Premium
The diagnostic performance of cytogenetic investigation in amniotic fluid cells and chorionic villi
Author(s) -
Los Frans J.,
van den Berg Cardi,
Wildschut Hajo I. J.,
Brandenburg Helen,
den Hollander Nicolette S.,
Schoonderwaldt Ernst M.,
Pijpers Leen,
Jan H. Galjaard Robert,
Van Opstal Diane
Publication year - 2001
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.194
Subject(s) - chorionic villi , chorionic villus sampling , amniocentesis , prenatal diagnosis , amniotic fluid , gynecology , medicine , andrology , karyotype , obstetrics , pregnancy , biology , fetus , chromosome , genetics , gene
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 inthe 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 © 2001 John Wiley & Sons, Ltd.