Molecular cytogenetic analysis of term placentae suspected of mosaicism using fluorescence in situ hybridization

摘要: In first-trimester chorionic villus sampling (CVS) for prenatal diagnosis, abnormal chromosomal findings, such as mosaicism, trisomies, or suspect karyotypes, are found more frequently than at amniocentesis. The fact that these abnormalities do not always reflect the fetal karyotype but may be restricted to placenta is a major problem in diagnosis and counselling. this paper we present results of fluorescence situ hybridization (FISH) studies on interphase nuclei three term placentae investigated because false-positive findings CVS. villi first case showed mosaic chromosome pattern involving trisomy 10 cell line normal line, those second total 8 while third complete monosomy X was found. Follow-up amniocentesis each cases revealed karyotype. By using FISH, were able confirm presence aberrant lines, which all confined one part placenta. FISH allows investigation large numbers cells existence numerical aberrations quick reliable way.