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 analysis were performed, and chromosomal aneuploidies and copy number variations (CNVs) were identified. RESULTS:Among 74 cases included in this study, 8 were of Blake's pouch cyst; 7, Dandy-Walker malformation; 11, vermian hypoplasia; 32, enlarged cisterna magna; and 16, cerebellar hypoplasia. The rates of nonbenign chromosomal aberrations (including chromosomal aneuploidies, pathogenic CNVs, and variants of unknown significance) were 2/8 (25.0%), 2/7 (28.5%), 8/11 (72.7%), 7/32 (21.9%), and 6/16 (37.5%), respectively. Cases were also classified as isolated PFAs (30/74), PFAs with other central nervous system (CNS) abnormalities (13/74), or PFAs with extra-CNS structural abnormalities (31/74). No fetuses with isolated PFAs or PFAs accompanied by other CNS abnormalities exhibited chromosomal aneuploidies or pathogenic CNVs. The rate of pathogenic chromosomal aberrations in the remaining fetuses was 17/31 (22.9%). CONCLUSION:The combined use of chromosomal microarray analysis and karyotype analysis might assist the prenatal diagnosis and management of PFAs, with extra-CNS structural abnormalities being detected by ultrasonography.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Lei T,Feng JL,Xie YJ,Xie HN,Zheng J,Lin MFdoi
10.1002/pd.5159subject
Has Abstractpub_date
2017-11-01 00:00:00pages
1160-1168issue
11eissn
0197-3851issn
1097-0223journal_volume
37pub_type
杂志文章abstract::Amniocentesis and subsequent tests are reported on a fetus conceived of a rare mating type: its mother has an intermediate level of beta hexosaminidase A (HEX A), characteristic of carriers of Tay-Sachs disease (TSD), while the father suffers from an adult-onset GM2 gangliosidosis (AOG) with severe HEX A deficiency. A...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970060303
更新日期:1986-05-01 00:00:00
abstract:OBJECTIVES:To evaluate the association between absence of nasal bone on ultrasound and Down syndrome in fetuses at 11-14 weeks of pregnancy. METHODS:One hundred and ninety-four consecutive fetuses from singleton pregnancies undergoing chorionic villi sampling (CVS) were evaluated by transabdominal ultrasound. A sagitt...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.431
更新日期:2002-10-01 00:00:00
abstract::Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150914
更新日期:1995-09-01 00:00:00
abstract::This paper reports our experience of molecular analysis and diagnosis of beta-thalassaemia and sickle cell anaemia (HbS) in 70 prospective parents of Turkish descent and their fetuses. Molecular screening was carried out by allele-specific oligonucleotide (ASO) hybridization of amplified DNA to the 12 most common muta...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199603)16:3<252::AID-PD839
更新日期:1996-03-01 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
pub_type: 杂志文章
doi:10.1002/pd.497
更新日期:2002-12-01 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
pub_type: 杂志文章,评审
doi:10.1002/pd.5038
更新日期:2018-01-01 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
pub_type: 杂志文章
doi:10.1002/pd.5099
更新日期:2017-08-01 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
pub_type: 杂志文章
doi:10.1002/pd.4246
更新日期:2013-12-01 00:00:00
abstract::A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199908)19:8<780::aid-pd634
更新日期:1999-08-01 00:00:00
abstract:OBJECTIVE:To assess the value of biomagnetic recordings of the umbilical artery over Doppler ultrasound screening in order to predict complications of impaired uteroplacental blood flow in fetuses with intrauterine growth restriction (IUGR). METHODS:Our study population included 11 IUGR preeclamptic (34-37-weeks gesta...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.585
更新日期:2003-04-01 00:00:00
abstract:OBJECTIVES:To identify expressed sequence tag (EST) clusters preferentially expressed in placentas. METHODS:The National Center for Biotechnology's online UniGene database contains 14 placenta libraries. In silico (computer-based) subtraction compared placenta libraries against the remaining libraries to identify tran...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.608
更新日期:2003-05-01 00:00:00
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,...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1061
更新日期:2004-12-30 00:00:00
abstract:OBJECTIVE:A common concern of utilizing prenatal advanced genetic testing is that a result of uncertain clinical significance will increase patient anxiety. However, prenatal ultrasound may also yield findings of uncertain significance, such as 'soft markers' for fetal aneuploidy, or findings with variable prognosis, s...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4680
更新日期:2015-12-01 00:00:00
abstract::Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analy...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.158
更新日期:2001-10-01 00:00:00
abstract:OBJECTIVES:To get information about embryologic mechanisms of neural tube defects (NTD), by studying the associated malformations. METHODS:Eighty three cases of NTD, seen at the prenatal diagnosis unit of Rennes University Hospital (France) between May 1999 and December 2002, were retrospectively studied. Cases with c...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1771
更新日期:2007-08-01 00:00:00
abstract:OBJECTIVE:To study associations of first trimester cell-free fetal DNA levels (in this paper referred to as cell-free placental DNA (cfpDNA) levels) and preeclampsia (PE), pregnancy-induced hypertension (PIH), gestational diabetes (GDM) and spontaneous preterm birth (sPB). METHOD:A nested case-control study was conduc...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4940
更新日期:2016-12-01 00:00:00
abstract::Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a potentially devastating condition, which may lead to intracranial haemorrhage (ICH) in the fetus or neonate, often with death or major neurological damage as consequence. In the absence of screening, preventive measures are only possible in the next pregnancy...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2779
更新日期:2011-07-01 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
pub_type: 杂志文章,评审
doi:10.1002/pd.5553
更新日期:2019-11-01 00:00:00
abstract::In order to investigate whether systemic arteriovenous fistula occurring during the fetal period could induce pulmonary hypertension at birth, a fistula was surgically created between the carotid artery and jugular vein of fetal lambs at 120 days' gestation. Mean pressures in the left pulmonary artery, aorta, atrium a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.255
更新日期:2002-01-01 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
pub_type: 杂志文章
doi:10.1002/pd.1970140921
更新日期:1994-09-01 00:00:00
abstract:OBJECTIVE:The FASTER trial compared first and second trimester screening methods for aneuploidy. We examined relationships between maternal serum markers and common congenital anomalies in the pediatric outcome data set of 36 837 subjects. METHODS:We used nested case-control studies, with cases defined by the most com...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/pd.2082
更新日期:2008-12-01 00:00:00
abstract::During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040509
更新日期:1984-09-01 00:00:00
abstract:OBJECTIVES:To replace G-banded chromosome analysis for miscarriage products with a combined molecular approach: QF-PCR and MLPA, to increase efficiency, reduce costs, and improve the diagnostic success rate for these samples. METHODS:A review of 10 years of karyotype results for miscarriages products indicated that 2....
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2424
更新日期:2010-02-01 00:00:00
abstract::Operator experience is considered to influence the safety and success of medical procedures. We performed a retrospective survey to assess learning curves in chorionic villus sampling (CVS). Data of 2081 consecutive women, in whom CVS was carried out in a tertiary care university hospital for prenatal diagnosis, were ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-03-01 00:00:00
abstract::Forty-two fetuses with non-homologous Robertsonian translocations were analyzed for uniparental disomy (UPD). One fetus with a de novo translocation t(13q;14q) had maternal isodisomy of chromosome 14. In a summary of the published data (including the present study), 315 cases were analyzed for UPD after prenatal diagn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.370
更新日期:2002-08-01 00:00:00
abstract::Amiodarone treatment in pregnancy might be difficult to handle because of the long half-life of the drug (14-28 days up to 2 months) and because it reduces maternal and neonatal thyroid activity. Although short-term use in pregnancy has been described in cases of fetal supraventricular tachycardia, there are few repor...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120903
更新日期:1992-09-01 00:00:00
abstract:OBJECTIVE:Pregnant women who receive a high screening risk result for Down, Edwards or Patau syndrome are offered diagnostic tests that carry a risk of miscarriage. This study determined how many women had such tests per syndrome diagnosis. METHOD:The number of tests per Down, Edwards or Patau syndrome diagnosis adjus...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3866
更新日期:2012-06-01 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
pub_type: 杂志文章
doi:10.1002/pd.1755
更新日期:2007-07-01 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
pub_type: 杂志文章
doi:10.1002/pd.5752
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVE:To assess diagnostic accuracy, related findings, and outcomes of fetuses with clubfoot. METHODS:Sonographic characteristics, pregnancy work-up, and postnatal outcomes were evaluated in 109 fetuses with clubfoot. RESULTS:Among 40 320 prenatal ultrasound anomaly scans, clubfoot was diagnosed in 150 (0.37%). A...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5077
更新日期:2017-08-01 00:00:00