Objectives: To assess the incidence of (potential) false-negative findings of cytogenetic diagnosis in STC-villi and/or LTC-villi and to determine the best strategy for karyotyping chorionic villi in order to avoid false-negative results. Methods: 2476 chorionic villus samples were received for prenatal cytogenetic investigations. Karyotyping was routinely performed on STC- and LTC-villi preparations by G-banding. Fluorescence in situ hybridization (FISH) analyses were performed in addition to standard chromosome analysis when necessary. Sometimes follow-up investigations like amniocentesis were performed before a definite prenatal cytogenetic result could be reported. Results: In 2389/2476 (96.5%) of the cases, both STC- and LTC-villi were investigated. Normal STC- with abnormal LTC-villi results and finally an abnormal fetal karyotype were detected in ten cases (10/2389; 0.42%); in 9/10 of the cases the indication was fetal ultrasound abnormalities. Normal STC- and LTC-villi and finally an abnormal fetal karyotype were detected in two cases (2/2389; 0.08%). Conclusion: The most reliable technique for prenatal diagnosis after chorionic villus sampling (CVS) is the combination of the analysis of both STC- and LTC-villi to reduce the incidence of false-negative findings to a minimum. In the case of fetal ultrasound abnormalities with a small amount of villi available, the investigation of LTC-villi is recommended over that of STC-villi. Copyright

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doi.org/10.1002/pd.1421, hdl.handle.net/1765/70682
Prenatal Diagnosis
Department of Clinical Genetics

van den Berg, C.D.F, Van Opstal, A.R.M, Polak-Knook, J, & Galjaard, R-J.H. (2006). (Potential) false-negative diagnoses in chorionic villi and a review of the literature. Prenatal Diagnosis (Vol. 26, pp. 401–408). doi:10.1002/pd.1421