Prenatal diagnosis of a partial 6q trisomy: a case report.

abstract：:Second trimester amniotic fluid fibrinolytic system was examined in normal pregnancies and those complicated by anencephaly, spina bifida and fetal chromosome abnormalities. No significant difference was demonstrated between the fibrinolytic systems from normal pregnancies and those complicated by fetal chromosome abn...

journal_title：Prenatal diagnosis

authors： Legge M

更新日期：1983-04-01 00:00:00

abstract：:We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal...

journal_title：Prenatal diagnosis

authors： Webb AL,Sturgiss S,Warwicker P,Robson SC,Goodship JA,Wolstenholme J

更新日期：1996-10-01 00:00:00

abstract：:Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th wee...

journal_title：Prenatal diagnosis

authors： Winter R,Rosenkranz W,Hofmann H,Zierler H,Becker H,Borkenstein M

更新日期：1985-01-01 00:00:00

abstract：OBJECTIVES:Prenatal diagnosis by ultrasound of fetal polymicrogyria has been reported only once. METHODS:We describe an additional case of polymicrogyria in a fetus from a monozygotic twin pair, probably the consequence of twin-to-twin transfusion syndrome. RESULTS:On ultrasound, there were bilateral cortical hyperec...

journal_title：Prenatal diagnosis

authors： Delle Urban LA,Righini A,Rustico M,Triulzi F,Nicolini U

更新日期：2004-10-01 00:00:00

abstract：:We have developed a two-colour immunocytochemical staining method for the detection of fetal and embryonic haemoglobin in erythroid cells. The method was applied to study these haemoglobin types in fetal red cells. Specimens from fetal blood (10 weeks), cord blood and fetal liver (14 weeks) as well as chorionic villus...

journal_title：Prenatal diagnosis

authors： Mesker WE,Ouwerkerk-van Velzen MC,Oosterwijk JC,Bernini LF,Golbus MS,Kanhai HH,Van Ommen GJ,Tanke HJ

更新日期：1998-11-01 00:00:00

abstract：:A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neon...

journal_title：Prenatal diagnosis

authors： Viljoen DL,Jaquire Z,Woods DL

更新日期：1991-03-01 00:00:00

abstract：:Arthrogryposis multiplex congenita (AMC) refers to an aetiologically heterogenous condition, which consists of joint contractures affecting two or more joints starting prenatally. The incidence is approximately one in 3000 live births; however, the prenatal incidence is higher, indicating a high intrauterine mortality...

journal_title：Prenatal diagnosis

authors： Niles KM,Blaser S,Shannon P,Chitayat D

更新日期：2019-08-01 00:00:00

abstract：OBJECTIVE:To test the hypothesis that the age-related increase in the birth prevalence of Down syndrome is less for women with higher levels of education due to their more frequent use of prenatal diagnosis. METHODS:We compared the effects of maternal age on the odds of Down syndrome at birth, and on amniocentesis use...

journal_title：Prenatal diagnosis

authors： Khoshnood B,Wall S,Pryde P,Lee KS

更新日期：2004-02-01 00:00:00

abstract：:Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male...

journal_title：Prenatal diagnosis

authors： Bruch JF,Metezeau P,Garcia-Fonknechten N,Richard Y,Tricottet V,Hsi BL,Kitzis A,Julien C,Papiernik E

更新日期：1991-10-01 00:00:00

abstract：OBJECTIVE:To determine the visualization rates of fetal anatomic structures by three-dimensional ultrasound (3DUS) at 12-13 weeks of gestation. STUDY DESIGN:This was a prospective observational study of women presenting for nuchal translucency ultrasound. Five 3D volumes of the fetus were acquired transabdominally. Tw...

journal_title：Prenatal diagnosis

authors： Bhaduri M,Fong K,Toi A,Tomlinson G,Okun N

更新日期：2010-03-01 00:00:00

abstract：OBJECTIVE:To describe the prognosis of subtle findings on fetal brain imaging in pregnant women with primary CMV infection during pregnancy. METHODS:This was a retrospective study. The data included: timing of infection, amniocentesis results, imaging findings, obstetric outcome, and developmental assessment. RESULTS...

journal_title：Prenatal diagnosis

authors： Roee B,Adi W,Michael B,Igal W,Karina KH,Liat BS,Gustavo M

更新日期：2020-03-01 00:00:00

abstract：:In order to investigate whether systemic arteriovenous fistula occurring during the fetal period could induce pulmonary hypertension at birth, a fistula was surgically created between the carotid artery and jugular vein of fetal lambs at 120 days' gestation. Mean pressures in the left pulmonary artery, aorta, atrium a...

journal_title：Prenatal diagnosis

authors： Jouannic JM,Martinovic J,Roussin R,Laborde F,Dumez Y,Dinh-Xuan AT

更新日期：2002-01-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to assess the effect of fetal sex on the accuracy of multiple formulas for sonographic estimation fetal weight (SEFW). METHODS:The cohort included all singleton live births recorded at a single medical center from January 2004 to September 2011. The accuracy of SEFW was compared bet...

journal_title：Prenatal diagnosis

authors： Barel O,Maymon R,Barak U,Smorgick N,Tovbin J,Vaknin Z

更新日期：2014-12-01 00:00:00

abstract：:The pregnancy outcome of 1936 women who had transcervical chorionic villus sampling (CVS) with a flexible biopsy forceps was evaluated. Follow-up until 4 weeks after delivery was 99.4 per cent. Various patient- and procedure-related risk factors for spontaneous loss (fetal or neonatal death) were analysed using stepwi...

journal_title：Prenatal diagnosis

authors： Lunshof S,Boer K,Leschot NJ,Pomp M,Wolf H

更新日期：1995-09-01 00:00:00

abstract：:We present a family who sought prenatal diagnosis in order to bear a healthy child to serve as an HLA-identical bone marrow donor for their son affected with Wiskott-Aldrich syndrome. They intended to abort HLA-incompatible fetuses who would have been unsuitable bone marrow donors. This case led us to conclude that pr...

journal_title：Prenatal diagnosis

authors： Clark RD,Fletcher J,Petersen G

更新日期：1989-05-01 00:00:00

abstract：OBJECTIVE:The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using the chromosomal microarray analysis (CMA) for fetuses presenting with isolated or associated intrauterine growth restriction (IUGR). METHOD:We retrospectively included all fetuses with IUGR referred for prenatal testing a...

journal_title：Prenatal diagnosis

authors： Brun S,Pennamen P,Mattuizzi A,Coatleven F,Vuillaume ML,Lacombe D,Arveiler B,Toutain J,Rooryck C

更新日期：2018-12-01 00:00:00

abstract：OBJECTIVE:The discovery of placental transcripts in peripheral blood of pregnant women prompted us to investigate which was the most appropriate biological specimen, between plasma and serum, to easily detect them and to exploit hPL (human placental lactogen), betahCG (human chorionic gonadotrophin beta-subunit), LOC90...

journal_title：Prenatal diagnosis

authors： Picchiassi E,Coata G,Centra M,Pennacchi L,Bini V,Di Renzo GC

更新日期：2010-08-01 00:00:00

abstract：OBJECTIVE:Are first trimester serum pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and crown-rump length (CRL) prognostic factors for adverse pregnancy outcomes? METHOD:Retrospective cohort, women, singleton pregnancies (UK 2011-2015). Unadjusted and multivariable logistic regression. OUTCOM...

journal_title：Prenatal diagnosis

authors： Bilagi A,Burke DL,Riley RD,Mills I,Kilby MD,Katie Morris R

更新日期：2017-07-01 00:00:00

abstract：:Enlargement of the subarachnoid spaces can be seen in the following conditions: communicating hydrocephalus, brain atrophy and benign enlargement of the subarachnoid spaces. These disorders may begin in utero. There are no established normograms for the fetal subarachnoid spaces. This study was conducted in order to d...

journal_title：Prenatal diagnosis

authors： Malinger G,Lerman-Sagie T,Achiron R,Lipitz S

更新日期：2000-11-01 00:00:00

abstract：:A case of early diagnosis at 13 weeks' gestational age of Meckel-Gruber syndrome by ultrasound is reported in a patient with a 25 per cent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed. ...

journal_title：Prenatal diagnosis

authors： Pachì A,Giancotti A,Torcia F,de Prosperi V,Maggi E

更新日期：1989-03-01 00:00:00

abstract：:Maternal serum free beta (hCG) levels are elevated (median 2.20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta an...

journal_title：Prenatal diagnosis

authors： Macri JN,Spencer K,Aitken D,Garver K,Buchanan PD,Muller F,Boue A

更新日期：1993-07-01 00:00:00

abstract：:We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aber...

journal_title：Prenatal diagnosis

authors： Markus-Bustani K,Yaron Y,Goldstein M,Orr-Urtreger A,Ben-Shachar S

更新日期：2012-11-01 00:00:00

abstract：:Osteogenesis imperfecta (OI) Type II was diagnosed accurately in an at-risk fetus at 16 weeks gestation by real-time sonography. The most important findings were shortening, deformity and possibly fracture in the long bones particularly the femurs. Ultrasonic visualization of these signs in a fetus at risk will provid...

journal_title：Prenatal diagnosis

authors： Ghosh A,Woo JS,Wan CW,Wong VC

更新日期：1984-05-01 00:00:00

abstract：:We describe a fetus with a hypoplastic right ventricle detected by prenatal ultrasound examination. A possible causal relationship with prenatal valproate exposure is discussed. ...

journal_title：Prenatal diagnosis

authors： ten Berg K,van Oppen AC,Nikkels PG,Gittenberger-de Groot AC,van der Voet GB,Brilstra EH,Lindhout D

更新日期：2005-02-01 00:00:00

abstract：:Experimental materno-embryonic transfusions with serum that is immunologically active against blood group antigens cause congenital malformations in the rat embryo. In view of the possible increased incidence of vascular disruptive syndromes after chorionic villus sampling (CVS), we investigated the occurrence of mate...

journal_title：Prenatal diagnosis

authors： Los FJ,Noomen P,Vermeij-Keers C,Gaillard JL,Brandenburg H,Jahoda MG,Luider TM

更新日期：1996-03-01 00:00:00

abstract：:Glutamic-oxaloacetic transaminase (GOT1) gene dosage studies were performed on uncultured amniotic cells from a fetus at risk for duplication/deficiency of 10q24 leads to qter, due to maternal translocation t(9;10)(p24;q24). Previous investigations in the same pedigree had shown triplex dosage effect of GOT1 on red bl...

journal_title：Prenatal diagnosis

authors： Dallapiccola B,Novelli G,Micara G,Ferranti G,Pachi A,Magnani M

更新日期：1983-10-01 00:00:00

abstract：:FISH analysis of uncultured interphase amniotic fluid cells from a male fetus revealed two signals using an alpha-satellite X-chromosome DNA probe. One of the signals was much smaller than the other. It was subsequently shown that the normal sized signal was located on the X chromosome and the smaller signal was locat...

journal_title：Prenatal diagnosis

authors： Winsor EJ,Dyack S,Wood-Burgess EM,Ryan G

更新日期：1999-09-01 00:00:00

abstract：:Cervical teratomas are rare tumours which are the result of abnormal prenatal development. They are usually detected at birth, but can occasionally remain silent until adulthood. Obstruction of the airway is the major challenge in the neonatal period. Prenatal diagnosis allows for early consultation with paediatric su...

journal_title：Prenatal diagnosis

authors： Kerner B,Flaum E,Mathews H,Carlson DE,Pepkowitz SH,Hixon H,Graham JM Jr

更新日期：1998-01-01 00:00:00

abstract：:A single base substitution in exon 10 of the glucocerebrosidase gene was detected in families affected by Gaucher disease (GD) type III. This mutation, which results in the substitution of proline for leucine in position 444 of glucocerebrosidase, has been shown to result in type III GD in a Swedish population. Three ...

journal_title：Prenatal diagnosis

authors： Dahl N,Wadelius C,Annerén G,Gustavson KH

更新日期：1992-07-01 00:00:00

abstract：OBJECTIVE:To conduct an audit of the practice of feticide in second- and third-trimester termination of pregnancy for fetal anomalies (TOPFA) in prenatal diagnosis (PD) centers in France. RESULTS:A questionnaire was sent out to the 49 French PD centers and completed by 39/49 centers; 5350 TOPFAs were performed. The ge...

journal_title：Prenatal diagnosis

authors： Maurice P,Letourneau A,Benachi A,Jouannic JM

更新日期：2019-12-01 00:00:00