A rare occurrence of three consecutive autosomal trisomic pregnancies in a couple without offspring

Abstract

Background: Trisomies are the most common chromosomal abnormalities, being a major cause of pregnancy loss in the first trimester. Data from preimplantation embryos support the concept of recurrent aneuploidy in women with recurrent abortion. Case: The authors report a rare case with three different consecutive trisomic pregnancies: 47,XY,+21, 47,XX,+9, and 47,XX,+18. All pregnancies resulted from the same relationship and no consanguinity was present. Standard clinical cytogenetic analysis indicated that both members had normal peripheral blood karyotype, with no evidence of mosaicism in either patient or her partner. Conclusion: The present report supports the hypothesis that some women have a higher risk for nondisjunction than others of the same age. Counseling a couple with recurrent trisomies is difficult and future research on genetics of cell division are required to assist them.