A qualitative investigation of the decision-making process of couples considering prenatal screening for Down syndrome.

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：:A high resolution technique was applied to amniotic fluid cells by synchronization. After inoculation, the cells were incubated for 30 h in the presence of either thymidine or 5-bromodeoxyuridine (BrdU). After removal of the blocking agent and addition of a low concentration of thymidine, the cells were incubated for ...

journal_title：Prenatal diagnosis

authors： Qu J,Dallaire L,Lemieux N,Drouin R,Richer CL

更新日期：1989-01-01 00:00:00

abstract：:Two cases of sirenomelia are described, detected in the 14th and 16th weeks of gestation by transvaginal ultrasonography. A hypothesis for the aetiology of sirenomelia and its associated anomalies is discussed. ...

journal_title：Prenatal diagnosis

authors： van Zalen-Sprock MM,van Vugt JM,van der Harten JJ,van Geijn HP

更新日期：1995-02-01 00:00:00

abstract：INTRODUCTION:Pure duplication of chromosome 18p is rare, with clinical phenotypes ranging from normal or slight abnormalities to various degrees of mental retardation. It remains difficult to establish a clear genotype-phenotype correlation. METHODS:Chromosomal karyotyping analysis was performed on cultured amniotic f...

journal_title：Prenatal diagnosis

authors： Wang R,Zhang H,Li L,Yue F,Jiang Y,Li S,Liu R

更新日期：2019-11-01 00:00:00

abstract：OBJECTIVE:To present fetal magnetic resonance imaging (MRI) ocular measurement ranges by gestational age (GA) in normal and growth-restricted fetuses. METHODS:A total of 298 pregnant women from the 18th to the 39th week of gestation were imaged using MRI. Ocular measurements including binocular distance (BOD), interoc...

journal_title：Prenatal diagnosis

authors： Li XB,Kasprian G,Hodge JC,Jiang XL,Bettelheim D,Brugger PC,Prayer D

更新日期：2010-11-01 00:00:00

abstract：:To assess the influence of in vitro fertilization (IVF) on maternal serum human chorionic gonadotrophin (hCG) and alpha-fetoprotein (AFP), the maternal serum hCG and AFP values were studied in 67 IVF pregnancies and compared with the results of a control group of 4732 spontaneously conceiving patients. Maternal serum ...

journal_title：Prenatal diagnosis

authors： Ribbert LS,Kornman LH,De Wolf BT,Simons AH,Jansen CA,Beekhuis JR,Mantingh A

更新日期：1996-01-01 00:00:00

abstract：OBJECTIVE:The co-occurrence of cancer and pregnancy is more frequently diagnosed. The effects of cancer treatment on maternal and fetal outcomes are less well known. The cardiotoxic effects of chemotherapy are a specific concern for the mother and fetus. We wanted to review the existing literature, mainly consisting of...

journal_title：Prenatal diagnosis

authors： Gziri MM,Amant F,Debiève F,Van Calsteren K,De Catte L,Mertens L

更新日期：2012-07-01 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：:We have studied the opinions and attitudes of women towards prenatal diagnosis (amniocentesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the diagnostic procedure...

journal_title：Prenatal diagnosis

authors： Tymstra TJ,Bajema C,Beekhuis JR,Mantingh A

更新日期：1991-12-01 00:00:00

abstract：:Multicystic dysplastic kidney disease (MDKD) is one of the most common congenital renal anomalies. We report 16 consecutive cases of MDKD recognized in the antenatal period by sonography. Diagnosis is usually easy as MDKD has in the vast majority of cases a striking ultrasound appearance including enlargement of the k...

journal_title：Prenatal diagnosis

authors： Rizzo N,Gabrielli S,Pilu G,Perolo A,Cacciari A,Domini R,Bovicelli L

更新日期：1987-02-01 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：: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：:A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies. Confirma...

journal_title：Prenatal diagnosis

authors： Benn A,Warburton D,Byrne JM,Rudelli R,Shonhaut A,Yeboa K,Mootabar H,Hsu LY

更新日期：1983-10-01 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：:Two cases of mosaic trisomy 7 confined to the cultured cells and not found in direct preparation were detected from 200 consecutive first-trimester chorionic villus samples (CVS) analysed. The mosaicism was similar in the two cases, but the pregnancy outcome was different. In both cases, the direct metaphases from the...

journal_title：Prenatal diagnosis

authors： Reddy KS,Blakemore KJ,Stetten G,Corson V

更新日期：1990-07-01 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：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：: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

abstract：:Second trimester screening for fetal Down syndrome and trisomy 18 is available through separate protocols that combine the maternal age-specific risk and the analysis of maternal serum markers. We have determined the extent to which additional Down syndrome affected pregnancies may be identified through trisomy 18 scr...

journal_title：Prenatal diagnosis

authors： Benn PA,Ying J,Beazoglou T,Egan JF

更新日期：2001-01-01 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：:Urinary tract anomalies are common. Prenatal diagnosis is important and enables either special obstetric management or termination of pregnancy and probably in the future, intrauterine intervention. Transvaginal sonography (TVS) allows visualization of the normal and anomalous fetal urinary tract at an early stage. On...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Yoffe N,Brandes JM,Blumenfeld Z

更新日期：1990-10-01 00:00:00

abstract：OBJECTIVE:We aimed to study the role of placental pathology in the prediction of preeclampsia (PE) recurrence. METHODS:The medical records and pathological placental reports of all women diagnosed with PE, during 2008-2015, were reviewed. The study population was divided according to the outcome of their subsequent pr...

journal_title：Prenatal diagnosis

authors： Weiner E,Mizrachi Y,Grinstein E,Feldstein O,Rymer-Haskel N,Juravel E,Schreiber L,Bar J,Kovo M

更新日期：2016-10-01 00:00:00

abstract：OBJECTIVE:Our objective is to evaluate for potential associations between chorionic villus sampling (CVS) and hypertensive disorders of pregnancy. METHODS:Using our genetic database, we compared the rates of hypertensive disorders between women who underwent CVS at 10-13 and 6/7 weeks with those seen for other indicat...

journal_title：Prenatal diagnosis

authors： Odibo AO,Singla A,Gray DL,Dicke JM,Oberle B,Crane J

更新日期：2010-01-01 00:00:00

abstract：:Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to i...

journal_title：Prenatal diagnosis

authors： Delatycki MB,Alkuraya F,Archibald A,Castellani C,Cornel M,Grody WW,Henneman L,Ioannides AS,Kirk E,Laing N,Lucassen A,Massie J,Schuurmans J,Thong MK,van Langen I,Zlotogora J

更新日期：2020-02-01 00:00:00

abstract：OBJECTIVES:Screening of fetuses at 11 to 14 weeks of gestation for Down syndrome using stored volumes acquired by a three-dimensional (3D) scanner. METHOD:Thirty-four healthy singleton fetuses were recruited consecutively and prospectively during routine first trimester scans in our unit. Two-dimensional (2D) images o...

journal_title：Prenatal diagnosis

authors： Shaw SW,Hsieh TT,Hsu JJ,Lee CL,Cheng PJ

更新日期：2009-01-01 00:00:00

abstract：OBJECTIVE:The objective of the study is to assess the clinical application of noninvasive prenatal testing (NIPT) for VTS pregnancies after the treatment of assisted reproductive technology (ART). METHOD:This was a retrospective study on VTS pregnancies through ART treatment. Participants underwent NIPT at 11 to 13 we...

journal_title：Prenatal diagnosis

authors： Zou Y,Cui L,Xue M,Yan J,Huang M,Gao M,Gao X,Gao Y,Chen ZJ

更新日期：2020-10-02 00:00:00

abstract：OBJECTIVE:The aim of this research was to evaluate the performance of a predictive model for early onset preeclampsia (PE) during early gestation. METHOD:Prospective multicenter cohort study was performed in women attending 11-14 weeks ultrasound. Medical history and biometrical variables were recorded and uterine art...

journal_title：Prenatal diagnosis

authors： Caradeux J,Serra R,Nien JK,Pérez-Sepulveda A,Schepeler M,Guerra F,Gutiérrez J,Martínez J,Cabrera C,Figueroa-Diesel H,Soothill P,Illanes SE

更新日期：2013-08-01 00:00:00

abstract：:We present the prenatal ultrasound findings in a case of hydrolethalus. This case illustrates ongoing problems in differentiating hydrolethalus, both pre- and postnatally, from other midline malformation syndromes including Pallister-Hall, Smith-Lemli-Opitz, pseudo-trisomy 13, oral facial-digital syndrome, and Meckel ...

journal_title：Prenatal diagnosis

authors： Norgard M,Yankowitz J,Rhead W,Kanis AB,Hall BD

更新日期：1996-02-01 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：OBJECTIVE:This study aims to evaluate the prevalence of congenital heart disease (CHD) in monochorionic (MC) twin pregnancies with and without twin-to-twin transfusion syndrome (TTTS) in an unselected cohort, which underwent prenatal and postnatal echocardiography. METHOD:This was a retrospective cohort study includin...

journal_title：Prenatal diagnosis

authors： Springer S,Mlczoch E,Krampl-Bettelheim E,Mailáth-Pokorny M,Ulm B,Worda C,Worda K

更新日期：2014-10-01 00:00:00