The dilemma of chromosomal mosaicism in chorionic villus sampling—‘direct’ versus long‐term cultures
- 1 April 1989
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 9 (4) , 223-226
- https://doi.org/10.1002/pd.1970090402
Abstract
Chromosomal mosaicism is one of several unanswered dilemmas in first‐trimester prenatal diagnosis. We report the course of a pregnancy in which a normal karyotype was detected on direct CVS preparation and fetal blood, 100 per cent trisomy 21 in one long‐term CVS culture, and low‐rate trisomy 21 mosaicism in a second long‐term CVS culture and amniocentesis. The phenotypically normal infant had a 6 per cent mosaicism of trisomy 21. It appears that a persistent low‐rate mosaicism in different tissues may be indicative of the true status of the fetus.Keywords
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