Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction.

abstract：OBJECTIVE:This study evaluates pregnant women's and healthcare professionals' preferences regarding specific prenatal screening and diagnostic test characteristics. METHOD:A discrete choice experiment was developed to assess preferences for prenatal tests that differed in seven attributes: minimal gestational age, tim...

journal_title：Prenatal diagnosis

authors： Beulen L,Grutters JP,Faas BH,Feenstra I,Groenewoud H,van Vugt JM,Bekker MN

更新日期：2015-06-01 00:00:00

abstract：OBJECTIVE:To determine the value of a first trimester fetal ultrasound examination in cases of an increased nuchal translucency (NT). METHOD:A detailed fetal ultrasound examination was performed within 4 days of a detection of a first trimester increased NT. RESULTS:As many as 23 fetuses were evaluated. Severe anomal...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Zimmer EZ,Blazer S

更新日期：2008-11-01 00:00:00

abstract：:A case of early diagnosis at 13 weeks' gestational age of Meckel-Gruber syndrome by ultrasound is reported in a patient with a 25 per cent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed. ...

journal_title：Prenatal diagnosis

authors： Pachì A,Giancotti A,Torcia F,de Prosperi V,Maggi E

更新日期：1989-03-01 00:00:00

abstract：:In a study of 70 cases of trisomy 18 and 450 matched controls in the second trimester we have measured the maternal serum levels of the analytes alpha feto protein (AFP), free beta-human chorionic gonadotrophin (hCG) and pregnancy associated plasma protein-A (PAPP-A). We have found the median multiple of the median (M...

journal_title：Prenatal diagnosis

authors： Spencer K,Crossley JA,Green K,Worthington DJ,Brownbill K,Aitken DA

更新日期：1999-12-01 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：:The sonographic diagnosis of duodenal atresia and associated anomalies was made in a fetus at 15 weeks' gestation. A transient double-bubble sign was observed in three other normal fetuses. Sonographers are cautioned that normal intestinal peristalsis may cause a false image of duodenal atresia. ...

journal_title：Prenatal diagnosis

authors： Zimmer EZ,Bronshtein M

更新日期：1996-06-01 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：:Reverse chromosome painting has become a powerful tool in clinical genetics for the characterization of cytogenetically unclassifiable aberrations. In this report, the application of a sensitive and rapid procedure for the complete and precise identification of four different de novo structural chromosome abnormalitie...

journal_title：Prenatal diagnosis

authors： Müller-Navia J,Nebel A,Oehler D,Theile U,Zabel B,Schleiermacher E

更新日期：1996-10-01 00:00:00

abstract：:This report describes a case of a paternal balanced, but apparently non-reciprocal, insertion of chromosome 15 material into the short arm of chromosome 17 with difficulties in distinguishing between the normal and the deleted chromosome 15 in prenatal karyotype analysis. Microdissection and degenerate oligonucleotide...

journal_title：Prenatal diagnosis

authors： Senger G,Chudoba I,Friedrich U,Tommerup N,Claussen U,Brøndum-Nielsen K

更新日期：1997-04-01 00:00:00

abstract：OBJECTIVE:The purpose of this study was to investigate the clinical value of velocity vector imaging (VVI) in the assessment of normal fetal regional myocardial performance and to establish a normative data set for normal Chinese fetuses. METHODS:One hundred and fifty-one healthy Chinese fetuses were divided into five...

journal_title：Prenatal diagnosis

authors： Peng QH,Zhou QC,Zeng S,Tian LQ,Zhang M,Tan Y,Pu DR

更新日期：2009-12-01 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：OBJECTIVE:To determine the prenatal factors associated with the need for extracorporeal membrane oxygenation (ECMO) and neonatal survival in congenital diaphragmatic hernia (CDH). STUDY DESIGN:A retrospective cohort study of all cases of CDH seen in our center between 1998 and 2008. Prenatal ultrasound and neonatal re...

journal_title：Prenatal diagnosis

authors： Odibo AO,Najaf T,Vachharajani A,Warner B,Mathur A,Warner BW

更新日期：2010-06-01 00:00:00

abstract：OBJECTIVE:In this study, we expanded conventional cell-free fetal DNA (cfDNA)-based non-invasive prenatal testing (NIPT) to cover the entire genome. We aimed to compare the performance of the two tests in a large general population of pregnant women, in order to assess the clinical utility of the genome-wide screening....

journal_title：Prenatal diagnosis

authors： Fiorentino F,Bono S,Pizzuti F,Duca S,Polverari A,Faieta M,Baldi M,Diano L,Spinella F

更新日期：2017-06-01 00:00:00

abstract：OBJECTIVE:To report the outcome of transient abnormal cardiac flow patterns (ABCFP) at 13 to 17 weeks' gestation. METHODS AND RESULTS:Observational single operator study of transvaginal sonography scans of 13,183 fetuses. Of the 22 fetuses with ABCFP (1:600) high pulmonary valvular velocity was detected in 11 (8 of th...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Zimmer EZ,Blazer S,Blumenfeld Z

更新日期：2012-05-01 00:00:00

abstract：:Non-invasive prenatal testing has been in clinical use for a decade; however, there is evidence that this technology will be more widely applied within the next few years. Guidance is therefore required to ensure that the procedure is offered in a way that is evidence based and ethically and clinically acceptable. We ...

journal_title：Prenatal diagnosis

authors： Skirton H,Patch C

更新日期：2013-06-01 00:00:00

abstract：:We describe the detection of congenital long QT syndrome in a fetus at 37 weeks' gestation using magnetocardiography (MCG). The prenatal diagnosis was confirmed by standard electrocardiography (ECG) performed after birth. This is the first case report of fetal long QT syndrome detected by MCG. Fetal MCG may be useful ...

journal_title：Prenatal diagnosis

authors： Hamada H,Horigome H,Asaka M,Shigemitsu S,Mitsui T,Kubo T,Kandori A,Tsukada K

更新日期：1999-07-01 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：OBJECTIVES:To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular analysis. CASE AND METHODS:A 35-year-old pregnant woman came to our hospital for amniocentesis, and fetal chromosomal aberrations with mos46,X, + mar/45,X were found. Fluorescence in situ hybridization re...

journal_title：Prenatal diagnosis

authors： Hwa HL,Ko TM,Chang YY,Huang CH,Su YN,Tseng LH,Hsieh FJ

更新日期：2004-02-01 00:00:00

abstract：:We report the prenatal diagnosis of a fetus with a de novo Robertsonian translocation: 45,XY,der(15;15)(q10;q10). Although Robertsonian translocations are common chromosomal rearrangements, those involving homologous chromosomes are infrequent. Since chromosome 15 is imprinted, uniparental disomy (UPD) is a concern wh...

journal_title：Prenatal diagnosis

authors： Abrams DJ,Aronoff AR,Ann Berend S,Roa BB,Shaffer LG,Geier MR

更新日期：2001-08-01 00:00:00

abstract：OBJECTIVE:The objective of this article is to evaluate the efficacy of the first trimester sonomarkers (11-14 weeks) in predicting hemoglobin (Hb) Bart's disease among fetuses at risk MATERIALS AND METHODS:Prospective analysis was conducted on pregnancies at risk of fetal Hb Bart's disease at 11 to 14 weeks of gestati...

journal_title：Prenatal diagnosis

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

更新日期：2014-03-01 00:00:00

abstract：OBJECTIVE:Evaluate patient choices and outcomes following positive cfDNA. METHOD:Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultrasound findings, dia...

journal_title：Prenatal diagnosis

authors： Dobson LJ,Reiff ES,Little SE,Wilkins-Haug L,Bromley B

更新日期：2016-05-01 00:00:00

abstract：OBJECTIVES:Smith Lemli Opitz syndrome (SLOS) caused by a deficit of 3beta-hydroxysterol-Delta7 reductase was the first sterol deficit described with multiple malformations. The lack of specificity of many morphological abnormalities detected by ultrasound and their frequency have justified routine screening of amniotic...

journal_title：Prenatal diagnosis

authors： Chevy F,Humbert L,Wolf C

更新日期：2005-11-01 00:00:00

abstract：:The relationship between first-trimester maternal serum Schwangerschafts protein 1 (SP1) and the karyotype of the pregnancy was examined in 692 women who underwent chorionic villus biopsy at 6-12 weeks. There were 30 pregnancies with abnormal karyotypes, consisting of 14 Down's syndrome (DS), eight trisomy 18, and eig...

journal_title：Prenatal diagnosis

authors： MacIntosh MC,Brambati B,Chard T,Grudzinskas JG

更新日期：1993-07-01 00:00:00

abstract：:Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests secondary citrullinemia. The diagnosis of an affected child was confirmed by enzyme assay and 3H-biotin labelling of proteins in cultured fetal skin fibroblasts. Suff...

journal_title：Prenatal diagnosis

authors： Robinson BH,Toone JR,Benedict RP,Dimmick JE,Oei J,Applegarth DA

更新日期：1985-01-01 00:00:00

abstract：:The uptake of any screening test is influenced by knowledge of the condition being screened for. In the present study, the knowledge and the source of knowledge of women offered antenatal screening for Down syndrome (DS) was assessed by means of a self-administered questionnaire. The questionnaire was administered to ...

journal_title：Prenatal diagnosis

authors： Chilaka VN,Konje JC,Stewart CR,Narayan H,Taylor DJ

更新日期：2001-03-01 00:00:00

abstract：:A case of gastric outlet obstruction diagnosed prenatally at 22 weeks' gestation is described. The differential diagnosis and the clinical management of this rare condition are discussed, and an updated literature review is presented. ...

journal_title：Prenatal diagnosis

authors： Weissman A,Achiron R,Kuint J,Lipitz S,Mashiach S,Avigad I

更新日期：1994-09-01 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：:In this paper we report the fetal loss rate in relation to both maternal and gestational age in 1764 pregnant women who underwent transabdominal chorionic villus sampling (TA-CVS) between January 1986 and August 1990. The fetal loss rate, considered as a proportion of continuing pregnancies, decreased with advancing g...

journal_title：Prenatal diagnosis

authors： Monni G,Ibba RM,Lai R,Giuseppina C,Silvia M,Olla G,Cao A

更新日期：1992-10-01 00:00:00

abstract：OBJECTIVE:To determine whether abnormal levels of first-trimester maternal serum free β-hCG and PAPP-A are associated with significant copy number variants (CNVs) on chromosomal microarray analysis (CMA). METHODS:Retrospective cohort of singleton prenatal CMA studies (n = 2880). Cases with an abnormal karyotype, benig...

journal_title：Prenatal diagnosis

authors： Bornstein E,Gulersen M,Krantz D,Cheung SW,Maliszewski K,Divon MY

更新日期：2018-11-01 00:00:00

abstract：OBJECTIVE:17q12 microdeletions containing HNF1B and intragenic variants within this gene are associated with variable developmental, endocrine, and renal anomalies, often already noted prenatally as hyperechogenic/cystic kidneys. Here, we describe prenatal and postnatal phenotypes of seven individuals with HNF1B aberra...

journal_title：Prenatal diagnosis

authors： Vasileiou G,Hoyer J,Thiel CT,Schaefer J,Zapke M,Krumbiegel M,Kraus C,Zweier M,Uebe S,Ekici AB,Schneider M,Wiesener M,Rauch A,Faschingbauer F,Reis A,Zweier C,Popp B

更新日期：2019-11-01 00:00:00