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Eur J Obstet Gynecol Reprod Biol ; 101(2): 161-8, 2002 Mar 10.
Article in English | MEDLINE | ID: mdl-11858892

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.


Subject(s)
Chorionic Villi Sampling , Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 18 , False Positive Reactions , Pregnancy Trimester, First , Trisomy/diagnosis , Amniocentesis , Female , Humans , Mosaicism , Pregnancy , Pregnancy Outcome , Retrospective Studies , Trophoblasts
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