Quantitative analysis of cellular fetal hemoglobin gamma chain messenger RNA (HbF-gamma mRNA) in maternal peripheral blood.

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：: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：BACKGROUND:Screening for trisomy 21 in the second trimester of pregnancy using biochemical markers is an established part of prenatal care in many developed countries. OBJECTIVE:The present study was aimed at determining the incidence of trisomy 21 and other chromosomal abnormalities in women undergoing prenatal chrom...

journal_title：Prenatal diagnosis

authors： Marical H,Douet-Guilbert N,Bages K,Collet M,Le Bris MJ,Morel F,De Braekeleer M

更新日期：2006-04-01 00:00:00

abstract：:Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening...

journal_title：Prenatal diagnosis

authors： Langford K,Hodgson S,Seller M,Maxwell D

更新日期：2000-08-01 00:00:00

abstract：OBJECTIVE:To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. METHODS:Fetuses with a confirmed diag...

journal_title：Prenatal diagnosis

authors： Chitty LS,Khalil A,Barrett AN,Pajkrt E,Griffin DR,Cole TJ

更新日期：2013-05-01 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：OBJECTIVE:To determine if chromosome 22q11 deletion status can be predicted in fetuses with tetralogy of Fallot as regards additional phenotypic anomalies. METHODS:One hundred and fifty-one consecutive fetuses with tetralogy of Fallot without or with pulmonary atresia were screened for 22q11 deletion. Additional echog...

journal_title：Prenatal diagnosis

authors： Boudjemline Y,Fermont L,Le Bidois J,Villain E,Sidi D,Bonnet D

更新日期：2002-03-01 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：:The goal of the current paper is to present, on the basis of six investigated fetal hearts, the pathological substrate of prenatally, sonographically diagnosed echogenic intramyocardial foci. The right ventricle, left ventricle, interventricular septum and papillary muscles of both ventricles of six hearts of the fetu...

journal_title：Prenatal diagnosis

authors： Tennstedt C,Chaoui R,Vogel M,Göldner B,Dietel M

更新日期：2000-04-01 00:00:00

abstract：:Blood collected from 62 fetuses aged 20-38 weeks of gestation was studied. The values of ten lipid parameters were determined: cholesterol (TC), triglycerides (TGs), apolipoprotein A1 (apo A1), apolipoprotein B (apo B), apolipoprotein E (apo E), total apolipoprotein CIII (apo CIII), apolipoprotein CIII present in part...

journal_title：Prenatal diagnosis

authors： Legras B,Durou MR,Ruelland A,Gallou G,Jezequel C,Cloarec L

更新日期：1995-03-01 00:00:00

abstract：:Acquired immunodeficiency syndrome (AIDS) was first described in 1981, and continues to be one of the worst global health pandemics in recorded history. Concerted international efforts have helped to increase awareness of human immunodeficiency (HIV) status, improve access to treatment and continuation of therapy to a...

journal_title：Prenatal diagnosis

authors： Harris K,Yudin MH

更新日期：2020-12-01 00:00:00

abstract：:Comparative genomic hybridization (CGH) is a FISH-related technique used to assess global chromosomal aberrations in a variety of human tumours. Recently CGH has been applied to cytogenetic analysis of fresh frozen fetoplacental tissues. Here we report the application of CGH to paraffin-embedded placental samples. Ten...

journal_title：Prenatal diagnosis

authors： Ozcan T,Burki N,Parkash V,Huang X,Pejovic T,Mahoney MJ,Ward DC

更新日期：2000-01-01 00:00:00

abstract：OBJECTIVES:To determine the prognostic value of fetal Doppler and echocardiographic parameters for neonatal survival up to 30 days after laser coagulation in monochorionic pregnancies complicated by twin-twin transfusion syndrome (TTTS). METHODS:Fetal echocardiography and outcome data of consecutive cases of TTTS trea...

journal_title：Prenatal diagnosis

authors： Delabaere A,Leduc F,Reboul Q,Fuchs F,Wavrant S,Fouron JC,Audibert F

更新日期：2016-12-01 00:00:00

abstract：:A prenatal diagnosis of right atrial isomerism is often inferred through the recognition of a constellation of cardiac anomalies on the four-chamber view or by the detection of visceral heterotaxy and asplenia. However, the actual occurrence of discordance between the arrangement of the atria and thoracic and abdomina...

journal_title：Prenatal diagnosis

authors： Colloridi V,Pizzuto F,Ventriglia F,Giancotti A,Pachì A,Gallo P

更新日期：1994-04-01 00:00:00

abstract：OBJECTIVE:To identify the correlation between the renal vascularization index (VI), the flow index (FI) and the vascularization and flow index (VFI) and placental and fetal hemodynamics in fetuses with growth restriction. METHOD:Bidimensional ultrasound and three-dimensional power Doppler with the VOCAL technique were...

journal_title：Prenatal diagnosis

authors： Doro GF,Senra JC,Rodrigues AS,Miyadahira S,Ribeiro RL,Francisco RPV,Bernardes LS

更新日期：2017-08-01 00:00:00

abstract：OBJECTIVE:Studies showing the efficacy and accuracy of chromosomal microarray analysis (CMA) in prenatal diagnosis may position it as a first-tier prenatal test. This study seeks to characterize the practices and attitudes of North American prenatal genetic counselors regarding CMA. METHOD:Genetic counselors (N = 196)...

journal_title：Prenatal diagnosis

authors： Mikhaelian M,Veach PM,MacFarlane I,LeRoy BS,Bower M

更新日期：2013-04-01 00:00:00

abstract：OBJECTIVES:We hypothesized that increased facility with fetal echocardiographic diagnosis by obstetricians is associated with changes in its indications and yields. METHODS:We reviewed 300 fetal echocardiograms (December 2002-August 2003) and compared our findings with previous studies. RESULTS:Mean maternal age was ...

journal_title：Prenatal diagnosis

authors： Friedberg MK,Silverman NH

更新日期：2004-10-01 00:00:00

abstract：OBJECTIVES:To get information about embryologic mechanisms of neural tube defects (NTD), by studying the associated malformations. METHODS:Eighty three cases of NTD, seen at the prenatal diagnosis unit of Rennes University Hospital (France) between May 1999 and December 2002, were retrospectively studied. Cases with c...

journal_title：Prenatal diagnosis

authors： Cabaret AS,Loget P,Loeuillet L,Odent S,Poulain P

更新日期：2007-08-01 00:00:00

abstract：:Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mo...

journal_title：Prenatal diagnosis

authors： Chang CC,Tsai FJ,Tsai HD,Tsai CH,Hseih YY,Lee CC,Yang TC,Wu JY

更新日期：1998-06-01 00:00:00

abstract：:During prenatal diagnosis for advanced maternal age, a pericentric inversion of a chromosome 19 was detected in a male fetus. The inversion was familial, transmitted to the fetus by the phenotypically normal mother. The pregnancy resulted in a term birth of a phenotypically normal male infant. Inversion 19 appears to ...

journal_title：Prenatal diagnosis

authors： Tharapel AT,Ward JC,Wiggins L,Wilroy RS Jr

更新日期：1986-01-01 00:00:00

abstract：OBJECTIVE:To present a series of cases with a sonographic thick and heterogeneous placenta, and to review the literature. METHODS:A series of 16 cases were analyzed. A heterogeneous placenta was defined as a thick placenta with a patchy decrease of echogenicity, which quivered like jelly to sharp abdominal pressure. A...

journal_title：Prenatal diagnosis

authors： Raio L,Ghezzi F,Cromi A,Nelle M,Dürig P,Schneider H

更新日期：2004-03-01 00:00:00

abstract：OBJECTIVE:Efficient prenatal risk communication hinges upon parents' grasp of statistical information. When forming their subjective representation of a probability, pregnant women may focus on inappropriate factors and ignore the appropriate factors. METHOD:The present research investigates the subjective probability...

journal_title：Prenatal diagnosis

authors： Pighin S,Bonnefon JF,Savadori L

更新日期：2011-08-01 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：OBJECTIVE:The cerebroplacental ratio (CPR) is a semi-quantitative marker for fetal brain-sparing. Our purpose was to measure the CPR at the time of treatment with selective laser photocoagulation of communicating vessels in gestations with twin-twin transfusion syndrome (TTTS) to test its association with neurological ...

journal_title：Prenatal diagnosis

authors： Chmait RH,Chon AH,Schrager SM,Llanes A,Hamilton A,Vanderbilt DL

更新日期：2016-01-01 00:00:00

abstract：:Measurement of the microvillar enzymes, gamma-glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and alkaline phosphatase (ALP), in amniotic fluid supernatant has been proposed as a method for the early prenatal diagnosis of cystic fibrosis. The activities of these enzymes in a series of other fetal abnormalities h...

journal_title：Prenatal diagnosis

authors： Brock DJ,Bedgood D,Hayward C,Carbarns NJ,Gosden C

更新日期：1984-07-01 00:00:00

abstract：:This study was undertaken in an attempt to determine the significance of elevated maternal serum human chorionic gonadotropin (MShCG), in the presence of an otherwise normal screen with respect to fetal malformations, chromosomal aberrations, and pregnancy outcome. Targeted ultrasound findings and perinatal outcome of...

journal_title：Prenatal diagnosis

authors： Fejgin MD,Kedar I,Amiel A,Ben-Tovim T,Chen R,Petel Y,Tepper R

更新日期：1997-11-01 00:00:00

abstract：BACKGROUND:Prenatal management of abnormal abdominal situs is challenging since prognosis is highly variable depending on the associated malformations. METHODS:The authors report on two cases of ambiguous abdominal situs. Prenatal management included specialized ultrasound examination of fetal anatomy and heart, amnio...

journal_title：Prenatal diagnosis

authors： Salomon LJ,Baumann C,Delezoide AL,Oury JF,Pariente D,Sebag G,Garel C

更新日期：2006-03-01 00:00:00

abstract：:The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11-14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans t...

journal_title：Prenatal diagnosis

authors： Carvalho MH,Brizot ML,Lopes LM,Chiba CH,Miyadahira S,Zugaib M

更新日期：2002-01-01 00:00:00

abstract：:We present a case of congenital listeriosis in a twin pregnancy. Presentation was prompted by decreased fetal movements and an ultrasound examination which demonstrated features similar to those observed in an adult with inflammatory conditions of the bowel, namely, small amounts of ascites, dilated loops of bowel and...

journal_title：Prenatal diagnosis

authors： Quinlivan JA,Newnham JP,Dickinson JE

更新日期：1998-10-01 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