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 pregnancy management, follow-up and additional investigations. METHODS:Fifty seven cases were evaluated: 34 with and 23 without ultrasound anomalies at referral. Each pregnant couple received pretest counseling and extensive posttest genetic counseling. RESULTS:After diagnosis of SL, parental testing and an additional ultrasound examination were offered. The severity of the ultrasound anomalies and not the diagnosis of SL was the most important factor contributing to the decision on pregnancy continuation. In the majority of cases with milder or no ultrasound anomalies, the pregnancy was continued and a normal outcome after birth was observed. CONCLUSIONS:The diagnosis of a SL did not seem to be a reason for termination of pregnancy. Most patients were able to cope with the uncertainty and were interested in both prenatal and postnatal actionability of SL. Long-term follow-up is crucial to assess the actual risks for neurodevelopmental disorders, especially in families with unremarkable history. © 2016 John Wiley & Sons, Ltd.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
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 RJdoi
10.1002/pd.4979subject
Has Abstractpub_date
2017-01-01 00:00:00pages
73-80issue
1eissn
0197-3851issn
1097-0223journal_volume
37pub_type
杂志文章abstract::Growth of cells from amniotic fluid was studied with respect to cell concentration in the inoculum, blood contamination of the fluid, fluid colour, fluid clarity, gestational age of the pregnancy, and growth factors. Dependent variables measured were colony formation, colony size, and colony morphology after 7, 11, an...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030206
更新日期:1983-04-01 00:00:00
abstract::A study of the association between aneuploidy and fetal choroid plexus cysts (CPCs) is presented. By reviewing the world prospective and retrospective studies, one cannot reach an agreed conclusion since different study designs were used and meta analysis is not feasible. Our experience is that as a solitary ultrasono...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:
更新日期:1997-06-01 00:00:00
abstract:OBJECTIVE:To determine the effect of needle and syringe size on the amount of tissue obtained at chorionic villus sampling METHODS:Two needle sizes, 18 and 20 gauge, and two syringe sizes 5 mL and 20 mL, were used to assess samples from term post-partum placentae. Each of the four combinations was tested by 25 aspirat...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/pd.752
更新日期:2003-12-30 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::Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200008)20:8<670::aid-pd885>3.0.c
更新日期:2000-08-01 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: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::Twin-twin transfusion syndrome (TTTS) represents a pregnancy complication with a high risk for perinatal mortality and postnatal morbidity. Mathematical models have been utilized to examine the mechanisms of disease and potential treatment modalities. We developed four consecutive models based on pathophysiology mecha...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1944
更新日期:2008-04-01 00:00:00
abstract::Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybridization (FISH) was ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199703)17:3<255::aid-pd49>
更新日期:1997-03-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to evaluate the accuracy of fetal diffusion-weighted magnetic resonance imaging with apparent diffusion coefficient (ADC) determination to predict postnatal renal function (nadir creatinine at 1 year and eGFR) of men with posterior urethral valves (PUV). METHODS:Between 2003 a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5063
更新日期:2017-07-01 00:00:00
abstract::Reduction in serum requirement for culture of primary human amniotic fluid cells can be achieved by the addition of 10 growth-promoting factors to the nutrient medium. This supplemented medium preserves cell types normally found in amniotic fluid cell cultures supplemented with 20-30 per cent fetal bovine serum. The v...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970050502
更新日期:1985-09-01 00:00:00
abstract::In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Reviews;...
journal_title:Prenatal diagnosis
pub_type:
doi:10.1002/pd.1693
更新日期:2007-11-01 00:00:00
abstract::Problems can arise in prenatal screening for Down syndrome when tests are performed in the first and second trimester and some women who have a negative first trimester test have a second trimester serum test. The second test result does not usually take account of the previous one being negative. Even if it does, it ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2001-09-01 00:00:00
abstract::A new case of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) syndrome is described. The patient presented typical congenital findings in utero, although the syndrome was diagnosed postnatally. The M-CMTC syndrome should be considered when there is a marked fetal overgrowth and progressive macrocephaly...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1081
更新日期:2005-02-01 00:00:00
abstract:OBJECTIVES:Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently, there is debate about the most appropriate invasive method. We sough...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4659
更新日期:2015-10-01 00:00:00
abstract::A de novo mosaic extra structurally abnormal chromosome (ESAC) was detected in 33 per cent of cultured amniotic fluid cells from a pregnant woman. Neither Q-banding nor fluorescence in situ hybridization (FISH) employing a DNA probe for nucleolar organizer region demonstrated the presence of satellites on the ESAC. Sp...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-05-01 00:00:00
abstract::A comparative study of women who underwent prenatal cystic fibrosis (CF) carrier screening by either the 'two-step method' or the 'couple method' was carried out 2-4 years after testing. Recall of the screening test and test result, understanding of the implications of the test result, and reproductive intentions and ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199709)17:9<853::aid-pd151
更新日期:1997-09-01 00:00:00
abstract:OBJECTIVE:To determine the ability to assess the fetal anatomy and ultrasound screening markers using three-dimensional (3D) volumes acquired during the 11th to 13th week scan, in relation to whether a fetal profile could be used as a starting section. METHODS:Post hoc analysis of 3D ultrasound volumes acquired at 11...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2891
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND:Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although biometric measurements of the posterior fossa (PF) are established on fetal ultrasound and MRI, qualitative visual assessments are predomina...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5874
更新日期:2020-11-29 00:00:00
abstract::A relatively simple method of obtaining high resolution chromosomes from amniotic fluid cells is described. The elongated chromosomes are achieved by adding ethidium bromide (5 micrograms/ml) to the culture 4 1/2 hours before harvesting and the high resolution banding can be produced by usual banding procedures. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030315
更新日期:1983-07-01 00:00:00
abstract:OBJECTIVE:Non-invasive prenatal diagnosis of chromosome aneuploidies has been achieved by measuring the ratio of two alleles of a single nucleotide polymorphism (SNP) in circulating placental mRNA (the RNA-SNP allelic ratio approach) in maternal plasma. We investigated the feasibility of applying this approach for the ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2340
更新日期:2009-11-01 00:00:00
abstract:OBJECTIVE:Low levels of maternal serum pregnancy associated plasma protein-A (PAPP-A) have been linked to chromosome anomalies such as trisomy 21, 13 and 18, triploidy and sex chromosome aneuploidy. Low levels of PAPP-A have also been implicated in spontaneous miscarriage. The purpose of this study was to evaluate whet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.407
更新日期:2002-09-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to determine whether fetal nucleated red blood cells (NRBCs) could be distinguished from maternal cells in peripheral blood using an erythroblast scoring system based on the unique morphological and hemoglobin staining characteristics of this cell type. Presumptive fetal NRBCs were f...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1199
更新日期:2005-07-01 00:00:00
abstract::A case of focal nodular hyperplasia of the liver presenting in a 36-week-old fetus is reported. The tumour appeared on antenatal ultrasound as a 4.0 cm x 3.0 cm x 2.7 cm hypoechoic mass at the periphery of the right lobe of the liver. Colour Doppler imaging showed it to have prominent vascularity. Postnatally, sonogra...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140511
更新日期:1994-05-01 00:00:00
abstract:OBJECTIVE:The objective of the study is to examine the incidence of chromosomal or genetic abnormalities in pregnancies complicated by polyhydramnios and to assess the value of prenatal ultrasound findings in the prediction of cases associated with such disorders. METHODS:We searched the prenatal records of all patien...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4851
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD:Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls. Enzyme assay...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5028
更新日期:2017-05-01 00:00:00
abstract::Two severely growth-retarded fetuses found to have maternal uniparental disomy (UPD) for chromosome 16 and trisomy 16 placental mosaicism both had an unfavourable outcome. Antenatally, the first case was complicated by an unexplained raised maternal serum alpha-fetoprotein concentration, preterm premature rupture of t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140817
更新日期:1994-08-01 00:00:00
abstract:OBJECTIVE:To describe brain imaging findings and outcomes in fetuses with confirmed congenital toxoplasmosis (CTX). METHODS:Physicians from Prenatal Diagnosis Units in ten Latin American countries were contacted and asked to provide data on fetuses with ultrasound findings suggestive of intrauterine infection and a po...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2795
更新日期:2011-09-01 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::Published studies have reached varying conclusions as to the benefit of replacing human chorionic gonadotropin (hCG) measurements with the free beta-subunit of hCG (the free beta-subunit) for Down syndrome screening. One study reports 14 per cent higher detection for the free beta-subunit, while another finds an actua...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-03-01 00:00:00