A comparison of the results of various techniques, with special emphasis on mosaicism

Prenatal diagnosis of chromosome abnormalities can be performed on three different samples; chorion villi (CVS), amniotic fluid (AFS) and fetal blood (FBS). We are presenting data from our own experience on the chromosome analysis of 957 CVS, 1000 AFS and 927 FBS. A total of 69 chromosome abnormalities have been detected in the CVS, 38 in the AFS and 115 in the FBS. The type of abnormalities and their frequencies are compared between the three sampling methods. Our findings are in agreement with published data, and the higher incidence of chromosomal aberrations in the FBS group reflect the greater efficiency with which aneuploidies associated with more severe congenital malformation can be detected by ultrasound. Finally, we reported 18 cases of mosaicism in CVS, 76 in AFS and 31 in FBS. Of these cases, only 10 represented a true mosaicism of the fetus, 98 cases have been classified as pseudomosaicisms and 7 identified as maternal contamination. We have encountered 9 cases of mosaicism confined to the chorionic villi and 1 case limited to the amniotic fluid cells. There appeared to be a similarity between trisomies involved in chorion confined mosaicisms and pseudomosaicism cases of the AFS. The chromosome complement of the placenta may play an important role in the development of the pregnancy, and although a mosaic result in prenatal diagnosis could present difficulties in the prediction of the fetal karyotype, it might give important information on the general condition of the fetus.