First-trimester chorionic villus sampling has not reached the popularity of second-trimester amniocentesis in prenatal cytogenetic diagnosis, in contrast to initial expectations. We investigated whether a difference in the diagnostic performances of cytogenetic investigation in amniotic fluid (AF) cells and chorionic villi in favour of AF-cells might justify this. Diagnostic performance was measured as laboratory failure rate, karyotype quality (G-band score, rate of follow-up samples, rate of wrong diagnoses), and karyotype representativity (rate of follow-up samples, rate of wrong diagnoses). From 1993-1999, 11 883 AF-samples were investigated (AF-cells). In chorionic villi, short term culture preparations solely were karyotyped from 1993-1996 (n=3499) (STC-villi), short and long-term culture preparations simultaneously provided a sufficient amount of tissue being available from 1997 onwards (n=1829) ((STC+LTC)-villi). Laboratory failure rates were the same after amniocentesis (0.40%) and chorionic villus sampling (0.50%). G-band scores (mean±SD) were equal in AF-cells (373±38.1) and LTC-villi (364±32.6) but significantly lower in STC-villi (311±34.6) (p=0.001). Follow-up sampling rates because of quality reasons were the same in AF-cells (0.14%), STC-villi (0.13%) and (STC+LTC)-villi (0.11%). Two wrong diagnoses turned up among AF-cells. Follow-up sampling rates because of representativity reasons differed significantly between AF-cells (0.10%), (STC+LTC)-villi (1.31%), and STC-villi (1.99%) (p<0.001). However, the ratios of the total numbers of follow-up samples and uncertain or abnormal cytogenetic results in STC, and (STC+LTC)-villi at cytogenetic risks ≥3% (0.132 and 0.160, respectively) were equal to that in AF-cells at risks <3% (0.155). Two wrong diagnoses were made in STC-villi. Diagnostic performance improved in the rank order of STC-villi, (STC+LTC)-villi and AF-cells. At cytogenetic risks ≥3%, (STC+LTC)-villi showed a diagnostic performance equal to that in AF-cells. This might justify a selective use of chorionic villus sampling. Copyright

Amniotic fluid, Chorionic villi, Cytogenetics, Diagnostic performance,
Prenatal Diagnosis
Department of Gynaecology & Obstetrics

Los, F.J, van den Berg, C.D.F, Wildschut, H.I.J, Brandenburg, H, den Hollander, N.S, Schoonderwaldt, E.M, … Van Opstal, A.R.M. (2001). The diagnostic performance of cytogenetic investigation in amniotic fluid cells and chorionic villi. Prenatal Diagnosis, 21(13), 1150–1158. doi:10.1002/pd.194