Changing indications for fetal echocardiography in a University Center population.

abstract：OBJECTIVE:To compare the prognostic value of fetal serum α1-microglobulin with that of β2-microglobulin and cystatin C for postnatal renal function. METHOD:Retrospective study of α1-microglobulin, β2-microglobulin, and cystatin C in fetal serum from 126 fetuses with congenital abnormalities of the kidney and urinary t...

journal_title：Prenatal diagnosis

authors： Nguyen C,Dreux S,Heidet L,Czerkiewicz I,Salomon LJ,Guimiot F,Schmitz T,Tsatsaris V,Boulot P,Rousseau T,Muller F

更新日期：2013-08-01 00:00:00

abstract：:Preimplantation genetic testing for aneuploidy (PGT-A) by copy number analysis is now widely used to select euploid embryos for transfer. Whole or partial chromosome aneuploidy can arise in meiosis, predominantly female meiosis, or in the postzygotic, mitotic divisions during cleavage and blastocyst formation, resulti...

journal_title：Prenatal diagnosis

authors： Handyside AH,McCollin A,Summers MC,Ottolini CS

更新日期：2020-08-24 00:00:00

abstract：OBJECTIVE:Maternal serum pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotrophin (beta-hCG) are useful markers in the screening of Down syndrome in the first trimester. We investigated the effect of intracytoplasmic sperm injection (ICSI), freezing and thawing of embryos on the levels...

journal_title：Prenatal diagnosis

authors： Hui PW,Lam YH,Tang MH,NG EH,Yeung WS,Ho PC

更新日期：2005-05-01 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：:Cytogenetic microarray analysis (CMA) in prenatal testing detects chromosome abnormalities and new genetic syndromes that would be missed by conventional cytogenetics and has the potential to significantly enhance prenatal genetic evaluation. A large Eunice Kennedy Shriver National Institute Of Child Health and Human ...

journal_title：Prenatal diagnosis

authors： Wapner RJ,Driscoll DA,Simpson JL

更新日期：2012-04-01 00:00:00

abstract：OBJECTIVE:To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS:This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray a...

journal_title：Prenatal diagnosis

authors： Lei T,Feng JL,Xie YJ,Xie HN,Zheng J,Lin MF

更新日期：2017-11-01 00:00:00

abstract：OBJECTIVE:We examined the psychological responses to termination of pregnancy (TOP) for fetal anomaly from both men and women. The aim was to find risk factors for poor psychological outcome both for the individuals and for the couple. METHODS:A cross-sectional study was performed in 151 couples 2-7 years after TOP. W...

journal_title：Prenatal diagnosis

authors： Korenromp MJ,Page-Christiaens GC,van den Bout J,Mulder EJ,Hunfeld JA,Bilardo CM,Offermans JP,Visser GH

更新日期：2005-12-01 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：: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：:In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data co...

journal_title：Prenatal diagnosis

authors： Van Lith JM,Beekhuis JR,Van Loon AJ,Mantingh A,De Wolf BT,Breed AS

更新日期：1991-08-01 00:00:00

abstract：OBJECTIVE:Complications in pregnancy are suggested to be the result of intrauterine conditions in the first trimester of pregnancy. Three-dimensional ultrasound volume measurements might give more information, compared with two-dimensional measurements. Commonly available methods for volume measurements are not suited ...

journal_title：Prenatal diagnosis

authors： Smeets NA,Dvinskikh NA,Winkens B,Oei SG

更新日期：2012-08-01 00:00:00

abstract：BACKGROUND:Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported. METHODS:A total of 2400 prenatal chorionic villus samples (CVS) and 1525 prenatal samples of amniotic f...

journal_title：Prenatal diagnosis

authors： Gerdes T,Kirchhoff M,Lind AM,Vestergaard Larsen G,Kjaergaard S

更新日期：2008-12-01 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：:A case of Meckel-Gruber syndrome was diagnosed by embryoscopy at 10 menstrual weeks, allowing for early termination of pregnancy. Post-mortem examination confirmed the presence of polydactyly and bilateral cystic lesions of the mesonephros and metanephros. Both the forming nephrons and the collecting ducts were involv...

journal_title：Prenatal diagnosis

authors： Dumez Y,Dommergues M,Gubler MC,Bunduki V,Narcy F,LeMerrer M,Mandelbrot L,Berkowitz R

更新日期：1994-02-01 00:00:00

abstract：:Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. Advances in genomic medicine and technological platforms have made possible low cost, pan-ethnic expanded genetic screening that enables obstetric care providers to offer screening fo...

journal_title：Prenatal diagnosis

authors： Nazareth SB,Lazarin GA,Goldberg JD

更新日期：2015-10-01 00:00:00

abstract：:Six cases are reported with discrepancies between the karyotypes of placental cells and cells from other fetal tissue. The respective findings were: 48, + 7, + 18 resp. 47, + 18. 46,i(18q) resp. 46,del18(p11). 46,XX resp. 46,XX/47,XXX. 46,X,Yq+ and 46,XY resp. 46,XY. 46/47, + 12 resp. 46. 46/47, + 5 resp. 46. These di...

journal_title：Prenatal diagnosis

authors： Verjaal M,Leschot NJ,Wolf H,Treffers PE

更新日期：1987-06-01 00:00:00

abstract：:Toriello-Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome bas...

journal_title：Prenatal diagnosis

authors： Paladini D,Russo MG,Tartaglione A,Loffredo A,Martinelli P

更新日期：2002-12-01 00:00:00

abstract：OBJECTIVES:To determine the cost effectiveness of a universal prenatal screening program for alpha- and beta-thalassaemia. METHODS:We retrospectively reviewed our program from 1998 to 2002, and calculated the direct and indirect costs of various components. RESULTS:18,936 women were screened at our prenatal clinic an...

journal_title：Prenatal diagnosis

authors： Leung KY,Lee CP,Tang MH,Lau ET,Ng LK,Lee YP,Chan HY,Ma ES,Chan V

更新日期：2004-11-01 00:00:00

abstract：OBJECTIVE:To investigate the existence of a relationship between maternal body mass, maternal ethnicity and maternal smoking status and nuchal translucency (NT) in the first trimester of pregnancy. METHODS:NT measurements from 130 339 euploid, singleton pregnancies were converted to NT multiples of the median (MoM) an...

journal_title：Prenatal diagnosis

authors： Cowans NJ,Spencer K

更新日期：2011-05-01 00:00:00

abstract：OBJECTIVES:Use high-resolution genome analysis to clarify the genomic integrity in a fetus with a cytogenetically balanced translocation t(2;9)(q11.2;q34.3). METHODS:High resolution molecular cytogenetic analyses including G-banded chromosome analysis, fluorescence in situ hybridization (FISH), and array-comparative g...

journal_title：Prenatal diagnosis

authors： Simovich MJ,Yatsenko SA,Kang SH,Cheung SW,Dudek ME,Pursley A,Ward PA,Patel A,Lupski JR

更新日期：2007-12-01 00:00:00

abstract：OBJECTIVE:The objective of this article is to describe the diagnostic significance of prenatal identification of dilated supra-pineal recess (SPR) in cases of ventriculomegaly. METHOD:A retrospective study, based on neurosonography and magnetic resonance imaging, of a series of five prenatal cases referred to our inst...

journal_title：Prenatal diagnosis

authors： Azzi C,Giaconia MB,Lacalm A,Massoud M,Gaucherand P,Guibaud L

更新日期：2014-04-01 00:00:00

abstract：:This study was undertaken to study the applicability of genetic antenatal screening for the Finnish type of congenital nephrosis (CNF), which is a recessive disorder leading to nephrotic syndrome from birth. At Kuopio University Hospital, a total of 1303 pregnant women were offered carrier screening for CNF at the tim...

journal_title：Prenatal diagnosis

authors： Kallinen J,Heinonen S,Ryynänen M,Pulkkinen L,Mannermaa A

更新日期：2001-02-01 00:00:00

abstract：:Deficiency of amylo-1,6-glucosidase activity was expressed in parallel in liver and skin fibroblasts from a patient with type III glycogenosis. In crude extracts of control liver and muscle, amylo-1,6-glucosidase (M.W. 164000) was identified by immunoprecipitation; no cross-reacting material was found in the patient's...

journal_title：Prenatal diagnosis

authors： Besley GT,Cohen PT,Faed MJ,Wolstenholme J

更新日期：1983-01-01 00:00:00

abstract：:Fetal triploidy is commonly found in early pregnancy. The majority of these pregnancies spontaneously abort in the first trimester. Occasionally, the pregnancy progresses to the second and third trimesters. We reviewed the maternal serum alpha-fetoprotein (MSAFP), amniotic fluid alpha-fetoprotein (AFP), amniotic fluid...

journal_title：Prenatal diagnosis

authors： Pircon RA,Towers CV,Porto M,Gocke SE,Garite TJ

更新日期：1989-10-01 00:00:00

abstract：OBJECTIVE:To describe prenatal magnetic resonance imaging (MRI) findings of dural sinus malformation (DSM), a very rare, congenital form of dural arteriovenous shunt (DAVS), typically affecting newborns. METHODS:Ultrasound (US) and MRI were performed at 34 weeks' gestation, and the findings of these examinations were ...

journal_title：Prenatal diagnosis

authors： Rossi A,De Biasio P,Scarso E,Gandolfo C,Pavanello M,Morana G,Venturini PL,Tortori-Donati P

更新日期：2006-01-01 00:00:00

abstract：:Human chorionic gonadotrophin (hCG) levels were assayed retrospectively in stored maternal serum samples from 78 chromosomally abnormal pregnancies and 410 controls matched for gestation and maternal age. The median serum hCG concentration in 49 pregnancies with Down's syndrome was significantly elevated, at 2.18 mult...

journal_title：Prenatal diagnosis

authors： Crossley JA,Aitken DA,Connor JM

更新日期：1991-02-01 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：: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：OBJECTIVE:To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method. METHOD:Chromosomal aneuploidies and submicroscopic copy...

journal_title：Prenatal diagnosis

authors： Zhu X,Li J,Ru T,Wang Y,Xu Y,Yang Y,Wu X,Cram DS,Hu Y

更新日期：2016-04-01 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