Cytogenetic analysis of trophoblasts by comparative genomic hybridization in embryo-fetal development anomalies

Cytogenetic studies of spontaneous abortions or intrauterine fetal death de pend on conventional tissue culturing and karyotyping. This technique has l imitations such as culture failure and selective growth of maternal cells, Fluorescent in situ hybridization (FISH) using specific probes permits diag nosis of aneuploidies but is limited to one or a few chromosomal regions. C omparative genomic hybridization (CGH) provides an overview of chromosomal gains and losses in a single hybridization directly from DNA samples. In a prospective study, we analyzed by CGH trophoblast cells from 21 fetuses in cases of spontaneous abortions, intrauterine fetal death or polymalformed s yndrome. Six numerical chromosomal abnormalities including one trisomy 7, o ne trisomy 10, three trisomies 18, one trisomy 21 and one monosomy X have b een correctly identified by CGH. One structural abnormality of the long arm of chromosome 1 has been characterized by CGH. One triploidy and two balan ced pericentromeric inversions of chromosome 9 have not been identified by CGH. Sexual chromosomal constitutions were concordant by both classical cyt ogenetic technique and CGH. Contribution of trophoblast analysis by CGH in embryo-fetal development anomalies is discussed. Copyright (C) 2001 John Wi ley & Sons, Ltd.