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Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester
Author(s) -
Therkelsen A. J.,
Jensen P. K. A.,
Hertz J. M.,
SmidtJensen S.,
Hahnemann N.
Publication year - 1988
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.1970080104
Subject(s) - karyotype , chorionic villus sampling , chorionic villi , prenatal diagnosis , fetus , andrology , chromosome abnormality , biology , pregnancy , incubation , chromosomal abnormality , in utero , gynecology , chromosome , obstetrics , medicine , genetics , biochemistry , gene
First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after trans‐abdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short‐term method (24 h incubation) and cell culture. Adequate samples were obtained in 99·1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2·0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2·3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short‐term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.