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Chromosome mosaicism and maternal cell contamination in chorionic villi
Author(s) -
Cheung Sau W.,
Crane James P.,
Beaver Heidi A.,
Burgess Ann C.
Publication year - 1987
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.1970070802
Subject(s) - chorionic villus sampling , amniocentesis , chorionic villi , chromosome , prenatal diagnosis , biology , in utero , genetics , obstetrics , andrology , pregnancy , fetus , medicine , gene
While chorionic villus sampling allows both early and rapid prenatal diagnosis of chromosome disorders, the accuracy of this technique has not been fully established. Maternal cell contamination and pseudomosaicism represent two major sources of diagnostic error. Combined use of both direct chromosome preparations and villus cultures is important in overcoming these problems. Direct preparations of villus tissue allow recognition of maternal cell contamination of villus cultures. Conversely, villus cultures yield higher resolution chromosomes and may be helpful in differentiating between true versus pseudomosaicism when two or more cell lines are identified in direct chromosome preparations. Preliminary data suggest that analysis of direct preparations from multiple individually processed villus fragments may also be of value in this regard. Until more experience is gained, mid‐trimester amniocentesis should be offered to CVS patients when mosaicism is encountered.