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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

36 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1082-1085
Number of pages4
JournalPrenatal Diagnosis
Volume18
Issue number10
DOIs
Publication statusPublished - Oct-1998

Keywords

  • nucleated red blood cell
  • trisomy 13
  • non-invasive prenatal diagnosis
  • fetal haemoglobin

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