Genetic abnormalities and pregnancy loss

Genetic abnormalities, whether occurring in the conceptus or the parents, can predispose to sporadic or recurrent pregnancy loss (RPL). Abnormalities in the conceptus include aneuploidy, copy number changes, skewed X inactivation, and single gene disorders or mutations. Among parents who suffer RPL, the best studied genetic cause is balanced chromosomal translocations. For evaluation of genetic abnormalities in cases of pregnancy loss, chromosomal microarray is more likely to yield interpretable results than karyotype due to cell culture failure. For parents, karyotype remains the standard since microarray may not detect truly balanced translocations. For those with an identified underlying genetic abnormality, preimplantation genetic testing has been proposed to optimize the live birth rate. This approach shows promise, but currently lacks supporting evidence. In summary, various genetic causes for recurrent pregnancy loss are known, but when such a cause is identified, the implications for management remain unclear.