Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi.
We report in detail the cytogenetic results of 1838 consecutive chorionic villus samples with the availability of both short-term culture (STC-villi) and long-term culture (LTC-villi) preparations in 1561 cases (84.9%). A high degree of laboratory success (99.5%) and diagnostic accuracy (99.8%) was observed; in four cases of low mosaicism, all four associated with the final birth of a normal child, a small risk of uncertainty was accepted. The combined analysis of STC- and LTC-villi reduced follow-up amniocenteses by one-third in comparison with the analysis of STC-villi alone. We believe that the desired level of quality and accuracy of prenatal cytogenetics in chorionic villi can only be achieved when both STC- and LTC-villi are available. We conclude that CVS might then be the mode of prenatal diagnosis of first choice in pregnancies with a high (cytogenetic) risk.
van den Berg
C
C
Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands. cberg@kgen.fgg.eur.nl
Van Opstal
D
D
Brandenburg
H
H
Wildschut
H I
HI
den Hollander
N S
NS
Pijpers
L
L
Jan H Galjaard
R
R
Los
F J
FJ
D000649:Amniocentesis; D015193:Chorionic Villi Sampling / Q000379:methods* / Q000592:standards; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D005500:Follow-Up Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009030:Mosaicism; D010920:Placenta / Q000502:physiology; D011237:Predictive Value of Tests; D015203:Reproducibility of Results; D012307:Risk Factors