Chromosome Abnormalities in Human Pregnancy Wastage: A Review of Cytogenetic and Molecular Analyses

Pregnancy loss occurs with astonishing frequency in our species. From studies involving couples attending assisted reproduction facilities, it is clear that a large proportion of conceptuses perish in the earliest stages of pregnancy. However, even among those pregnancies that survive to the time of clinical recognition (about 6-8 weeks gestation), at least 15%–20% terminate as spontaneous abortions (SABs). In this review we focus on the contribution of chromosome abnormalities to SABs, summarizing methodologies used to detect them and factors contributing to their occurrence.