Amniocytes from aneuploidy embryos have enhanced random aneuploidy and signs of senescence — Can these findings be related to medical problems?

Abstract Objectives Genomic aneuploidy is a common cause of human genetic disorders. Individuals with aneuploidy tend to develop malignancies. Recent studies correlated aneuploidy with early aging, senescence and organ dysfunction. This study investigated potential explanations for these increased risks by evaluating random aneuploidy and senescence rates in amniocytes from fetuses with aneuploidy. Methods The rates of random aneuploidy in amniocytes from normal pregnancies were evaluated and compared to amniocytes from fetuses with trisomies 21, 18 and 47,XXY using a FISH technique with X + Y, 9 and 18 probes. Senescence was evaluated by calculating the percentage of amniocytes with fragmented nuclei: senescence associated heterochromatin foci (SAHF), using DAPI staining. Results Significantly increased rates of cells with aneuploidy were observed in trisomies 18 and 21, and 47,XXY (p  Conclusions Higher incidence of random aneuploidy and senescence were observed in amniocytes from fetuses with trisomy. These findings might explain the greater lifetime tendency to develop malignancies and diseases related to early aging in these individuals.