Genetic factors in recurrent pregnancy loss

Technologies such as fluorescent in situ hybridization (FISH) are facilitating analysis of tissue that cannot be cultured. Increasing recognition and knowledge of confined placental mosaicism are giving us greater appreciation of the role of aneuploidies in cases of spontaneous and recurrent abortion. Newer molecular analyses suggest important roles for single-gene mutations, X inactivation, and imprinting effects. In the coming years, our increased understanding of the genetics of recurrent spontaneous abortion should result in new and more expedient diagnoses and potential treatments.