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Eur J Obstet Gynecol Reprod Biol. 2002 Mar 10;101(2):161-8.

Trisomy 13 or 18 (mosaicism) in first trimester cytotrophoblast cells: false-positive results in 11 out of 51 cases.

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  • 1Department of Clinical Genetics, Academic Medical Centre, P.O. Box 22700, 1100 DE, Amsterdam, The Netherlands. g.h.schuring@amc.uva.nl

Abstract

OBJECTIVE:

The finding of full or mosaic trisomy 13 or 18 in first trimester chorionic villus sampling (CVS) may be a false-positive result. This report provides incidence and outcome information that may be helpful in counselling individual patients and in choosing adequate follow-up.

STUDY DESIGN:

From a series of 6820 CVS cases, we retrospectively collected data on all patients (n=51) with full (n=30) or mosaic (n=5) trisomy 18, and full (n=13) or mosaic (n=3) trisomy 13 in cytotrophoblast cells.

RESULTS:

Five false-positives were seen in patients with full trisomy 18 and three in the mosaic cases. One false-positive result was observed in full trisomy 13 and two false-positives in cases of mosaicism. No false-negative results were reported.

CONCLUSION:

The diagnosis of trisomy 13 or 18 in cytotrophoblasts should be confirmed in other tissues, unless fetal abnormalities are seen at ultrasound. In case of mosaicism, follow-up amniocentesis is advised.

PMID:
11858892
[PubMed - indexed for MEDLINE]
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