The relationship between maternal body mass, smoking status and ethnicity and first trimester nuchal translucency thickness.


OBJECTIVE:To investigate the existence of a relationship between maternal body mass, maternal ethnicity and maternal smoking status and nuchal translucency (NT) in the first trimester of pregnancy. METHODS:NT measurements from 130 339 euploid, singleton pregnancies were converted to NT multiples of the median (MoM) and delta NT using expected medians determined using regression analysis. Relationships between maternal body mass index (BMI), maternal weight, maternal ethnicity and maternal smoking status and NT MoM and delta NT were examined. RESULTS:NT increased with gestational age. Uncorrected NT MoM and delta NT demonstrated small but significant positive relationships with either maternal BMI or maternal weight. Both NT MoM and delta NT were slightly, but significantly, increased in smokers compared to non-smokers and Afro-Caribbean compared to Caucasians, and slightly, but significantly, decreased in Asians compared to Caucasians. CONCLUSION:Although statistically significant, all the changes reported are likely to be too small to be relevant in terms of correcting in prenatal screening.


Prenat Diagn


Prenatal diagnosis


Cowans NJ,Spencer K




Has Abstract


2011-05-01 00:00:00












  • Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection.

    abstract:OBJECTIVE:To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS:Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected individuals, the affected...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Nielsen JE,Koefoed P,Kjaergaard S,Jensen LN,Nørremølle A,Hasholt L

    更新日期:2004-05-01 00:00:00

  • Inaccurate estimation of risk in second trimester serum screening for Down syndrome among women who have already had first trimester screening.

    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


    authors: Hackshaw AK,Wald NJ

    更新日期:2001-09-01 00:00:00

  • Evaluation of regional left ventricular longitudinal function in 151 normal fetuses using velocity vector imaging.

    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

    pub_type: 杂志文章


    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

  • Prevalence of steroid sulfatase deficiency in California according to race and ethnicity.

    abstract:OBJECTIVE:Estimate steroid sulfatase deficiency (STSD) prevalence among California's racial/ethnic groups using data from a previous study focused on prenatal detection of Smith-Lemli-Opitz syndrome (SLOS). SLOS and STSD both have low maternal serum unconjugated estriol (uE3) levels. METHODS:Prevalence was estimated u...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Craig WY,Roberson M,Palomaki GE,Shackleton CH,Marcos J,Haddow JE

    更新日期:2010-09-01 00:00:00

  • The Genoa experience of prenatal diagnosis in NF1.

    abstract::Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder with an incidence of about 1 in 3500 live births. Symptoms are highly variable from a few cafè-au-lait spots and axillary freckling to plexiform neurofibromas, optic gliomas, pseudarthrosis, and malignancy. Since disease causing mutations are dispersed t...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Origone P,Bonioli E,Panucci E,Costabel S,Ajmar F,Coviello DA

    更新日期:2000-09-01 00:00:00

  • First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association.

    abstract::Congenital megalourethra is a rare disorder. We present an early case diagnosed in the first trimester. Prenatal ultrasound showed a megalourethra with a normal fetal bladder, hyperechogenic cystic right kidney and single umbilical artery. After termination of pregnancy, necropsy confirmed all sonographic findings and...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Krapp M,Geipel A,Germer U,Krokowski M,Gembruch U

    更新日期:2002-05-01 00:00:00

  • Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray.

    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

    pub_type: 杂志文章


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

    更新日期:2009-12-01 00:00:00

  • Reference charts and equations of Korean fetal biometry.

    abstract:OBJECTIVE:To construct new reference charts and equations for fetal biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC) and femur diaphysis length (FDL) from Korean fetuses at 12-40 weeks. METHOD:Prospective cross-sectional data obtained in one center for 5 years from a population of pregn...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Jung SI,Lee YH,Moon MH,Song MJ,Min JY,Kim JA,Park JH,Yang JH,Kim MY,Chung JH,Cho JY,Kim KG

    更新日期:2007-06-01 00:00:00

  • Fetal cells and DNA in maternal blood.

    abstract::Although fetal cells have been known to escape to the maternal circulation for a number of years, research attempts to use them for prenatal diagnosis have not had any consistent success. This review attempts to trace the history of such attempts and to document their progress and reasons for success or failure. The o...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Jackson L

    更新日期:2003-10-01 00:00:00

  • Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.

    abstract::Arthrogryposis multiplex congenita (AMC) refers to an aetiologically heterogenous condition, which consists of joint contractures affecting two or more joints starting prenatally. The incidence is approximately one in 3000 live births; however, the prenatal incidence is higher, indicating a high intrauterine mortality...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Niles KM,Blaser S,Shannon P,Chitayat D

    更新日期:2019-08-01 00:00:00

  • Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 21.

    abstract:OBJECTIVE:To explore the copy number variants (CNVs) in case of fetal duodenal obstruction (DO) and assess the associated prenatal findings and postnatal outcomes. MATERIALS AND METHODS:This retrospective study reviewed 51 fetuses with DO and the findings of chromosomal microarray analysis (CMA) used as a first-tier t...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Zhang W,Lei T,Fu F,Deng Q,Li R,Wang D,Yang X,Li D,Liao C

    更新日期:2020-09-30 00:00:00

  • Outcome of fetal cerebral posterior fossa anomalies.

    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

    pub_type: 杂志文章


    authors: Long A,Moran P,Robson S

    更新日期:2006-08-01 00:00:00

  • Biometric assessments of the posterior fossa by fetal MRI: A systematic review.

    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


    authors: Mckinnon K,Kendall GS,Tann CJ,Dyet L,Sokolska M,Baruteau KP,Marlow N,Robertson NJ,Peebles D,Srinivasan L

    更新日期:2020-11-29 00:00:00

  • The performance of cardio-biparietal ratio measured by 2D ultrasound in predicting fetal hemoglobin Bart disease during midpregnancy: A pilot study.

    abstract:OBJECTIVE:The aim of this study was to assess the performance of cardio-biparietal ratio measured by real-time two-dimensional ultrasound in predicting hemoglobin (Hb) Bart disease among fetuses at risk. METHOD:This prospective diagnostic study recruited pregnancies at risk for Hb Bart disease at 17 to 22 weeks' gesta...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Traisrisilp K,Sirilert S,Tongsong T

    更新日期:2019-07-01 00:00:00

  • High resolution chromosome analysis and in situ hybridization on amniotic fluid for diagnosis of a cryptic translocation.

    abstract::We report a cryptic translocation ascertained in a family after the birth of a mentally retarded proband. High resolution chromosome examination revealed that the father had a subtle translocation between chromosome 5 and chromosome 13, 46, XY, t(5;13) (q35.2;q34). Two specific, non-routine techniques were associated ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Guichet A,Briault S,Moraine C

    更新日期:1998-04-01 00:00:00

  • Antenatal sonographic findings of right pulmonary agenesis with ipsilateral microtia: a possible new laterality association.

    abstract::Right pulmonary agenesis is a rare congenital malformation which results in secondary dextrocardia in situs solitus. Ipsilateral microtia in this context composes a laterality syndrome. The prenatal sonographic findings of this abnormality have not been previously reported. We describe the association of dextrocardia ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Maymon R,Schneider D,Hegesh J,Herman A,Weinraub Z,Achiron R

    更新日期:2001-02-01 00:00:00

  • Fetal brain injury in complicated monochorionic pregnancies: diagnostic yield of prenatal MRI following surveillance ultrasound and influence on prognostic counselling.

    abstract:OBJECTIVE:This study aimed to determine the additional diagnostic information provided by prenatal (fetal) magnetic resonance imaging (pMRI) following tertiary ultrasound (US) for fetal cranial abnormalities in complicated monochorionic gestations. METHODS:Women with complicated monochorionic gestations complicated by...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Robinson A,Teoh M,Edwards A,Fahey M,Goergen S

    更新日期:2017-06-01 00:00:00

  • Prenatal diagnosis of a fetus with distal 10q trisomy.

    abstract::Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Chen CP,Shih JC,Lee CC,Chen LF,Wang W,Wang TY

    更新日期:1999-09-01 00:00:00

  • Invasive assessment of fetal renal abnormalities: urinalysis, fetal blood sampling and biopsy.

    abstract::There are a number of potential biochemical markers that may have some role in predicting renal function postnatally. These include urinary sodium, calcium and beta2-microglobulin. The latter may also be measured in fetal serum. However, the accuracy of these parameters at a point in time is far from perfect as urinar...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审


    authors: Nicolini U,Spelzini F

    更新日期:2001-11-01 00:00:00

  • Second trimester maternal serum ADAM12 levels in Down's syndrome pregnancies.

    abstract:OBJECTIVE:To estimate the utility of maternal serum ADAM12 as a Down's syndrome marker. METHODS:Samples from 71 Down's syndrome affected pregnancies were retrieved from - 20 degrees C storage together with 710 controls matched for gestation and storage time. ADAM12 was measured prior to identification of the affected ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Donalson K,Turner S,Wastell H,Cuckle H

    更新日期:2008-10-01 00:00:00

  • Community attitudes to cystic fibrosis carrier testing in England: a pilot study.

    abstract::Inexpensive and accurate carrier testing for cystic fibrosis (CF) will be possible in the near future. There are no existing studies on the attitudes of English persons in the community to carrier testing for CF or any other recessive disorder. We have conducted a trial study of 166 persons at two schools, two doctors...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Williamson R,Allison ME,Bentley TJ,Lim SM,Watson E,Chapple J,Adam S,Boulton M

    更新日期:1989-10-01 00:00:00

  • Unilateral congenital short femur: a case report.

    abstract::A case of congenital short femur in an otherwise healthy infant is described. Antenatal sonographic diagnosis was made at 26 weeks of gestation. The left femur was shorter than the right (ratio 0.82-0.85). In this case, the occurrence of congenital short femur was sporadic. The diagnosis was confirmed after delivery. ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Ashkenazy M,Lurie S,Ben-Itzhak I,Appelman Z,Caspi B

    更新日期:1990-01-01 00:00:00

  • The relationship of angiogenic factors to maternal and neonatal manifestations of early-onset and late-onset preeclampsia.

    abstract:OBJECTIVE:An imbalance between angiogenic and antiangiogenic factors has been implicated in the pathogenesis and severity of preeclampsia. In this study, we evaluated serum levels of an angiogenic factor and an antiangiogenic factor - placental growth factor (PlGF) and soluble fms-like tyrosine kinase 1 (sFlt-1), respe...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Pinheiro CC,Rayol P,Gozzani L,Reis LM,Zampieri G,Dias CB,Woronik V

    更新日期:2014-11-01 00:00:00

  • Predicting postnatal renal function of prenatally detected posterior urethral valves using fetal diffusion-weighted magnetic resonance imaging with apparent diffusion coefficient determination.

    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


    authors: Faure A,Panait N,Panuel M,Alessandrini P,D'Ercole C,Chaumoitre K,Merrot T

    更新日期:2017-07-01 00:00:00

  • First and early second-trimester diagnosis of fetal urinary tract anomalies using transvaginal sonography.

    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

    pub_type: 杂志文章


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

    更新日期:1990-10-01 00:00:00

  • Prenatal diagnosis of Conradi's syndrome. Case report.

    abstract::A case is described of the diagnosis by ultrasound scanning during the second trimester of Conradi-Hünermann's syndrome (asymmetrical rhizomelic limb shortening or chondrodysplasia calcificans punctata). The prenatal diagnosis of limb shortening deformities is discussed. ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Tuck SM,Slack J,Buckland G

    更新日期:1990-03-01 00:00:00

  • Prenatal diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity.

    abstract:OBJECTIVE:To assess the outcome of fetuses who had sonographic features suggestive of Pierre Robin Sequence (PRS). METHOD:All prenatal ultrasounds that mentioned 'posterior cleft palate', or 'micro or retrognathia' or 'PRS' over 13 and 20 years, respectively, at two obstetrical centers were reviewed. Medical records f...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Lind K,Aubry MC,Belarbi N,Chalouhi C,Couly G,Benachi A,Lyonnet S,Abadie V

    更新日期:2015-09-01 00:00:00

  • Recurrences of free trisomy 21: analysis of data from the National Down Syndrome Cytogenetic Register.

    abstract:OBJECTIVES:To determine the recurrence risk of a free trisomy 21 pregnancy. METHODS:Data from the National Down Syndrome Cytogenetic Register (NDSCR), which contains information on nearly all cases of Down syndrome between 1989 and 2001 in England and Wales were used. Among 11 281 women with a Down syndrome pregnancy ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Morris JK,Mutton DE,Alberman E

    更新日期:2005-12-01 00:00:00

  • A second case of intrauterine growth retardation and primary hypospadias associated with a trisomy 22 placenta but with biparental inheritance of chromosome 22 in the fetus.

    abstract::We report a case of severe intrauterine growth retardation (IUGR) and hypospadias in association with trisomy 22 diagnosed following chorionic villus sampling (CVS). Subsequent analysis of amniotic fluid cultures showed a normal male karyotype, 46,XY. As a previous case had been reported with similar abnormalities, in...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章


    authors: Bryan J,Peters M,Pritchard G,Healey S,Payton D

    更新日期:2002-02-01 00:00:00

  • Prenatal brain imaging in congenital toxoplasmosis.

    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


    authors: Malinger G,Werner H,Rodriguez Leonel JC,Rebolledo M,Duque M,Mizyrycki S,Lerman-Sagie T,Herrera M

    更新日期:2011-09-01 00:00:00