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Retrospective study of trisomy 18 in chorionic villi with fluorescent in situ hybridization on archival direct preparations
Author(s) -
van Opstal Diane,
van den Berg Cardi,
Jahoda Milena G. J.,
Brandenburg Helen,
Los Frans J.,
Veld Peter A. In'T
Publication year - 1995
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.1970150110
Subject(s) - trisomy , chorionic villi , fluorescence in situ hybridization , aneuploidy , karyotype , in situ hybridization , chorionic villus sampling , centromere , biology , chromosome , chromosome abnormality , fetus , placenta , prenatal diagnosis , genetics , pregnancy , gene , gene expression
Trisomy 18 in direct chorionic villus preparations needs further investigation since the chromosome abnormality may be confined to the placenta and may not represent the actual fetal karyotype. We performed, retrospectively, fluorescent in situ hybridization (FISH) with the chromosome 18 centromere probe (L1.84) on interphase nuclei of destained slides of all cases of full trisomy 18 ( n =22) and mosaic trisomy 18 ( n =8) detected among 7600 first‐trimester chorionic villus samples during an 8‐year period (1985–1992). More nuclei displaying three signals were encountered in cases of full and mosaic trisomy 18 confirmed in fetal tissue than in non‐confirmed cases. FISH can be useful for the verification of trisomy 18 in direct chorionic villus preparations.