Cytogenetic analysis of chorionic villi for prenatal diagnosis: An ACC collaborative study of U.K. data

Abstract

A prospective 3‐year collaborative study was undertaken in 1987 to collect cytogenetic data from diagnostic chorionic villus samples (CVS) in the U.K. in order to determine the predictive value of the chromosome abnormalities encountered. Twenty‐seven laboratories contributed a total number of 7595 cases, of which 97·6 per cent were successful. Excluding single cell anomalies, a total of 480 cytogenetic abnormalities were reported, of which 137 were familial structural rearrangements and 343 were de novo problems. Non‐mosaic trisomies of chromosomes 13, 18, and 21 (n=157), non‐mosaic sex chromosome abnormalities (n=33), and triploidy (n=6) were all confirmed in cells of fetal origin where follow‐up information was available. Of the nine remaining non‐mosaics including tetraploidy, trisomies of other autosomes, and extra markers, only a trisomy 16 and a case of a supernumerary marker proved genuine. Eighty‐eight cases of mosaicism were reported to the study, of which only nine were confirmed as genuine: two cases involving chromosome 13, one trisomy 18, two examples of extra marker chromosomes, three 45,X, and one 47,XXX. There were no reports of false‐negative findings. Presumptive maternal cell contamination was encountered in 39 cases, a detected incidence of 0·5 per cent. Four cases of presumptive ‘vanishing twin’ were recorded: in three of these, direct preparations showed a female karyotype, whereas cultures indicated a male (with male fetuses in two cases). The fourth case was of a female fetus with male and female cells in the CVS cultures. Subtle structural chromosome abnormalities were missed in three instances. Accurate prediction of the fetal karyotype was shown to require detailed knowledge of both the nature and the distribution of abnormal cells in the extra‐embryonic tissues. In many cases, this could only be made where results from direct preparations and cultured cells were available. A number of conclusions were reached from these and similar data in the literature regarding the reliability of chromosome findings in CVS.