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Management of prenatally detected trisomy 8 mosaicism
Author(s) -
van Haelst M. M.,
Van Opstal D.,
Lindhout D.,
Los F. J.
Publication year - 2001
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.215
Subject(s) - trisomy , amniocentesis , chorionic villi , chorionic villus sampling , prenatal diagnosis , cytotrophoblast , fetus , aneuploidy , karyotype , biology , placenta , pathology , medicine , pregnancy , genetics , chromosome , gene
We report on ten pregnancies with trisomy 8 mosaicism. Nine cases were prenatally detected in chorionic villi ( n =6), amniotic fluid (AF) cells ( n =2) or fetal blood (FB) lymphocytes ( n =1). Follow‐up laboratory investigations showed confined placental mosaicism (CPM) or pseudomosaicism in eight cases. In one case with ultrasound abnormalities, trisomy 8 mosaicism was detected in FB cells although cultured AF cells showed normal cells only. Another case of mosaic trisomy 8 was prenatally missed; cytogenetic analysis of short‐term cultured villi revealed a normal male karyotype, while postnatally, trisomy 8 mosaicism was detected in peripheral blood lymphocytes and skin fibroblasts of the affected child. These findings indicate the difficulties in the prenatal diagnosis of trisomy 8 mosaicism. When found in chorionic villi, it mostly represented CPM, while in a case of true fetal trisomy 8 mosaicism, the cytotrophoblast cells showed a normal karyotype. So, the cytotrophoblast compartment of chorionic villi is a poor indicator of the presence or absence of fetal trisomy 8 mosaicism. Follow‐up investigations including amniocentesis and especially fetal blood sampling are required to come to a definite prenatal diagnosis of trisomy 8 mosaicism. Copyright © 2001 John Wiley & Sons, Ltd.