Prenatal diagnosis of beta-thalassaemia and other haemoglobinopathies in India.

abstract：:Twelve second-trimester fetuses with cystic hygroma underwent fetal blood sampling for rapid karyotyping, haematologic evaluation, and blood gas analysis. An abnormal karyotype was found in seven cases: monosomy X in five, trisomy 21 in one, and trisomy 13 in the other. Eight of ten fetuses undergoing blood gas analys...

journal_title：Prenatal diagnosis

authors： Tannirandorn Y,Nicolini U,Nicolaidis PC,Fisk NM,Arulkumaran S,Rodeck CH

更新日期：1990-03-01 00:00:00

abstract：:Exomphalos affects approximately 3 in 10,000 births and can arise from a number of developmental insults. The clinical outcome is dependent upon the associated structural and chromosomal anomalies and the gestation at delivery. Accurate antenatal ultrasound diagnosis and karyotyping are important and allow informed pr...

journal_title：Prenatal diagnosis

authors： Kilby MD,Lander A,Usher-Somers M

更新日期：1998-12-01 00:00:00

abstract：OBJECTIVE:To present the results of 10 years of quantitative fluorescence PCR (QF-PCR) analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This represents the largest QF-PCR data set from a single testing centre. METHODS:QF-PCR analysis using a single assay containing 17 microsatellite mar...

journal_title：Prenatal diagnosis

authors： Mann K,Hills A,Donaghue C,Thomas H,Ogilvie CM

更新日期：2012-12-01 00:00:00

abstract：OBJECTIVE:This study aimed to detect genomic imbalances in fetuses with congenital heart defect (CHD) by high-resolution single-nucleotide polymorphism (SNP) array. METHODS:A total of 99 fetuses with CHDs with or without other ultrasound anomalies (including structural anomalies and soft markers) but normal karyotypes...

journal_title：Prenatal diagnosis

authors： Liao C,Li R,Fu F,Xie G,Zhang Y,Pan M,Li J,Li D

更新日期：2014-09-01 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：OBJECTIVES:To assess incidence and volume of fetomaternal hemorrhage (FMH) after chorionic villus sampling (CVS) by Kleihauer Betke test (KBT) and rise in maternal protein (MSAFP). METHODS:A prospective study was conducted on 61 cases requiring CVS. FMH due to CVS was assessed by KBT and MSAFP. RESULTS:Out of 61 case...

journal_title：Prenatal diagnosis

authors： Katiyar R,Kriplani A,Agarwal N,Bhatla N,Kabra M

更新日期：2007-02-01 00:00:00

abstract：OBJECTIVES:(1) Assess sensitivity of the measurement of nuchal translucency (NT), for the prenatal screening of congenital heart defect (CHD) on population-based data; (2) examine whether the sensitivity of NT varies for specific types of cardiac defects. METHODS:Using population-based data of the Paris Registry of Co...

journal_title：Prenatal diagnosis

authors： Jouannic JM,Thieulin AC,Bonnet D,Houyel L,Lelong N,Goffinet F,Khoshnood B

更新日期：2011-12-01 00:00:00

abstract：:Trophoblast cells can be detected in maternal blood during normal human pregnancy and DNA from these cells may be used for non-invasive prenatal diagnosis of inherited diseases. The possibility of enriching trophoblast cells from maternal blood samples using a monoclonal antibody (LK26) against a folate-binding protei...

journal_title：Prenatal diagnosis

authors： Hviid TV,Sørensen S,Morling N

更新日期：1999-03-01 00:00:00

abstract：OBJECTIVE:To evaluate the association between ultrasonographic renal parameters and urine biochemistry in fetuses with lower urinary tract obstruction (LUTO). METHODS:Data were collected prospectively from 31 consecutive fetuses with LUTO that underwent vesicocentesis for fetal urinary biochemistry between April 2013 ...

journal_title：Prenatal diagnosis

authors： Nassr AA,Koh CK,Shamshirsaz AA,Espinoza J,Sangi-Haghpeykar H,Sharhan D,Welty S,Angelo J,Roth D,Belfort MA,Braun M,Ruano R

更新日期：2016-12-01 00:00:00

abstract：:Published studies have reached varying conclusions as to the benefit of replacing human chorionic gonadotropin (hCG) measurements with the free beta-subunit of hCG (the free beta-subunit) for Down syndrome screening. One study reports 14 per cent higher detection for the free beta-subunit, while another finds an actua...

journal_title：Prenatal diagnosis

authors： Knight GJ,Palomaki GE,Neveux LM,Fodor KK,Haddow JE

更新日期：1998-03-01 00:00:00

abstract：:Our laboratory has received 1375 early amniotic fluid (EA) specimens during the past 5-year period for cytogenetics analysis. The gestational ages of the EA specimens were less than 14 weeks as estimated by ultrasound. The average volume of specimen received was 16 ml. Specimens were typically received in two collecti...

journal_title：Prenatal diagnosis

authors： Lockwood DH,Neu RL

更新日期：1993-09-01 00:00:00

abstract：OBJECTIVES:A case of prenatally diagnosed trisomy 11 mosaicism with a normal outcome is reported and the medical literature on prenatal detection of this finding is reviewed. METHODS:Proportion of cells with trisomy 11 was evaluated in amniocytes, fetal blood lymphocytes, newborn fibroblasts and urinary epithelial cel...

journal_title：Prenatal diagnosis

authors： Basel-Vanagaite L,Davidov B,Friedman J,Yeshaya Y,Magal N,Drasinover V,Shohat M

更新日期：2006-09-01 00:00:00

abstract：OBJECTIVE:To report a rare case of umbilical cord hemangioma and to discuss its association with vascular birthmarks. METHODS:A case of umbilical cord hemangioma diagnosed by ultrasound at 28 weeks of gestation is reported. After labor induction at 38 weeks of gestation, a male infant was born. Examination of the newb...

journal_title：Prenatal diagnosis

authors： Daniel-Spiegel E,Weiner E,Gimburg G,Shalev E

更新日期：2005-04-01 00:00:00

abstract：:To assess the influence of in vitro fertilization (IVF) on maternal serum human chorionic gonadotrophin (hCG) and alpha-fetoprotein (AFP), the maternal serum hCG and AFP values were studied in 67 IVF pregnancies and compared with the results of a control group of 4732 spontaneously conceiving patients. Maternal serum ...

journal_title：Prenatal diagnosis

authors： Ribbert LS,Kornman LH,De Wolf BT,Simons AH,Jansen CA,Beekhuis JR,Mantingh A

更新日期：1996-01-01 00:00:00

abstract：:Right pulmonary agenesis is a rare congenital malformation which results in secondary dextrocardia in situs solitus. Ipsilateral microtia in this context composes a laterality syndrome. The prenatal sonographic findings of this abnormality have not been previously reported. We describe the association of dextrocardia ...

journal_title：Prenatal diagnosis

authors： Maymon R,Schneider D,Hegesh J,Herman A,Weinraub Z,Achiron R

更新日期：2001-02-01 00:00:00

abstract：:Data from 3611 consecutive CVS (TC, N = 1780; TA, N = 1831) were analysed with emphasis put on influence of maternal and gestational age at CVS on the fetal loss rate less than 28 weeks. For TC-CVS the gestational age varied from 9.3-11.6 weeks, for TA-CVS from 9.3-20 weeks. Sampling efficacy at first attempt was 86.5...

journal_title：Prenatal diagnosis

authors： Jahoda MG,Brandenburg H,Reuss A,Cohen-Overbeek TE,Wladimiroff JW,Los FJ,Sachs ES

更新日期：1991-08-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to investigate how couples regard screening information and how they make subsequent decisions about undergoing prenatal screening for Down syndrome. METHODS:Twenty semi-structured interviews were conducted to explore aspects of the decision-making process. Interviews were digitally...

journal_title：Prenatal diagnosis

authors： Carroll FE,Owen-Smith A,Shaw A,Montgomery AA

更新日期：2012-01-01 00:00:00

abstract：:Few reports concerning intrauterine shunting are available. We investigated the impact of this method. In order to evaluate intrauterine shunting and the complication rate for different indications, we sent a questionnaire to all German-speaking level 3 centres. In four level 3 centres, 52 intrauterine catheters were ...

journal_title：Prenatal diagnosis

authors： Bernaschek G,Deutinger J,Hansmann M,Bald R,Holzgreve W,Bollmann R

更新日期：1994-09-01 00:00:00

abstract：OBJECTIVE:The aim of this study is to evaluate corpus callosum (CC) development by Magnetic Resonance Imaging (MRI) in late-onset intrauterine growth restricted (IUGR) fetuses compared to appropriate for gestational age and its association with neurobehavioral outcome. METHOD:One hundred and seventeen late-onset IUGR ...

journal_title：Prenatal diagnosis

authors： Egaña-Ugrinovic G,Sanz-Cortés M,Couve-Pérez C,Figueras F,Gratacós E

更新日期：2014-09-01 00:00:00

abstract：:Following the birth of a baby girl confirmed to be homozygous normal for the delta F508 deletion causing cystic fibrosis (CF), many single-gene defects have been diagnosed by polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD). A few misdiagnoses have been reported but no large-scale studies ha...

journal_title：Prenatal diagnosis

authors： Ray PF,Ao A,Taylor DM,Winston RM,Handyside AH

更新日期：1998-12-01 00:00:00

abstract：:The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1.5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0.2 per cent in the last 500. In the remaining 1477 ...

journal_title：Prenatal diagnosis

authors： Breed AS,Mantingh A,Beekhuis JR,Kloosterman MD,ten Bolscher H,Anders GJ

更新日期：1990-02-01 00:00:00

abstract：:Study of different tissues of an aborted female fetus showed similar levels of fragile-X expression (6.3-9.2 per cent) and of early replication of the FRAXA-positive cells (50-66 per cent) in fetal tissues. Different culture media did not significantly affect either investigation. It is suggested that the distribution...

journal_title：Prenatal diagnosis

authors： Webb T

更新日期：1991-05-01 00:00:00

abstract：OBJECTIVE:The objective of this study is to validate the diagnostic accuracy of a non-invasive prenatal test for detecting trisomies 13, 18, and 21 for a population in Germany and Switzerland. METHODS:Random massively parallel sequencing was applied using Illumina sequencing platform HiSeq2000. Fetal aneuploidies were...

journal_title：Prenatal diagnosis

authors： Stumm M,Entezami M,Haug K,Blank C,Wüstemann M,Schulze B,Raabe-Meyer G,Hempel M,Schelling M,Ostermayer E,Langer-Freitag S,Burkhardt T,Zimmermann R,Schleicher T,Weil B,Schöck U,Smerdka P,Grömminger S,Kumar Y,Hofmann W

更新日期：2014-02-01 00:00:00

abstract：:Single umbilical artery is among the most common funicular vascular anomalies. In contrast, umbilical artery stenosis is rare, and has only been reported in three-vessel cords. We describe a case of single umbilical artery stenosis in a fetus with no associated malformations. Intrauterine fetal death occurred at 28 we...

journal_title：Prenatal diagnosis

authors： Meir K,Yagel S,Amsalem H,Ariel I

更新日期：2002-03-01 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：: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：OBJECTIVE:Enrichment of circulating trophoblasts (CTs) from maternal blood at week 11-13 of gestation, using laminar microscale vortices, and evaluation of the performance of the VTX-1 Liquid Biopsy System in terms of CT recovery and purity. METHOD:Eight mililiter of blood was collected from 15 pregnant women and proc...

journal_title：Prenatal diagnosis

authors： Vander Plaetsen AS,Weymaere J,Tytgat O,Buyle M,Deforce D,Van Nieuwerburgh F

更新日期：2021-01-12 00:00:00

abstract：OBJECTIVES:Prenatal diagnosis of critical congenital heart disease, which requires surgical or catheter intervention in the first 30 days of life, allows for delivery at a specialized center and can reduce preoperative morbidity and mortality. We sought to identify the risk factors for a missed prenatal diagnosis of cr...

journal_title：Prenatal diagnosis

authors： Hill GD,Block JR,Tanem JB,Frommelt MA

更新日期：2015-09-01 00:00:00

abstract：:A study of the association between aneuploidy and fetal choroid plexus cysts (CPCs) is presented. By reviewing the world prospective and retrospective studies, one cannot reach an agreed conclusion since different study designs were used and meta analysis is not feasible. Our experience is that as a solitary ultrasono...

journal_title：Prenatal diagnosis

authors： Sharony R

更新日期：1997-06-01 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