Genetic Studies of Pregnancy Loss |Biomedgrid

Pregnancy loss is known as the death of an unborn fetus at any time during pregnancy. It is a complex disorder that affects 10% of clinical pregnancies. Both genetic and environmental factors are associated with the condition. Various experimental techniques, including conventional karyotyping, array-based applications, and whole exon/genome sequencing, have contributed to discovering the genetic pathology of pregnancy loss. Studies have shown that abnormalities such as aneuploidy, translocation, copy number variation, mutation, mosaicism, and epigenetic changes are involved in the development of pregnancy loss. Here, we review previous studies that utilized cytogenetic and molecular genetic tools to investigate the cause of pregnancy loss in terms of the whole genome.