Confined placental mosaicism and stillbirth

The cause of stillbirth can usually be determined in only 20% of cases. An increased frequency of adverse pregnancy outcome, including pregnancy loss, intrauterine growth restriction, and premature labor, has been observed in association with confined placental mosaicism (CPM), which is characterized by a discrepancy between the karyotype of the fetus and placenta. Specific chromosomal trisomies have been observed in CPM more frequently than others, with trisomy of chromosomes 7, 16, and 18 being the most prevalent. In pregnancies with CPM it has been shown that the zygote is often trisomic, and postzygotic loss of the additional chromosome occurred in the embryonic progenitor cells leading to a dichotomy between the placenta and the embryo/fetus. In one third of such cases fetal uniparental disomy (UPD), which is the presence of both homologues of a chromosome derived from one parent, can be expected. The specific role of the trisomic placenta and the presence of fetal UPD in cases of altered intrauterine fetal development has not been fully established for various chromosomes. Therefore, to enhance our understanding of the pathogenesis of stillbirth it is imperative that cytogenetic analysis of both fetal and placental tissues be performed in all cases of unexplained stillbirth.