lab for analysis. Results were expressed in Multiple of Median and patients having MOM value less than 0.5 were carefully observed till the delivery, and a thorough neonatal examination was done by a pediatrician. 524 patients were included in the trial out of which 452 patients were found to have a normal Papp-A level of >0.5 MOM. All these patients were followed further during the antenatal period where 18 patients developed preterm labor and few patients developed pregnancy-induced hypertension. The obstetric outcome of patients with a normal Papp-A level was fairly uneventful as compared to others with a low Papp-A level. Though Papp-A level in the first trimester of pregnancy (11

  17. Adiposity and hyperleptinemia during the first trimester among pregnant women with preeclampsia

    Directory of Open Access Journals (Sweden)

    Yeboah FA

    2017-06-01

    Full Text Available Francis Agyemang Yeboah,1 Robert Amadu Ngala,1 Ahmed Tijani Bawah,2 Henry Asare-Anane,3 Huseini Alidu,2 Abdul-Wahab Mawuko Hamid,2 Joshua Dokurugu Kwame Wumbee4 1Department of Molecular Medicine, Kwame Nkrumah University of Science and Technology, Kumasi, 2Department of Medical Laboratory Science, University of Health and Allied Sciences, Ho, 3Department of Chemical Pathology, School of Biomedical and Allied Health Sciences, University of Ghana, Accra, 4Internal Quality Control Unit, Quality Control Directorate, Kumasi Technical University, Kumasi, Ghana Background: Leptin levels start increasing from the early stages of pregnancy, irrespective of the maternal body mass index. Leptin levels are increased in pregnant women with preeclampsia (PE and may precede the clinical onset of the disease, with peaks occurring around 28 weeks of gestation. This study was aimed at determining whether serum leptin concentration and body fat percentage are significantly altered during the first trimester in pregnancies that subsequently develop PE and whether such changes are useful in predicting the disease.Materials and methods: This was a prospective longitudinal study conducted among pregnant women in Ho municipality. A cohort of 314 pregnant women was monitored from the first antenatal visit to delivery period at the Volta Regional Hospital, Ho, Ghana. Maternal serum leptin and lipid profile were analyzed and body fat percentage determined during first trimester. Body mass index was also calculated.Results: First trimester serum leptin level (P<0.0001 and body fat percentage (P<0.0001 were significantly higher in those who developed PE than those who did not; while triglycerides (P=0.8600, total cholesterol (P=0.5620, high-density lipoprotein (P=0.5880, low-density lipoprotein (P=0.4870 and very low-density lipoprotein (P=0.6540 did not show any significant difference between those with PE and those without PE.Conclusion: Leptin levels are increased

  18. TNF-α alters the inflammatory secretion profile of human first trimester placenta.

    Science.gov (United States)

    Siwetz, Monika; Blaschitz, Astrid; El-Heliebi, Amin; Hiden, Ursula; Desoye, Gernot; Huppertz, Berthold; Gauster, Martin

    2016-04-01

    Implantation and subsequent placental development depend on a well-orchestrated interaction between fetal and maternal tissues, involving a fine balanced synergistic cross-talk of inflammatory and immune-modulating factors. Tumor necrosis factor (TNF)-α has been increasingly recognized as pivotal factor for successful pregnancy, although high maternal TNF-α levels are associated with a number of adverse pregnancy conditions including gestational hypertension and gestational diabetes mellitus. This study describes effects of exogenously applied TNF-α, mimicking increased maternal TNF-α levels, on the secretion profile of inflammation associated factors in human first trimester villous placenta. Conditioned culture media from first trimester villous placental explants were analyzed by inflammation antibody arrays and ELISA after 48 h culture in the presence or absence of TNF-α. Inflammation antibody arrays identified interleukin (IL)-6, IL-8, chemokine (C-C motif) ligand 2 (CCL2), CCL4, and granulocyte-macrophage colony-stimulating factor (GM-CSF) as the most abundantly secreted inflammation-associated factors under basal culture conditions. In the presence of TNF-α, secretion of GM-CSF, CCL5, and IL-10 increased, whereas IL-4 and macrophage CSF levels decreased compared with controls. ELISA analysis verified antibody arrays by showing significantly increased synthesis and release of GM-CSF and CCL5 by placental explants in response to TNF-α. Immunohistochemistry localized GM-CSF in the villous trophoblast compartment, whereas CCL5 was detected in maternal platelets adhering to perivillous fibrin deposits on the villous surface. mRNA-based in situ padlock probe approach localized GM-CSF and CCL5 transcripts in the villous trophoblast layer and the villous stroma. Results from this study suggest that the inflammatory secretion profile of human first trimester placenta shifts towards increased levels of GM-CSF, CCL5, and IL10 in response to elevated maternal

  19. Measurement of Nuchal Translucency Thickness for Detection of Chromosomal Abnormalities using First Trimester Ultrasound Fetal Images

    Directory of Open Access Journals (Sweden)

    S. Nirmala

    2009-12-01

    Full Text Available The Nuchal Translucency thickness measurement is made to identify the Down Syndrome in screening first trimester fetus and presented in this paper. The mean shift analysis and canny operators are utilized for segmenting the nuchal translucency region and the exact thickness has been estimated using Blob analysis. It is observed from the results that the fetus in the 14th week of Gestation is expected to have a nuchal translucency thickness of 1.87±0.25mm.Keywords- Down syndrome; Nuchal translucency thickness; Mean Shift Analysis; Blob analysis;

  20. Three-dimensional colour Doppler of ductus venous agenesis in the first trimester

    Directory of Open Access Journals (Sweden)

    Divya Singh

    2016-11-01

    Full Text Available Ductus venosus (DV has a pivotal role in the fetal circulation. It serves as a conduit connecting the fetal umbilical and portal venous system with the inferior vena cava (IVC. The absence of DV is an uncommon anomaly. In case of agenesis of DV, the umbilical vein joins the fetal systemic venous circulation via the intra-hepatic or extra-hepatic route. We report a case of absent DV with associated anomaly diagnosed in the first trimester using three-dimensional (3D colour Doppler.

  1. First-trimester multimarker prediction of gestational diabetes mellitus using targeted mass spectrometry

    DEFF Research Database (Denmark)

    Ravnsborg, Tina; Andersen, Lise Lotte T; Trabjerg, Natacha D.

    2016-01-01

    Aims/hypothesis: Gestational diabetes mellitus (GDM) is associated with an increased risk of pre-eclampsia, macrosomia and the future development of type 2 diabetes mellitus in both mother and child. Although an early and accurate prediction of GDM is needed to allow intervention and improve...... perinatal outcome, no single protein biomarker has yet proven useful for this purpose. In the present study, we hypothesised that multimarker panels of serum proteins can improve first-trimester prediction of GDM among obese and non-obese women compared with single markers. Methods: A nested case...

  2. Prenatal diagnosis of six major cardiac malformations in Europe - A population based study

    NARCIS (Netherlands)

    Garne, E

    Aim. To present data on prenatal diagnosis of six major cardiac malformations in low-risk European populations. Methods. Data from 12 Eurocat registries on congenital malformations. All registries have multiple sources of information and use the same methods of data collection and coding. The six

  3. Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma – Single Centre Experience

    Directory of Open Access Journals (Sweden)

    Ramush Bejiqi

    2017-03-01

    CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor neonatal outcome.

  4. Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis

    DEFF Research Database (Denmark)

    László, Aranka; Endreffy, Emoke; Tümer, Zeynep

    2010-01-01

    from MD and prenatal diagnosis was done in this MD loaded family. METHOD: The 12th exon of ATP7A gene has been analyzed by dideoxy-finger printing (DDF), polymerase chain reaction (PCR), direct sequencing of exon 12. The specific mutation was screened from chorionic villi of the maternal aunt at the 14...

  5. Influence of the 20-week anomaly scan on prenatal diagnosis and management of fetal facial clefts

    NARCIS (Netherlands)

    Ensing, S.; Kleinrouweler, C. E.; Maas, S. M.; Bilardo, C. M.; Van der Horst, C. M. A. M.; Pajkrt, E.

    2014-01-01

    Objective To investigate trends in prenatal diagnosis and termination of pregnancy rates in cases of fetal cleft lip with or without cleft palate (CL +/- P), before and after the introduction in The Netherlands of the 20-week anomaly scan in 2007, and to assess the accuracy of this scan for the diag

  6. Correlation between prenatal diagnosis by ultrasound and fetal autopsy findings in second-trimester abortions

    DEFF Research Database (Denmark)

    Hauerberg, Laura; Skibsted, Lillian; Graem, Niels;

    2012-01-01

    We evaluated the correlation between prenatal diagnosis by ultrasound and autopsy findings, based on 52 second-trimester pregnancies terminated due to fetal malformations or chromosome aberrations diagnosed at a gestational age of 12-25 weeks. In 24 pregnancies, there was full agreement between u...

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

    Science.gov (United States)

    Meryash, D L; Abuelo, D

    1988-05-01

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

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

    Science.gov (United States)

    Wunsch, M; Pompino, H J

    1991-01-01

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

  9. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

    DEFF Research Database (Denmark)

    Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne

    2004-01-01

    OBJECTIVE: To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS: Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected...

  10. Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.

    Science.gov (United States)

    Celentano, Claudio; Prefumo, Federico; Liberati, Marco; Gallo, Giuseppina; Di Nisio, Quirino; Rotmensch, Sigfried

    2006-06-01

    The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findings. MGS was previously described following in vitro fertilization. We report a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intra-cytoplasmic sperm injection (ICSI).

  11. WOMENS OPINIONS ON THE OFFER AND USE OF PRENATAL-DIAGNOSIS

    NARCIS (Netherlands)

    TYMSTRA, T; BAJEMA, C; BEEKHUIS, [No Value; MANTINGH, A

    1991-01-01

    We have studied the opinions and attitudes of women towards prenatal diagnosis (amniocentesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the d

  12. Ectopia cordis with endocardial cushion defect: Prenatal ultrasonographic diagnosis with autopsy correlation.

    Science.gov (United States)

    Balakumar, K; Misha, K

    2010-07-01

    The prenatal ultrasonographic diagnosis of ectopia cordis associated with a complex intra-cardiac defect (common atrium, common atrioventricular valve with single ventricle) is illustrated in a 32-week gestation fetus. The fetus showed associated features of amniotic band disruption sequence. The cardiac autopsy findings correlated with the antenatal diagnosis. The association of ectopia cordis with amniotic band disruption is rare and infrequently reported in literature.

  13. Ectopia cordis with endocardial cushion defect: Prenatal ultrasonographic diagnosis with autopsy correlation

    OpenAIRE

    Balakumar K; Misha K

    2010-01-01

    The prenatal ultrasonographic diagnosis of ectopia cordis associated with a complex intra-cardiac defect (common atrium, common atrioventricular valve with single ventricle) is illustrated in a 32-week gestation fetus. The fetus showed associated features of amniotic band disruption sequence. The cardiac autopsy findings correlated with the antenatal diagnosis. The association of ectopia cordis with amniotic band disruption is rare and infrequently reported in literature.

  14. Ectopia cordis with endocardial cushion defect: Prenatal ultrasonographic diagnosis with autopsy correlation

    Directory of Open Access Journals (Sweden)

    Balakumar K

    2010-01-01

    Full Text Available The prenatal ultrasonographic diagnosis of ectopia cordis associated with a complex intra-cardiac defect (common atrium, common atrioventricular valve with single ventricle is illustrated in a 32-week gestation fetus. The fetus showed associated features of amniotic band disruption sequence. The cardiac autopsy findings correlated with the antenatal diagnosis. The association of ectopia cordis with amniotic band disruption is rare and infrequently reported in literature.

  15. Cell-free fetal DNA in maternal plasma and noninvasive prenatal diagnosis

    OpenAIRE

    Ester Silveira Ramos

    2006-01-01

    The noninvasive nature of the detection of fetal DNA in the maternal circulation represents the greatest advantage over the conventional methods of prenatal diagnosis. The applications of this methodology involve the detection of the fetal sex, and diagnosis, intra-uterine treatment, and evaluation of the prognosis of many diseases. Fetal cells detected in the maternal circulation have also been shown to be implicated in autoimmune diseases and to represent a potential source of stem cells. O...

  16. Efficacy of first-trimester ultrasound parameters for prediction of early spontaneous abortion.

    Science.gov (United States)

    Datta, Mamta Rath; Raut, Ankush

    2017-09-01

    To assess first-trimester ultrasound measurements for the prediction of early spontaneous abortion. In a prospective observational study in Jamshedpur, India, women with singleton pregnancies of 42-76 days were enrolled between November 2014 and April 2016. Inclusion criteria were spontaneous conception, embryonic cardiac activity, and regular menstrual cycle. Fetal crown-to-rump length (CRL), gestational sac diameter (GSD), yolk sac diameter (YSD), and fetal heart rate (FHR) were measured by transvaginal ultrasonography. Ultrasonography was repeated at 12 weeks and beyond to determine pregnancy continuation. Among 800 women, 140 (17.5%) experienced early spontaneous abortion. CRL, GSD, and FHR values below the 5th percentile (odds ratio [OR] 26.48, 26.94, and 100.63, respectively), and YSD above the 95th percentile (OR 1.04) were predictors of early abortion. Normal YSD did not reduce the risk of abortion if the other three parameters were below the 5th percentile (OR 34.27). For every 10-bpm decrease in FHR below 130, there was 26.7% increased risk of abortion. GSD-CRL difference of less than 5 mm was associated with a higher likelihood of abortion (OR 4.88). First-trimester ultrasound measurements are predictors of early abortion. Risk assessment tables based on combinations of abnormal measures might improve prediction rates. © 2017 International Federation of Gynecology and Obstetrics.

  17. Practice bulletin no. 143: medical management of first-trimester abortion.

    Science.gov (United States)

    2014-03-01

    Over the past three decades, medical methods of abortion have been developed throughout the world and are now a standard method of providing abortion care in the United States. Medical abortion, which involves the use of medications rather than a surgical procedure to induce an abortion, is an option for women who wish to terminate a first-trimester pregnancy. Although the method is most commonly used up to 63 days of gestation (calculated from the first day of the last menstrual period), the treatment also is effective after 63 days of gestation. The Centers for Disease Control and Prevention estimates that 64% of abortions are performed before 63 days of gestation (1). Medical abortions currently comprise 16.5% of all abortions in the United States and 25.2% of all abortions at or before 9 weeks of gestation (1). Mifepristone, combined with misoprostol, is the most commonly used medical abortion regimen in the United States and Western Europe; however, in parts of the world, mifepristone remains unavailable. This document presents evidence of the effectiveness, benefits, and risks of first-trimester medical abortion and provides a framework for counseling women who are considering medical abortion.

  18. Comparison of gemeprost and vaginal misoprostol in first trimester mifepristone-induced abortion.

    Science.gov (United States)

    Svendsen, Pernille Fog; Rørbye, Christina; Vejborg, Thomas; Nilas, Lisbeth

    2005-07-01

    The aim of this study was to compare efficacy and side effects of gemeprost and vaginal misoprostol in mifepristone-induced abortions in women up to 63 days of gestation. A retrospective study of 833 consecutive patients admitted for medical termination of first trimester pregnancy was conducted. Four-hundred ten patients received mifepristone 600 mg, followed 48 h later by gemeprost 1 mg (regimen I), and 423 patients received mifepristone 200 mg followed by vaginal misoprostol 800 microg (regimen II). Success rates were evaluated after 2 weeks and after 3 months. The severity of bleeding and side effects (pain, nausea, vomiting and diarrhea) was scored by the patients, and requests for supplementary analgesic treatment were recorded by the attending nurse. Success rates were 99% in both groups after 2 weeks of follow-up. At 3 months of follow-up, success rates had declined to 94% for regimen I and 96% for regimen II. The frequency of severe pain was higher in regimen I compared to regimen II (72% vs. 60%, p misoprostol are equally effective for termination of first trimester abortion, but may be associated with varying intensity of side effects.

  19. Preeclampsia and level of oxidative stress in the first trimester of pregnancy

    Directory of Open Access Journals (Sweden)

    Bogavac Mirjana

    2017-01-01

    Full Text Available Background/Aim. Preeclampsia (PE is a multisystemic syndrome that complicates 5–8% of all pregnancies. The aim of this study was to evaluate the biochemical parameters of oxidative stress in the first trimester of pregnancy in patients with preeclampsia, with the purpose of comparing the level of oxidative stress with normal pregnancy. Methods. The study was conducted as a prospective study. It included totally 107 pregnant women divided into two groups. In the study group (n = 33 there were women who developed preeclampsia in the current pregnancy. The control group (n = 74 included healthy pregnant women. Blood samples were taken between 11th and 14th weeks of gestation, and the values of superoxide dismutase (SOD, glutathione peroxidase (GSH-Px and total antioxidant status (TAS were determined in serum by enzymatic colorimetric methods. Results. The values of SOD and GHS-Px were statistically higher in the study group, while the values of TAS were statistically higher in the control group. The level of TAS inversely correlated with GSH-Px and SOD, but there is no statistically significant correlation between GSHPx and SOD in the study group. Conclusion. The results of this study suggest a higher level of oxidative stress in the first trimester of pregnancy with preeclampsia, which may indicate that the initiation and development of pathophysiological processes underlying preeclampsia start much earlier than the clinical syndrome exhibit. [Project of the Serbian Ministry of Education, Science and Technological Development, Grant no. 174019

  20. Identification and localization of netrin-4 and neogenin in human first trimester and term placenta.

    Science.gov (United States)

    Dakouane-Giudicelli, M; Duboucher, C; Fortemps, J; Salama, S; Brulé, A; Rozenberg, P; de Mazancourt, P

    2012-09-01

    We describe here for the first time the characterization of family member of netrins, netrin-4 and its receptor neogenin, during the development of the placenta. By using western blots and RT-PCR, we demonstrated the presence of netrin-4 and its receptor neogenin protein as well as their transcripts. Using immunohistochemistry, we studied the distribution of netrin-4 and neogenin in both the first trimester and term placenta. We observed staining of netrin-4 in villous and extravillous cytotrophoblasts, syncytiotrophoblast, and endothelial cells whereas staining in stromal cells was faint. In decidua, we observed netrin-4 labelling in glandular epithelial cells, perivascular decidualized cells, and endothelial cells. However, neogenin was absent in villous and extravillous cytotrophoblasts and was expressed only on syncytiotrophoblast and placental stromal cells in the first trimester and at term placenta. The pattern of distribution suggests that a functional netrin-4-neogenin pathway might be restricted to syncytiotrophoblasts, mesenchymal cells, and villous endothelial cells. This pathway function might vary with its localization in the placenta. It is possibly involved in angiogenesis, morphogenesis, and differentiation.

  1. Role of Oxidative Stress on Vaginal Bleeding during The First Trimester of Pregnant Women

    Directory of Open Access Journals (Sweden)

    Rüya Deveer

    2014-01-01

    Full Text Available Background: Reactive oxygen species (ROS are produced in many metabolic and physiologic processes. Antioxidative mechanisms remove these harmful species. Our aim was to assess whether serum total antioxidant capacity and total oxidant status altered during first trimester pregnancies with vaginal bleeding. Materials and Methods: In this cross-sectional study, A group of pregnant women at less than 10 weeks of gestation with vaginal bleeding (n=25 and a control group of healthy pregnancies with similar characteristics (n=25 were included. All of the patients in the two groups were matched for age, gestational age and body mass index. Serum total antioxidant capacity and total oxidant status levels were determined using a Hitachi 912 analyzer and compared between the two groups. Results: Characteristics, including maternal age, parity, and gestational age were similar between the two groups. Serum total antioxidant capacity levels were significantly lower in the women with vaginal bleeding than in control women (1.16 ± 0.20 vs. 1.77 ± 0.08 mmol Trolox Equiv./L; p=0.001, whereas higher total oxidant status measurements were found in women with vaginal bleeding compared to the control group (4.01 ± 0.20 vs. 2.57 ± 0.65 μmol H2O2 Equiv./L; p=0.001. Conclusion: Increased total oxidant status might be involved in the pathophysiology of vaginal bleeding during early first trimester pregnancies.

  2. Prospective first-trimester screening for trisomy 21 in 30,564 pregnancies.

    Science.gov (United States)

    Avgidou, Kyriaki; Papageorghiou, Aris; Bindra, Renu; Spencer, Kevin; Nicolaides, Kypros H

    2005-06-01

    This study was undertaken to evaluate the performance of a 1-stop clinic for first-trimester assessment of risk (OSCAR) for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness, and maternal serum-free ss- human chorionic gonadotrophin (hCG) and pregnancy-associated plasma protein-A (PAPP-A). OSCAR was carried out in 30,564 pregnancies at 11 to 13 + 6 weeks. Patient-specific risks for trisomy 21 and detection and false-positive rates were calculated. The median maternal age was 34 (range 15-49) years. Chromosomal abnormalities were identified in 330 pregnancies, including 196 cases of trisomy 21. The estimated risk for trisomy 21 was 1 in 300 or greater in 7.5% of the normal pregnancies, in 93.4% of those with trisomy 21 and in 88.8% of those with other chromosomal defects. The most effective method of screening for chromosomal defects is by first-trimester fetal NT and maternal serum biochemistry.

  3. The significance of fetal maxillary length in the first trimester screening for trisomy 21.

    Science.gov (United States)

    Unsal, Naim; Ozat, Mustafa; Kanat-Pektas, Mine; Gungor, Tayfun; Danisman, Nuri

    2011-06-01

    The present study aims to specify the significance of fetal maxillary length by establishing a nomogram for a Turkish population and by investigating its relationship with the ultrasonographic and biochemical parameters which are commonly used to screen trisomy 21 in the first trimester of pregnancy. The present observational study investigates 1,308 Turkish women who had 11- to 14-week-old singleton healthy pregnancies. Fetal crown-rump length (CRL), nuchal translucency (NT), nasal bone length (NBL) and maxillary length are measured by ultrasonography and maternal serum concentrations of pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (HCG) are determined. A positive and significant correlation was detected between the fetal maxillary length and gestational age (r = 0.309, P HCG (r = -0.238, P trisomy 21 in first trimester. Fetal maxillary length is also found to correlate with gestational age, CRL, NBL and PAPP-A significantly. It would be rational to use a combination of nasal and maxillary bone length measurements in case serum concentrations of PAPP-A or beta-HCG cannot be assessed.

  4. First-trimester screening for trisomy 21 using alpha-fetoprotein.

    Science.gov (United States)

    Bredaki, Foteini E; Wright, David; Matos, Pedro; Syngelaki, Argyro; Nicolaides, Kypros H

    2011-01-01

    To investigate the potential value of adding maternal serum alpha-fetoprotein (AFP) to free β-human chorionic gonadotropin (β-hCG) and PAPP-A and fetal nuchal translucency (NT) thickness in first-trimester screening for trisomy 21. In this case control study, serum AFP was measured in 100 trisomy 21 and 1,500 euploid pregnancies in which screening for trisomy 21 had been performed by a combination of serum free β-hCG and PAPP-A and fetal NT at 11-13 weeks' gestation. We examined the effect of adding AFP on the performance of screening by the combined test. In the trisomy 21 pregnancies, the median multiple of the normal median AFP, adjusted for gestational age, maternal weight, racial origin, smoking status and method of conception, was significantly reduced (0.7037, 95% CI: 0.6398-0.7739). Adding AFP to the combined test improved the performance of screening and for a risk cut-off of 1 in 100, the false-positive rate was reduced from 2.8 by 0.4% (95% CI: 0.13-0.77%) without a significant change in detection rate. Inclusion of serum AFP improves the performance of the first-trimester combined test in screening for trisomy 21. Copyright © 2011 S. Karger AG, Basel.

  5. COMPARISON BETWEEN SUBLINGUAL AND VAGINAL ROUTE OF MISOPROSTOL IN MANAGEMENT OF FIRST TRIMESTER MISCARRIAGE MISSING

    Science.gov (United States)

    Dehbashi, Zahra; Moosazadeh, Mahmood; Afshari, Mahdi

    2016-01-01

    Background: Each year, more than forty million abortions are occurred whole of the world. Misoprostol is a prostaglandin analogue with a strong uterotonic effect. The present study aimed to compare the efficacy of Misoprostol in first trimester abortion through two sublingual and vaginal routes of administration. Methods: This randomized clinical trial was conducted on 52 consecutive women in first trimester candidate for pregnancy termination because of fetal IUFD or missed abortion in sonography reports. The patients were hospitalized and then randomly assigned to receive sublingual Misoprostol (400 µg, n 27) or vaginal Misoprostol (400 µg placed in posterior fornix, n = 25). Findings: None of the pregnant in the sublingual group developed complete abortion at the end of follow-up time, while 36% of women inducted with vaginal misoprostol experienced complete abortion indicating a intergroup significant difference (p = 0.001). Compared with vaginal group, those women in sublingual group experienced more complications including diarrhea (22.2% versus 20.0%), nausea and vomiting (22.2% versus 0.0%), and abdominal pain (3.7% versus 0.0%). Conclusion: The use of Misoprostol in vaginal route results in more abortion completeness as well as lower complication rate as compared to sublingual prescription of the drug. PMID:27698600

  6. Detection of human aneuploidies in prenatal and postnatal diagnosis using molecular cytogenetics

    Directory of Open Access Journals (Sweden)

    Kucheria Kiran

    2002-01-01

    Full Text Available Chromosomal aneuploidies especially trisomies 13, 18, 21, monosomy X and 47, XXY account for up to 95% of live born cytogenetic abnormalities. The diagnosis of aneuploidies usually done by conventional cytogenetic analysis (CCA is associated with technical difficulties and requires about 1-3 weeks for providing a result, especially in prenatal diagnosis. In the present study, Fluorescence In Situ Hybridization (FISH was used on interphase cells for rapid prenatal and postnatal detection of aneuploidies. The frequent indications of high pregnancies included for prenatal diagnosis were previous child with chromosomal abnormalities, abnormal ultrasound scan and advanced maternal age (> 35 years. Interphase FISH was done using probes specific for chromosomes 13, 18, 21, X and Y on uncultured chorionic villi and amniotic fluid samples. All samples were analyzed subsequently using conventional cytogenetics. The analysis of aneuploidies for chromosomes 13, 15, 16, 18, 21, 22, X and Y using FISH was extended to abortuses from spontaneous abortion cases. In cases where cytogenetics was not informative, a diagnosis could be made using interphase FISH. For postnatal diagnosis, interphase FISH was done to confirm low-level mosaicism in patients with primary amenorrhea, suspected cases of Klinefelter syndrome, and mental retardation using probes specific for various autosomes, X and Y chromosomes. FISH was also done using probe specific for the sex-determining region (SRY on the Y chromosome in cases with ambiguous genitalia. The SRY region could be identified in cases that lacked the Y chromosome on conventional cytogenetic analysis thereby emphasizing on the high resolution of FISH technique in detecting sub-microscopic rearrangements. To conclude, interphase FISH decreases the time interval between sampling and diagnosis. This is of tremendous value in prenatal diagnosis of urgent high-risk pregnancies, management of ambiguous genitalia and low

  7. Experiences of prenatal diagnosis and decision-making about termination of pregnancy: A qualitative study.

    Science.gov (United States)

    Hodgson, Jan; Pitt, Penelope; Metcalfe, Sylvia; Halliday, Jane; Menezes, Melody; Fisher, Jane; Hickerton, Chriselle; Petersen, Kerry; McClaren, Belinda

    2016-12-01

    Advances in genetic technologies and ultrasound screening techniques have increased the ability to predict and diagnose congenital anomalies during pregnancy. As a result more prospective parents than ever before will receive a prenatal diagnosis of a fetal abnormality. Little is known about how Australian women and men experience receiving a prenatal diagnosis and how they make their decision about whether or not to continue the pregnancy. This qualitative study aims to describe parental experiences and examine how best to provide support after a prenatal diagnosis. Individual in-depth interviews were conducted with 102 women and men approximately six weeks post-diagnosis of fetal abnormality. Data were elicited using a narrative, chronological approach and women (n = 75) and a sample of male partners (n = 27) were separately interviewed. Thematic analysis, involving a rigorous process of qualitative coding, enabled iterative development and validation of emergent themes. Participants identified that the shock of the diagnosis can be lessened when good care is delivered, by provision of: clear, accurate and respectful communication; empathic, non-judgemental, professional support; timely access to further testing and appointments; seamless interactions with services and administration; appropriate choices about invasive testing; acknowledgment of the enormity and unexpected nature of the diagnosis, and of the subsequent decision-making challenges; and discussion of the myriad feelings likely to emerge throughout the process. This study has demonstrated the importance of providing timely access to accurate information and supportive, non-judgemental care for women and their partners following prenatal diagnosis of a fetal abnormality. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  8. Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

    Science.gov (United States)

    Méndez-Rosado, L A; Hechavarría-Estenoz, D; de la Torre, M E; Pimentel-Benitez, H; Hernández-Gil, J; Perez, B; Barrios-Martínez, A; Morales-Rodriguez, E; Soriano-Torres, M; Garcia, M; Suarez-Mayedo, U; Cedeño-Aparicio, N; Blanco, I; Díaz-Véliz, P; Vidal-Hernández, B; Mitjans-Torres, M; Miñoso, S; Alvarez-Espinosa, D; Reyes-Hernández, E; Angulo-Cebada, E; Torres-Palacios, M; Lozano-Lezcano, L; Lima-Rodriguez, U; Mayeta, M; Noblet, M; Benítez, Y; Lardoeyt-Ferrer, R; Yosela-Martin, S; Carbonell, P; Pérez-Ramos, M; de León, N; Perez, M; Carbonell, J

    2014-11-01

    To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba. © 2014 John Wiley & Sons, Ltd.

  9. Prenatal diagnosis of Meckel-Gruber syndrome case reports.

    Science.gov (United States)

    Su, S L; Liu, C M; Lee, J N

    1995-02-01

    Two cases of Meckel-Gruber syndrome are presented. In the first case, abdominal tumor and decreased amniotic fluid were initially suspected. In the second case, Omphalocele was diagnosed by local practitioners. Thorough obstetric sonographic studies revealed encephalocele, bilateral renal cystic dysplasia, polydactyly, microcephalus, intrauterine growth retardation (IUGR) and oligohydramnios. Chromosomal analysis by percutaneous umbilical cord blood sampling (PUBS) was normal with 46,XY in Case 1 and 46,XX in Case 2. The prenatal diagnoses were confirmed by autopsy. The pathologic reports revealed type I polycystic kidney, bile duct proliferation, fibrosis of the portal area, encephalocele and polydactyly. It is interesting to note that the two cases came from two different families without any family history of inherited disease.

  10. Congenital cystic adenomatoid malformation: impact of prenatal diagnosis and changing strategies in the treatment of the asymptomatic patient.

    Science.gov (United States)

    Marshall, K W; Blane, C E; Teitelbaum, D H; van Leeuwen, K

    2000-12-01

    This study was designed to assess the effect of prenatal sonographic diagnosis on the treatment of congenital cystic adenomatoid malformation of the lung. The medical records of 27 patients with pathologically proven congenital cystic adenomatoid malformations were retrospectively reviewed. Patients were divided into four groups based on mode of presentation: with or without abnormal findings on prenatal sonography and with or without symptoms at birth. Age at diagnosis, age at surgical intervention, complications, and length of hospital stay were recorded for each group. Twenty-seven patients with 31 proven congenital cystic adenomatoid malformations were included. Eleven patients underwent prenatal sonography establishing the diagnosis (6 asymptomatic at birth, 5 symptomatic), and 16 did not have a prenatal diagnosis (10 asymptomatic at birth, 6 symptomatic). In the symptomatic populations, prenatal diagnosis had no impact on age at surgery, length of stay, or surgical complication rate (p = 0.78-0.83). In the asymptomatic population, prenatal diagnosis allowed early diagnosis (p < 0.001) and resection in the asymptomatic period. It was also associated with a shorter length of stay at the time of surgical resection (mean time, 4.2 days for patients with prenatal diagnosis versus 12.9 days for those without it;p < 0.001) and with a trend toward lower serious complication rate (3 patients without prenatal diagnosis versus 1 patient with it). Prenatal sonography provides the radiologist a means to identify congenital cystic adenomatoid malformations in a population of infants who are asymptomatic at birth. Surgical intervention in the asymptomatic infant is associated with a shorter length of stay, a trend toward fewer complications, and decreased medical cost compared with intervening after symptoms develop.

  11. Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign

    Energy Technology Data Exchange (ETDEWEB)

    Garel, Catherine [Trousseau Hospital, University Hospitals of the East of Paris, Department of Radiology, Paris (France); Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France); Dhouib, Amira; Sileo, Chiara; Ducou le Pointe, Hubert [Trousseau Hospital, University Hospitals of the East of Paris, Department of Radiology, Paris (France); Cormier-Daire, Valerie [Paris Descartes University, Sorbonne Paris Cite, Necker-Enfants-Malades Hospital, Department of Genetics, Paris (France)

    2014-03-15

    Metatropic dysplasia is a very rare form of osteochondrodysplasia with only one case of prenatal diagnosis described in the literature. It is characterized by marked shortening of the long bones with severe platyspondyly and dumbbell-shape metaphyses. We report a case of metatropic dysplasia that was diagnosed prenatally and describe the findings on US and CT. The pregnancy was terminated and the post-mortem radiographs are shown. The woman had been referred for short and bowed long bones. Severe metaphyseal enlargement was a misleading finding because it had been misinterpreted as limb bowing. Thus when abnormal curvature of the long bones is observed at prenatal US, attention should be drawn not only to the diaphyses but also to the metaphyses because severe metaphyseal enlargement might be responsible for pseudo-bowing. (orig.)

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

    Science.gov (United States)

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

    2002-10-01

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

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

    Science.gov (United States)

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

    2016-04-30

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

  14. Meckel Gruber syndrome: a first trimester diagnosis of a recurrent case.

    Science.gov (United States)

    Tanriverdi, Hamit Alper; Hendrik, Hans Joachim; Ertan, Kubilay; Schmidt, Werner

    2002-06-01

    We report of a case of Meckel Gruber Syndrome (MGS) in a woman, who suffered previously from a pregnancy with the same disorder. MGS, consisting of an occipital encephalocele, bilateral cystic kidneys and postaxial polydactyly, is a rare autosomal recessive disorder, with a recurrence risk of 25%. With the present technology, a targeted ultrasound in the late embryonic or early fetal stages of pregnancy has the potential to diagnose this syndrome. Clinical screening in further pregnancies is of utmost importance and the management of such cases is presented.

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

    Science.gov (United States)

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

    2014-08-10

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

  16. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe

    NARCIS (Netherlands)

    Boyd, PA; Wellesley, DG; De Walle, HEK; Tenconi, R; Garcia-Minaur, S; Zandwijken, GRJ; Stoll, C; Clementi, M

    2000-01-01

    Objective-Evaluation of prenatal diagnosis of neural tube defects by ultrasound examination in unselected populations across Europe. Setting-Prenatal ultrasound units in areas that report to contributing congenital malformation registers. Methods-All cases with a suspected or confirmed neural tube d

  17. Two-stage first-trimester screening for trisomy 21 by ultrasound assessment and biochemical testing.

    Science.gov (United States)

    Kagan, K O; Staboulidou, I; Cruz, J; Wright, D; Nicolaides, K H

    2010-11-01

    This study was carried out to examine the performance of a contingent policy in first-trimester screening for trisomy 21, in which the estimated risk was first derived by a combination of maternal age, fetal nuchal translucency (NT) thickness, presence/absence of the nasal bone, blood flow in the ductus venosus or flow across the tricuspid valve, and biochemical testing was carried out only in those who were found to have an intermediate risk. We also examined the performance of a policy in which the estimated risk was first derived by a combination of maternal age and biochemical testing, and ultrasound examination was carried out only in those with an intermediate risk. The data for this study were derived from prospective screening for trisomy 21 in singleton pregnancies, using, as markers, a combination of maternal age, fetal NT thickness and maternal-serum free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A), in a one-stop clinic for first-trimester assessment of risk at 11 + 0 to 13 + 6 weeks of gestation. Assessment of the fetal nasal bone, ductus venosus flow and tricuspid flow were also routinely performed by appropriately trained sonographers. The performance of different screening policies was examined. The study population consisted of 19 614 pregnancies with a normal karyotype or delivery of a phenotypically normal baby (euploid group) and 122 cases of trisomy 21. The best performance was achieved by a contingent policy in which first-stage screening was based on maternal age, fetal NT thickness and either tricuspid valve or ductus venosus blood flow, followed by biochemical testing only those with an intermediate risk, of 1 in 51 to 1 in 1000 (which constituted about 20% of the total). The performance of contingent screening in which first-stage testing relies on biochemistry was poorer than when first-stage screening was performed by ultrasound examination because, in order to achieve the same detection

  18. Women’s experiences with doula support during first-trimester surgical abortion: A qualitative study

    Science.gov (United States)

    Chor, Julie; Lyman, Phoebe; Tusken, Megan; Patel, Ashlesha; Gilliam, Melissa

    2015-01-01

    Objective To explore how doula support influences women’s experiences with first-trimester surgical abortion. Study Design We conducted semi-structured interviews with women given the option to receive doula support during first-trimester surgical abortion in a clinic that uses local anesthesia and does not routinely allow support people to be present during procedures. Dimensions explored included: (1) reasons women did or did not choose doula support; (2) key aspects of the doula interaction; (3) future directions for doula support in abortion care. Interviews were transcribed and computer-assisted content analysis was performed; salient themes are presented. Results Thirty women were interviewed: 19 received and 11 did not receive doula support. Reasons to accept doula support included: (1) wanting companionship during the procedure; (2) being concerned about the procedure. Reasons to decline doula support included (1) a sense of stoicism and desiring privacy; or (2) not wanting to add emotion to this event. Women who received doula support universally reported positive experiences with the verbal and physical techniques used by doulas during the procedure and most women who declined doula support subsequently regretted not having a doula. Many women endorsed additional roles for doulas in abortion care, including addressing informational and emotional needs before and after the procedure. Conclusion Women receiving first-trimester surgical abortion in this setting value doula support at the time of the procedure. This intervention has the potential to be further developed to help women address pre- and post-abortion informational and emotional needs. Implications In a setting that does not allow family or friends to be present during the abortion procedure, women highly valued the presence of trained abortion doulas. This study speaks to the importance of providing support to women during abortion care. Developing a volunteer doula service is one approach to

  19. Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

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    Neerja Gupta

    2013-01-01

    Full Text Available Peters’ plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters’ plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a clue to the diagnosis that was confirmed later on by the DNA analysis.

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

    Science.gov (United States)

    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

  1. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

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    Halit Akbas

    2013-01-01

    Full Text Available Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0 referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH. However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb and 4q35.2 (2.449 Mb. In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

  2. 45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis.

    Science.gov (United States)

    Wheeler, M; Peakman, D; Robinson, A; Henry, G

    1988-03-01

    The process of prenatal diagnosis is unique in that the diagnosis and prognosis are made without seeing the patient. 45,X/46,XY mosaicism presents a special problem in this regard. The phenotype of 45,X/46,XY postnatally diagnosed children (pediatric group) was compared to that of 6 fetuses who were diagnosed from 7,000 amniocenteses (prenatal group). These amniocenteses were performed primarily because of an increased risk of chromosome abnormality. The pediatric group (age birth-18 yr) were all phenotypically abnormal, although none were mentally retarded. Seven patients presented with ambiguous genitalia, while 2 had primary amenorrhea. Sexual assignment was changed in 2. Abnormalities included rudimentary phallus, urogenital sinus, hypospadias, undescended testes, and short stature. All 9 patients required at least one surgical procedure. In contrast, the prenatally diagnosed fetuses (ages 3 months to 3 1/2 yr) were all phenotypically normal males. Four were noted to have male genitalia on ultrasonography. Thus, the phenotype of 45,X/46,XY mosaicism in prenatally diagnosed fetuses can be markedly different from that of individuals diagnosed postnatally. This must be considered when counseling patients.

  3. Prenatal Diagnosis of Chronic Granulomatous Disease in a Male Fetus

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    Yavuz Köker m

    2009-03-01

    Full Text Available Mutations in any of four known NADPH-oxidase components lead to CGD. X-linked CGD (X-CGD is caused by defects in CYBB, the gene that encodes gp91-phox. Autosomal recessive (AR CGD is caused by defects in the genes for p47 phox, p22-phox or p67-phox. The aim of this study was to screen the molecular defect in the fetus of an X-CGD carrier mother and postnatal confirmation of the results. In a family whose first-born child died from X-CGD, fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS. Direct sequencing was used to detect the previously identified CYBB gene mutation. The NADPH oxidase activity in the neutrophils from the carrier mother and from the newborn was analyzed by the DHR assay. Our studies predicted that the fetus in question was not affected by chronic granulomatous disease, which was demonstrated to be correct at birth. For prenatal screening in a pregnant X-CGD carrier, direct sequencing is a good method for detecting the mutation in the fetal DNA. Postnatal confirmation of results with the DHR assay is more practical than mutation screening to show whether the newborn have normal NADPH oxidase activity or does not.

  4. Parvovirus B19 Infection in the First Trimester of Pregnancy and Risk of Fetal Loss

    DEFF Research Database (Denmark)

    Lassen, Jonathan; Jensen, Anne K V; Bager, Peter

    2012-01-01

    Because parvovirus B19 infection during pregnancy has been associated with increased risk of fetal loss in small or selected study populations, the authors evaluated the risk in a population-based study. A nested case-control study was conducted by using a population-based screening for syphilis...... were tested for parvovirus B19 immunoglobulin M positivity. Parvovirus B19 immunoglobulin M positivity was associated with a 71% increased risk of fetal loss (odds ratio = 1.71, 95% confidence interval: 1.02, 2.86). Adjustment for number of children or stratifying for gestational age at loss did...... not change the risk estimate. Assuming causality, only 0.1% of fetal losses were attributable to parvovirus B19 positivity, a proportion which could increase to approximately 1% during epidemic periods. In conclusion, acute parvovirus B19 infection during the first trimester of pregnancy was associated...

  5. Immune status parameters significance in pregnancy interruption on type of missed abortion in first trimester

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    Nagima Mamedaliyeva

    2012-10-01

    Full Text Available The paper explores the system immunity role of the first trimester missed abortion using the study of maintenance in populations and subpopulations of lymphocytes in the peripheral blood.Immune system disorders might cause self-regulation failure and immune response change. Recognition and removal of these disorders allow successful performing of implantation and increasing the probability for the pregnancy carriage. Survey of certain systemic immunity indicators dynamics and their contribution into the missed abortion progression, as well as development of early forecasting methods and prevention of such pregnancy complication aimed to reduce tissue-destroying responses towards a growing embryo and immunologic reactivity defects regeneration are of scientific and practical interest.

  6. Identification and Partial Purification of lnterferons from Human FirstTrimester Trophoblast Tissue

    Institute of Scientific and Technical Information of China (English)

    陶亚雄; 曹咏清

    1992-01-01

    Previous researeh demonstrated the presence of interferons with unusual moleeularweights and amigenicity in virus-infected amniotie membrane and in placental bloodat mid-term and term pregnaney. We reported here the identificution and partial purification of interferons from aeid extract of humen first trimester trophoblast tissue,Immunoreactive interferons, inchuling interferon-x and -β were detected with immunoelectrophoresis and enzyme-linked immunosorbent assays, By preparative is oelectrofocusing, preparative polyacrylamide get elcurophoresis and electroelution,one relatively pure protein with molecular weight of 43 kilodalton was found to have interferon x/β immunoreactivhy,the physiolo gical role(s)of these interferons in the maintenance of pregnancy remains to be defined.

  7. Vitamin D status in the first-trimester: effects of Vitamin D deficiency on pregnancy outcomes.

    Science.gov (United States)

    Ates, Seda; Sevket, Osman; Ozcan, Pinar; Ozkal, Fulya; Kaya, Mehmet Onur; Dane, Banu

    2016-03-01

    To assess serum levels of 25-hydroxyvitamin D [25(OH)D] in the first trimester and to determine the factors affecting deficiency levels and its association with pregnancy outcomes. Serum 25(OH)D concentrations were measured at 11-14 weeks' gestation in 229 singleton pregnancies using liquid chromatography-tandem mass spectrometry. The median serum 25(OH)D concentration was 10.8 ng/mL and 45.9% of women had severe vitamin D deficiency with concentrations of dress code, use of multi-vitamins and season at sampling. Low 25(OH)D levels were not related with adverse pregnancy outcomes. Women with severe vitamin D deficiency were more likely to deliver vaginally.

  8. First trimester maternal serum AFP and total hCG in aneuploidies other than trisomy 21.

    Science.gov (United States)

    Spencer, K; Heath, V; Flack, N; Ong, C; Nicolaides, K H

    2000-08-01

    Total human chorionic gonadotropin (hCG) and alpha-fetoprotein (AFP) were measured in maternal serum at 10-14 weeks of gestation from 53 pregnancies affected by trisomy 18, 42 cases with trisomy 13, 46 with Turner's syndrome and 13 with other sex aneuploides. The only significant association was the finding of reduced levels of total hCG in cases of trisomy 18 and 13. The association of increased levels of AFP in cases of trisomy 18 with ventral wall defects and the slight increase in AFP in cases of sex chromosomal anomalies other than Turner's syndrome was found. AFP and total hCG are not likely to replace the markers free beta-hCG and PAPP-A in first trimester screening for chromosomal anomalies. Copyright 2000 John Wiley & Sons, Ltd.

  9. Comparison of gemeprost and vaginal misoprostol in first trimester mifepristone-induced abortion

    DEFF Research Database (Denmark)

    Svendsen, Pernille Fog; Rørbye, Christina; Vejborg, Thomas;

    2005-01-01

    Abstract Background The aim of this study was to compare efficacy and side effects of gemeprost and vaginal misoprostol in mifepristone-induced abortions in women up to 63 days of gestation. Methods A retrospective study of 833 consecutive patients admitted for medical termination of first......, gemeprost and vaginal misoprostol are equally effective for termination of first trimester abortion, but may be associated with varying intensity of side effects........ The severity of bleeding and side effects (pain, nausea, vomiting and diarrhea) was scored by the patients, and requests for supplementary analgesic treatment were recorded by the attending nurse. Results Success rates were 99% in both groups after 2 weeks of follow-up. At 3 months of follow-up, success rates...

  10. Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of congenital anomalies

    DEFF Research Database (Denmark)

    Wemakor, A.; Casson, K.; Garne, E.

    2015-01-01

    Objective / Background The Selective Serotonin Reuptake Inhibitor (SSRI) antidepressants are widely prescribed in pregnancy, but there is evidence that they may cause congenital anomalies, particularly congenital heart defects (CHD). Objective: To determine the specificity of association between...... first trimester pregnancy exposure to individual SSRI and specific congenital anomalies (CAs). Methods Population-based case-malformed control study covering 3.3 million births from 12 EUROCAT registries 1995-2009. CAs included non-syndromic live births, fetal deaths and terminations of pregnancy...... % CI 1.67-6.75, n=9), and Ebstein's anomaly (OR 8.23, 95 % CI 2.91-23.28, n=4) were detected. Statistically significant associations between SSRI and four of the 15 non- CHDsignals (anorectal atresia and stenosis, gastroschisis, renal dysplasia, clubfoot) were found. In all the statistically...

  11. Using knowledge management to improve learning experience of first-trimester students

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    Nelson K. Y. Leung

    2015-06-01

    Full Text Available To address the lack of insights into the engagement of tertiary students to manage knowledge at a course level, a knowledge management approach is proposed to allow students to interact with lecturers inside and outside a large lecture hall to create, disseminate, use and evaluate knowledge. The proposed approach was applied to an undergraduate business computing related course conducted at the offshore campus of an Australian university in the third trimester of 2012. The proposed KM approach was evaluated using quantitative analysis. The findings show that the majority of the students agreed that the computerized tool (Facebook could enhance their learning experience by allowing students to ask for, share, discuss, and extend knowledge. In particular, the KM approach provided additional channels and platforms for the first-trimester students who were passive and preferred not to seek help from lecturers directly for cultural reasons.

  12. Observational cohort study of pregnancy outcome after first-trimester exposure to fluoroquinolones.

    Science.gov (United States)

    Padberg, Stephanie; Wacker, Evelin; Meister, Reinhard; Panse, Mary; Weber-Schoendorfer, Corinna; Oppermann, Marc; Schaefer, Christof

    2014-08-01

    Fluoroquinolones are avoided during pregnancy due to developmental toxicity in animals. The aim of this study was to assess the fetal risk after intrauterine fluoroquinolone exposure. We performed an observational study of a prospectively ascertained cohort of pregnant women exposed to a fluoroquinolone during the first trimester. Pregnancy outcomes were compared to those of a cohort exposed to neither fluoroquinolones nor teratogenic or fetotoxic drugs. The outcomes evaluated were major birth defects (structural abnormalities of medical, surgical, or cosmetic relevance), spontaneous abortion, and elective termination of pregnancy. Pregnancy outcomes of 949 women with fluoroquinolone treatment were compared with those of 3,796 nonexposed controls. Neither the rate of major birth defects (2.4%; adjusted odds ratio [OR(adj)], 0.91; 95% confidence interval [CI], 0.6 to 1.5) nor the risk of spontaneous abortion (adjusted hazard ratio [HR(adj)], 1.01; 95% CI, 0.8 to 1.3) was increased. However, there was a nonsignificant increase in major birth defects after exposure to moxifloxacin (6/93, 6.5%; crude odds ratio [OR(crude)], 2.40; 95% CI, 0.8 to 5.6). Neither a critical exposure time window within the first trimester nor a specific pattern of birth defects was demonstrated for any of the fluoroquinolones. The rate of electively terminated pregnancies was increased among the fluoroquinolone-exposed women (HR(adj), 1.32; 95% CI, 1.03 to 1.7). The gestational ages at delivery and birth weights did not differ between groups. Our study did not detect an increased risk of spontaneous abortion or major birth defects. These reassuring findings support the recommendation to allow fluoroquinolone use in early pregnancy in selected cases. After the use of moxifloxacin, a detailed fetal ultrasound examination should be considered. Copyright © 2014, American Society for Microbiology. All Rights Reserved.

  13. Association of Elevated first Trimester Serum Uric Acid Levels with Development of GDM.

    Science.gov (United States)

    C, Rasika; Samal, Sunita; Ghose, Seetesh

    2014-12-01

    Early intervention and appropriate treatment in patients with GDM will help in preventing the adverse maternal and fetal outcome and protect them from long term complications. Several studies have shown the association of hyperuricemia with GDM. This study was undertaken to find out the association of elevated first trimester uric acid with development of GDM. This prospective observational study was conducted in Mahatma Gandhi Medical Collage and Research Institute, Pondicherry, India, between November 2010 and May 2012. A total of 70 pregnant women were included and parameters like age, parity, BMI, history of DM, serum uric acid at <15 weeks and at 24 to 28 weeks and one step test at 24 to 28 weeks were noted and compared. There was no significant correlation between the demographic variables and GDM, but a moderate significance noted between the family history of DM and one step test (p=0.048). Though there is a proportional increase in the serum uric acid with increase in the BMI, it was not statistically significant. A significant correlation was seen between BMI and risk of development of GDM (p= 0.001). Though there is a significant correlation between serum uric acid at <15 weeks and at 24 to 28 weeks, serum uric acid at <15 weeks of gestation is a better predictor of GGI and GDM (Pearson's correlation = 0.735). There is increase in the risk of development of GDM with increased levels of serum uric acid in the first trimester. Uric acid levels at <15 weeks of gestation is more significantly associated with risk of development of GDM than it's levels at 24 to 28 weeks of gestation.

  14. Oxidative Stress Alters miRNA and Gene Expression Profiles in Villous First Trimester Trophoblasts

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    Courtney E. Cross

    2015-01-01

    Full Text Available The relationship between oxidative stress and miRNA changes in placenta as a potential mechanism involved in preeclampsia (PE is not fully elucidated. We investigated the impact of oxidative stress on miRNAs and mRNA expression profiles of genes associated with PE in villous 3A first trimester trophoblast cells exposed to H2O2 at 12 different concentrations (0-1 mM for 0.5, 4, 24, and 48 h. Cytotoxicity, determined using the SRB assay, was used to calculate the IC50 of H2O2. RNA was extracted after 4 h exposure to H2O2 for miRNA and gene expression profiling. H2O2 exerted a concentration- and time-dependent cytotoxicity on 3A trophoblast cells. Short-term exposure of 3A cells to low concentration of H2O2 (5% of IC50 significantly altered miRNA profile as evidenced by significant changes in 195 out of 595 evaluable miRNAs. Tool for annotations of microRNAs (TAM analysis indicated that these altered miRNAs fall into 43 clusters and 34 families, with 41 functions identified. Exposure to H2O2 altered mRNA expression of 22 out of 84 key genes involved in dysregulation of placental development. In conclusion, short-term exposure of villous first trimester trophoblasts to low concentrations of H2O2 significantly alters miRNA profile and expression of genes implicated in placental development.

  15. EFFICACY OF SINGLE DOSE OF VAGINAL MISOPROSTOL 800 μg IN FIRST TRIMESTER ABORTION.

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    Gopal

    2013-04-01

    Full Text Available ABSTRACT: OBJECTIVES : To know the efficacy and outcome of single dose o f vaginal Misoprostol 800Ug in first trimester abortion. MATERIAL AND METHODS : This study was conducted over a period of 3 yrs at Adichunchanagir i institute of medical sciences. A total of 200 pregnant women upto 12 wks of gestation wanting termi nation of pregnancy was recruited in this study. The efficacy, outcome, and induction ab ortion interval was studied in these cases. RESULTS: In our case study 76% of the patients had complete a bortion with single dose of 800ug Misoprostol and 4 % underwent check curettage due to profuse bleeding and retained products in uterus on USG. 20% of the cases needed s econd dose of 200ug of Misoprostol. The mean induction to abortion interval was 11.38hrs. 9 6% of the patients had complete abortion with medical method and only 4% underwent surgical curettage due to profuse bleeding after the single dose. The mean haemoglobin prior to induc tion was 9.76gm% and post expulsion was 9.59gm % respectively. No statistical difference was noted .The incidence of side effects like nausea, vomiting and diarrhoea was minimal and tran sitory. No major complications noted. CONCLUSION: Vaginal PGE 1 analogue is very safe and effective method of term ination of first trimester pregnancy. Single high dose of vaginal Mis oprostol 800ug is found to be cost -effective with minimal side effects, shorter Induction Aborti on interval and a day care procedure with good success rate and can be adopted at community an d primary health care units to reduce the maternal morbidity and mortality in developing count ries like India due to unwanted pregnancies and unsafe abortions

  16. First-trimester combined screening for trisomy 21 in a predominantly Chinese population.

    Science.gov (United States)

    Leung, T Y; Chan, L W; Leung, T N; Fung, T Y; Sahota, D S; Spencer, K; Lau, T K

    2007-01-01

    To examine the effectiveness of first-trimester fetal trisomy 21 screening using a combination of maternal age, nuchal translucency thickness (NT) and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) levels in a predominantly Chinese population in Hong Kong. This was a prospective study over a 1.5-year period of 2990 women who underwent combined screening for trisomy 21 between 11+0 and 13+6 weeks of gestation in a university fetal medicine unit. NT was measured according to the criteria set by The Fetal Medicine Foundation (FMF), maternal serum free beta-hCG and PAPP-A levels were measured, and the risk of trisomy 21 was calculated using The FMF's algorithm. Fetal karyotyping was advised when the risk was 1 : 300 or above. All subjects were followed up for pregnancy and fetal outcome. Of the 2990 women who underwent the screening program, 99% were Chinese. There were 57 twin pregnancies, giving a total of 3047 fetuses. Thirty-one percent of the women were 35 years old or above. One hundred and eighty-five (6.1%) fetuses were screen-positive; this included 14 cases of trisomy 21 and 17 cases of other chromosomal abnormalities. The positive predictive value was 16.7%. Among the 2862 screen-negative fetuses, only 18 (0.6%) cases had an unknown fetal outcome. There were no cases in which trisomy 21 was missed and the infant was liveborn. First-trimester combined screening for fetal trisomy 21 is highly effective among Chinese subjects. Copyright (c) 2006 ISUOG.

  17. High-frequency linear transducer improves detection of an intrauterine pregnancy in first-trimester ultrasonography.

    Science.gov (United States)

    Tabbut, Matthew; Harper, Devin; Gramer, Diane; Jones, Robert

    2016-02-01

    The objective was to determine if the need for transvaginal ultrasonographic examination can be decreased by the addition of the transabdominal high-frequency, 12-4-MHz linear transducer after a failed examination with the 6-2-mHz curvilinear transducer when evaluating for an intrauterine pregnancy (IUP). This is a prospective pilot study of women in their first trimester of pregnancy presenting to the emergency department with abdominal pain and/or vaginal bleeding. If no IUP was identified using the curvilinear transducer via the transabdominal approach, they were subsequently scanned using the linear transducer. Patients without evidence of an IUP transabdominally were scanned via the transvaginal approach. Eighty-one patients were evaluated; no IUP was visualized in 27 using the standard curvilinear transducer approach, and these then had an ultrasonography performed with the linear transducer. Of these, 9 patients (33.3%; 0.95 confidence interval [CO], 15.5%-51.1%) were found to have an IUP with the linear transducer. For the 18 patients who received a transvaginal scan, 15 patients (83.3%; 0.95 CI, 66.1%-100%) had no IUP identified with the transvaginal transducer, and 3 (16.7%; 0.95 CI, 0%-33.9%) had an IUP identified. The transabdominal use of a high-frequency linear transducer in the evaluation of patients in the first trimester after failed curvilinear transducer results in a clinically significant reduction in the need for transvaginal ultrasonography to confirm the presence of an IUP. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Ladies in waiting: the timeliness of first trimester services in New Zealand

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    Ashton Toni

    2010-07-01

    Full Text Available Abstract Background Termination of pregnancy (TOP services are a core service in New Zealand. However, compared to other developed countries, TOP services are accessed significantly later in the first trimester, increasing the risk for complications. The aim of this study is to examine the timeliness of access to first trimester TOP services and establish the length of delay between different points in the care pathway for these services. Methodology Data were collected from all patients attending nine TOP clinics around the country between February and May 2009 (N = 2950. Patient records were audited to determine the timeline between the first point of entry to the health system to the date of termination. In addition, women were invited to fill out a questionnaire to identify personal level factors affecting access to services (N = 1086, response rate = 36.8%. Results Women waited an average of almost 25 days between the date of the first visit with the referring doctor and the date of their termination procedure. There was a delay of 10 days between the first visit with the referring doctor and the date that the appointment for the procedure was booked, and a further 10 days delay between the date the appointment was booked and the first appointment date. Over half of the women in this study had their pregnancy terminated at ten weeks or above. Conclusion Women in New Zealand are subject to a lengthy delay while seeking TOP services. Efforts should be made by TOP clinics as well as referring doctors to reduce the waiting times for this service.

  19. Evaluating the culture of fetal erythroblasts from maternal blood for non-invasive prenatal diagnosis.

    Science.gov (United States)

    Chen, H; Griffin, D K; Jestice, K; Hackett, G; Cooper, J; Ferguson-Smith, M A

    1998-09-01

    Fetal erythroblasts circulating in maternal blood are important candidate cells for non-invasive prenatal diagnosis. We have cultured erythroblasts from 16 maternal blood samples, both with and without prior enrichment by magnetic activated cell sorting (MACS), in a semi-solid medium containing growth factors. Individual colonies were examined by PCR with sex chromosome-specific primers and microsatellite marker primers. No conclusive Y-chromosome specific amplification could be demonstrated in any of the 16 cases, even when the mother was confirmed to be carrying a male fetus. All colonies tested by microsatellite marker PCR were of maternal origin. Our results suggest that the probability of obtaining fetal colonies from fetal erythroblasts circulating in maternal blood is very low and that approaches for culturing fetal erythroblasts in vitro cannot yet be used reliably for prenatal diagnosis using current methods for fetal cell enrichment.

  20. [Prenatal diagnosis at 25 weeks gestation and neonatal management of a vallecular cyst].

    Science.gov (United States)

    Cuillier, F; Testud, R; Samperiz, S; Fossati, P

    2002-11-01

    Due to the anatomical location, vallecular cyst is a rare but well-recognized cause of upper airway obstruction and death in newborn. This cyst can be accurately diagnosed by echography in utero and by MR imaging. Prenatal diagnosis allows for early consultation with surgical specialist, so that the time and place of the delivery can be addressed for neonatal preoperative planning. We report the first prenatal diagnosis of a vallecular cyst at 25 weeks of gestation. At birth, the cyst was drained and then marsupialized. We believed that, in cases of oropharyngeal tumors discovered in utero, elective delivery should be realised in a tertiary referral center in which emergency ventilation and tracheostomy are possible.

  1. Noninvasive Prenatal Diagnosis of Fetal Sex by Single-cell PEP-PCR Method

    Institute of Scientific and Technical Information of China (English)

    王陶然; 陈汉平; 马庭元

    2004-01-01

    Summary: A new method for noninvasive prenatal diagnosis of fetal sex was developed by using single-cell PEP-PCR techniques. Micromamipulation techniques were used to obtain single fetal cells from 273 maternal blood samples. The genome of single cells was preamplified by PEP and SRY genes were analyzed by PCR method. The SRY genes of 149 samples were detected by the new method among 153 samples carrying male fetus, while 119 out of 120 samples carrying female fetus were proved negative for SRY genes. The sensitivity and specificity of the new method were 97.39% and 99.17 % respectively and the correct rate was 98.17 %. The new method has the advantage of high sensitivity and specificity in noninvasive prenatal diagnosis of fetal sex and provides the basis of other researches such as sex-linked inherited diseases.

  2. Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases.

    Science.gov (United States)

    Yapar, E G; Ekici, E; Dogan, M; Gökmen, O

    1996-10-01

    Meckel-Gruber syndrome is an autosomal recessive disorder which comprises a characteristic triad of major abnormalities: renal cystic dysplasia, occipital encephalocele, and postaxial polydactyly. Because of the recessive inheritance, prenatal sonographic diagnosis is paramount for informed genetic counselling of affected pregnancies. However, Meckel-Gruber syndrome may demonstrate variation in phenotypic expression when some malformations are different from those traditionally accepted and cases may be evaluated as a different syndrome. The aim of this paper is to emphasise the phenotypic variability in Meckel-Gruber syndrome, and the importance of the prenatal sonography in the diagnosis. We also suggest that Dandy-Walker malformation or Dandy-Walker variant be accepted as one of the malformations which occur in the central nervous system as a part of the syndrome.

  3. The Relationship between Prenatal Care, Personal Alcohol Abuse and Alcohol Abuse in the Home Environment

    Science.gov (United States)

    Grekin, Emily R.; Ondersma, Steven J.

    2009-01-01

    Aims: Nearly one-fourth of African-American women receive no prenatal care during the first trimester of pregnancy. The aim of the current study is to identify factors that underlie inadequate prenatal care among African-American women. Maternal alcohol abuse has been examined as one risk factor for inadequate prenatal care, but findings have been…

  4. The Relationship between Prenatal Care, Personal Alcohol Abuse and Alcohol Abuse in the Home Environment

    Science.gov (United States)

    Grekin, Emily R.; Ondersma, Steven J.

    2009-01-01

    Aims: Nearly one-fourth of African-American women receive no prenatal care during the first trimester of pregnancy. The aim of the current study is to identify factors that underlie inadequate prenatal care among African-American women. Maternal alcohol abuse has been examined as one risk factor for inadequate prenatal care, but findings have been…

  5. Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India.

    Science.gov (United States)

    Tamhankar, Parag M; Agarwal, Sarita; Arya, Vandana; Kumar, Ravindra; Gupta, U R; Agarwal, S S

    2009-01-01

    To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India. Premarital testing for thalassemia carrier state was carried out in (1) extended family members (EFM) of diagnosed cases of thalassemia/hemoglobinopathies, (2) unmarried adult cases of anemia attending the hospitals' outpatient department (OPD) and (3) adult college students (CG). Hemoglobin, red cell indices were measured by a cell counter and hemoglobin fractionation was carried out by high performance liquid chromatography (HPLC). In cases with HbA2>3.5%, or with variant hemoglobin, mutation screen was done by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). In high-risk prospective couples, premarital genetic counseling was done and prenatal diagnosis possibilities were explained. The yield of carriers from EFM, OPD and CG groups was 78.17% (308/394), 19.51% (263/1348) and 4.04% (38/939), respectively. The number of prospective high-risk couples detected were 154, 48 and 2 from EFM, OPD and CG, respectively. As much as 99% of prospective carrier couples married even after knowing their high-risk status and opted for prenatal diagnosis. The program averted the birth of 33 thalassemic children; 28 in EFM group (by screening of 394 individuals), 4 in the OPD group (by screening 1348 anemic patients), and 1 in CG group (by screening of 939 students). Premarital screening in extended family members, followed by prenatal diagnosis is acceptable and the most effective strategy for control of thalassemia in developing countries like India. Copyright (c) 2008 John Wiley & Sons, Ltd.

  6. [References for prenatal diagnosis of morphological defects including the central nervous system].

    Science.gov (United States)

    Blohmer, J U; Caemmerer, C D; Bollmann, R; Bartho, S

    1993-02-01

    Clinical and autopsy records of 209 stillborn and 81 miscarried infants with 484 congenital defects of the central nervous system were analysed. Sets of more than one defect were retrospectively classified by pathogenetic criteria as syndrome, sequence, association and midline defects. Pathogenetic thinking makes the prenatal diagnosis of further defects easier if one has already been diagnosed. Statements regarding the most probable localisation of neural tube defects have been made.

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

    Science.gov (United States)

    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.

  8. First trimester serum levels of the soluble transcobalamin receptor, holo-transcobalamin, and total transcobalamin in relation to preeclampsia risk.

    Science.gov (United States)

    Abuyaman, Omar; Torring, Niels; Obeid, Rima; Nexo, Ebba

    2016-12-01

    Human placenta expresses CD320, a receptor that ensures the uptake of holo-transcobalamin (holoTC). Soluble CD320 (sCD320) is present in the circulation and its concentration increases during pregnancy. To investigate a possible association of sCD320, holoTC and total transcobalamin (TC) with the risk of subsequent preeclampsia using serum samples from asymptomatic first trimester pregnant women. Moreover, we aimed to establish reference intervals of the aforementioned biomarkers for first trimester pregnant women who remained healthy throughout pregnancy. This study was a retrospective case-control study that we performed on biobank serum samples. Cases (n = 50) and controls (n = 198) (matched for gestational age and date of sample collection) were asymptomatic women in early pregnancy [median (range) gestational age = 10 (8-12) weeks]. Cases developed preeclampsia while the controls remained normotensive throughout pregnancy. We measured the serum concentration of sCD320, holoTC, and total TC by using in-house ELISA methods. First trimester median concentrations of sCD320, holoTC and total TC were not significantly different between cases and controls. The odd ratio for developing preeclampsia based on exposure to low or high levels of sCD320, holoTC or total TC at first trimester was not significant. The reference intervals (2.5-97.5% percentiles (median)) derived from the controls were 50-170 (90) pmol\\L for sCD320, 20-140 (70) pmol\\L for holoTC and 560-1300 (810) pmol\\L for total TC. The risk of preeclampsia is not predicted by first trimester serum concentrations of sCD320, holoTC or total TC. The first trimester reference intervals for the three parameters is reported.

  9. Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Background Methylmalonic aciduria (MMA )is the most frequent disease of organic aciduria in China.Various biochemical strategies are followed for the prenatal diagnosis of MMA.However,since fetuses affected by MMA have decreased excretion of methylmalonic acid,the difficulties of prenatal biochemical diagnosis are obvious.Gas chromatography mass spectrometry (GC/MS) and tandem mass spectrometry (ESI/MS/MS) have allowed us to identify the disease in affected fetuses.The aim of this study was to determine the value of analysis of organic acids and total homocysteine in amniotic fluid in prenatal diagnosis of MMA.Methods The clinical diagnoses and outcomes of nine probands with MMA and the prenatal diagnoses based on biochemical analysis of nine fetuses at risk for MMA were investigated.Amniotic fluid samples from pregnancies at risk for MMA and metabolically normal pregnancies were obtained at 16-24 weeks of gestation.Methylmalonic acid and methylcitric acid were measured by GC/MS,propionylcarnitine was analyzed by ESI/MS/MS,and total homocysteine was determined by fluorescence polarization immunoassay.Results In two pregnancies,high levels of methylmalonic acid,methylcitric acid,propionylcarnitine,and total homocysteine indicated combined MMA and homocysteinemia in the fetuses.One of the mothers continued pregnancy and received cobalamin supplement as prenatal treatment,and the other terminated her pregnancy.In one pregnancy,significantly elevated levels of methylmalonic acid,methylcitric acid,and propionylcarnitine,and normal level of total homocysteine was found indicating isolated MMA in the fetus;abortion was performed on this case.In the other six pregnancies,all the levels of the above mentioned metabolites were normal suggesting that the fetuses were not affected by MMA. The diagnoses were confirmed after delivery by testing urinary organic acids and plasma total homocysteine.Conclusions The metabolic abnormalities of MMA occur early in gestation.The level of

  10. Application of Molecular Cytogenetic Technique for Rapid Prenatal Diagnosis of Aneuploidies in Iranian Population

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    Habib Nasiri

    2009-06-01

    Full Text Available Objective: Classic cell culture and karyotyping is routinely used for prenatal detection of different chromosomal abnormalities. Molecular cytogenetic techniques have also recently been developed and used for this purpose. Quantitative florescence PCR using short tandem repeat (STR markers has more potential for high throughput diagnosis. Marker heterozygosity in short tandem repeats (STR is of critical importance in the clinical applicablity of this method. Materials and Methods: Different STR markers on chromosomes 13, 18, 21, X and Y  were analysed from  amniotic samples to detect related disorders such as Down, Edward, Patau,  Klinefelter sundromes , as well as sex chromosomes numerical abnormalities . Results: In our population some markers (D18S976, DXS6854, D21S11, and D21S1411 showed alleles with sizes out of expected ranges. But others occupied narrower range of predicted distribution. Most markers have enough heterozygosity (66.3-94.7 to be used for prenatal diagnosis. Furthermore, results obtained from full karyotype for all samples were in concordance with results of molecular cytogenetic testing. Conclusion: It is concluded that, in urgent situations, if proper markers used, molecular cytogenetic testing (QF-PCR could be a useful method for rapid prenatal diagnosis (PND in populations with high rate of consanguinity such as Iran.  

  11. Investigation of QF-PCR Application for Rapid Prenatal Diagnosis of Chromosomal Aneuploidies in Iranian Population

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    Jila Dastan

    2011-03-01

    Full Text Available Objective:G-Banding followed by standard chromosome analysis is routinely used for prenatal detection of chromosomal abnormalities. In recent years, molecular cytogenetic techniques have been developed for rapid diagnosis of chromosomal abnormalities. Among these methods Quantitative Florescence Polymerase Chain Reaction (QF-PCR has been widely used for this purpose. HHeterozygosity of short tandem repeat (STR markers which leads to informativity is the most critical requirement for feasibility of QF-PCR. Methods:In this study we analyzed several short tandem repeats on chromosomes 13, 18, 21, X and Y on amniotic fluid samples obtained from PND candidates to diagnose conditions such as Down, Edward and Patau syndromes and also numerical sex chromosome abnormalities such as Klinefelter and Turner syndromes. Findings:Most of the analyzed STRs had acceptable heterozygosity (66.3-94.7 to be used in QF-PCR based prenatal diagnosis. Moreover, results obtained from both methods (standard karyotype and QF-PCR for all samples were in accordance with each other. Conclusion:In case of using appropriate STR markers, and in certain clinical indications, QF-PCR could be used as useful technique for prenatal diagnosis even in consanguine populations such as Iranians.

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

    Science.gov (United States)

    Rodríguez Martín, Esteban

    2012-01-01

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

  13. Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis.

    Science.gov (United States)

    Xiao, H; Yang, Y L; Zhang, C Y; Liao, E J; Zhao, H R; Liao, S X

    2016-01-01

    We explored the strategies of prenatal diagnosis by foetal karyotype analysis in pregnant women with indications for genetic amniocentesis. Karyotype analysis of amniotic fluid was performed on 12365 pregnant women with indications for genetic amniocentesis. The detection rates and distributions of abnormal karyotypes were observed in a variety of indications for genetic amniocentesis. The detection rates of abnormal karyotype were 57.4% in either a mother or father with chromosomal abnormality, 8.5% in the pregnant women with pathological ultrasound finding (PUF), 2.79% in the pregnant women with advanced age (35 years and over) and 2.23% in the women with abnormal maternal serum screening (MSS) tests. Foetal abnormal karyotype was found in 86 pregnant women with PUF; of the 86 pregnant women, 42 had trisomy 13, 18 or 21. Of the 12365 pregnant women, foetal abnormal karyotype was found in 428 (3.46%); of the 428 foetuses, only 154 had trisomy 13, 18 or 21. In the pregnant women with abnormal MSS, 111 foetuses had abnormal karyotype, but only 36 foetuses had trisomy 13, 18 or 21. We conclude that (1) ultrasound is an important approach to prevent the birth of foetuses with chromosomal disease. (2) Non-invasive prenatal DNA detection cannot completely replace invasive prenatal diagnosis and MSS. (3) The strategies of prenatal diagnosis: Genetic amniocentesis is strongly recommended for the pregnant women with indications for genetic amniocentesis. For pregnant women who refuse invasive prenatal diagnosis, non-invasive prenatal DNA detection is first performed. If the results of non-invasive prenatal DNA detection are negative, the pregnant women are followed up by ultrasound; if the results of non-invasive prenatal DNA detection are positive, the pregnant women should undergo invasive prenatal diagnosis.

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

    Science.gov (United States)

    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.

  15. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

    Science.gov (United States)

    Tong, Yu K.; Yuen, Tony; Jiang, Peiyong; Pina, Christian; Chan, K. C. Allen; Khattab, Ahmed; Liao, Gary J. W.; Yau, Mabel; Kim, Se-Min; Chiu, Rossa W. K.; Sun, Li; Zaidi, Mone

    2014-01-01

    Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at approximately 14 weeks of gestation at the earliest. This means that mothers who want to undergo prenatal dexamethasone treatment will be unnecessarily treating seven of eight fetuses (males and three of four unaffected females), emphasizing the desirability of earlier genetic diagnosis in utero. Objective: The objective of the study was to develop a noninvasive method for early prenatal diagnosis of fetuses at risk for CAH. Patients: Fourteen families, each with a proband affected by phenotypically classical CAH, were recruited. Design: Cell-free fetal DNA was obtained from 3.6 mL of maternal plasma. Using hybridization probes designed to capture a 6-Mb region flanking CYP21A2, targeted massively parallel sequencing (MPS) was performed to analyze genomic DNA samples from parents and proband to determine parental haplotypes. Plasma DNA from pregnant mothers also underwent targeted MPS to deduce fetal inheritance of parental haplotypes. Results: In all 14 families, the fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation. Conclusions: MPS on 3.6 mL plasma from pregnant mothers could potentially provide the diagnosis of CAH, noninvasively, before the ninth week of gestation. Only affected female fetuses will thus be treated. Our strategy represents a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders. PMID:24606108

  16. Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction

    Energy Technology Data Exchange (ETDEWEB)

    Miyazaki, Osamu [National Centre for Child Health and Development, Department of Radiology, Tokyo (Japan); Nishimura, Gen [Tokyo Metropolitan Kiyose Children' s Hospital, Department of Radiology, Tokyo (Japan); Sago, Haruhiko; Watanabe, Noriyoshi; Ebina, Shunsuke [National Centre for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Tokyo (Japan)

    2007-11-15

    We report a case of chondrodysplasia punctata tibia-metacarpal type (CDP-TM) that was diagnosed prenatally using multidetector CT (MDCT) with three-dimensional (3-D) CT reconstructions. Prenatal US had shown severe thoracic hypoplasia and rhizomelic shortening of the limbs, raising the suspicion of thanatophoric dysplasia. However, MDCT showed punctate calcifications in the epiphyseal cartilage of the humeri and femora, carpal bones, and paravertebral region. On 3-D CT, the tibiae were much shorter than the fibulae, the humeri were very short and bowed, and severe platyspondyly was evident. These findings led to the diagnosis of CDP-TM. The diagnosis was confirmed on postnatal radiographs. Prenatal MDCT with 3-D images may make a useful contribution to prenatal diagnosis in selected fetuses with severe skeletal dysplasia. (orig.)

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

    Science.gov (United States)

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

    2013-01-01

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

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

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    Shan Dan

    Full Text Available 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.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.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 to be used to facilitate the prenatal diagnosis

  19. Challenges in the prenatal and post-natal diagnosis of mediastinal cystic hygroma: a case report

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    Nazir Sarfraz

    2008-08-01

    Full Text Available Abstract Introduction Cystic hygroma is a benign congenital neoplasm that mostly presents as a soft-tissue mass in the posterior triangle of the neck. Pure mediastinal lesions are uncommon; the vast majority are asymptomatic and are an incidental finding in adulthood. The diagnosis is often made intra- or postoperatively. Prenatal identification is exceptional and post-natal diagnosis also proves challenging. Case presentation We report one such case that was mistaken for other entities in both the prenatal and immediate post-natal period. Initial and follow-up antenatal ultrasound scans demonstrated a multicystic lesion in the left chest, and the mother was counselled about the possibility of her baby having a congenital diaphragmatic hernia. Initial post-natal chest radiographs were reported as normal. An echocardiogram and thoracic computed tomography scan confirmed a complex multiloculated cystic mediastinal mass. The working diagnoses were of a mediastinal teratoma or congenital cystic adenomatous malformation. At operation, the lesion was compressed by the left lung and was found to be close to the left phrenic nerve, which was carefully identified and preserved. After excision, histopathological examination of the mass confirmed the diagnosis of cystic hygroma. Postoperative dyspnoea was observed secondary to paradoxical movement of the left hemidiaphragm and probable left phrenic neuropraxia. This settled conservatively with excellent recovery. Conclusion Despite the fact that isolated intrathoracic cystic hygroma is a rare entity, it needs to be considered in the differential diagnosis of foetal and neonatal mediastinal masses, particularly for juxtadiaphragmatic lesions. The phrenic nerve is not identifiable on prenatal ultrasound imaging, and it is therefore understandable that a mass close to the diaphragm may be mistaken for a congenital diaphragmatic hernia because of the location, morphology and potential phrenic nerve compression

  20. Doula support during first trimester surgical abortion: A randomized controlled trial

    Science.gov (United States)

    Chor, Julie; Hill, Brandon; Martins, Summer; Mistretta, Stephanie; Patel, Ashlesha; Gilliam, Melissa

    2014-01-01

    Objectives To evaluate the impact of doula support on first trimester abortion care. Study Design Women were randomized to receive doula support or routine care during first trimester surgical abortion. We examined the effect of doula support on pain during abortion using a 100-mm visual analog scale. The study had statistical power to detect 20% difference in mean pain scores. Secondary measures included satisfaction, procedure duration, and patient recommendations regarding doula support. Results Two hundred and fourteen women completed the study: 106 received doula support, 108 received routine care. The groups did not differ regarding demographics, gestational age, or medical history. Pain scores in the doula and control groups did not differ at speculum insertion (38.6mm [±26.3mm] vs. 43.6mm [±25.9mm], p=0.18) or procedure completion (68.2mm [±28.0mm] vs. 70.6mm [±23.5mm], p=0.52). Procedure duration (3.39min [±2.83min] vs. 3.18min [±2.36min], p=0.55) and patient satisfaction (75.2mm [±28.6mm] vs. 74.6mm [±27.4mm], p=0.89) did not differ between doula and control groups. Among women who received doula support, 96.2% recommended routine doula support for abortion and 60.4% indicated interest in training as doulas. Among women who did not receive doula support, 71.6% of women would have wanted it. Additional clinical staff was needed to provide support for 2.9% of women in the doula group and 14.7% of controls (p<0.01). Conclusions Although doula support did not have a measurable effect on pain or satisfaction, women overwhelmingly recommended it for routine care. Women receiving doula support were less likely to require additional clinic support resources. Doula support, therefore, may address patient psychosocial needs. PMID:24983679

  1. Noise exposure during the first trimester and the risk of gestational diabetes mellitus

    Science.gov (United States)

    Min, Kyoung-Bok; Min, Jin-Young

    2017-07-01

    Gestational diabetes mellitus (GDM) is a form of diabetes that affects pregnant women. GDM tends to resolve after delivery, but has an impact on the health of the mother and her offspring. Considering the potential association between noise and diabetes and the susceptibility of the pregnant state to diabetogenesis, noise pollution may be associated with the risk of GDM; however, there is no evidence of the effect of noise pollution on GDM. In this study, we investigated the association between residential exposure to noise during the first trimester and incidence of GDM using the National Health Insurance Service-National Sample Cohort (NHIS-NSC), a representative sample of South Koreans. We analyzed the National Health Insurance Service-National Sample Cohort (2002-2013), a population-wide health insurance claim data. Study population was a total of 18 165 pregnant women. GDM was defined as ICD-10 code O244, and noise exposure levels were categorized as daytime (07:00-19:00) and nighttime (23:00-7:00). Other known risk factors for GDM were age, income, residential area, physical activity, smoking, drinking, blood sugar levels, and body mass index before getting pregnant. The study population included 18 165 pregnant women, of which 8.8% developed gestational diabetes. After adjustment, the adjusted OR (95% CI) for GDM associated with 1 dB increase in nighttime noise was 1.07 (95% CI: 1.05-1.10). Compared with the reference group (Quartile 1), the adjusted ORs for GDM in those exposed to the highest quartile of noise exposure (Quartile 4) was 1.61 (95% CI: 1.38-1.87) at nighttime noise. However, no significant association was observed between daytime noise exposure (07:00-19:00) and the incidence of GDM. We observed that the odds of gestational diabetes during the first trimester was 1.6 times higher for pregnant women exposed to elevated nighttime noise compared to similar women exposed to normal baseline noise levels in South Korea. Although this finding

  2. Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13.

    Science.gov (United States)

    Santorum, M; Wright, D; Syngelaki, A; Karagioti, N; Nicolaides, K H

    2017-06-01

    To examine the diagnostic accuracy of a previously developed model for the first-trimester combined test in screening for trisomies 21, 18 and 13. This was a prospective validation study of screening for trisomies 21, 18 and 13 by assessment of a combination of maternal age, fetal nuchal translucency, fetal heart rate and serum free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11 + 0 to 13 + 6 weeks' gestation in 108 982 singleton pregnancies undergoing routine care in three maternity hospitals. A previously published algorithm was used to calculate patient-specific risks for trisomy 21, 18 and 13 in each patient. The detection rate (DR) and false-positive rate (FPR) at estimated risk cut-offs from 1 in 2 to 1 in 1000 were determined. The proportions of trisomies detected were compared to their expected values in different risk groups. In the study population, there were 108 112 (99.2%) cases with normal fetal karyotype or birth of a phenotypically normal neonate and 870 (0.8%) cases with abnormal karyotype, including trisomy 21 (n = 432), trisomy 18 (n = 166), trisomy 13 (n = 56), monosomy X (n = 63), triploidy (n = 35) or other aneuploidy (n = 118). The screen-positive rates, standardized according to the maternal age distribution in England and Wales in 2011, of fetuses with abnormal or normal karyotype were compatible with those predicted from the previous model; at a risk cut-off of 1 in 100, the FPR was about 4% and the DRs for trisomies 21, 18 and 13 were 90%, 97% and 92%, respectively. There was evidence that the algorithm overestimated risk. This could, to some degree, reflect under-ascertainment in pregnancies ending in miscarriage or stillbirth. In a prospective validation study, the first-trimester combined test detected 90%, 97% and 92% of trisomies 21, 18 and 13, respectively, as well as > 95% of cases of monosomy X and triploidies and > 50% of other

  3. First-trimester combined screening for trisomy 21 at 7-14 weeks' gestation.

    Science.gov (United States)

    Wright, D; Spencer, K; Kagan K, K; Tørring, N; Petersen, O B; Christou, A; Kallikas, J; Nicolaides, K H

    2010-10-01

    To establish an algorithm for first-trimester combined screening for trisomy 21 with biochemical testing from 7 to 14 weeks' gestation and ultrasound testing at 11-13 weeks. This was a multicenter study of 886 pregnancies with trisomy 21 and 222 475 unaffected pregnancies with measurements of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 7-14 weeks' gestation. Multiple regression modeling of log-transformed marker values was used to produce log multiples of the median (MoM) values for PAPP-A and free β-hCG. The models included terms for the center attended and the machine used for biochemical analysis, gestational age, maternal racial origin, maternal weight, smoking status and method of conception. Bivariate Gaussian distributions were fitted to log MoM PAPP-A and log MoM free β-hCG in trisomy 21 and in unaffected pregnancies. In each case the patient-specific risk for trisomy 21 was estimated by multiplying the individual maternal age-related risk with the likelihood ratio (LR) for fetal nuchal translucency (NT) according to the mixture model and the combined LR for maternal serum free β-hCG and PAPP-A. Estimates of detection rates for trisomy 21 and false-positive rates were calculated for combined screening with measurements of NT at 12 weeks together with measurements of free β-hCG and PAPP-A from 8 to 13 weeks. In trisomy 21 pregnancies the mean log MoM free β-hCG increased linearly with gestation between 7 and 14 weeks, whereas the relation between log MoM PAPP-A and gestation was fitted by a quadratic equation such that the maximum separation between trisomy 21 and unaffected pregnancies occurs at 9-10 weeks. At a false-positive rate of 3% the detection rate of combined screening at 12 weeks was 86% and this increased to 90% by biochemical testing at 9 weeks and ultrasound scanning at 12 weeks. The detection rate increased to 92% by measuring PAPP-A at 9 weeks and free β-hCG at the time of the scan

  4. Cytogenetic Prenatal Diagnosis in the Province of Cienfuegos between 2007 and 2010

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    Pedro Alí Díaz-Véliz Jiménez

    2012-11-01

    Full Text Available Background: cytogenetic prenatal diagnosis is nowadays part of the care provided in developed countries to high-risk pregnant women and is an indispensable component of preventive genetic programs driven by the World Health Organization. Objective: To present the results of cytogenetic prenatal diagnosis in the province of Cienfuegos. Methods: A chronological series study was developed at the Provincial Center of Medical Genetics of Cienfuegos on all cytogenetic prenatal diagnoses that were performed between 2007 and 2010. We analyzed causes of study, number of diagnoses and types of anomalies detected. Results: during the period analyzed, 1172 amniocentesis of pregnant patients were processed and 1076 of them were diagnosed for 91, 81 % efficiency. 85,5 % of the cases studied were women over 37 years old. 32 chromosomal abnormalities were detected. The order of frequency of chromosomal abnormalities among the positive cases was: numerical aberrations (65, 63 %, structural aberrations (18, 75 % and mosaics (15,63 %. The most common chromosomal abnormality was Down syndrome with 46,88 % of total aberrations detected. Conclusions: the indicators analyzed behave similarly to those reported in literature both from our country or international.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  7. CONCANAVALIN-A VARIANTS OF ALPHA-FETOPROTEIN IN FIRST TRIMESTER FETUSES WITH TRISOMY-21 AND WITH NORMAL KARYOTYPES

    NARCIS (Netherlands)

    LOS, FJ; JANSE, HC; BRANDENBURG, H; DEVRIJ, RW; DEBRUIJN, HWA

    1995-01-01

    Total alpha-fetoprotein (AFP) concentrations and proportions of AFP non-reactive with the lectin concanavalin A (Con A) were studied in extracellular fluid of 22 first-trimester fetuses. Total AFP concentrations were significantly lower in fetuses with Down's syndrome than in those with Mendelian-in

  8. Biological variation of free β chorionic gonadotropin and pregnancy-associated plasma protein A in first trimester pregnancies

    DEFF Research Database (Denmark)

    Sennels, Henriette P; Jørgensen, Finn Stener; Sørensen, Steen

    2011-01-01

    Abstract Background: Trisomy 21 risk estimation in first trimester pregnancies can be performed by a combined test based on ultrasound measurement of fetal nuchal translucency thickness and maternal plasma concentrations of free ß human chorionic gonadotropin (hCGß) and pregnancy-associated plasma...

  9. Biological variation of free β chorionic gonadotropin and pregnancy-associated plasma protein A in first trimester pregnancies

    DEFF Research Database (Denmark)

    Sennels, Henriette P; Jørgensen, Finn Stener; Sørensen, Steen

    2011-01-01

    Abstract Background: Trisomy 21 risk estimation in first trimester pregnancies can be performed by a combined test based on ultrasound measurement of fetal nuchal translucency thickness and maternal plasma concentrations of free β human chorionic gonadotropin (hCGβ) and pregnancy-associated plasma...

  10. Maternal Serum Resistin Is Reduced in First Trimester Preeclampsia Pregnancies and Is a Marker of Clinical Severity

    DEFF Research Database (Denmark)

    Christiansen, Michael; Hedley, Paula L; Placing, Sophie;

    2015-01-01

    OBJECTIVE: To examine whether resistin levels in first trimester maternal serum are associated with insulin resistance or preeclampsia (PE). METHODS: A case-control study of maternal serum resistin concentration conducted using 285 normal pregnancies and 123 PE pregnancies matched for gestational...

  11. ADAM 12 may be used to reduce the false positive rate of first trimester combined screening for Down syndrome

    DEFF Research Database (Denmark)

    Christiansen, Michael; Pihl, Kasper; Hedley, Paula L.

    2010-01-01

    BACKGROUND: ADAM12 has been shown to be an efficient maternal serum marker for Down syndrome (DS) in the first trimester; but recent studies, using a second generation assay, have not confirmed these findings. We examined the efficiency of a second generation assay for ADAM12. MATERIALS AND METHODS...

  12. Risk of Fetal Loss Associated With Invasive Testing Following Combined First-Trimester Screening for Down Syndrome

    DEFF Research Database (Denmark)

    Wulff, C. B.; Gerds, T. A.; Rode, L.

    2016-01-01

    from being based on maternal age to combined first-trimester screening (cFTS) for trisomy 21. The aim of the study was to assess prospectively the risk of fetal loss associated with CVS and AC after cFTS for Down syndrome. A nationwide population-based study (Danish Fetal Medicine Database, 2008...

  13. First-trimester maternal serum human thyroid-stimulating hormone in chromosomally normal and Down syndrome pregnancies

    NARCIS (Netherlands)

    Pratt, JJ; de Wolf, BTHM; Mantingh, A

    2001-01-01

    Maternal serum human thyroid-stimulating hormone (TSH) levels were investigated in chromosomally normal and Down syndrome pregnancies to determine whether TSH can be used as a marker for Down syndrome in the first trimester. Measurements were conducted on stored serum samples collected from 23 Down

  14. Vasculogenesis and angiogenesis in the first trimester human placenta: An innovative 3D study using an immersive Virtual Reality system

    NARCIS (Netherlands)

    R.H.F. van Oppenraaij; A.H.J. Koning; B.A. Lisman; K. Boer; M.J.B. van den Hoff; P.J. van der Spek; E.A.P. Steegers; N. Exalto

    2009-01-01

    First trimester human villous vascularization is mainly studied by conventional two-dimensional (2D) microscopy. With this (2D) technique it is not possible to observe the spatial arrangement of the haemangioblastic cords and vessels, transition of cords into vessels and the transition of vasculogen

  15. COMPARATIVE STUDY OF THE EFFICACY OF MIFEPRISTONE WITH VAGINAL MISOPROSTOL AND VAGINAL MISOPROSTOL ALONE FOR FIRST TRIMESTER ABORTION

    Directory of Open Access Journals (Sweden)

    Hemalatha Kulandai Raj

    2016-08-01

    Full Text Available OBJECTIVES To assess the efficacy of mifepristone with misoprostol combination in first trimester abortion. To compare this combination with vaginal misoprostol alone for the first trimester MTP. To compare the various parameters involved in MTP in both the methods and assess the most suitable method for first trimester MTP. METHODS An interventional prospective study conducted in the Department of Obstetrics and Gynaecology at Government Thoothukudi Medical College, Thoothukudi, during 2013-2015. During this study, 125 patients who attended the family planning clinic requesting first trimester termination of pregnancy were selected based on the inclusion, exclusion criteria. Out of 125 patients, 100 were randomly assigned to vaginal misoprostol group and 25 to mifepristone with misoprostol group. The study was approved by the hospital ethical committee. RESULTS On analysing both the methods had less induction abortion interval, but 93% of abortions occurred within 4 hours of administration in mifepristone and vaginal misoprostol. CONCLUSION Thus, the combined regimen has more rate of complete abortion with less induction abortion interval than when misoprostol alone was used

  16. Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex.

    Science.gov (United States)

    Schmid, O; Trautmann, U; Ashour, H; Ulmer, R; Pfeiffer, R A; Beinder, E

    2000-12-01

    The presence of a monozygotic twin gestation with discordant sex of the twins is a very rare constellation, which is referred to as heterokaryotypic monozygotic pregnancy. This constellation can develop either due to a chromosomal aberration after twinning or is - as in the following case - due to a mitotic error before twinning and an unequal distribution of mosaicism in both embryos. So far the diagnosis of heterokaryotypic monozygotic pregnancy has always been made postnatally, with only one exception (Gonsoulin et al., 1990). In this case we suspected the presence of monozygotic twins ultrasonically because of the chorionic and amniotic membrane characteristics. Surprisingly the sex of the fetuses was discrepant. As one of them had hydrops and a structural heart defect, we carried out an amniocentesis, which revealed mosaicism [45,X/46,X,i(Y)(p10)] of both fetuses. The female fetus with a predominant 45,X set of chromosomes and the typical intrauterine signs of the Ullrich-Turner syndrome (massive hygroma colli, hydrops fetalis and multiple cardiac defects) died during the 25th week of gestation due to cardiac decompensation. The other fetus appeared to be male with a predominance of a 46,X,i(Y)(p10) set of chromosomes and was born a few days after the intrauterine death of the hydropic fetus. In conclusion, our observation shows that ultrasonic evidence of discordant fetal sex in twins does not necessarily exclude monozygosity. Copyright 2000 John Wiley & Sons, Ltd.

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

    Science.gov (United States)

    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

  18. Prenatal diagnosis of a de novo inversion of chromosome (2)(p21q11).

    Science.gov (United States)

    Hengstschläger, M; Mittermayer, C; Prusa, A R; Drahonsky, R; Repa, C; Deutinger, J; Bernaschek, G

    2003-08-01

    Prenatal diagnosis of "apparently balanced" chromosomal rearrangements, if not inherited from a parent, are problematic for genetic counsellors and families. Although the parents need to be informed about the increased risk of multiple congenital anomalies, the anomalies that the fetus is at risk can not be discussed unless a similar breakpoint and accompanying phenotype have been reported in the literature. In the reported case prenatal ultrasound examination revealed a massive hydrocephalus internus and IUGR. The karyotype of the fetus was inv(2)(p21q11) de novo. Postmortem examination revealed short palpebral fissures, hypertelorism, atypical nasiolabial configuration, microgenia, extended position of the fingers, atypical proximal inserted first toe, hydrocephalus internus, hypoplasia of the cerebellum and bulbi olfactorii, bilateral hypoplastic lungs, atrial septal defect II, small right ventricle, dysplasia of the pulmonary valve, hypoplastic pulmonary artery, right proximal ureterostenosis, hypoplastic gall bladder. This is the first description of a de novo inversion (2)(p21q11) in a fetus with multiple malformations.

  19. Prenatal diagnosis of fetal hemivertebra at 20 weeks’ gestation with literature review

    Directory of Open Access Journals (Sweden)

    Michail Varras

    2010-07-01

    Full Text Available Michail Varras1, Christodoulos Akrivis21Obstetrics and Gynecology Department, “Elena Venizelou” General Maternity Hospital, Athens; 2Obstetrics and Gynecology Department, “G Chatzikosta” General State Hospital, Ioannina, GreeceAbstract: Hemivertebra is a rare congenital spinal malformation, where only one side of the vertebral body develops, resulting in deformation of the spine, such as scoliosis, lordosis, or kyphosis. We present the ultrasonographic features of a fetus with hemivertebra at 20 weeks’ gestation confirmed by post mortem radiography and pathological examination. The prenatal literature on this disorder is also reviewed. Useful background information is provided for both clinicians and other health professionals who are not familiar with this condition.Keywords: hemivertebra, congenital scoliosis, prenatal diagnosis, ultrasonography

  20. Prenatal diagnosis of the acute meconium peritonitis secondary to ileum volvulus perforation: a case report.

    Science.gov (United States)

    Keskin, Uğur; Karasahin, Kazım Emre; Ozturk, Mustafa; Atabek, Cüneyt; Demirbağ, Suzi; Ergün, Ali

    2015-02-01

    This is an unusual case in comparison to other sonographically described prenatal cases due to very early diagnosis and surgical intervention following prompt delivery. A 40-year-old pregnant, ultrasonography showed presence of cystic structure in the fetal abdomen that was consistent with intestinal dilatation. At 32 weeks' of gestation, repeat ultrasound showed collapse of the bowel dilatation along with the presence of hyperechogenic fluid in the fetal abdominal cavity. Cesarean section was performed. The clinical utility of this report is the recognition that meconium peritonitis (MP) may be diagnosed in the acute phase with typical ultrasound features, and should be considered in the differential diagnoses of cases presented with reduced fetal movements. Although it appears that morbidity and mortality in MP cases depend upon gestational age, this case report may help to manage similar cases for defining the appropriate delivery time and treatment modality after prenatal identification of the problem.

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

    Energy Technology Data Exchange (ETDEWEB)

    Breysem, L.; Bosmans, H.; Dymarkowski, S.; Demaerel, P.; Vanbeckevoort, D.; Smet, M. [Department of Radiology, University Hospitals, Herestraat 49, 3000, Leuven (Belgium); Schoubroeck, D.Van; Witters, I.; Deprest, J. [Department of Obstetrics and Gynecology, University Hospitals, Herestraat 49, 3000, Leuven (Belgium); Vanhole, C.; Casaer, P. [Department of Pediatrics, University Hospitals, Herestraat 49, 3000, Leuven (Belgium)

    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. (orig.)

  2. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Rubio, Eva I.; Blask, Anna; Bulas, Dorothy I. [Children' s National Health System, Department of Radiology, Washington, DC (United States)

    2016-05-15

    Craniosynostosis syndromes are uncommonly encountered in the prenatal period. Identification is challenging but important for family counseling and perinatal management. This series examines prenatal findings in craniosynostosis syndromes, comparing the complementary roles of US and MRI and emphasizing clues easily missed in the second trimester. Six prenatal cases evaluated from 2002 through 2011 were retrospectively reviewed. Referral history, gestational age, and sonographic and MRI findings were reviewed by three pediatric radiologists. Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. The diagnosis was Apert syndrome in three, Pfeiffer syndrome in two and Carpenter syndrome in one. The gestational age at evaluation ranged from 21 to 33 weeks. All six were evaluated by MRI and US, with two undergoing repeat evaluation in the third trimester, yielding a total of eight MRIs and US exams. The referral history suggested cloverleaf skull in two cases but did not suggest craniosynostosis syndrome in any case. In four, the referral suggested central nervous system (CNS) findings that were not confirmed by MRI; additional CNS findings were discovered in the remaining two. In four cases, developing turricephaly resulted in a characteristic ''lampshade'' contour of the fetal head. Hypertelorism and proptosis were present in five, with proptosis better appreciated by MRI. Digit abnormalities were present in all, seen equally well by MRI and US. Lung abnormalities in the second trimester in one fetus resolved by the third trimester. Prenatal diagnosis of craniosynostosis syndromes is difficult prior to the third trimester. MRI and US have complementary roles in evaluation of these patients. (orig.)

  3. Impact on spina bifida screening of shifting prenatal Down syndrome maternal serum screening from the second trimester to the first.

    Science.gov (United States)

    Spaggiari, Emmanuel; Dreux, Sophie; Stirnemann, Julien J; Czerkiewicz, Isabelle; Houfflin-Debarge, Véronique; Segonne, Alexandra; Jouannic, Jean-Marie; Ville, Yves; Muller, Francoise

    2017-07-01

    Shifting screening for trisomy 21 to the first trimester has resulted in the loss of maternal serum alpha-fetoprotein screening for spina bifida. The aim of this study was to study the impact on open spina bifida prenatal screening. We reviewed prenatally diagnosed cases of spina bifida over three years: 2009 (only second-trimester screening, MSM2T), 2010 (transient period) and 2011 (majority first-trimester screening, MSM1T). Cases were assigned to three groups based on maternal serum markers (MSM2T, MSM1T and 'not performed'). Gestational age at diagnosis of spina bifida was compared between these three groups and between the years 2009 and 2011. Median gestational ages at diagnosis of the 742 spina bifida cases between the three groups were 22 weeks [18(+6) -23], 22(+1)  weeks [21(+3) -23] and 21(+4)  weeks [14(+1) -23], respectively (P Spina bifida diagnosis at 14-20 weeks declined from 38.8% in 2009 to 13.3% in 2011 (P spina bifida and resulted in a decrease of 25% of cases of spina bifida detected before 20 weeks. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  4. What Is Trophoblast? A Combination of Criteria Define Human First-Trimester Trophoblast

    Directory of Open Access Journals (Sweden)

    Cheryl Q.E. Lee

    2016-02-01

    Full Text Available Controversy surrounds reports describing the derivation of human trophoblast cells from placentas and embryonic stem cells (ESC, partly due to the difficulty in identifying markers that define cells as belonging to the trophoblast lineage. We have selected criteria that are characteristic of primary first-trimester trophoblast: a set of protein markers, HLA class I profile, methylation of ELF5, and expression of microRNAs (miRNAs from the chromosome 19 miRNA cluster (C19MC. We tested these criteria on cells previously reported to show some phenotypic characteristics of trophoblast: bone morphogenetic protein (BMP-treated human ESC and 2102Ep, an embryonal carcinoma cell line. Both cell types only show some, but not all, of the four trophoblast criteria. Thus, BMP-treated human ESC have not fully differentiated to trophoblast. Our study identifies a robust panel, including both protein and non-protein-coding markers that, in combination, can be used to reliably define cells as characteristic of early trophoblast.

  5. ADAM12: a novel first-trimester maternal serum marker for Down syndrome

    DEFF Research Database (Denmark)

    Laigaard, Jennie; Sørensen, Tina; Fröhlich, Camilla

    2003-01-01

    /L at week 8 of pregnancy to 670 micro g/L at 16 weeks, and reached 12 000 micro g/L at term. In 18 first-trimester Down syndrome pregnancies, the concentration of ADAM12 was decreased, thus the median multiple of mean (MoM) value was 0.14 (0.01-0.76). A detection rate for foetal Down syndrome of 82...... levels decrease markedly during pregnancy. ADAM12 (A disintegrin and metalloprotease) is an IGFBP-3 and IGFBP-5 protease and is present in human pregnancy serum. The goal of this study was to determine whether ADAM12 concentration in maternal serum is a useful indicator of foetal health. METHODS: We......OBJECTIVES: The concentration of bioavailable insulin-like growth factor (IGF) I and II is important to foetal growth. It is regulated by insulin-like growth factor binding proteins (IGFBP) 1 through 6. Proteolytic cleavage of IGFBP-3 takes place in human pregnancy serum; accordingly, IGFBP-3 serum...

  6. The First Trimester Gravid Serum Regulates Procalcitonin Expression in Human Macrophages Skewing Their Phenotype In Vitro

    Directory of Open Access Journals (Sweden)

    Damiano Rami

    2014-01-01

    Full Text Available Procalcitonin (PCT is one of the best diagnostic and prognostic markers in clinical practice, widely used to evaluate the evolution of bacterial infections. Although it is mainly produced by thyroid, during sepsis almost all the peripheral tissues are involved in PCT production. Parenchymal cells have been suggested as the main source of PCT expression; however the contribution of macrophages is not clear yet. In response to environmental cues, tissue macrophages acquire distinct functional phenotypes, ranging from proinflammatory (M1 to anti-inflammatory (M2 phenotype. Macrophages at the fetal-maternal interface show immunosuppressive M2-like activities required for the maintenance of immunological homeostasis during pregnancy. This study aims to clarify the ability to synthesise PCT of fully differentiated (M0, polarized (M1/M2 macrophages and those cultured either in the presence of first trimester gravid serum (GS or pregnancy hormones. We found out that M1 macrophages upregulate PCT expression following LPS stimulation compared to M0 and M2. The GS downregulates PCT expression in macrophages, skewing them towards an M2-like phenotype. This effect seems only partially mediated by the hormonal milieu. Our findings strengthen the key role of macrophages in counteracting inflammatory stimuli during pregnancy, suggesting PCT as a possible new marker of M1-like macrophages.

  7. The first trimester gravid serum regulates procalcitonin expression in human macrophages skewing their phenotype in vitro.

    Science.gov (United States)

    Rami, Damiano; La Bianca, Martina; Agostinis, Chiara; Zauli, Giorgio; Radillo, Oriano; Bulla, Roberta

    2014-01-01

    Procalcitonin (PCT) is one of the best diagnostic and prognostic markers in clinical practice, widely used to evaluate the evolution of bacterial infections. Although it is mainly produced by thyroid, during sepsis almost all the peripheral tissues are involved in PCT production. Parenchymal cells have been suggested as the main source of PCT expression; however the contribution of macrophages is not clear yet. In response to environmental cues, tissue macrophages acquire distinct functional phenotypes, ranging from proinflammatory (M1) to anti-inflammatory (M2) phenotype. Macrophages at the fetal-maternal interface show immunosuppressive M2-like activities required for the maintenance of immunological homeostasis during pregnancy. This study aims to clarify the ability to synthesise PCT of fully differentiated (M0), polarized (M1/M2) macrophages and those cultured either in the presence of first trimester gravid serum (GS) or pregnancy hormones. We found out that M1 macrophages upregulate PCT expression following LPS stimulation compared to M0 and M2. The GS downregulates PCT expression in macrophages, skewing them towards an M2-like phenotype. This effect seems only partially mediated by the hormonal milieu. Our findings strengthen the key role of macrophages in counteracting inflammatory stimuli during pregnancy, suggesting PCT as a possible new marker of M1-like macrophages.

  8. A Case of Idiopathic Acute Pancreatitis in the First Trimester of Pregnancy

    Directory of Open Access Journals (Sweden)

    Tomomi Hara

    2015-01-01

    Full Text Available Acute pancreatitis is rare in pregnancy, with an estimated incidence of approximately 1 in 1000 to 1 in 10,000 pregnancies. Acute pancreatitis in pregnancy usually occurs in the third trimester. Here, we report a case of acute pancreatitis in the first trimester. A 36-year-old primigravida at 11 weeks of gestation complained of severe lower abdominal pain. The pain gradually worsened and migrated toward the epigastric region. She had no history of chronic alcoholism. Blood investigations showed elevated level of C-reactive protein (9.58 mg/dL, pancreatic amylase (170 IU/L, and lipase (332 IU/L. There was no gallstone and no abnormality in the pancreatic and biliary ducts on ultrasonography. Antinuclear antibody and IgG4 were negative and no evidence of hyperlipidemia or diabetes was found. There was also no evidence of viral infection. On the third day of hospitalization, she was diagnosed with severe acute pancreatitis on magnetic resonance imaging. Medical interventions were initiated with nafamostat mesilate and ulinastatin, and parenteral nutrition was administered through a central venous catheter. On the eighth day of hospitalization, her condition gradually improved with a decreased level of pancreatic amylase and the pain subsided. After conservative management, she did not have any recurrence during her pregnancy.

  9. [Microbiological screening and postoperative course in patients undergoing first trimester abortion].

    Science.gov (United States)

    La Rosa, R; Ricci, M G; Oliveti, C; Giovani, M; Lapucci, T; Morgante, G; Danero, S; Alegente, G

    1985-01-01

    Pelvic infections are a serious and widespread gynecological disease, often leading to sterility. Procedures like evacuation of the products of conception by vacuum suction are known to facilitate their appearance. 300 patients were examined the same day of the abortion (first trimester); before the hysterosuction a vaginal tampon was taken from the cervix and from the posterior fornix. The patients were invited to come back for an exam in two weeks and to refer to the clinic for any problem before then. A wet mount, aerobic and anaerobic cultures in several media and Gram stains were used to identify the pathogens. 40.3% of the tampons were positive for pathogens, mostly staphilococci (52%), but also Candida, alfa and beta hemolytic Streptococci, Proteus, E. Coli, Trichomonas. 5 patients had serious complications that required hospital admission. Only 128 patients showed up for the postoperative control; of these, 14 presented with symptoms of pelvic infection. Since pelvic infections are the most frequent complication after induced abortion, and considering the larege number of women who carry vaginal pathogens, the Authors strongly recommend a guided antibiotic profilaxis before the hysterosuction operation.

  10. Towards Early Biochemical screening for Fetal Aneupliody in the First Trimester

    DEFF Research Database (Denmark)

    Tørring, Niels

    2011-01-01

    , the detection rate of trisomy 21 was 96% (99 out of 103), whereas 86% were detected (50 out of 60) after 10th week (Chi square = 0.03). For trisomy 18 and trisomy 13, 26 out of 32 (81%) were detected before 10th gestational week, and 9 out of 13 (69%) after the 10th gestational week (N.S). Conclusions......: Screening for fetal aneuploidy can be performed with good results with the blood sample taken as early as the 7th week of gestation. Taking the blood sample before the 10th gestational week showed a high detection rate of fetal trisomy 21, with no difference in the detection of fetal trisomy 18, 13...... trimester screening and the blood sample taken between 7 weeks + 5 days to 13 weeks + 6 days from November 2003 to March 2011. Results: 159 out of 173 cases of trisomy 21 were diagnosed in the first trimester screening (detection rate 92%). When the blood sample was taken before the 10th gestational week...

  11. First-Trimester Serum Acylcarnitine Levels to Predict Preeclampsia: A Metabolomics Approach

    Directory of Open Access Journals (Sweden)

    Maria P. H. Koster

    2015-01-01

    Full Text Available Objective. To expand the search for preeclampsia (PE metabolomics biomarkers through the analysis of acylcarnitines in first-trimester maternal serum. Methods. This was a nested case-control study using serum from pregnant women, drawn between 8 and 14 weeks of gestational age. Metabolites were measured using an UPLC-MS/MS based method. Concentrations were compared between controls (n=500 and early-onset- (EO- PE (n=68 or late-onset- (LO- PE (n=99 women. Metabolites with a false discovery rate <10% for both EO-PE and LO-PE were selected and added to prediction models based on maternal characteristics (MC, mean arterial pressure (MAP, and previously established biomarkers (PAPPA, PLGF, and taurine. Results. Twelve metabolites were significantly different between EO-PE women and controls, with effect levels between −18% and 29%. For LO-PE, 11 metabolites were significantly different with effect sizes between −8% and 24%. Nine metabolites were significantly different for both comparisons. The best prediction model for EO-PE consisted of MC, MAP, PAPPA, PLGF, taurine, and stearoylcarnitine (AUC = 0.784. The best prediction model for LO-PE consisted of MC, MAP, PAPPA, PLGF, and stearoylcarnitine (AUC = 0.700. Conclusion. This study identified stearoylcarnitine as a novel metabolomics biomarker for EO-PE and LO-PE. Nevertheless, metabolomics-based assays for predicting PE are not yet suitable for clinical implementation.

  12. Cervical dilatation in late first trimester termination by prostaglandin, hylase and isogel.

    Science.gov (United States)

    Mandlekar, A V; Ganguli, A C; Krishna, U R; Purandare, V N

    1981-04-01

    Pre-operative dilatation of the cervix was attempted in 223 cases prior to vacuum aspiration in patients seeking late first trimester termination beyond ten weeks. 15 Me PGF2a was used in the form of vaginal suppositories, intramuscular and intracervical injections. Dilatation of cervix of 10 mm or more was achieved within 4 hours in 86% cases with intra-cervical injections. Gastro-intestinal disturbances caused by intra-muscular injections could be avoided by intra-cervical injections, as the amount of prostaglandin required was only 100 ugm, but the success rate was significantly lower. The success with multiple dose suppositories was 80%. There was no significant difference in the success with 1.5 mgm or 1.0 mgm dosage, but the side effects were significantly higher with 1.5 mgm suppositories. Intra-cervical Hylase did not dilate the cervix but successfully softened it within 5 minutes to make metallic dilatation simple. The hygroscopic Isogel tents achieved dilatation of 10 mm or more in 73% of the patients in 12 hours. The tents as well as intra-cervical prostaglandin injection had the disadvantage of requiring an additional theatre procedure prior to suction curettage.

  13. The role of cytokines in first trimester pregnancy losses with fetal chromosomal anomaly.

    Science.gov (United States)

    Kasap, Esin; Karaarslan, Serap; Gene, Mine; Gur, Esra B; Sahin, Nur; Guclu, Serkan

    2015-11-01

    The contribution of local inflammation to the pathophysiology of abnormal choromosomally miscarriages remains unclear The objective of this study was to investigate the inflammatory response at the maternofetal interface of women presenting with first trimester miscarriage with abnormal choromosomally Level of TNF-α , IL-6 ve IL-17 were asseyed using immunohistochemistry technique at decidual and placental bed biopsy samples from 23 women with elective termination of pregnancy 21 euploid and 18 aneuploid missed miscarriages. Immunostainig for TNF-α, IL-6 ve IL-17 has been evaluated semi-quantitatively by 'quickscore' method. We found that the intensity of TNF-α staining was high in the miscarriage group, and this has been found in previous studies. Unlike some previous studies, the intensity of IL-6 staining was higher in the miscarriage groups only in decidual glandular epithelium. The intensity of IL-6 staining was found to be higher in the miscarriage group with chromosome anomaly than in the miscarriage group without chromosome anomaly. There was no significant difference in IL-17 levels between any of the groups. Cytokines are considered to play an important role in the maintenance of pregnancy but the exact mechanism between them and the mutual regulation relationship were not been fully understood, which need our further study.

  14. [Hyperemesis gravidarum: a rare but potentially severe complication of the first trimester of pregnancy].

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    Macle, Lucie; Varlet, Marie-Noëlle; Cathébras, Pascal

    2010-06-20

    Although nausea and vomiting are common symptoms in early pregnancy, hyperemesis gravidarum (HG) is a rare complication of the first trimester of pregnancy. This condition is defined as intractable vomiting occurring before 20 weeks of gestation, with fluid and electrolyte disturbance, significant weight loss, and ketonuria, leading to hospitalization in the absence of other cause than pregnancy. Some biological disturbances found in HG, such as hyperthyroidism and hepatic cytolysis, which are correlated with the importance of vomiting, are without severe clinical consequences, but may represent diagnostic pitfalls. The aetiology is unknown, but human chorionic gonadotropin hormones likely play the first role. Psychological disturbance is currently seen as the result of the burden and stress of HG rather than a causal factor. Maternal outcome may be severe in the absence of treatment, but pregnancy outcome seems good, as far as the condition has been adequately controlled. The management of HG includes IV rehydration, thiamine supplementation, antiemetic drugs (doxylamine, metoclopramide and chlorpromazine being the first-line choices), and in severe cases, nasogastric or parenteral nutrition. A psychological support is often necessary.

  15. Changes in heart rate variability and QT variability during the first trimester of pregnancy.

    Science.gov (United States)

    Carpenter, R E; D'Silva, L A; Emery, S J; Uzun, O; Rassi, D; Lewis, M J

    2015-03-01

    The risk of new-onset arrhythmia during pregnancy is high, presumably relating to changes in both haemodynamic and cardiac autonomic function. The ability to non-invasively assess an individual's risk of developing arrhythmia during pregnancy would therefore be clinically significant. We aimed to quantify electrocardiographic temporal characteristics during the first trimester of pregnancy and to compare these with non-pregnant controls. Ninety-nine pregnant women and sixty-three non-pregnant women underwent non-invasive cardiovascular and haemodynamic assessment during a protocol consisting of various physiological states (postural manoeurvres, light exercise and metronomic breathing). Variables measured included stroke volume, cardiac output, heart rate, heart rate variability, QT and QT variability and QTVI (a measure of the variability of QT relative to that of RR). Heart rate (p variability (p heart rate variability was reduced in pregnancy in all states (p heart rate variability, reflecting a reduction in parasympathetic tone and an increase in sympathetic activity. QTVI shifted to a less favourable value, reflecting a greater than normal amount of QT variability. QTVI appears to be a useful method for quantifying changes in QT variability relative to RR (or heart rate) variability, being sensitive not only to physiological state but also to gestational age. We support the use of non-invasive markers of cardiac electrical variability to evaluate the risk of arrhythmic events in pregnancy, and we recommend the use of multiple physiological states during the assessment protocol.

  16. Detection of fetal mutations causing hemoglobinopathies by non-invasive prenatal diagnosis from maternal plasma

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    E D′Souza

    2013-01-01

    Full Text Available Background: Prenatal diagnosis of hemoglobinopathies enables couples at risk to have a healthy child. Currently used fetal sampling procedures are invasive with some risk of miscarriage. A non-invasive approach to obtain fetal deoxyribonucleic acid (DNA for diagnosis would eliminate this risk. Aim: To develop and evaluate a non-invasive prenatal diagnostic approach for hemoglobinopathies using cell-free fetal DNA circulating in the maternal plasma. Settings and Design: Couples referred to us for prenatal diagnosis of hemoglobinopathies where the maternal and paternal mutations were different were included in the study. Materials and Methods: Maternal peripheral blood was collected at different periods of gestation before the invasive fetal sampling procedure was done. The blood was centrifuged to isolate the plasma and prepare DNA. A size separation approach was used to isolate fetal DNA. Nested polymerase chain reaction (PCR-based protocols were developed for detection of the presence or absence of the paternal mutation. Results and Conclusions: There were 30 couples where the parental mutations were different. Of these, in 14 cases the paternal mutation was absent and in 16 cases it was present in the fetus. Using cell-free fetal DNA from maternal plasma, the absence of the paternal mutation was accurately determined in 12 of the 14 cases and the presence of the paternal mutation was correctly identified in 12 of the 16 cases. Thus, this non-invasive approach gave comparable results to those obtained by the conventional invasive fetal sampling methods in 24 cases giving an accuracy of 80.0%. Although the nested PCR approach enabled amplification of small quantities of cell-free DNA from maternal plasma at different periods of gestation after size separation to eliminate the more abundant maternal DNA, an accurate diagnosis of the presence or absence of the paternal mutation in the fetus was not possible in all cases to make it clinically

  17. Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes

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    Daniela Cardoso Pereira

    2013-01-01

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

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

    Science.gov (United States)

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

    2013-01-01

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

  19. Lower vitamin D levels at first trimester are associated with higher risk of developing gestational diabetes mellitus.

    Science.gov (United States)

    Lacroix, Marilyn; Battista, Marie-Claude; Doyon, Myriam; Houde, Ghislaine; Ménard, Julie; Ardilouze, Jean-Luc; Hivert, Marie-France; Perron, Patrice

    2014-08-01

    The progressive increase of insulin resistance observed in pregnancy contributes to the pathophysiology of gestational diabetes mellitus (GDM). There is controversy whether vitamin D deficiency contributes to abnormal glycemic regulation in pregnancy. We tested the associations between first trimester 25-hydroxyvitamin D (25OHD) levels and: 1) the risk of developing GDM; 2) insulin resistance/sensitivity, beta cell function and compensation indices in a large population-based prospective cohort of pregnant women. Participants (n = 655) were seen at first (6-13 weeks) and second (24-28 weeks) trimesters for blood samples. At first trimester, 25OHD levels were measured. At second trimester, glucose and insulin were measured 3 times during the oral glucose tolerance test to estimate insulin resistance (HOMA-IR), beta cell function (HOMA-B), insulin sensitivity (Matsuda index), insulin secretion (AUCins/gluc) and beta cell compensation (ISSI-2). Based on IADPSG criteria, 54 participants (8.2 %) developed GDM. Lower first trimester 25OHD levels were associated with higher risk of developing GDM even after adjustment for vitamin D confounding factors and GDM risk factors (OR = 1.48 per decrease of one SD in 25OHD levels; P = 0.04). Lower first trimester 25OHD levels were associated with higher HOMA-IR (r = - 0.08; P = 0.03), lower Matsuda index (r = 0.13; P = 0.001) and lower ISSI-2 (r = 0.08; P = 0.04). After adjustment for confounders, we found no significant association with HOMA-B and AUCins/gluc. Our results suggest that low levels of 25OHD at first trimester are (1) an independent risk factor for developing GDM and (2) associated with insulin resistance at second trimester.

  20. 孕妇外周血中游离胎儿DNA检测在无创产前诊断中的临床应用%Clinical application of noninvasive prenatal diagnosis using cell free fetal DNA in maternal plasma

    Institute of Scientific and Technical Information of China (English)

    侯巧芳; 吴东; 楚艳; 康冰; 廖世秀; 杨艳丽; 张朝阳; 张菊新; 吴刚

    2012-01-01

    Objective To investigate the clinical value of non-invasive prenatal diagnosis using cell free fetal DNA(cff-DNA)in maternal blood.Methods From Sep.2010 to Mar.2012,103 pregnant women who came to Henan Province People's Hospital in the first trimestcr for prenatal diagnosis of scx-linked inherited diseases were included in the first trimester group.From Oct.2010 to Jan.2012,205 pregnant women undergoing amniotic fluid sampling for fetal karyotype analysis in the same hospital were included in the second trimester group.Real time quantitative PCR and fluorescent PCR were used to detect sex determining region of Y chromosome gene(SRY)and amelogenin gene(AML)on cff-DNA of the first trimester group.Moreover,12 Y chromosome STR loci analysis were performed for 33 male fetuses and their fathers.Massively Parallel Signature Sequencing(MPSS)was used for aneuploidy analysis in cff-DNA of the second trimester group.Results(1)In the first trimester group,there were 53 SRY positive and 50 SRY negative.Compared with the results of cff-DNA of chorionic villus samples,there was one SRY false positive and one false negative results,with a sensitivity of 98% and specificity of 98%.For the AML gene test,there were two PCR products of male fetuses:102 bp fragment originating from X chromosome(AML X)and 108 bp fragment from Y chromosome(AML Y);but only AML X was found in products from female fetuses.In the first trimester group,102 bp and 108 bp fragments were detected in 52 cases,and only 102 bp fragment was found in the other cases.Compared to AML results from chorionic villus samples,there were 2 false negative results,with a sensitivity of 96% and specificity of 100%.(2)For cff-DNA with plasma SRY over 30 copy/ml,Y STR loci were analyzed on cff-DNA of 33 fetuses and their fathers.The Y STR loci less then 200 bp were successfully detected,while Y STR loci with PCR products between 200-300 bp showed low signal or could not be amplicated;and no PCR products more than 300 bp

  1. Is ultrasound alone enough for prenatal screening of trisomy 18? A single centre experience in 69 cases over 10 years.

    Science.gov (United States)

    Lai, S; Lau, W L; Leung, W C; Lai, F K; Chin, R

    2010-11-01

    To evaluate ultrasound scan and other prenatal screening tests for trisomy 18 in a regional obstetric unit and to review the management approach for women with positive trisomy 18 screening results. Prenatal diagnosis databases were accessed to identify fetuses that had confirmed trisomy 18 karyotypes or were at high risk for trisomy 18 on second-trimester biochemical screening or first-trimester combined screening tests over a period of 10 years from 1 September 1997 to 30 September 2007. Sixty-nine women were confirmed to have trisomy 18 fetuses by karyotyping either prenatally (n = 61) or postnatally/post-miscarriage (n = 8) during the study period. The detection rate of ultrasound scan ≤ 14 weeks and 18 to 21 weeks to detect trisomy 18 was 92.7 and 100%, respectively. A total of 80 and 87% of fetuses had two or more ultrasound abnormalities detected in the ≤ 14 weeks and 18 to 21 weeks anomaly scans, respectively. Forty-eight women screened positive for trisomy 18 by second-trimester biochemical screening with human chorionic gonadotrophin (hCG) and alpha fetoprotein (AFP). Only one was true positive (positive predictive value = 1/48 or 2%). Eleven women screened positive for trisomy 18 by first-trimester combined screening with nuchal translucency scan and maternal serum for pregnancy-associated plasma protein A (PAPP-A) and hCG between 11 and 13 + 6 weeks. Three were true positive (positive predictive value = 3/11 or 27%). All four cases with positive screening had ultrasound abnormalities. Ultrasound scan for fetal anomalies is the most effective screening test for trisomy 18. A policy of conservative management for women with positive second-trimester biochemical screening or first-trimester combined screening for trisomy 18 is reasonable in the absence of ultrasound fetal abnormalities. Unnecessary invasive tests can be avoided.

  2. 胶原酶消化绒毛组织培养技术在产前诊断中的应用%The application of collagenase digestion for chorionic villus cell culture in prenatal diagnosis

    Institute of Scientific and Technical Information of China (English)

    刘天盛; 周元圆; 韦波; 费冬梅; 黄红倩; 欧珊; 郑陈光

    2013-01-01

    目的 探索建立一种稳定且培养成功率高,操作简便的产前绒毛染色体制备的方法,提高绒毛产前诊断的成功率.方法 181例进行产前诊断的绒毛组织分两组,采用胶原酶分别消化10min和15min,制备绒毛细胞悬液进行细胞培养、染色体核型分析.结果 181例绒毛组织培养成功179例,失败2例,培养成功率为98.90%,平均培养时间为10-12天;消化15min比消化10min细胞更容易贴壁,原代培养成功率更高.179例培养成功的绒毛组织检出异常核型14例,其中镶嵌型5例,检出染色体多态性15例.结论 采用胶原酶消化绒毛组织,可以提高细胞培养成功率,提高孕早期产前诊断的成功率,适合各级有条件的医疗保健机构推广应用.%Objective: To establish a method of prenatal chorionic villus samples chromosome preparation which is stable, higher success rate and easier to prepare, enhance the success rate of villus prenatal diagnosis. Methods; 181 cases of chorionic villus samples were divided into two groups, digested by collagense for 10 minutes and 15 minutes respectively, and the resulting individual cell suspension were used to establish primary cultures for cytogenetic analysis. Results; 179 of 181 cases were cultured successful and 2 of 181 cases failed. Culture success rate was 98. 9% , the average of culture time was 10 -12 days. Collagenase digestion for 15 minutes was superior to 10 minutes in adherent cultures, the success rate of primary culture was higher. 14 cases of chromosomes aberration and 15 cases of chromosome polymorphism were detected in 179 cases of successful culture, and 5 cases chromosome mosaicism of 14 cases chromosomes aberration. Conclusion; The application of collagenase digestion for the chorionic villus tissue could improve success rate of the chorionic villus cell culture and prenatal diagnosis in the first trimester, it was worth to be extend.

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

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    Bhawna Satija

    2015-01-01

    Full Text Available 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

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

    Science.gov (United States)

    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

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

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

    2010-02-01

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

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

    Science.gov (United States)

    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.

  7. Prenatal diagnosis of a fetus with ring chromosomal 15 by two- and three-dimensional ultrasonography.

    Science.gov (United States)

    Britto, Ingrid Schwach Werneck; Regina Silva Herbest, Sandra; Tedesco, Giselle Darahem; Drummond, Carolina Leite; Bussamra, Luiz Claudio Silva; Araujo Júnior, Edward; Ruano, Rodrigo; Ruano, Simone Hernandez; Aldrighi, José Mendes

    2014-01-01

    We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430 g infant (less than third percentile) was born at 36 weeks. The infant presented with respiratory failure and died at 2 h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2.

  8. Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplications.

    Science.gov (United States)

    Tong, H; Jin, Y; Xu, Y; Zou, B; Ye, H; Wu, H; Kumar, S; Pitman, J L; Zhou, G; Song, Q

    2016-11-01

    Chromosomal aberration mostly occurs in chromosomes 21, 18 and 13, with an incidence approximately 1 out of 160 live births in humans, therefore making prenatal diagnosis necessary in clinics. Current methods have drawbacks such as time consuming, high cost, complicated operations and low sensitivity. In this paper, a novel method for rapid and accurate prenatal diagnosis of aneuploidy is proposed based on pyrosequencing, which quantitatively detects the peak height ratio (PHR) of different bases of segmental duplication. A direct polymerase chain reaction (PCR) approach was undertaken, where a small volume of amniotic fluid was used as the starting material without DNA extraction. Single-stranded DNA was prepared from PCR products and subsequently analyzed using pyrosequencing. The PHR between target and reference chromosome of 2.2 for euploid and 3:2 for a trisomy fetus were used as reference. The reference intervals and z scores were calculated for discrimination of aneuploidy. A total of 132 samples were collected, within trisomy 21 (n = 11), trisomy 18 (n = 3), trisomy 13 (n = 2), and unaffected controls (n = 116). A set of six segmental duplications were chosen for analysis. This method had consistent results with karyotyping analysis, a correct diagnosis with 100% sensitivity and 99.9% specificity. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  9. Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

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    Yanuarita Tursinawati

    2015-08-01

    Full Text Available Backgound Invasive prenatal diagnosis (PND through amniocentesis and chorionic villus sampling (CVS can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome. Methods A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21 questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015. Conclusions Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

  10. Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

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    Yanuarita Tursinawati

    2015-12-01

    Full Text Available Backgound Invasive prenatal diagnosis (PND through amniocentesis and chorionic villus sampling (CVS can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome. Methods A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21 questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015. Conclusions Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

  11. Prenatal cytogenic and ultrasonographic diagnosis of Patau´s Syndrome. Case report

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    Pedro Alí Díaz-Véliz Jiménez

    2016-10-01

    Full Text Available The cytogenetic diagnosis of trisomy 13th is infrequent. It may present as a free trisomy, translocation or in combination of both. Due to the need of counting on reports of this genetic disturbance, a case Patau´s syndrome is presented, detected by prenatal cytogenic and ultrasonographic diagnosis, in a 19 year-old pregnant woman with positive findings in ultrasound (increased nuchal translucency, prominence of facial mass and asymmetry of the four cardiac cavities. It was confirmed by specialists of the Provincial Center of medical genetic of Cienfuegos. It was proposed to perform a cytogenetic prenatal diagnosis which resulted in a female fetus with free trisomy of chromosome 13 (47, XX, +13. The woman was informed and it was decided to interrupt her pregnancy. The report of Pathologic anatomy informed of an orifice in the upper lip which continued to the upper part of the mouth due to the absence of hard palate (Cleft lip accompanied by cleft palate, polydactyly in the left hand (six fingers Congenital cardiopathy due to reduced aortic diameter and dextroposed, hypoplasia in the left cavities, basal media Intraventicular communicación with wide ductus and permeable, so as prominence in the facial mass.

  12. Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening.

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    Schaller, Jean; Moser, Hugo; Begleiter, Michael L; Edwards, Janice

    2007-01-01

    Families affected by adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were surveyed to elicit attitudes toward prenatal, presymptomatic and carrier testing, and newborn screening in order to determine the level of support that these families have for current and future genetic testing protocols. Identifying attitudes toward genetic testing, including newborn screening, is especially important because of new data regarding therapeutic options and the possible addition of ALD to newborn screening regimens. The Kennedy Krieger Institute (KKI) database identified 327 prospective participants. Families that were willing to participate in the study received an anonymous questionnaire for completion. Frequencies were generated using SPSS software for Windows. Questionnaires were returned from 128 families for a response rate of 39%. Sons who were at risk for inheriting the ALD gene would be tested by 93% of respondents, and 89.3% would ideally have this testing performed prenatally or in the newborn period. Eighty-nine percent would test an at-risk daughter and 51.2% would ideally have this testing performed prenatally or shortly after birth. ALD newborn screening for males and females was supported by 90% of respondents. If newborn screening for ALD/AMN commences, or there is a new diagnosis of ALD, genetic professionals need to be prepared to have extensive conversations with families regarding the benefits and limitations of current therapeutic and genetic testing options.

  13. Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa.

    Science.gov (United States)

    Wessagowit, V; Chunharas, A; Wattanasirichaigoon, D; McGrath, J A

    2007-11-01

    Globalization of economies and improvements in international telecommunications has led to increased demand for better access to the latest developments in healthcare, wherever they may be available. In this report, we describe the first case from Thailand of DNA-based prenatal testing of a mother at risk for recurrence of severe recessive dystrophic epidermolysis bullosa (RDEB), whose affected child had died in early childhood. In the absence of previous access to prenatal diagnostic tests, the mother had undergone several terminations for fear of having another affected child. To prevent this happening again, DNA from the mother and her consanguineous partner was sent from Bangkok to a specialist laboratory at St John's Institute of Dermatology in London and screened for pathogenic mutations in the COL7A1 gene: both individuals were shown to be heterozygous carriers of a splice-site mutation, c.2440G --> C. In a subsequent pregnancy, amniocentesis was performed at 18 weeks' gestation in Bangkok, and fetal DNA was extracted and sent to London for analysis. Restriction endonuclease digestion of the amplified fetal DNA revealed the wild-type COL7A1 sequence only, and 5 months later, a clinically unaffected boy was born. This case represents the first example of DNA-based prenatal diagnosis for RDEB in Thailand and illustrates the benefits for patients in establishing international links with diagnostic centres with technological expertise that is not widely available in certain countries.

  14. Prenatal Diagnosis and Outcome of Fetuses with Double-Inlet Left Ventricle

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    Monisha Gidvani

    2011-12-01

    Full Text Available The aim of this study is to characterize the in utero presentation of the subtype of double-inlet left ventricle (DILV, a rare congenital heart disease, and assess the postnatal outcome. We retrospectively studied fetuses diagnosed prenatally with DILV between 2007 and 2011. We reviewed the prenatal and postnatal echocardiograms, clinical presentations, karyotypes, and the postnatal outcomes. There were eight fetuses diagnosed with DILV with L-transposition of the great vessels (S, L, L. Mean gestational age at diagnosis was 24.7 weeks. Of these, four fetuses (50% had pulmonary atresia. One fetus (12.5% also had tricuspid atresia and coarctation of the aorta and died at 17 months of age. Complete heart block and long QT syndrome was present in one fetus (12.5%, who died shortly after birth. There were no extracardiac or karyotypic abnormalities. Six (75% infants are alive and doing well. Double-inlet left ventricle with varied presentation can be accurately diagnosed prenatally. The outcome of fetuses is good in the absence of associated rhythm abnormalities with surgically staged procedures leading to a Fontan circulation.

  15. Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

    Directory of Open Access Journals (Sweden)

    Srebniak Malgorzata I

    2012-03-01

    Full Text Available Abstract Background We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical practice. Findings/results From May 2009 till June 2011 we performed HumanCytoSNP-12 array (HCS (http://www.Illumina.com analysis in 207 cases of foetal structural abnormalities. HCS allows detecting unbalanced genomic abnormalities with a resolution of about 150/200 kb. All cases were selected by a clinical geneticist after excluding the most common aneuploidies by RAD (rapid aneuploidy detection. Pre-test genetic counselling was offered in all cases. In 24/207 (11,6% foetuses a clinically relevant genetic abnormality was detected. Only 8/24 abnormalities would have been detected if only routine karyotyping was performed. Submicroscopic abnormalities were found in 16/207 (7,7% cases. The array results were achieved within 1-2 weeks after amniocentesis. Conclusions Prenatal SNP array testing is faster than karyotyping and allows detecting much smaller aberrations (~0.15 Mb in addition to the microscopic unbalanced chromosome abnormalities detectable with karyotyping (~ > 5 Mb. Since karyotyping would have missed 66% (16/24 of genomic abnormalities in our cohort, we propose to perform genomic high resolution array testing assisted by pre-test counselling as a primary prenatal diagnostic test in cases of foetal ultrasound abnormalities.

  16. Prenatal Diagnosis of a Congenital Postaxial Longitudinal Limb Defect: A Case Report

    Science.gov (United States)

    Pauleta, Joana; Melo, Maria Antonieta; Graça, Luís Mendes

    2010-01-01

    Introduction. Although congenital longitudinal fibular deficiency is one of the most common long bone deficiencies, there are few published cases of its prenatal diagnosis. Case report. A right longitudinal deficiency of the fibula associated with tibial shortening, foot equinovalgus, and absence of the fourth and fifth foot rays diagnosed at 22 weeks gestation is described. Sequential ultrasonographic surveillance was performed without obstetric complications. The anomaly was confirmed after birth, and conservative orthopaedic management was decided. Conclusion. Though rarely seen, postaxial longitudinal limb defect may be detected by ultrasound. The correct approach can only be decided after birth, when the functional impact of the anomaly can be fully evaluated. PMID:20592750

  17. Prenatal diagnosis of fetal aortopulmonary septal defect with ventricular septal defect by two-dimension echocardiography

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    @@ Fetal aortopulmonary septal defect (APSD) is an extremely rare condition, accounting for 0.1%-0.2% of all cardiac defects in live births world wide.1 Hospital mortality is 13% and 33% for simple and complex APSD, respectively.2 This rare cardiac defect refers to a congenital malformation in the development of the arteriosus truncus septum, and is usually associated with a wide variety of other structural cardiac anomalies such as ventricular septal defect (VSD), pulmonary valve stegnosis and so on.3 Prenatal diagnosis of an APSD is possible by echocardiography.

  18. Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique.

    Science.gov (United States)

    Piotrowski, Krzysztof; Halec, Wojciech; Wegrzynowski, Jerzy; Pietrzyk, Aleksandra; Henkelman, Małgorzata; Zajaczek, Stanisław

    2014-01-01

    Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on Beads method at 32 weeks of gestation. To the best of our knowledge, prenatal recognition of that genetic defect had previously been made in only one case. Also, it has never been described before.

  19. First-trimester detection of surface abnormalities: A comparison of 2- and 3-dimensional ultrasound and 3-dimensional virtual reality ultrasound

    NARCIS (Netherlands)

    L. Baken (Leonie); M. Rousian (Melek); A.H.J. Koning (Anton); G.J. Bonsel (Gouke); A.J. Eggink (Alex); J.M.J. Cornette (Jérôme); E.M. Schoonderwaldt (Ernst); M. Husen-Ebbinge (Margreet); K. Teunissen (Katinka); P.J. van der Spek (Peter); E.A.P. Steegers (Eric); N. Exalto (Niek)

    2014-01-01

    textabstractThe aim was to determine the diagnostic performance of 3-dimensional virtual reality ultrasound (3D-VR-US) and conventional 2- and 3-dimensional ultrasound (2D/3D-US) for first-trimester detection of structural abnormalities. Forty-eight first trimester cases (gold standard available, 22

  20. Overweight increases risk of first trimester hypothyroxinaemia in iodine-deficient pregnant women.

    Science.gov (United States)

    Gowachirapant, Sueppong; Melse-Boonstra, Alida; Winichagoon, Pattanee; Zimmermann, Michael B

    2014-01-01

    Hypothyroxinaemia early in pregnancy may impair fetal brain development. Increased body weight has been associated with low thyroxine concentrations in non-pregnant women. In pregnant women, morbid maternal obesity is a risk factor for thyroid dysfunction. But whether lesser degrees of overweight that are much more common could be a risk factor for hypothyroxinaemia in pregnancy is unclear. The objective of this study was to investigate if overweight increases risk for thyroid dysfunction, and specifically hypothyroxinaemia, in iodine-deficient pregnant women. We performed a cross-sectional study at first hospital visit among healthy Thai pregnant women. We measured weight and height, urinary iodine concentration (UIC), serum thyroid hormones and thyroglobulin. Pre-pregnancy weight and relevant dietary factors were determined by questionnaire, and body mass index (BMI) was used to classify weight status. Among 514 women (mean gestational age, 11 weeks) with a median UIC of 111 μg dL(-1) , indicating mild iodine deficiency, 12% had low free thyroxine (fT4) concentrations: 3% had overt hypothyroidism; 7% had subclinical hypothyroidism; and 8% had isolated hypothyroxinaemia. Based on pre-pregnancy BMI, 26% of women were overweight or obese. In a multiple regression model, BMI was a negative predictor of fT4 (β = -0.20, P Iodine-deficient pregnant Thai women who are overweight have a 3.6-fold higher risk of hypothyroxinaemia in the first trimester compared to normal weight women. Targeted screening should consider overweight a potential risk factor for thyroid dysfunction in pregnant women in iodine-deficient areas. © 2013 John Wiley & Sons Ltd.

  1. First trimester intact hCG as an early marker of trisomy 21: a promise unrecognised?

    Science.gov (United States)

    Spencer, Kevin; Cowans, Nicholas J; Uldbjerg, Niels; Vereecken, Annie; Tørring, Niels

    2008-12-01

    An initial study of trisomy 21 cases showed that prior to 10 weeks, maternal serum levels of intact hCG in the early first trimester are lower than normal. Here we further study the levels prior to and after 10 weeks of gestation to further establish whether or not the intact hCG is effective as a very early screening marker. Fifty-nine samples from pregnancies with trisomy 21 were identified, 31 were collected between the sixth and ninth weeks of gestation and 28 after the tenth week. A series of 629 gestational age-matched samples collected during the same period formed the control group. Intact hCG was measured by a DELFIA assay. The multiples of the median (MoM) in cases (n = 31) collected prior to 10 weeks were 0.79 (CI 0.62-0.98) at a median gestation of 9.1 weeks. Prior to 9 weeks (n = 14) the median was 0.774 (CI 0.54-1.09) at a median gestation of 8.5 weeks. Modelling the detection rate for a 3 or 5% false-positive rate when screening using intact hCG, free beta-hCG and PAPP-A at 8-10 weeks of gestation indicated that 71 or 77% of cases would be detected. More data are needed to establish a secure MoM for intact hCG in pregnancies prior to 10 weeks, before it could be considered a suitable screening marker. Copyright (c) 2008 John Wiley & Sons, Ltd.

  2. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening.

    Science.gov (United States)

    Nicolaides, K H; Spencer, K; Avgidou, K; Faiola, S; Falcon, O

    2005-03-01

    To evaluate the performance of first-trimester screening for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). In addition, the potential impact of a new individual risk-orientated two-stage approach to first-trimester screening was examined. First-trimester combined screening for trisomy 21 was carried out in 75 821 singleton pregnancies with live fetuses at 11 + 0 to 13 + 6 gestational weeks. The detection and false-positive rates for different risk cut-offs were calculated. To examine the potential impact of an individual risk-orientated two-stage approach to first-trimester screening it was assumed that, after first-trimester combined screening, chorionic villus sampling (CVS) would be performed in all patients with a risk estimate of 1 in 100 or more and in none of those with a risk estimate of less than 1 in 1000. Those in the intermediate-risk category, with a risk estimate of between 1 in 101 and 1 in 1000, would have further assessment of risk by first-trimester ultrasound examination to determine presence/absence of the nasal bone, presence/absence of tricuspid regurgitation or normal/abnormal Doppler velocity waveform in the ductus venosus, and CVS would be performed if their adjusted risk became 1 in 100 or more. Fetal NT and maternal serum free beta-hCG and PAPP-A were successfully measured in all cases. The median maternal age was 31 (range, 13-49) years, the median gestation at screening was 12 (range, 11 + 0 to 13 + 6) weeks and the median fetal crown-rump length was 62 (range, 45-84) mm. Chromosomal abnormalities were identified in 544 pregnancies, including 325 cases of trisomy 21. The estimated risk for trisomy 21 was 1 in 300 or greater in 5.2% of normal pregnancies, in 92.6% of those with trisomy 21, in 88.5% of those with trisomy 18 or 13 and in 85.6% of those with other chromosomal defects. The

  3. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.

    Directory of Open Access Journals (Sweden)

    Eric Z Chen

    Full Text Available Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a trisomy 13 fetus and 37 involved a trisomy 18 fetus, by massively parallel sequencing. By using our previously reported standard z-score approach, we demonstrated that this approach could identify 36.0% and 73.0% of trisomy 13 and 18 at specificities of 92.4% and 97.2%, respectively. We aimed to improve the detection of trisomy 13 and 18 by using a non-repeat-masked reference human genome instead of a repeat-masked one to increase the number of aligned sequence reads for each sample. We then applied a bioinformatics approach to correct GC content bias in the sequencing data. With these measures, we detected all (25 out of 25 trisomy 13 fetuses at a specificity of 98.9% (261 out of 264 non-trisomy 13 cases, and 91.9% (34 out of 37 of the trisomy 18 fetuses at 98.0% specificity (247 out of 252 non-trisomy 18 cases. These data indicate that with appropriate bioinformatics analysis, noninvasive prenatal diagnosis of trisomy 13 and trisomy 18 by maternal plasma DNA sequencing is achievable.

  4. Awareness among parents of β-thalassemia major patients, regarding prenatal diagnosis and premarital screening.

    Science.gov (United States)

    Ishaq, Fouzia; Abid, Hasnain; Kokab, Farkhanda; Akhtar, Adil; Mahmood, Shahid

    2012-04-01

    To assess the knowledge among parents of thalassemia major patients about prenatal diagnosis, premarital screening for carrier detection and impact of consanguineous marriage on disease transmission. Descriptive study. The Thalassemia Centre, Sir Ganga Ram Hospital, Lahore, from July to September 2009. One hundred and fifteen parents of β-thalassemia major patients were enrolled in this study. A questionnaire was developed and parents were interviewed to assess their knowledge about preventive measures against thalassemia major. Parents of patients with all other types of blood disorder were excluded from the study. There were 74 male (64.3%) and 41 female (35.7) patients with mean age of 9.5 ± 5.1 years. Eighty-eight patients (76.5%) were accompanied by mothers and the rest by their fathers. Seventy-four parents (32.1%) were illiterate; among the literates only 7 were highly educated (3%). Ninety-four couples (81.7%) had consanguineous marriage. Fiftytwo parents (44.6%) knew that thalassemia is an inherited disorder. Thirty-eight (33%) had heard about the test for detecting thalassemia carrier. Premarital screening and prenatal diagnosis was known to 97 (84.3%) and 88 (76.5%) parents respectively. Ninety-nine parents (86.1%) knew about the termination of pregnancy on positive prenatal test but only 69 considered it acceptable religiously (60%). Major source of information to the parents were doctors. Parental knowledge about thalassemia and its preventive measures was inadequate; this requires intervention in the form of public health education programs concentrating on high risk/targeted population.

  5. Nuclear Translocation of Nuclear Factor Kappa B in First Trimester Deciduas and Chorionic Villi in Early Spontaneous Miscarriage Women

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    Chun-fang Yan

    2010-02-01

    Full Text Available The nuclear factor kappa B is widely expressed in the distinct subpopulations of chorionic villi and deciduas of first-trimester pregnancies. We examined the cellular distribution and expression of nuclear factor kappa B in the human first-trimester chorionic villi and deciduas of women with early spontaneous miscarriage and viable pregnancy by confocal laser scanning microscope and immunohistochemistry. There is a greater nuclear translocation of nuclear factor kappa B is restricted to villous stromal cells, decidual stromal cells, glandular epithelial cells and vessel endothelial cells in early spontaneous miscarriage than in viable pregnancies. Collectively these observations suggest that over-activation of nuclear factor kappa B has a relationship with early spontaneous miscarriages.

  6. Sacrococcygeal teratoma: Case report, from prenatal diagnosis to resection and primary reconstruction

    Directory of Open Access Journals (Sweden)

    Paulina Menchaca S.

    2013-04-01

    Full Text Available INTRODUCTION: Sacrococcygeal teratoma (SCT is an uncommon pediatric condition (1 case per 27,000 live births, nevertheless, it is the most frequent neoplasia diagnosed at fetal age. Higher access to obstetric ultrasound allows prenatal diagnosis, appropriate planning, study and multidisciplinary treatment of these patients. CASE REPORT: In a routine obstetric evaluation, patient presented a heterogeneous, cystic mass in the sacrococcygeal region. A SCT was suspected, and an elective cesarean delivery was planned to term gestational age. The patient was delivered without complications, with a 15 cm sacrococcygeal mass. Imaging revealed an Altman II SCT, and serum tumor markers were measured. By the ninth day of life, surgery was performed with tumor and coccyx complete resection, pelvic floor reconstruction and primary closure. Postoperatively, the patient made a good recovery without digestive or neurological complications. The biopsy revealed a mature teratoma with minor immature neuroepithelial foci, without atypical cells. DISCUSSION: The prenatal diagnosis in SCT allows appropriate counseling of parents, derivation to specialized centers, and could identify high-risk patients for early interruption of gestation, taking into account a mortality rate as high as 16%. Preoperative classification is important for both treatment and prognosis. There is not enough evidence to recommend chemotherapy for the treatment of mature or immature benign teratomas. In this case, close long-term follow-up will be important to rule out recurrence, and urinary and fecal incontinence.

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

    Science.gov (United States)

    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.

  8. Application of Fetal DNA in Maternal Plasma in Noninvasive Prenatal Diagnosis

    Institute of Scientific and Technical Information of China (English)

    赵茵; 邹丽

    2004-01-01

    Summary: To explore the application of fetal DNA in maternal plasma for noninvasive prenatal diagnosis, the DNA template was extracted by hydroxybenzene-chloroform from 44 maternal (7-41weeks) plasma. The Fetus-derived Y sequence DYZ-1 gene (149bp) was chosen to be amplified by PCR. The fragment was identified in all the plasma of male bearing pregnant women with the diagnostic accordance rate being 100.00 %. Two of the 22 female bearing pregnant women had false positive results. Among the 44 pregnant women, the diagnostic accordance rate was 88. 89 % at early pregnant stage, 100.00 % at medium pregnant stage, and 96.55 % at late stage respectively.The final accuracy of 95. 45 % was obtained in all cases. It was concluded that by means of hydroxybenzene-chloroform extraction the authors of this article promoted the concentration and purity of the DNA template, and diagnosed more accurately. The results showed that free fetal DNA in the maternal plasma could be regarded as the gene resource for noninvasive prenatal diagnosis.

  9. Early and rapid prenatal diagnosis of monosomy 2q36.1 in trophoblast cells.

    Science.gov (United States)

    Tachdjian, Gérard; Aboura, Azzedine; Brisset, Sophie; Dommergues, Marc; Gajdos, Vincent; Labrune, Philippe

    2006-01-01

    CVS is the earliest procedure for cytogenetic analysis but the quality of metaphases obtained does not allow the characterization of subtle chromosomal anomalies. We report the application interphase fluorescence in situ hybridization for the rapid prenatal diagnosis of a subtle structural chromosome anomaly in trophoblast cells. The foetus was karyotyped because of a paternal complex chromosomal anomaly 46,XY,inv(2)(q14.3q35),ins(10;2)(q25;q36.1q36.1). Fluorescence in situ hybridization analyses were performed on interphase nuclei and metaphase chromosomes from uncultured chorionic villi using bacterial artificial chromosomes specific for the 2q chromosomal region. Direct conventional cytogenetics showed an apparently normal male karyotype, whereas fluorescence in situ hybridization analysis showed a deletion of the chromosomal region 2q36.1 and a paracentric inversion of the chromosome 2q leading to a partial monosomy 2q36.1. This strategy allowed us to offer an early and rapid chromosomal analysis for this couple leading to a better management of the pregnancy. This report demonstrates that interphase fluorescence in situ hybridization can be used in direct CVS for a rapid and early prenatal diagnosis of complex chromosomal rearrangements. 2006 S. Karger AG, Basel

  10. Dynamic mutation analysis of a SCA3 Chinese Han family and prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    LI Jing

    2012-06-01

    Full Text Available Objective To explore the clinical features, genetic characters and the importance of prenatal diagnosis in spinocerebellar ataxia 3 (SCA3 patients. Methods SCA3/ATXN3 gene was determined by using PCR and segmental analysis techniques in 2 patients among a SCA3 Chinese Han family which included 9 patients in four generations. One patient was the proband's fetus. The clinical characters were also documented and analyzed in this family. Results There were 9 patients in this family with autosomal dominant inheritance feature. The initial symptoms in all affected members except the fetus were the gait disorders accompanied by dysphasia. Inability of upward gaze and bilateral Barbinski's signs were noted in proband. The onset age became earlier from generation to generation in this family which was around 50 year-old, 40 to 45 year-old, 28 year-old in generation Ⅰ, Ⅱ and Ⅲ, respectively. CAG repeats in SCA3/ATXN3 allele were 77 in proband, as well as in the fetus, while the normal SCA3/ATXN3 allele CAG repeats were less than 44. Conclusion SCA3 is the most frequent subtype of SCA in Asian. Unsteadiness of gait are first noted in most patients accompanied by other different symptoms and signs. Genetic anticipation was found in SCA3. But gene analysis revealed less dynamic mutation frequence in this family. Since there was no effective treatment in SCA3, hereditary consultation and prenatal diagnosis play an important role in disease prevention and hereditary.

  11. Prenatal diagnosis of abnormal umbilical cord insertion: a rare case of furcate insertion.

    Science.gov (United States)

    Fujita, Yasuyuki; Yumoto, Yasuo; Kato, Kiyoko

    2017-04-01

    Furcate insertion (FI) is an extremely rare abnormality of umbilical cord insertion. One of the complications associated with FI is hemorrhage from the umbilical vein at the site of FI of the umbilical cord, which can cause sudden intrauterine fetal death. Because of its rarity, no prenatal diagnosis of FI has been reported. A 31-year-old woman at 34 weeks' gestation was referred to us for suspected abnormal cord insertion. Ultrasonography showed normal fetal growth and amniotic fluid volume, with no fetal anomalies. Although the umbilical cord contained three vessels inserted at the center of the placenta, the umbilical vessels separated from the cord substance before their insertion to the placenta. Based on these findings, the patient was diagnosed with FI. During labor at 37 weeks' gestation, fetal heart rate was normal and a healthy neonate was delivered. At macroscopic examination, the umbilical cord was inserted in the middle of the placenta, and the placental parenchymal tissue just under the cord insertion was deficient and had been changed to white, elastic hard tissue. Pathological examination of the white tissue revealed fibrin deposition and focal infarction. Although FI is a very rare condition, prenatal diagnosis can be achieved through detailed color Doppler ultrasound studies. Therefore, taking precautions and keeping in mind the poor fetal outcome associated with FI are preferred.

  12. First-trimester prediction of pre-eclampsia: external validity of algorithms in a prospectively enrolled cohort.

    Science.gov (United States)

    Oliveira, N; Magder, L S; Blitzer, M G; Baschat, A A

    2014-09-01

    To evaluate the performance of published first-trimester prediction algorithms for pre-eclampsia (PE) in a prospectively enrolled cohort of women. A MEDLINE search identified first-trimester screening-prediction algorithms for early-onset (requiring delivery algorithms were applied to this population to calculate predicted probabilities for PE. The performance of the prediction algorithms was compared with that in the original publication and evaluated for factors explaining differences in prediction. Six early and two late PE prediction algorithms were applicable to 871-2962 women, depending on the variables required. The prevalence of early PE was 1.0-1.2% and of late PE was 4.1-5.0% in these patient subsets. One early PE prediction algorithm performed better than in the original publication (80% detection rate (DR) of early PE for 10% false-positive rate (FPR)); the remaining five prediction algorithms underperformed (29-53% DR). Prediction algorithms for late PE also underperformed (18-31% DR, 10% FPR). Applying the screening cut-offs based on the highest Youden index probability scores correctly detected 40-80% of women developing early PE and 71-82% who developed late PE. Exclusion of patients on first-trimester aspirin resulted in DRs of 40-83% and 65-82% for early and late PE, respectively. First-trimester prediction algorithms for PE share a high negative predictive value if applied to an external population but underperform in their ability to correctly identify women who develop PE. Further research is required to determine the factors responsible for the suboptimal external validity. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  13. Sequential triage in the first trimester may enhance advanced ultrasound scanning in population screening for trisomy 21.

    Science.gov (United States)

    Gyselaers, W J A; Roets, E R A; Van Holsbeke, C D Y J; Vereecken, A J; Van Herck, E J H; Straetmans, D P L; Ombelet, W U A M; Nijhuis, J G

    2006-06-01

    To design a trisomy 21 screening protocol for sequential triage in the first trimester, and to evaluate whether it reduces the need for advanced ultrasound scanning to such an extent that this could be dealt with by a limited number of well-trained sonographers only. Screening results of 31 trisomy 21 affected pregnancies and 16 096 unaffected pregnancies from the first trimester screening program of Algemeen Medisch Laboratorium in Antwerp, Belgium, were used to define high-risk, intermediate-risk and low-risk groups. A serum screening result (age, pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (beta-hCG)) of >or=1 : 30 and/or a nuchal translucency thickness (NT) measurement of >or= 3.5 mm were classified as high risk. A serum screening result of trisomy 21 pregnancies and 222 unaffected pregnancies; prevalence, 1 : 17), 59.6% was identified as being low risk (three trisomy 21 pregnancies and 9615 unaffected pregnancies; prevalence, 1 : 3206) and 38.4% was identified as being intermediate risk (10 trisomy 21 pregnancies and 6190 unaffected pregnancies; prevalence, 1 : 620). A similar distribution was found in the prospective arm of the study. There was no reduction of overall screening performance compared with our current first-trimester combined screening program. The number of intermediate-risk pregnancies was sufficiently low as to enable advanced ultrasound scanning by well-trained sonographers only. In population screening for fetal trisomy 21, sequential triage in the first trimester can be achieved using very simple methods. Pregnancies at high or at low risk can be identified easily and the number of pregnancies at intermediate risk can be reduced sufficiently to enable advanced ultrasound scanning by well-trained sonographers only. A prospective study is needed to evaluate the performance of this approach and to compare its results with current combined or integrated screening algorithms. Copyright 2006 ISUOG

  14. Maternal consumption of non-staple food in the first trimester and risk of neural tube defects in offspring.

    Science.gov (United States)

    Wang, Meng; Wang, Zhi-Ping; Gao, Li-Jie; Yang, Hui; Zhao, Zhong-Tang

    2015-04-24

    To study the associations between maternal consumption of non-staple food in the first trimester and risk of neural tube defects (NTDs) in offspring. Data collected from a hospital-based case-control study conducted between 2006 and 2008 in Shandong/Shanxi provinces including 459 mothers with NTDs-affected births and 459 mothers without NTDs-affected births. Logistic regression models were used to examine the associations between maternal consumption of non-staple food in the first trimester and risk of NTDs in offspring. The effects were evaluated by odds ratio (OR) and 95% confidence intervals (95% CIs) with SAS9.1.3.software. Maternal consumption of milk, fresh fruits and nuts in the first trimester were protective factors for total NTDs. Compared with consumption frequency of ˂1 meal/week, the ORs for milk consumption frequency of 1-2, 3-6, ≥7 meals/week were 0.50 (95% CI: 0.28-0.88), 0.56 (0.32-0.99), and 0.59 (0.38-0.90), respectively; the ORs for fresh fruits consumption frequency of 1-2, 3-6, ≥7 meals/week were 0.29 (95% CI: 0.12-0.72), 0.22 (0.09-0.53), and 0.32 (0.14-0.71), respectively; the ORs for nuts consumption frequency of 1-2, 3-6, ≥7 meals/week were 0.60 (95% CI: 0.38-0.94), 0.49 (0.31-0.79), and 0.63 (0.36-1.08), respectively. Different effects of above factors on NTDs were found for subtypes of anencephaly and spina bifida. Maternal non-staple food consumption of milk, fresh fruits and nuts in the first trimester was associated with reducing NTDs risk in offspring.

  15. T CD3+CD8+ Lymphocytes Are More Susceptible for Apoptosis in the First Trimester of Normal Human Pregnancy

    Directory of Open Access Journals (Sweden)

    Dorota Darmochwal-Kolarz

    2014-01-01

    Full Text Available Aims. Normal human pregnancy is a complex process of many immunoregulatory mechanisms which protect fetus from the activation of the maternal immune system. The aim of the study was to investigate the apoptosis of lymphocytes in peripheral blood of normal pregnant patients and healthy nonpregnant women. Methods. Sixty pregnant women and 17 nonpregnant women were included in the study. Lymphocytes were isolated and labeled with anti-CD3, anti-CD4, and anti-CD8 monoclonal antibodies. Apoptosis was detected by CMXRos staining and analyzed using the flow cytometric method. Results. We found significantly higher apoptosis of total lymphocytes in peripheral blood of pregnant patients when compared to healthy nonpregnant women. The percentage of apoptotic T CD3+CD8+ cells in the first trimester was significantly higher when compared to the third trimester of normal pregnancy. The ratio of T CD3+CD4+ : T CD3+CD8+ apoptotic lymphocytes was significantly lower in the first trimester when compared to other trimesters of pregnancy and to both of the phases of the menstrual cycle. Conclusions. The higher apoptosis of T CD3+CD8+ lymphocytes and the lower ratio of T CD3+CD4+ : T CD3+CD8+ apoptotic cells in the first trimester of normal pregnancy may suggest a higher susceptibility of T CD3+CD8+ cells for apoptosis as a protective mechanism at the early stage of pregnancy.

  16. Continuation of metformin in the first trimester of women with polycystic ovarian syndrome is not associated with increased perinatal morbidity.

    LENUS (Irish Health Repository)

    Bolton, S

    2012-02-01

    This study aimed to assess the perinatal outcome, especially foetal growth, following the continuation of metformin during the first trimester of pregnancy. All women with polycystic ovary syndrome (PCOS) treated with metformin in the first trimester and who delivered a baby weighing 500 g or more between 2003 and 2005 were studied. Subjects were matched for age and parity with randomly selected controls. The perinatal outcomes studied were: growth parameters, gestational age, congenital defects, hypoglycaemia and neonatal unit admission. Sixty-six pregnancies were compared with 66 controls; all had singleton deliveries. There was no difference in mean birth weight between the metformin and the control groups (p=0.84). The percentage of small (<10th centile) and large (>90th centile) for gestational age babies was lower in the metformin group. In the metformin group, there were no major congenital malformations and 24% of the babies were admitted to the neonatal intensive care unit (NICU) compared with 27% of the babies in the control group (non-significant). Neonatal hypoglycaemia was less common in the metformin group (18.5% vs. 24.5%) and fewer babies required intravenous glucose therapy (6.3% vs. 12%). We found no evidence that the continuation of metformin in the first trimester of pregnancy was associated with an adverse foetal outcome.

  17. Observational study comparing the performance of first-trimester screening protocols for detecting trisomy 21 in a North Indian population.

    Science.gov (United States)

    Kaul, Anita; Singh, Chanchal; Gupta, Rachna; Arora, Nidhi; Gupta, Abha

    2017-04-01

    To evaluate first-trimester screening protocols for detecting trisomy 21 in an Indian population. The present prospective study collected data from women with singleton pregnancies and a crown-to-rump length of 45-84 mm who presented at the fetal medicine unit of a tertiary care center in North India between June 1, 2006, and December 31, 2015, for combined first-trimester screening. Maternal age, nuchal translucency, nasal bone, and maternal serum levels of free beta human chorionic gonadotropin and pregnancy-associated plasma protein A were assessed for calculating the risk of trisomy 21. Tricuspid regurgitation and qualitative analysis of ductus venosus data were available from June 2010, and were included where available. Trisomy-21 detection rates were calculated for various screening protocols and were compared. There were 4523 women screened and 24 records of trisomy 21. Combined screening with maternal age, nuchal translucency, nasal bone, tricuspid regurgitation, and ductus venosus demonstrated optimal detection and false-positive rates of 93.8% and 1.9%, respectively. Screening using only maternal age yielded a detection rate of 37.5%; using fixed nuchal translucency cut-off values of 2.5 and 3 mm resulted in detection rates of 66.7% and 37.5%, respectively. Combined first-trimester screening performed well in an Indian population; combining maternal age, nuchal translucency, nasal bone, ductus venosus, and tricuspid regurgitation yielded the most accurate screening. © 2016 International Federation of Gynecology and Obstetrics.

  18. Medians and correction factors for biochemical and ultrasound markers in Chinese women undergoing first-trimester screening for trisomy 21.

    Science.gov (United States)

    Sahota, D S; Leung, T Y; Fung, T Y; Chan, L W; Law, L W; Lau, T K

    2009-04-01

    To establish normative values and distribution parameters of first-trimester maternal serum free beta-human chorionic gonadotropin (beta-hCG), pregnancy-associated plasma protein-A (PAPP-A) and fetal nuchal translucency (NT) thickness in Chinese women and to examine the effects of covariates on their levels. Maternal serum free beta-hCG, PAPP-A and fetal NT were measured in 9762 women presenting for first-trimester combined screening for Down syndrome at 11 to 14 weeks of gestation. Individuals' markers were converted to multiples of the median (MoM) using expected medians estimated by performing a weighted regression analysis. Multivariate regression analysis was performed to assess the influence of maternal weight, parity, ethnicity, chorionicity in twin pregnancies, smoking, insulin-dependent diabetes and mode of conception on individual marker MoM levels. Both free beta-hCG and PAPP-A median values demonstrated an exponential relationship with gestational age in days. Multivariate regression analysis indicated that free beta-hCG MoM was statistically significantly dependent on maternal weight (P hCG and PAPP-A to their MoM equivalents and correction factors have been determined to adjust for maternal and pregnancy characteristics for use in ethnic Chinese women undergoing first-trimester screening for aneuploidy. (c) 2009 ISUOG. Published by John Wiley & Sons, Ltd.

  19. First-trimester transabdominal multifetal pregnancy reduction: a report of two hundred completed cases.

    Science.gov (United States)

    Berkowitz, R L; Lynch, L; Lapinski, R; Bergh, P

    1993-07-01

    Multifetal pregnancy reduction has been proposed as a way to reduce the risk of preterm delivery in women who conceive three or more fetuses. This communication presents the outcome of 200 consecutive multifetal pregnancies in which reduction to a smaller number of fetuses was accomplished. All of the procedures were performed in the first trimester by the transabdominal injection of potassium chloride into the thoraces of those fetuses that underwent feticide. All of the pregnancies have been completed and outcome data have been obtained in every case. At the time of the procedure 88 women had triplets, 89 had quadruplets, 16 had quintuplets, and 7 had from 6 to 9 fetuses. These pregnancies were reduced to 189 sets of twins, 5 sets of triplets, and 6 singletons. Reductions to triplets were done at the patient's request, and reductions to singletons were only done for medical indications. There were no cases of chorioamnionitis or other maternal complications attributable to the procedure. A total of 181 women were delivered of one or more live infants after 24 weeks' gestation, and 19 (9.5%) lost all of their fetuses before that time. The mean gestational age for all women delivered after 24 weeks was 35.7 weeks. The mean gestational age at delivery varied inversely with the initial number of fetuses, from 36.1 weeks for women who presented with triplets to 33.8 weeks for those who had 6 or more fetuses, and this trend was statistically significant. Sixteen of the 19 complete pregnancy losses occurred > 4 weeks after the reduction procedure had been performed. The loss rates were 7.9% for those who presented with 3 or 4 fetuses, 12.5% for those with 5, and 42.9% for those with > or = 6. This trend was statistically significant. Two neonates died in the first week of life and one died at 10 months of age as a consequence of the sequelae of severe prematurity. Only two surviving infants have shown evidence of chronic morbidity related to early delivery, and all of

  20. Prenatal diagnosis and outcome of right aortic arch without significant intracardiac anomaly.

    Science.gov (United States)

    Razon, Yaron; Berant, Michael; Fogelman, Rami; Amir, Gabriel; Birk, Einat

    2014-12-01

    Right aortic arch (RAA) is usually associated with the presence of a significant congenital heart disease, usually a conotruncal defect, which determines the postnatal outcome. In the absence of such cardiac defects, the significance of RAA has not been determined. The aims of this study were to evaluate the significance of recognizing RAA in fetuses with normal or near normal intracardiac anatomy and to determine which associations may be present. A retrospective study was completed of all fetuses diagnosed with RAA with normal or near normal intracardiac anatomy between 1999 and 2011. The aim was to evaluate the presence of RAA with complete ultrasonic evaluation using two-dimensional imaging complemented by the Doppler color flow technique, paying particular attention to the three-vessel and tracheal view. We compared the prenatal findings with the postnatal outcomes and management of this cohort of fetuses. Among 16,450 fetal echocardiograms, 58 fetuses (0.35%) were diagnosed with RAA with normal or near normal intracardiac anatomy. Gestational age at diagnosis ranged from 19 to 34 weeks (mean, 23 weeks). Isolated RAAs were found in 50 fetuses, and double aortic arches (DAAs) were recognized in eight other cases. The postnatal cohort consisted of 44 newborns with RAAs and eight with DAAs (two were lost to follow-up, and four pregnancies were terminated). Postnatal echocardiography confirmed the prenatal diagnosis of RAA in 41 of 45 children, and four were found to have DAAs. Three of seven fetuses diagnosed prenatally as having DAAs were found to have only RAAs. Fourteen fetuses underwent karyotyping; two had 22q11 deletion and two had 47xxy. Eleven infants (21%) had respiratory symptoms, eight with DAAs, one with RAA, mirror-image head and neck vessels, and two with RAAs and aberrant left subclavian arteries. Surgery was indicated in all symptomatic patients except one, whose symptoms resolved. One asymptomatic patient underwent operation for significant

  1. Health behaviour modelling for prenatal diagnosis in Australia: a geodemographic framework for health service utilisation and policy development

    Directory of Open Access Journals (Sweden)

    Halliday Jane L

    2006-09-01

    Full Text Available Abstract Background Despite the wide availability of prenatal screening and diagnosis, a number of studies have reported no decrease in the rate of babies born with Down syndrome. The objective of this study was to investigate the geodemographic characteristics of women who have prenatal diagnosis in Victoria, Australia, by applying a novel consumer behaviour modelling technique in the analysis of health data. Methods A descriptive analysis of data on all prenatal diagnostic tests, births (1998 and 2002 and births of babies with Down syndrome (1998 to 2002 was undertaken using a Geographic Information System and socioeconomic lifestyle segmentation classifications. Results Most metropolitan women in Victoria have average or above State average levels of uptake of prenatal diagnosis. Inner city women residing in high socioeconomic lifestyle segments who have high rates of prenatal diagnosis spend 20% more on specialist physician's fees when compared to those whose rates are average. Rates of prenatal diagnosis are generally low amongst women in rural Victoria, with the lowest rates observed in farming districts. Reasons for this are likely to be a combination of lack of access to services (remoteness and individual opportunity (lack of transportation, low levels of support and income. However, there are additional reasons for low uptake rates in farming areas that could not be explained by the behaviour modelling. These may relate to women's attitudes and choices. Conclusion A lack of statewide geodemographic consistency in uptake of prenatal diagnosis implies that there is a need to target health professionals and pregnant women in specific areas to ensure there is increased equity of access to services and that all pregnant women can make informed choices that are best for them. Equally as important is appropriate health service provision for families of children with Down syndrome. Our findings show that these potential interventions are

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

    Science.gov (United States)

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

    1997-09-01

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

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

    Science.gov (United States)

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

    2014-08-01

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

  4. The prospect and current situation of prenatal diagnosis in mainland China%中国大陆产前诊断的现状和前景

    Institute of Scientific and Technical Information of China (English)

    王斌

    2006-01-01

    @@ 1 The history and main problems in prenatal diagnosis and clinical diagnosis of inherited diseases Prenatal diagnosis is to diagnose the fetal congenital defects and inherited diseases. In the earlier 1970s, the group of prenatal diagnosis in Peking Union Hospital was founded by Dr. Qiao-zhi LIN.Meanwhile, under the leadership of Dr. LIN, the group successfully completed the culture of amniotic fluid cells and began to diagnose fetal chromosomal diseases in the second trimester of pregnancy. In 1988, they succeeded in diagnosing chromosomal diseases by taking the chorionic villus in the early pregnancy. Since then, the genetic and prenatal counseling to those women who previously had children with severe defects were gradually developed. The work of the Peking Union Hospital developed prenatal diagnosis in our country.

  5. Fetal blood sampling in twin pregnancies. Prenatal diagnosis and management of 19 cases.

    Science.gov (United States)

    Cox, W L; Forestier, F; Capella-Pavlovsky, M; Daffos, F

    1987-01-01

    Twin pregnancies pose particular problems in both prenatal diagnosis and obstetric management. We present 19 twin pregnancies that underwent fetal blood sampling (FBS). The indications were mostly similar to those for singleton pregnancies, with both fetuses being sampled. There was one indication specific to twin pregnancies; disseminated intravascular coagulation in the retained twin after the death-in-utero (DIU) of the other. In 5 cases, only 1 twin was sampled; in 2 because the second twin was female in the diagnosis of an X-linked disorder; in 1 because of technical failure, and in 2 the other twin had predeceased. Eight pregnancies continued after the FBS delivering 2 live, healthy infants, though 5 were delivered before 37 weeks of gestation. In 7 cases there was a discordance in the diagnosis between the twins. In 3 of these cases the affected fetus underwent selective termination by air embolism; in 2 cases the pregnancies were continued and the affected twin not resuscitated; 1 pregnancy is still in progress, and 1 patient had a non-medically supervised termination of both twins in another country. Two patients miscarried within a week of the FBS. Two patients had only 1 living twin at the time of FBS; 1 had a second DIU a month after the FBS and the other a neonatal death at 11 days of age in an infant with severe porencephaly. FBS is technically feasible for similar indications as for singleton pregnancies though discordance in diagnosis raises specific management problems.

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

    Directory of Open Access Journals (Sweden)

    Harvey J. Stern

    2014-03-01

    Full Text Available 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.

  7. Primary prevention of hemoglobinopathies by prenatal diagnosis and selective pregnancy termination in a Muslim country: Oman

    Directory of Open Access Journals (Sweden)

    Suha Mustafa Hassan

    2014-11-01

    Full Text Available Hemoglobinopathies (HBP are the most common genetic disorder in Oman and are in need of prevention programs due to the high incidence of β-thalassemia major and sickle cell disease. Prenatal diagnosis (PD and selective pregnancy termination is shown to be the most effective prevention tool for the control of HBP. However, PD is not available in Oman thus far because abortion is subject to religious, cultural and ethical issues. We have examined the attitude of a number of Omani HBP carrier couples towards prenatal diagnosis and selective abortion. We have interviewed 35 couples at risk visiting the main premarital clinic in Muscat between Jan 2011 and Jan 2012. Couples were interviewed using a pre-structured questionnaire. The majority would have accepted prenatal diagnosis (94% if the service would be available in the country but pregnancy termination was greatly influenced by religious values. 血红蛋白病(HBP)是一种在阿曼最常见的遗传性疾病,由于其高发的B型地中海贫血症及镰状细胞症,相关的预防措施对于这一国家来说,相当重要。产前诊断(PD)和选择性终止妊娠被证实是针对管控血红蛋白病(HBP)的最有效方法。然而,由于受到宗教、文化和伦理抵制堕胎的影响,产前诊断(PD)并不能在该国得以应用。我们对该国一部分血红蛋白病患夫妇做了一项关于产前诊断的意向调查。2011年一月至2012年一月,我们在马斯喀特(阿曼首都)的一家婚前诊所对35对夫妇做了相关的采访调查。调查的问卷是事先设置好的。大部分(94%)夫妇表示接受产前诊断如果相应的措施能得到广泛的普及,但是他们对于选择性终止妊娠的态度受到了其宗教价值观的极大影响。

  8. Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations.

    Science.gov (United States)

    Wallerstein, Robert; Misra, Sonya; Dugar, R Bryce; Alem, Monika; Mazzoni, Ronit; Garabedian, Matthew J

    2015-09-01

    Genetic counseling for prenatal diagnosis of autosomal trisomy is complex because of the uncertainty of outcome, which is important for management decisions. Compilation of cases of prenatally diagnosed autosomal trisomies in amniocytes has been done previously in an attempt to elucidate the clinical phenotype of these pregnancies. It has been greater than a decade since these studies were completed. To update this work, we reviewed cases reported in the literature since that time. These cases are correlated with the prior reports to increase knowledge about outcomes and to hopefully improve the data available for genetic counseling. The risk of abnormal outcome can be summarized as: very high risk (>60%) for 47,+2/46; 47,+9/46; 47,+16/46; 47,+20/46; and 47,+22/46; high risk (40-59%) for 47,+5/46; 47,+14/46; and 47,+15/46; moderately high risk (20-39%) for 47,+7/46 47,+12/46; and 47,+17/46; moderate risk (up to 19%) for 47,+6/46 and 47,+8/46, and none were low risk. 47,+6/46 was originally indeterminate, 47,+7/46 was originally moderate risk, 47,+9/46 was originally high risk, and 47,+17/46 was originally low risk. © 2015 John Wiley & Sons, Ltd.

  9. [Prenatal diagnosis with fetal cells in maternal blood: report of experiences in Basal].

    Science.gov (United States)

    Holzgreve, W; Troeger, C; Schatt, S; Vial, Y; Louwen, F; Gloning, K; Hahn, S

    1998-10-24

    Currently prenatal diagnosis relies on invasive procedures such as chorion villus sampling (CVS) or amniocentesis (AC). Many parents are reluctant to expose themselves and their child to the small, but significant risk posed by these procedures to mother and child. There is, hence, a great need for a risk-free non-invasive alternative. To achieve this goal most research has been focussed on enriching fetal cells from the blood of pregnant women. The erythroblast has emerged as the target cell of choice, since it is abundant in the early fetus, rare in normal adult blood, and since it has a very short half life, there is no risk of obtaining cells from previous pregnancies. Most enrichment protocols rely either on magnetic- or fluorescent activated cell sorting (MACS and FACS) using fetal specific antibodies. These enriched cells can be examined by FISH (fluorescence in-situ hybridisation) for the presence of the most common fetal chromosomal aneuploidies (13, 18, 21, X and Y) or by polymerase chain reaction (PCR) on singly manipulated cells for genetic disorders. The efficacy in detecting fetal aneuploidies is currently being evaluated in a phase II clinical trial under the auspices of the NIH-NICHD, the so-called NIFTY Trial, in which our group is a participant. By modifying our enrichment protocols we have recently been able to obtain detection sensitivities of almost 80%, thereby renewing our optimism that this methodology provides a solid basis for an effective non-invasive prenatal diagnostic test.

  10. Same-day prenatal diagnosis of common chromosomal aneuploidies using microfluidics-fluorescence in situ hybridization.

    Science.gov (United States)

    Ho, Sherry S Y; Chua, Cuiwen; Gole, Leena; Biswas, Arijit; Koay, Evelyn; Choolani, Mahesh

    2012-04-01

    Rapid molecular prenatal diagnostic methods, such as fluorescence in situ hybridization (FISH), quantitative fluorescence-PCR, and multiplex ligation-dependent probe amplification, can detect common fetal aneuploidies within 24 to 48 h. However, specific diagnosis or aneuploidy exclusion should be ideally available within the same day as fetal sampling to alleviate parental anxiety. Microfluidic technologies integrate different steps into a microchip, saving time and costs. We have developed a cost-effective, same-day prenatal diagnostic FISH assay using microfluidics. Amniotic fluids (1-4 mL from 40 pregnant women at 15-22 weeks of gestation) were fixed with Carnoy's before loading into the microchannels of a microfluidic FISH-integrated nanostructured device. The glass slides were coated with nanostructured titanium dioxide to facilitate cell adhesion. Pretreatment and hybridization were performed within the microchannels. Fifty nuclei were counted by two independent analysts, and all results were validated with their respective karyotypes. Of the 40 samples, we found three cases of fetal aneuploidies (trisomies 13, 18, and 21), whereas the remaining 37 cases were normal. Results were concordant with their karyotypes and ready to be released within 3 h of sample receipt. Microfluidic FISH, using 20-fold less than the recommended amount of probe, is a cost-effective method to diagnose common fetal aneuploidies within the same day of fetal sampling.

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

    Energy Technology Data Exchange (ETDEWEB)

    Weremowicz, S.; Sandstrom, M.McH.; Walsh, K.A. [Harvard Medical School, Boston, MA (United States)] [and others

    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. Potential biomarkers for Turner in maternal plasma: possibility for noninvasive prenatal diagnosis.

    Science.gov (United States)

    Kolialexi, Aggeliki; Anagnostopoulos, Athanasios K; Papantoniou, Nikos; Vougas, Konstantinos; Antsaklis, Aris; Fountoulakis, Michael; Mavrou, Ariadni; Tsangaris, George Th

    2010-10-01

    Turner syndrome (TS) is the most common sex chromosome abnormality in females, caused by the complete or partial absence of one X chromosome. To identify biomarkers for TS, we compared the protein composition of maternal plasma samples from pregnant women with normal and TS fetuses, using a proteomic approach consisting of 2D-E separation and MS analysis for the identification of the differentially expressed proteins. Samples were routinely obtained in the second trimester of pregnancy, stored, and used after prenatal determination of the fetal karyotype. Nine proteins (C1S, CO3, CLUS, AFAM, HABP2, IGHA1, HPT, SHBG, and CD5L) were significantly increased in the plasma of women carrying TS fetuses, whereas KNG1, IGJ, and TTHY were decreased. Identified proteins were further evaluated by immunoblot analysis while functional network association was carried out to asses significance. The identification of specific biomarkers may facilitate the development of noninvasive prenatal diagnosis and improve our understanding of the pathology of TS. Nevertheless, testing a larger cohort of pregnant women is necessary to evaluate the relevance of the reported findings.

  13. Maternal hyperglycemia in singleton pregnancies conceived by IVF may be modified by first-trimester BMI.

    Science.gov (United States)

    Cai, S; Natarajan, P; Chan, J K Y; Wong, P C; Tan, K H; Godfrey, K M; Gluckman, P D; Shek, L P C; Yap, F; Kramer, M S; Chan, S Y; Chong, Y S

    2017-09-01

    Does IVF independently increase the risk of gestational diabetes mellitus (GDM) and is this increase in risk modified by maternal body mass index? IVF appears to be an independent risk factor for GDM and elevated blood glucose levels in overweight women (BMI > 25 kg/m2). IVF has been associated with increased risk of GDM, but most previous studies did not adequately assess confounding or effect modification by other risk factors. Cross-sectional study using data from 1089 women with singleton pregnancies who participated in a Singaporean birth cohort study (GUSTO) and received a 75 g oral glucose tolerance test (OGTT) at 26-28 weeks gestation. A total of 1089 women (n = 1013 conceived spontaneously, n = 76 conceived through IVF) with singleton pregnancies received a 75 g OGTT at 26-28 weeks gestation. Fasting and 2 h postprandial blood glucose levels were assayed. World Health Organization criteria (1999) standard criteria were used to classify GDM: ≥7.0 mmol/L for fasting and/or ≥7.8 mmol/L for 2-h postprandial plasma glucose levels, which was the clinical guideline in use during the study. IVF pregnancies had nearly double the odds of GDM (OR = 1.83, 95% CI: 1.03-3.26) and elevated fasting (mean difference = 0.12 mmol/L, 95% CI: 0.00-0.24) and OGTT 2-h blood glucose levels (mean difference = 0.64 mmol/L, 95% CI: 0.27-1.01), after adjusting for commonly recognized risk factors for GDM. After stratification by first-trimester BMI, these increased risks of GDM (OR = 3.54, 95% CI: 1.44-8.72) and elevated fasting (mean difference = 0.39 mmol/L, 95% CI: 0.13-0.65) and 2-h blood (mean difference = 1.24 mmol/L, 95% CI: 0.56-1.91) glucose levels were significant only in the IVF group who is also overweight or obese (BMI > 25 kg/m2). One limitation of our study is the absence of a 1 h post-OGTT plasma glucose sample, as we were using the 1999 WHO diagnostic criteria (the clinical guideline in Singapore) at the time of our study, instead of the revised 2013 WHO

  14. Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma

    NARCIS (Netherlands)

    Oever, J.M. van den; Bijlsma, E.K.; Feenstra, I.; Muntjewerff, N.; Mathijssen, I.B.; Bakker, E. de; Belzen, M.J. van; Boon, E.M.

    2015-01-01

    OBJECTIVE: With a shift towards noninvasive testing, we have explored and validated the use of noninvasive prenatal diagnosis (NIPD) for Huntington disease (HD). METHODS: Fifteen couples have been included, assessing a total of n = 20 pregnancies. Fetal paternally inherited CAG repeat length was det

  15. Down Syndrome Due to Unbalanced Homologous Acrocentric Rearrangements and its Recurrence in Subsequent Pregnancies: Prenatal Diagnosis by Amniocentesis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2009-12-01

    Conclusion: We found a frequency of 0.019% for rea(21q21q Down syndrome in patients undergoing amniocentesis. Down syndrome caused by the homologous rearrangement rea(21q21q can be associated with recurrence. Prenatal diagnosis of rea(21q21q Down syndrome should include extensive cytogenetic and molecular analyses of the parents and probands.

  16. Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies.

    Science.gov (United States)

    Hou, Wen-Chien; Chen, Chih-Ping; Hwang, Kwei-Shuai; Chen, Ying-Chieh; Lai, Yu-Ju; Tien, Chau-Yang; Su, Her-Young

    2014-12-01

    We describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions. A 31-year-old woman (gravida 3, para 1) was referred for genetic counseling because a fetal omphalocele had been detected. Prenatal ultrasonography at 17+ weeks of gestational age revealed a singleton female fetus with biometry equivalent to 18 weeks with an omphalocele. In addition, symbrachydactyly was also noted in the right arm; the wrist bones as well as the metacarpals were missing. A chromosomal study was arranged for a congenital anomaly involving omphalocele. We obtained Giemsa-banded chromosomes from fetal tissue cells, and an abnormal male karyotype with a terminal deletion of the short arm of chromosome 9 at band 9p13 was noted. After delivery, the fetus showed omphalocele, symbrachydactyly, trigonocephaly, sex reversal, a long philtrum, low-set ears, telecanthus, and a frontal prominence. Prenatal diagnosis of abnormal ultrasound findings with omphalocele and symbrachydactyly should include the differential diagnosis of a chromosome 9p deletion. Copyright © 2014. Published by Elsevier B.V.

  17. Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program

    NARCIS (Netherlands)

    Fleurke-Rozema, Hanneke; van de Kamp, Karline; Bakker, Marian; Pajkrt, Eva; Bilardo, Caterina; Snijders, Rosalinde

    ObjectiveTo examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007. MethodsA prospective cohort study was undertaken in two fetal medicine units in the Netherlands. Cases were

  18. APPLICATION OF FIRST-MIDTRIMESTER PREGNANCY ULTRASOUND COMBINED WITH INVASIVE PRENATAL DIAGNOSIS IN TWIN PREGNANCY%早中孕期超声联合有创性产前诊断在双胎妊娠中的应用

    Institute of Scientific and Technical Information of China (English)

    胡矩锋; 李炳星; 高丽丽

    2015-01-01

    效降低出生缺陷,在提高人口素质方面有重要的应用价值。%Objective Evaluate application value that ultrasound of first‐midtrimester combined with in‐vasive prenatal diagnosis in linyi city .Methods Research of first‐midtrimester pregnancy ultrasound com‐bined with invasive prenatal diagnosis in twin pregnancy from Octobor 2014 to May 2015 clinic in our hos‐pital during the 11 weeks ago ,statistics of pregnant age ,first trimester ultrasound ,18 to 22 weeks ultra‐sound ,invasive prenatal diagnosis ,prenatal diagnosis ,selective reduction ,etc .summary all the data ,a‐nalysis the application value of first‐midtrimester pregnancy ultrasound combined with invasive prenatal di‐agnosis in twin pregnancy in linyi city .Results Included in the study of a total of 1437 cases of twin preg‐nancy ,anomaly detection ,with pregnancy ultrasound system is 56 cases ,ultrasonic detection of first tri‐mestr abnormalities is 7 cases ,abnormal ultrasonic detection of midtrimester is 49 cases ,invasive prenatal diagnosis to all ultrasonic detection pregnancy ,actually have invasive prenatal diagnosis ,27 cases (48 . 2% ) ,including 3 patients to CVS ,24 cases to amniocentesis .The actual number of prenatal diagnosis of fetal 47 (including twins prenatal diagnosis in 21 cases ,one of the tires to prenatal diagnosis of 5 cases) , diagnosis of five chromosome abnormality ,are one of the twins anomalies (including 1 case no abnormal sonographic findings but prenatal diagnosis) ,including 2 cases of one of twins 21 three body syndrome , chromosome abnormality rate 10 .6% (5/47) .7 cases to selective reduction (5 cases of abnormal chromo‐some abnormality and 2 cases of ultrasonic normal chromosome) ,else choose expectation .Avoided the born of abnormal karyotypes including 2 cases of 47 ,+21 (including ultrasonic no abnormality in 1 case)、2 cases of 47 ,+18 and 1 case of 47 ,+13 ,and 1 case of fetal ascites ,1 cases of tetralogy of fallot

  19. Prenatal diagnosis of Pallister-Killian syndrome associated with pulmonary stenosis and right ventricular dilatation.

    Science.gov (United States)

    Park, In Yang; Shin, Jong Chul; Kwon, Ji Young; Koo, Bo Kyung; Kim, Myungshin; Lim, Jihyang; Kim, Yonggoo; Han, Kyungja

    2009-08-01

    Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++)[16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography.

  20. Carrier detection and prenatal diagnosis of hemophilia B with more advanced techniques.

    Science.gov (United States)

    Caprino, D; Acquila, M; Mori, P G

    1993-12-01

    We used the PCR to amplify three polymorphic regions of Factor IX gene on 35 Italian families: DdeI intron 1, Mn1I exon f, and the polymorphism HhaI located 8 kb at the 3' end of FIX gene. We analyzed the Mn1I and HhaI markers on DGGE and DdeI polymorphism on agarose gel. We reached an informativity of 78% and we found one mutation at codon 145 (exon f) during the screening for Mn1I polymorphism. Furthermore, we performed 16 prenatal diagnoses on chorionic villus samples; five were female and 11 male. Four were uninformative three healthy and one affected male fetus were recognized by PCR techniques, two healthy and one affected fetus by Southern analysis. In three pregnant women examined for the first time during pregnancy, the PCR technique allowed us to perform a rapid diagnosis of noncarrier status, avoiding the fetal sampling procedures.