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The dilemma of chromosomal mosaicism in chorionic villus sampling—‘direct’ versus long‐term cultures
Author(s) -
Nisani R.,
Chemke J.,
Voss R.,
Appelman Z.,
Caspi B.,
Lewin A.,
Dar H.,
Reiter A.
Publication year - 1989
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970090402
Subject(s) - chorionic villus sampling , chorionic villi , karyotype , andrology , term (time) , cytogenetics , biology , genetics , gynecology , medicine , chromosome , prenatal diagnosis , pregnancy , fetus , gene , physics , quantum mechanics
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.