OBJECTIVE To compare the experiences of women who received a screen-positive test result for Down syndrome after nuchal translucency screening or after biochemical screening in the first trimester of pregnancy in the Netherlands. METHOD Semi-quantitative questionnaires were sent to 40 women with a screen-positive test result for Down syndrome in the first trimester of pregnancy: 20 had underg...

Hydatidiform moles (HMs) are abnormal human pregnancies with vesicular chorionic villi, imposing two clinical challenges; miscarriage and a risk of gestational trophoblastic neoplasia (GTN). The parental type of most HMs are either diandric diploid (PP) or diandric triploid (PPM). We consecutively collected 154 triploid or near-triploid samples from conceptuses with vesicular chorionic villi. W...

Chromosomal abnormalities are major causes of perinatal death and childhood handicap. Consequently, the detection of chromosomal disorders constitutes the most frequent indication for invasive prenatal diagnosis. However, invasive testing, by amniocentesis, chorionic villus sampling (CVS) or cordocentesis, is associated with a risk of miscarriage of about 1% and therefore these tests are carrie...

A register of families with Duchenne muscular dystrophy (DMD) in Wales was set up in 1973 and has been regularly maintained ever since. All women at significant risk in these families were offered estimation of their carrier status by creatine kinase and pedigree analysis. A total of 225 of the 512 women tested was assigned a risk of carrying the DMD gene of less than 5%. One hundred and twenty...

OBJECTIVE To examine the significance of fetal nuchal translucency at 10-14 weeks' gestation in the prediction of abnormal fetal karyotype. DESIGN Prospective screening study. SETTING The Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London. SUBJECTS 827 fetuses undergoing first trimester karyotyping by amniocentesis or chorionic villus sampling. MAIN OU...

Lesion of toxemia in first trimester pregnan­cies: Lesion of toxemia of pregnancy, compris­ing desidual arteriolar thickening, narrowing, degeneration, and endothelial vacuolization with trophoblastic degeneration and fibrin thrombi attached to degenerated chorionic villi, were evident in 46 (14.1 per cent) of 326 induced first trimester abortioruJ. No clinical features of toxemia were present,...

Trisomy 9 is a rare chromosomal abnormality with a very poor prognosis depending mostly on the amount and exact location of the duplicated genetic material. Most of the fetuses with complete trisomy 9 are spontaneously aborted in the early first trimester and therefore it is uncommonly seen at the time of 11-14 weeks’ scan. The diagnosis is usually made after fetal karyotyping performed for rou...