Prenatal diagnosis of congenital gastric outlet obstruction.

abstract：:Fourteen cases of Turner syndrome (45,X), two cases of mosaic Turner syndrome (45,X/47,XXX and 45,X/ 46,XX), and one case of Turner syndrome involving an isochromosome X [46,X,i(X)(q10)] were ascertained by prenatal maternal serum alpha-fetoprotein (MSAFP) and free beta human chorionic gonadotropin (hCG) screening or ...

journal_title：Prenatal diagnosis

authors： Laundon CH,Spencer K,Macri JN,Anderson RW,Buchanan PD

更新日期：1996-09-01 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：:A cytogenetic survey and follow-up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12,699 prenatal samples, investigated at our institution over a 10-year period from 1980 to 1990. FISH (fluorescence in situ hybridization) techniques were employed to identify the chromosomal origi...

journal_title：Prenatal diagnosis

authors： Brøndum-Nielsen K,Mikkelsen M

更新日期：1995-07-01 00:00:00

abstract：:This paper examines the association between fetal choroid plexus cysts (CPCs) and trisomy 18 and proposes a method by which risks can be derived taking into account both sonographic findings and maternal age. Data from our centre on the sonographic findings of 58 fetuses with trisomy 18 and 387 fetuses with CPCs as we...

journal_title：Prenatal diagnosis

authors： Snijders RJ,Shawa L,Nicolaides KH

更新日期：1994-12-01 00:00:00

abstract：BACKGROUND:Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although biometric measurements of the posterior fossa (PF) are established on fetal ultrasound and MRI, qualitative visual assessments are predomina...

journal_title：Prenatal diagnosis

authors： Mckinnon K,Kendall GS,Tann CJ,Dyet L,Sokolska M,Baruteau KP,Marlow N,Robertson NJ,Peebles D,Srinivasan L

更新日期：2020-11-29 00:00:00

abstract：:Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybridization (FISH) was ...

journal_title：Prenatal diagnosis

authors： Mowery-Rushton PA,Stadler MP,Kochmar SJ,McPherson E,Surti U,Hogge WA

更新日期：1997-03-01 00:00:00

abstract：BACKGROUND:Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to evaluate the pregnancy outcomes in SL cases and to establish a protocol for pr...

journal_title：Prenatal diagnosis

authors： Govaerts L,Srebniak M,Diderich K,Joosten M,Riedijk S,Knapen M,Go A,Papatsonis D,de Graaf K,Toolenaar T,van der Steen S,Huijbregts G,Knijnenburg J,de Vries F,Van Opstal D,Galjaard RJ

更新日期：2017-01-01 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 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 individuals, the affected...

journal_title：Prenatal diagnosis

authors： Nielsen JE,Koefoed P,Kjaergaard S,Jensen LN,Nørremølle A,Hasholt L

更新日期：2004-05-01 00:00:00

abstract：:Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prena...

journal_title：Prenatal diagnosis

authors： Best S,Wou K,Vora N,Van der Veyver IB,Wapner R,Chitty LS

更新日期：2018-01-01 00:00:00

abstract：OBJECTIVE:Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. However, the current prevalence of carrier status for these conditions in developing countries is not well defined. This study assesses the prevalence of carrier...

journal_title：Prenatal diagnosis

authors： Hernandez-Nieto C,Alkon-Meadows T,Lee J,Cacchione T,Iyune-Cojab E,Garza-Galvan M,Luna-Rojas M,Copperman AB,Sandler B

更新日期：2020-04-01 00:00:00

abstract：:Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype--46,XX/46,XX,-14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Se...

journal_title：Prenatal diagnosis

authors： Lambert I,Kemp J,Jackson J,Joyce H,Mann S,Kan A,Smith A

更新日期：1994-06-01 00:00:00

abstract：OBJECTIVES:To identify expressed sequence tag (EST) clusters preferentially expressed in placentas. METHODS:The National Center for Biotechnology's online UniGene database contains 14 placenta libraries. In silico (computer-based) subtraction compared placenta libraries against the remaining libraries to identify tran...

journal_title：Prenatal diagnosis

authors： Miner D,Rajkovic A

更新日期：2003-05-01 00:00:00

abstract：OBJECTIVE:To determine how parents of children with intellectual disabilities view prenatal testing and pregnancy termination for their child's condition. METHOD:We interviewed 201 English-speaking or Spanish-speaking caregivers of children aged 2 to 10 years. Primary outcomes were being disinclined to undergo prenata...

journal_title：Prenatal diagnosis

authors： Kuppermann M,Nakagawa S,Cohen SR,Dominguez-Pareto I,Shaffer BL,Holloway SD

更新日期：2011-12-01 00:00:00

abstract：OBJECTIVES:To investigate if systemic hypertension occurs in fetuses with twin-to-twin transfusion syndrome (TTTS). METHODS:We conducted an observational cohort study in a tertiary care centre in 23 pregnant women with TTTS. Polyhydramnios stuck twin sequence occurred at a median gestational age of 22 weeks (range 15-...

journal_title：Prenatal diagnosis

authors： Mahieu-Caputo D,Salomon LJ,Le Bidois J,Fermont L,Brunhes A,Jouvet P,Dumez Y,Dommergues M

更新日期：2003-08-01 00:00:00

abstract：:The purpose of our study was to assess the influence of intra-uterine insemination (IUI) on the results of maternal serum Down syndrome screening. 43 women with IUI pregnancies and 4507 healthy women who conceived were studied. Ovulation in IUI pregnancies was induced by clomiphene and/or human menopausal gonadotrophi...

journal_title：Prenatal diagnosis

authors： Hsu TY,Ou CY,Hsu JJ,Kung FT,Chang SY,Soong YK

更新日期：1999-11-01 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：:Fetomaternal haemorrhage (FMH) was studied after 46 cordocenteses. alpha-Fetoprotein (AFP) concentration and Kleihauer staining of maternal blood, taken both before and after the procedure, revealed increases in AFP values of more than 40 per cent in 30 per cent of the patients examined; fetal haemorrhage of more than...

journal_title：Prenatal diagnosis

authors： Van Selm M,Kanhai HH,Van Loon AJ

更新日期：1995-04-01 00:00:00

abstract：:Fetal pleural effusion, a nonspecific accumulation of fluid in the pleural space, is an uncommon anomaly which can be associated with aneuploidy and a range of other structural malformations or genetic syndromes. Spontaneous resolution is not rare and confers a good prognosis. Perinatal outcome is better for those fet...

journal_title：Prenatal diagnosis

authors： Rustico MA,Lanna M,Coviello D,Smoleniec J,Nicolini U

更新日期：2007-09-01 00:00:00

abstract：OBJECTIVES:To display and compare the different published formulae that specify the association between maternal age and the risk of a Down syndrome live birth. METHODS:Papers published since 1987 on the prevalence of Down syndrome live births in relation to maternal age were located using MEDLINE and the references g...

journal_title：Prenatal diagnosis

authors： Morris JK,Wald NJ,Mutton DE,Alberman E

更新日期：2003-03-01 00:00:00

abstract：OBJECTIVES:To explore the efficacy of contingent triple-screening for Down syndrome (DS), that is, performing triple-screening in pregnant women with DS risks between 1/270 and 1/1000 at routine double-screening, in a Mainland Chinese population. METHODS:Maternal serum concentrations of alpha fetoprotein (AFP), free-b...

journal_title：Prenatal diagnosis

authors： Xie Z,Lu S,Li H

更新日期：2010-01-01 00:00:00

abstract：:Multiple placental passes during chorionic villus sampling (CVS) increase the risk of fetal loss; however, specific factors that predispose to repeat aspiration have not been delineated. To identify anatomic and technical variables associated with multiple-pass procedures, a detailed review of 205 videotaped CVS proce...

journal_title：Prenatal diagnosis

authors： Silver RK,MacGregor SN,Hobart ED

更新日期：1992-03-01 00:00:00

abstract：OBJECTIVE:To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses. METHODS:A retrospective review of 470 patients referred to our unit for FR from January 2007-Ma...

journal_title：Prenatal diagnosis

authors： Rosner M,Pergament E,Andriole S,Gebb J,Dar P,Evans MI

更新日期：2013-10-01 00:00:00

abstract：OBJECTIVE:To determine the ability to assess the fetal anatomy and ultrasound screening markers using three-dimensional (3D) volumes acquired during the 11th to 13th  week scan, in relation to whether a fetal profile could be used as a starting section. METHODS:Post hoc analysis of 3D ultrasound volumes acquired at 11...

journal_title：Prenatal diagnosis

authors： Borrell A,Santolaya-Forgas J,Horbaczewski C,Henry RD,Dunn-Albanese L,Robinson JN

更新日期：2011-12-01 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：:Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structur...

journal_title：Prenatal diagnosis

authors： Bilardo CM,Timmerman E,Pajkrt E,van Maarle M

更新日期：2010-02-01 00:00:00

abstract：:Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a potentially devastating condition, which may lead to intracranial haemorrhage (ICH) in the fetus or neonate, often with death or major neurological damage as consequence. In the absence of screening, preventive measures are only possible in the next pregnancy...

journal_title：Prenatal diagnosis

authors： Kamphuis MM,Oepkes D

更新日期：2011-07-01 00:00:00

abstract：OBJECTIVE:We sought to compare the fetal nasal bone length (FNBL) between different ethnic groups at 11-14 weeks' gestation. METHODS:FNBL and the FNBL/CRL ratio were measured in patients undergoing first trimester ultrasound for nuchal translucency (NT) and the ethnicity of the patient was recorded under four categori...

journal_title：Prenatal diagnosis

authors： Collado F,Bombard A,Li V,Julliard K,Aptekar L,Weiner Z

更新日期：2005-08-01 00:00:00

abstract：OBJECTIVE:Whole-genome sequencing of circulating cell free (ccf) DNA from maternal plasma has enabled noninvasive prenatal testing for common autosomal aneuploidies. The purpose of this study was to extend the detection to include common sex chromosome aneuploidies (SCAs): [47,XXX], [45,X], [47,XXY], and [47,XYY] syndr...

journal_title：Prenatal diagnosis

authors： Mazloom AR,Džakula Ž,Oeth P,Wang H,Jensen T,Tynan J,McCullough R,Saldivar JS,Ehrich M,van den Boom D,Bombard AT,Maeder M,McLennan G,Meschino W,Palomaki GE,Canick JA,Deciu C

更新日期：2013-06-01 00:00:00

abstract：:Between February 1994 and February 1997 a group of 881 women completed a questionnaire on the use of folic acid. During the study period the percentage of women who had been informed about the benefits of folic acid rose from 41 per cent to 90 per cent and the percentage taking supplementation rose from 18 per cent to...

journal_title：Prenatal diagnosis

authors： Brandenburg H,Traas MA,Laudy J,Ursem N,Westerveld AM,Wladimiroff JW

更新日期：1999-02-01 00:00:00