Abstract:
:The heart is often perceived as a difficult organ to understand by ultrasound during fetal life. This is undoubtedly reflected in the low detection rate of cardiac abnormalities as compared to those of most other organ systems in the fetus. In this article we start by updating classical concepts of cardiac embryology, many of which were previously difficult to understand since they were overly simplistic or purely observational. We then lead on to the structure and growth of the fully formed fetal heart where we review the anatomy and ultrasound appearances in detail and provide comparisons with major abnormalities. We emphasise the fact that a solid understanding of cardiac anatomy can enable those involved in fetal medicine to make full use of the views of the heart that are obtained by ultrasound and which are often only transient.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Cook AC,Yates RW,Anderson RHdoi
10.1002/pd.1061subject
Has Abstractpub_date
2004-12-30 00:00:00pages
1032-48issue
13eissn
0197-3851issn
1097-0223journal_volume
24pub_type
杂志文章,评审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
pub_type: 杂志文章,评审
doi:10.1002/pd.5769
更新日期:2020-12-01 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
pub_type: 杂志文章,评审
doi:10.1002/pd.5611
更新日期:2020-02-01 00:00:00
abstract:OBJECTIVES:Polyhydramnios is suggested to be associated with oral clefts (OCs) due to swallowing problems. This study assessed incidence and outcome of idiopathic polyhydramnios in isolated OC pregnancies. METHODS:This was a retrospective cohort study of prenatally diagnosed OC. The incidence of idiopathic polyhydramn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4983
更新日期:2017-02-01 00:00:00
abstract::Fetal choroid plexuses have attracted the attention of perinatologists and geneticists because of the reported association between intrachoroid cysts and chromosomal abnormalities. This report deals with another variation in choroid plexus sonographic appearance-size variation. Sonographic follow-up results as well as...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199607)16:7<670::AID-PD929
更新日期:1996-07-01 00:00:00
abstract::Although no precise figures are available, many congenital brain lesions arise from intrauterine disruption, frequently due to obstetric complications. The most common entities include intracranial hemorrhage, ischemic lesions, thrombosis of venous vessels and infections. Accurate prenatal diagnosis is possible in man...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2244
更新日期:2009-04-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar. METHOD:Pregnant women who were referred for genetic testing because of ultrasound detection of fetal abnormalities suggestive of a skeletal dysplasia...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5653
更新日期:2020-04-01 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
pub_type: 杂志文章
doi:10.1002/pd.1970030406
更新日期:1983-10-01 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
pub_type: 杂志文章
doi:
更新日期:2000-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the association between echogenic appearing lungs on ultrasonographic examination of the fetus and aneuploidy. METHODS:Cases in which echogenic lungs were prospectively identified on ultrasonographic examination were collected. Other abnormal ultrasonographic findings were documented, as were pat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1112
更新日期:2005-03-01 00:00:00
abstract::Progressively since 1982 and as part of a nationwide programme for the diagnosis and prevention of genetic diseases, maternal serum alpha-fetoprotein (MS-AFP) screening and ultrasound fetal monitoring has been implemented in all pregnant women in Cuba. In Havana City, 328,983 pregnant women underwent MS-AFP screening ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199704)17:4<301::aid-pd969
更新日期:1997-04-01 00:00:00
abstract:BACKGROUND:Fetal cells in maternal blood still present an enticing alternative for the development of a safe and efficacious non-invasive method for prenatal diagnosis. However, most enrichment methods are very tedious and have failed to realise this long sought after goal. We developed a simple, robust TaqMan real-tim...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1521
更新日期:2006-09-01 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
pub_type: 杂志文章,收录出版
doi:10.1002/pd.1970090505
更新日期:1989-05-01 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
pub_type: 杂志文章
doi:10.1002/pd.5350
更新日期:2018-11-01 00:00:00
abstract::Twelve second-trimester fetuses with cystic hygroma underwent fetal blood sampling for rapid karyotyping, haematologic evaluation, and blood gas analysis. An abnormal karyotype was found in seven cases: monosomy X in five, trisomy 21 in one, and trisomy 13 in the other. Eight of ten fetuses undergoing blood gas analys...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100309
更新日期:1990-03-01 00:00:00
abstract:OBJECTIVES:To assess the effect of altering image size on the absolute nuchal translucency (NT) measurement. METHODS:NT was measured at three image magnifications (60%, 100% and 200%) in 120 singleton pregnancies. RESULTS:The mean +/- SD NT measurements were 1.52 +/- 0.57 mm, 1.35 +/- 0.53 mm and 1.18 +/- 0.48 mm at ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.577
更新日期:2003-04-01 00:00:00
abstract::The articles collected together in this issue describe first-trimester screening for a variety of complications. With the advance of both technology and research, early pregnancy screening is becoming ever more sophisticated and complex. While there are clear benefits to most women receiving early reassurance that the...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2687
更新日期:2011-01-01 00:00:00
abstract::Based on the presence of immature cells in fetal blood, and in an attempt to shorten the cytogenetic reporting time, three simultaneous one-day culture regimes were established in 23 fetal blood samples: (a) the standard phytohemagglutinin (PHA)-stimulated lymphocytes culture, (b) a culture using the granulocyte-macro...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract:OBJECTIVES:To determine fetal features, which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy. METHODS:We analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy. RESULTS:In the first case, diminished fetal movement, polyhydra...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1973
更新日期:2008-09-01 00:00:00
abstract::Two consecutive pregnancies in a woman with initially undiagnosed type I distal arthrogryposis (DA) are reported. A prenatal diagnosis of the condition was made by ultrasound in the 17th week of gestation in one of the pregnancies, whereas in the subsequent pregnancy the disorder was excluded as early as 13 weeks' ges...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121211
更新日期:1992-12-01 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
pub_type: 杂志文章
doi:10.1002/pd.4713
更新日期:2016-01-01 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
pub_type: 杂志文章
doi:10.1002/pd.1970050112
更新日期:1985-01-01 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
pub_type: 临床试验,杂志文章
doi:10.1002/pd.4782
更新日期:2016-04-01 00:00:00
abstract::A case of true fetal mosaicism 46,XY/47,XY, + 17 was diagnosed in amniotic fluid cells. After genetic counselling and unsuccessful periumbilical blood sampling the pregnancy continued to term, and a healthy male infant was born. Lymphocytes of the newborn had a normal karyotype. Follow-up of the child at age 18 months...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110610
更新日期:1991-06-01 00:00:00
abstract:BACKGROUND:An initial study of trisomy 21 cases showed that prior to 10 weeks, maternal serum levels of intact hCG in the early first trimester are lower than normal. Here we further study the levels prior to and after 10 weeks of gestation to further establish whether or not the intact hCG is effective as a very early...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2148
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND:Despite the large impact of ultrasonographic and biochemical markers on prenatal screening, the ability to accurately diagnose Down syndrome (DS) is still limited and better diagnostic testing is needed. METHODS:Plasma from 8 women carrying a DS foetus and 12 with non-DS foetuses matched for gestational age...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2040
更新日期:2008-08-01 00:00:00
abstract::Coelocentesis was performed in 20 singleton pregnancies at 6-10 weeks of gestation and 2-13 days before planned termination. The control group consisted of 100 women who were also undergoing planned termination and were matched with the study group for maternal age and gestation. During the follow-up period, there wer...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/(sici)1097-0223(199710)17:10<913::aid-pd17
更新日期:1997-10-01 00:00:00
abstract::An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal tr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-08-01 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
pub_type: 杂志文章
doi:10.1002/pd.5836
更新日期:2020-10-02 00:00:00
abstract::Gas chromatographic/mass spectrometric (GC/MS) analysis of maternal urine and serum steroids from 13 pregnancies at 25% risk for Smith-Lemli-Opitz syndrome (SLOS) was undertaken. All patients were between 12 and 31 weeks' gestational age. From dehydrocholesterol/cholesterol ratios determined in amniotic fluid and chor...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200103)21:3<207::aid-pd27>3.0.co
更新日期:2001-03-01 00:00:00
abstract::Since 1993, the position of the American College of Medical Genetics (ACMG) has been that prenatal interphase fluorescence in situ hybridization (FISH) is investigational. In 1997, the FDA cleared the AneuVysion assay (Vysis, Inc.) to enumerate chromosomes 13, 18, 21, X and Y for prenatal diagnosis. Data is presented ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究,评审
doi:10.1002/pd.57
更新日期:2001-04-01 00:00:00