title: Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester.
abstract: First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal 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.
authors.affiliation: Institute of Human Genetics, University of Aarhus, Denmark.
authors.forename: A J
authors.initials: AJ
authors.lastname: Therkelsen
authors.forename: P K
authors.initials: PK
authors.lastname: Jensen
authors.forename: J M
authors.initials: JM
authors.lastname: Hertz
authors.forename: S
authors.initials: S
authors.lastname: Smidt-Jensen
authors.forename: N
authors.initials: N
authors.lastname: Hahnemann
mesh_terms: D001707:Biopsy, Needle; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000473:pathology*; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D025063:Chromosome Disorders; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011256:Pregnancy Outcome; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*