Economic assessment of maternal serum screening for Down's syndrome using human chorionic gonadotropin.

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：: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：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：:Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32-year-old white female at 17.6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number ...

journal_title：Prenatal diagnosis

authors： Petrella R,Hirschhorn K

更新日期：1990-12-01 00:00:00

abstract：OBJECTIVE:Enrichment of circulating trophoblasts (CTs) from maternal blood at week 11-13 of gestation, using laminar microscale vortices, and evaluation of the performance of the VTX-1 Liquid Biopsy System in terms of CT recovery and purity. METHOD:Eight mililiter of blood was collected from 15 pregnant women and proc...

journal_title：Prenatal diagnosis

authors： Vander Plaetsen AS,Weymaere J,Tytgat O,Buyle M,Deforce D,Van Nieuwerburgh F

更新日期：2021-01-12 00:00:00

abstract：:A reliable cost-effective protocol for the diagnosis of various defective genes in single blastomeres from preimplantation embryos has been established. Single cells were lysed in alkali buffer followed by neutralization and addition of a solution containing a high concentration of sulfhydryl reducing agents and MgCl(...

journal_title：Prenatal diagnosis

authors： Tsai YH

更新日期：2000-12-01 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：OBJECTIVES:Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on...

journal_title：Prenatal diagnosis

authors： Beattie MJ,Friedman KG,Sleeper LA,Lu M,Drogosz M,Callahan R,Marshall AC,Prosnitz AR,Lafranchi T,Benson CB,Wilkins-Haug LE,Tworetzky W

更新日期：2021-01-18 00:00:00

abstract：:A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out ...

journal_title：Prenatal diagnosis

authors： Gualandi F,Sensi A,Trabanelli C,Falciano F,Bonfatti A,Calzolari E

更新日期：2000-06-01 00:00:00

abstract：OBJECTIVE:To evaluate the association between ultrasonographic renal parameters and urine biochemistry in fetuses with lower urinary tract obstruction (LUTO). METHODS:Data were collected prospectively from 31 consecutive fetuses with LUTO that underwent vesicocentesis for fetal urinary biochemistry between April 2013 ...

journal_title：Prenatal diagnosis

authors： Nassr AA,Koh CK,Shamshirsaz AA,Espinoza J,Sangi-Haghpeykar H,Sharhan D,Welty S,Angelo J,Roth D,Belfort MA,Braun M,Ruano R

更新日期：2016-12-01 00:00:00

abstract：OBJECTIVES:To present the prenatal diagnosis of a de novo terminal inversion duplication of the short arm of chromosome 4 and a review of the literature. CASE:An amniocentesis for chromosome analysis was performed at 33 weeks' gestation because ultrasound examination showed a female fetus with multiple abnormalities c...

journal_title：Prenatal diagnosis

authors： Beaujard MP,Jouannic JM,Bessières B,Borie C,Martin-Luis I,Fallet-Bianco C,Portnoï MF

更新日期：2005-06-01 00:00:00

abstract：OBJECTIVES:To assess the incidence of sex chromosome aneuploidy (SCA) predicted by noninvasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS:We identified suspected cases of SCA by reviewing results...

journal_title：Prenatal diagnosis

authors： Reiss RE,Discenza M,Foster J,Dobson L,Wilkins-Haug L

更新日期：2017-05-01 00:00:00

abstract：OBJECTIVES:Clinical symptoms and ultrasound signs during pregnancy could suggest the presence of esophageal atresia (EA). However, most often EA is diagnosed postnatally. The aim of our study is to evaluate the course and outcome for prenatally and postnatally diagnosed EA. In addition, we studied the outcome of isolat...

journal_title：Prenatal diagnosis

authors： de Jong EM,de Haan MA,Gischler SJ,Hop W,Cohen-Overbeek TE,Bax NM,de Klein A,Tibboel D,Grijseels EW

更新日期：2010-03-01 00:00:00

abstract：:Twenty-eight young people with thalassemia major expressed their opinion about prenatal diagnosis. All of them stated that they intended to marry and have children; thirteen of them (46 per cent) said that they would have also accepted a thalassemic carrier as a partner and that if married to a carrier they would have...

journal_title：Prenatal diagnosis

authors： Schilirò G,Romeo MA,Mollica F

更新日期：1988-03-01 00:00:00

abstract：OBJECTIVE:To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12-S (ADAM12s) as an additional marker for the combined test in the Dutch first-trimester national Down syndrome (DS) screening program. METHODS:Serum samples were collected between 2004 and 2007 as part of the national program. A ...

journal_title：Prenatal diagnosis

authors： Wortelboer EJ,Linskens IH,Koster MP,Stoutenbeek P,Cuckle H,Blankenstein MA,Visser GH,van Vugt JM,Schielen PC

更新日期：2009-09-01 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：INTRODUCTION:Limited data exist on the outcome of Dandy-Walker malformation (DWM), Dandy-Walker variant (DWV) and mega-cisterna magna (MCM). We report the first population-based study of posterior fossa anomalies from the northern region of England. METHODS:Cases were identified from the Northern Congenital Abnormalit...

journal_title：Prenatal diagnosis

authors： Long A,Moran P,Robson S

更新日期：2006-08-01 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：: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：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:To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing. METHODS:Microarray analysis using either whole-genome bacterial artificial chromosome (BAC)-based and oligonucleot...

journal_title：Prenatal diagnosis

authors： Coppinger J,Alliman S,Lamb AN,Torchia BS,Bejjani BA,Shaffer LG

更新日期：2009-12-01 00:00:00

abstract：:The prenatal sonographic findings in two children with Aicardi syndrome are reported. ...

journal_title：Prenatal diagnosis

authors： Bromley B,Krishnamoorthy KS,Benacerraf BR

更新日期：2000-04-01 00:00:00

abstract：OBJECTIVES:The objective of this study was to identify maternal characteristics associated with a failed cell-free DNA (cfDNA) test due to a low fetal fraction (FF). METHOD:Retrospective cohort study of women with singleton pregnancies who had cfDNA screening at 10-25 weeks gestation between October 2011 and January 2...

journal_title：Prenatal diagnosis

authors： Burns W,Koelper N,Barberio A,Deagostino-Kelly M,Mennuti M,Sammel MD,Dugoff L

更新日期：2017-11-01 00:00:00

abstract：OBJECTIVES:To determine if the ultrasound marker Nuchal Index (NIx) is gestational age independent, and to determine its specificity and sensitivity for Down syndrome (DS) identification. METHODS:Prospective cohort. A prospective database of fetal biometry and soft markers of aneuploidy was searched for fetuses with t...

journal_title：Prenatal diagnosis

authors： Lim KI,Pugash D,Dansereau J,Wilson RD

更新日期：2002-12-01 00:00:00

abstract：OBJECTIVES:To study the clinical, emotional and moral difficulties that French midwives encounter in the labor ward while performing termination of pregnancy (TOP) for fetal abnormality. SETTING:Six public maternity hospitals located in the Ile de France region, two of which were referral centers for prenatal diagnosi...

journal_title：Prenatal diagnosis

authors： Garel M,Etienne E,Blondel B,Dommergues M

更新日期：2007-07-01 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：OBJECTIVES:To assess the factors associated with utilization of genetic counseling services among pregnant Israeli Arab women. METHODS:A case-control study was conducted among 414 pregnant Arab women who were referred by a family physician or a perinatologist to genetic counseling services between 2008 and 2011. Data ...

journal_title：Prenatal diagnosis

authors： Sharkia R,Tarabeia J,Zalan A,Atamany E,Athamna M,Allon-Shalev S

更新日期：2015-04-01 00:00:00

abstract：:A 40-year-old woman underwent amniocentesis at 15.3 weeks of gestation. Chromosome analysis performed using QFQ, DA-DAPI and CBG banding revealed two de novo extra-chromosomal markers (ESACs) in 11 of the 16 colonies analysed. Fluorescence in situ hybridization (FISH) showed that both chromosomes came from the Yq11.22...

journal_title：Prenatal diagnosis

authors： Marchina E,Piovani G,Vezzola L,Bellotti D,Cerri V,Groli C,Barlati S

更新日期：2003-12-15 00:00:00

abstract：:Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in spe...

journal_title：Prenatal diagnosis

authors： Abou Tayoun AN,Spinner NB,Rehm HL,Green RC,Bianchi DW

更新日期：2018-01-01 00:00:00

abstract：:A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assay...

journal_title：Prenatal diagnosis

authors： Boelter WD,Burt BA,Spector EB,Hinton DR,Pavlova Z,Fujimoto A

更新日期：1990-11-01 00:00:00