Chromosomal Microarray Testing for the Evaluation of Early Pregnancy Loss and Intrauterine Fetal Demise

There may be several motivations for clinicians and patients to undertake an evaluation for the cause of a single or recurrent early pregnancy loss. The knowledge that an early pregnancy loss is secondary to a sporadic genetic abnormality may provide parents with reassurance that there was nothing that they did or did not do that contributed to the loss, although the magnitude of this benefit is difficult to quantify. For couples with recurrent pregnancy loss and evidence of a structural genetic abnormality in one of the parents, preimplantation genetic diagnosis with transfer of unaffected embryos or the use of donor gametes might be considered for therapy. These therapies might be considered for couples with recurrent pregnancy loss without evidence of a structural genetic abnormality in one of the parents; guidelines on the management of recurrent pregnancy loss from ASRM state that “treatment options should be based on whether repeated miscarriages are euploid, aneuploidy, or due to an unbalanced structural rearrangement and not exclusively on the parental carrier status.” Finally, among patients who are found to have a potential nongenetic underlying cause of recurrent pregnancy loss, such as antiphospholipid syndrome, cytogenetic analysis of pregnancy losses may provide evidence that the miscarriages were not due to treatment failure.