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...

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...

This study sought to determine whether a reliable non-invasive prenatal diagnosis (NI-PND) of cystic fibrosis (CF) or spinal muscular atrophy (SMA) can be achieved through analysis of circulating fetal trophoblastic cells (CFTC). The kinetics of CFTC circulation were also studied. CFTC were isolated by isolation by size of epithelial tumour/trophoblastic cells at 9-11 weeks of gestation, before...

OBJECTIVE Analyze indications and type of prenatal diagnostic procedures performed. METHOD This retrospective audit was conducted at a dedicated fetal medicine center in Petaling Jaya. All invasive prenatal diagnosis procedures performed from 2003 up until 2010 (amniocentesis, chorionic villous sampling and fetal blood sampling) were analyzed. RESULT A total of 1560 invasive prenatal diagno...