Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype.

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：OBJECTIVE:The aim of this study was to compare the levels of maternal serum placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) between pregnancies with fetal hemoglobin (Hb) Bart's disease and unaffected pregnancies. METHODS:Ninety-one pregnancies at risk for fetal Hb Bart's disease schedul...

journal_title：Prenatal diagnosis

authors： Tongprasert F,Srisupundit K,Luewan S,Tongsong T

更新日期：2013-12-01 00:00:00

abstract：:There are now several DNA probes which localize the cystic fibrosis mutation (CF) to chromosome 7q2.2-q3.1. The most tightly linked probes, pJ3.11 and met, are useful for first trimester prenatal diagnosis for many families provided that there is at least one living child affected by CF (Farrall et al., 1986). We desc...

journal_title：Prenatal diagnosis

authors： Law HY,Stanier P,Williamson R,Modell B,Ward RH,Petrou M,Old J,Farrall M

更新日期：1987-03-01 00:00:00

abstract：:Retinoblastoma susceptibility is an autosomal dominantly inherited cancer predisposition which also confers a life-long increased risk for various non-ocular malignancies. We developed a protocol for single cell detection of this disorder which enables its preimplantation genetic diagnosis as an alternative to prenata...

journal_title：Prenatal diagnosis

authors： Sütterlin M,Sleiman PA,Onadim Z,Delhanty J

更新日期：1999-12-01 00:00:00

abstract：:Two consecutive pregnancies in a woman with initially undiagnosed type I distal arthrogryposis (DA) are reported. A prenatal diagnosis of the condition was made by ultrasound in the 17th week of gestation in one of the pregnancies, whereas in the subsequent pregnancy the disorder was excluded as early as 13 weeks' ges...

journal_title：Prenatal diagnosis

authors： Bui TH,Lindholm H,Demir N,Thomassen P

更新日期：1992-12-01 00:00:00

abstract：:A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosi...

journal_title：Prenatal diagnosis

authors： Romain M,Awoust J,Dugauquier C,Van Maldergem L

更新日期：1999-08-01 00:00:00

abstract：OBJECTIVES:To assess the effect of altering image size on the absolute nuchal translucency (NT) measurement. METHODS:NT was measured at three image magnifications (60%, 100% and 200%) in 120 singleton pregnancies. RESULTS:The mean +/- SD NT measurements were 1.52 +/- 0.57 mm, 1.35 +/- 0.53 mm and 1.18 +/- 0.48 mm at ...

journal_title：Prenatal diagnosis

authors： Edwards A,Mulvey S,Wallace EM

更新日期：2003-04-01 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

abstract：OBJECTIVES:Amniotic fluid stem cells (AFSCs) are derived from the amniotic fluid of the developing fetus and can give rise to diverse differentiated cells of ectoderm, mesoderm, and endoderm lineages. Intrauterine transplantation is an approach used to cure inherited genetic fetal defects during the gestation period of...

journal_title：Prenatal diagnosis

authors： Peng SY,Chen YH,Chou CJ,Wang YH,Lee HM,Cheng WT,Shaw SW,Wu SC

更新日期：2014-05-01 00:00:00

abstract：OBJECTIVE:N-Acetyltransferase 2 (NAT2) is a phase II xenobiotic-metabolizing enzyme participating in the detoxification of toxic arylamines and aromatic amines. The present study was designed to investigate whether maternal NAT2 genetic polymorphisms are associated with fetal susceptibility to congenital heart diseases...

journal_title：Prenatal diagnosis

authors： Tao J,Li N,Liu Z,Qiu J,Deng Y,Li X,Chen M,Yu J,Zhu J,Yu P,Wang Y

更新日期：2019-10-01 00:00:00

abstract：OBJECTIVES:To assess the prenatal ultrasound detection rates (DR) of neural tube defects (NTDs) and its evolution over the 1992 to 2006 period in the pregnant population of the city of Barcelona. METHODS:Data on the population-based register of birth defects were used to assess the evolution of the prenatal DR for iso...

journal_title：Prenatal diagnosis

authors： Salvador J,Arigita M,Carreras E,Lladonosa A,Borrell A

更新日期：2011-12-01 00:00:00

abstract：:The use of prenatal ultrasound has proven efficacious for the prenatal diagnosis of chromosomal abnormalities. The first sonographic sign of Down syndrome, the thickened nuchal fold, was first described in 1985. Since that time, multiple sonographically-identified markers have been described as associated with Down sy...

journal_title：Prenatal diagnosis

authors： Shipp TD,Benacerraf BR

更新日期：2002-04-01 00:00:00

abstract：:We report one case of de novo complex chromosomal rearrangement (CCR) t(2q;3p;4q;13q) with at least five chromosomal breakpoints. This CCR was detected prenatally at 22 weeks of gestation, when mild echographic indications were disclosed during a routine examination in a female with no family history of congenital abn...

journal_title：Prenatal diagnosis

authors： Mercier S,Fellmann F,Cattin J,Bresson JL

更新日期：1996-11-01 00:00:00

abstract：:A case of focal nodular hyperplasia of the liver presenting in a 36-week-old fetus is reported. The tumour appeared on antenatal ultrasound as a 4.0 cm x 3.0 cm x 2.7 cm hypoechoic mass at the periphery of the right lobe of the liver. Colour Doppler imaging showed it to have prominent vascularity. Postnatally, sonogra...

journal_title：Prenatal diagnosis

authors： Petrikovsky BM,Cohen HL,Scimeca P,Bellucci E

更新日期：1994-05-01 00:00:00

abstract：OBJECTIVES:Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently, there is debate about the most appropriate invasive method. We sough...

journal_title：Prenatal diagnosis

authors： Grati FR,Bajaj K,Malvestiti F,Agrati C,Grimi B,Malvestiti B,Pompilii E,Maggi F,Gross S,Simoni G,Ferreira JC

更新日期：2015-10-01 00:00:00

abstract：OBJECTIVES:The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark. METHODS:Fetuses and infants diagnosed with CHD in the period 01.01.2008-31.12.2010 were assessed regarding prenatal detectio...

journal_title：Prenatal diagnosis

authors： Jørgensen DE,Vejlstrup N,Jørgensen C,Maroun LL,Steensberg J,Hessellund A,Jørgensen FS,Larsen T,Shalmi AC,Skibsted L,Zingenberg H,Ekelund C,Tabor A

更新日期：2015-04-01 00:00:00

abstract：OBJECTIVE:To test the hypothesis that free fetal DNA (ffDNA) circulating in maternal plasma originates mainly from the placenta we studied ffDNA levels in anembryonic pregnancies. METHODS:Maternal blood samples were collected from 15 normal first-trimester pregnancies in which fetal sex was subsequently determined and...

journal_title：Prenatal diagnosis

authors： Alberry M,Maddocks D,Jones M,Abdel Hadi M,Abdel-Fattah S,Avent N,Soothill PW

更新日期：2007-05-01 00:00:00

abstract：OBJECTIVE:Advances in prenatal genetics place additional challenges as patients must receive information about a growing array of screening and testing options. This raises concerns about how to achieve a shared decision-making process that prepares patients to make an informed decision about their choices about prenat...

journal_title：Prenatal diagnosis

authors： Farrell RM,Pierce M,Collart C,Edmonds BT,Chien E,Coleridge M,Rose SL,Perni U,Frankel R

更新日期：2020-09-01 00:00:00

abstract：OBJECTIVE:Fetoscopic endoluminal tracheal occlusion (FETO) may improve outcome of severe isolated congenital diaphragmatic hernia (iCDH). We aimed to identify any discrepancy between initial assessment at the referring hospital and the evaluation at the fetal surgery center, and to document parental decisions following...

journal_title：Prenatal diagnosis

authors： Done E,Gucciardo L,Van Mieghem T,Devriendt K,Allegaert K,Brady P,Devlieger R,De Catte L,Lewi L,Deprest J

更新日期：2017-09-01 00:00:00

abstract：:A method is described which uses the Hind III polymorphism in intron 19 of the factor VIII gene for genomic family analysis and prenatal diagnosis by the polymerase chain reaction. The primers derived from the exon 19 and 20 sequences allow amplification of the whole intron 19 resulting in a 730 bp fragment. Hind III ...

journal_title：Prenatal diagnosis

authors： Wehnert M,Shukova EL,Surin VL,Schröder W,Solovjev GYa,Herrmann FH

更新日期：1990-08-01 00:00:00

abstract：:Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 20p and monosomy 4...

journal_title：Prenatal diagnosis

authors： Vamos E,Pratola D,Van Regemorter N,Freund M,Flament-Durand J,Rodesch F

更新日期：1985-05-01 00:00:00

abstract：:Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3.91 at theta = 0). In a family in w...

journal_title：Prenatal diagnosis

authors： Zlotogora J,Granat M,Knowlton RG

更新日期：1994-02-01 00:00:00

abstract：:We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family. The first one on amniotic cells, the second one...

journal_title：Prenatal diagnosis

authors： Besançon AM,Belon JP,Castelnau L,Dumez Y,Poenaru L

更新日期：1984-09-01 00:00:00

abstract：OBJECTIVE:Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated cardiomyopathy (DCM) ± endocardial fibroelastosis (EFE) ± left ventricular non-compaction (LVNC)], proximal myopathy, feeding problems, growth retardation, neutro...

journal_title：Prenatal diagnosis

authors： Steward CG,Newbury-Ecob RA,Hastings R,Smithson SF,Tsai-Goodman B,Quarrell OW,Kulik W,Wanders R,Pennock M,Williams M,Cresswell JL,Gonzalez IL,Brennan P

更新日期：2010-10-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to determine whether fetal nucleated red blood cells (NRBCs) could be distinguished from maternal cells in peripheral blood using an erythroblast scoring system based on the unique morphological and hemoglobin staining characteristics of this cell type. Presumptive fetal NRBCs were f...

journal_title：Prenatal diagnosis

authors： Cha DH,Khosrotehrani K,Bianchi DW,Johnson KL

更新日期：2005-07-01 00:00:00

abstract：:An extra small chromosome detected in amniotic fluid was identified as the product of a translocation [46,XX,t(9;15)(p24;q11.2)]. This case is unusual in that individuals with the unbalanced karyotype resulting from a 3:1 disjunction are phenotypically normal. ...

journal_title：Prenatal diagnosis

authors： Winsor EJ,Van Allen MI

更新日期：1989-12-01 00:00:00

abstract：:Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to i...

journal_title：Prenatal diagnosis

authors： Delatycki MB,Alkuraya F,Archibald A,Castellani C,Cornel M,Grody WW,Henneman L,Ioannides AS,Kirk E,Laing N,Lucassen A,Massie J,Schuurmans J,Thong MK,van Langen I,Zlotogora J

更新日期：2020-02-01 00:00:00

abstract：:Despite efforts at prevention through the use of preconception folic acid, spina bifida remains one of the most common congenital anomalies of the central nervous system that is compatible with life. It is, however, associated with a significant degree of lifelong morbidity. The development of open fetal surgery for m...

journal_title：Prenatal diagnosis

authors： Bebbington MW,Danzer E,Johnson MP,Adzick NS

更新日期：2011-07-01 00:00:00

abstract：BACKGROUND:The azoospermic factor (AZF) region is critical for normal spermatogenesis since microdeletions and partial deletions have been associated with infertility. We investigate the diagnostic ability of karyotyping in detecting clinically relevant Y chromosome deletions. The clinical significance of heterochromat...

journal_title：Prenatal diagnosis

authors： Minor A,Wong EC,Harmer K,Ma S

更新日期：2007-08-01 00:00:00

abstract：:Among 1041 pregnancies 13 twin gestations were detected by routine ultrasonography prior to genetic amniocentesis at the Department of Prenatal Physiopathology of the University of Bologna. Clear amniotic fluid from both sacs was obtained in 12 of 13 sets of twins. All 12 sets were cytogenetically normal with normal l...

journal_title：Prenatal diagnosis

authors： Bovicelli L,Michelacci L,Rizzo N,Orsini LF,Pilu G,Montacuti V,Bacchetta M,Pittalis MC

更新日期：1983-04-01 00:00:00