Molecular-cytogenetic investigations of ten term placentae in cases of prenatally diagnosed mosaicism.

Discrepant chromosome findings in the placenta and fetus are detected by additional investigations commonly after chorionic villus sampling (CVS) and occasionally after amniotic fluid cell cultures. In this paper we present the results of molecular-cytogenetic investigations (fluorescence in situ hybridization, FISH) of ten term placentae after prenatally detected mosaicism. In three cases, mosaicism was found after first-trimester CVS and in seven cases, after second-trimester amniotic fluid culture. All three results after CVS represented confined placental mosaicism (CPM). Two of the seven mosaic findings after amniocentesis were not confirmed postnatally. In the remaining five cases, general mosaicism was found. The analyses of six defined areas of the term placentae showed that it is important to investigate the placenta at multiple sites. The frequency of a cell line varied by more than 50 per cent at different analysed sites. FISH on interphase nuclei proved to be a rapid and reliable method of investigating large numbers of biopsies and cells per biopsy.