Prenatal diagnosis of trisomy 13 on fetal cells obtained from maternal blood after minor enrichment

JC Oosterwijk*, WE Mesker, MCM Ouwerkerk-Van Velzen, CFHM Knepfle, KC Wiesmeijer, GC Beverstock, Gert-Jan B. van Ommen, HJ Tanke, HHH Kanhai

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

36 Citaten (Scopus)


In a pilot study to establish fetal nucleated red blood cell (NRBC) detection in maternal blood, trisomy 13 was diagnosed by FISH analysis at 11 weeks' gestation. The NRBCs were detected after a single-step ficoll density gradient enrichment. In blood samples taken both before and after CVS, 52 and 80 NRBCs, respectively, were found to be positive for fetal haemoglobin. In 47 per cent of these cells. FISH analysis for X and Y chromosomes confirmed the fetal sex. Moreover, 48 per cent of these NRBCs showed three fluorescent signals for a chromosome 13 probe, which confirmed the diagnosis of trisomy 13, previously detected at CVS karyotyping. This is the first report of non-invasive prenatal diagnosis of trisomy 13, i.e., pre-CVS, in the first trimester. The high number of fetal NRBCs detected indicates a connection with aneuploidy, probably due to early impairment of the fete-maternal barrier. (C) 1998 John Wiley & Sons, Ltd.

Originele taal-2English
Pagina's (van-tot)1082-1085
Aantal pagina's4
TijdschriftPrenatal Diagnosis
Nummer van het tijdschrift10
StatusPublished - okt-1998

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