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Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy following normal fetal blood sampling
Author(s) -
Berghella Vincenzo,
Wapner Ronald J.,
YangFeng T.,
Mahoney Maurice J.
Publication year - 1998
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/(sici)1097-0223(199804)18:4<384::aid-pd263>3.0.co;2-4
Subject(s) - amniocentesis , trisomy , fetus , biopsy , prenatal diagnosis , chorionic villus sampling , amniotic fluid , aneuploidy , cell free fetal dna , medicine , obstetrics , pathology , pregnancy , chromosome , biology , genetics , gene
Trisomy 22 mosaicism diagnosed at 20 weeks' gestation by amniocentesis in a 35‐year‐old woman was not confirmed by fetal blood sampling. Subsequent fetal skin biopsy revealed trisomy 22 in 7 of the 15 fibroblasts analysed. We conclude that, depending on the chromosome involved, fetal skin biopsy should be considered in the diagnostic work‐up when mosaicism is found in amniotic fluid. © 1998 John Wiley & Sons, Ltd.