Assessing patient perceptions and understandings of genetic testing after pregnancy loss

The ACOG and ASRM practice guidelines recommend cytogenetic testing after two pregnancy losses. This study aimed to evaluate patients' understandings of the benefits and limitations of genetic testing, feelings, motivations, and hesitations regarding genetic testing, effect of genetic findings on family planning, and to discern the areas of potential clinical improvement.

An anonymous online survey collected responses regarding frequency and outcomes of testing, family history, patients' perceptions regarding benefits and utility of genetic testing, and likelihood of utilizing various reproductive options. Results were compared between participants with a single miscarriage (SM) and recurrent pregnancy losses (RPL).

Out of 218 qualified respondents, 198 (90.8%) completed the entire survey. Overall, 92.1% of respondents were interested in genetic testing to find an explanation for miscarriage. Genetic testing on the miscarriage tissue was offered to 55.4% of respondents (63.7% with RPL and 46.0% with SM). Parental genetic testing was offered to 67.9% of patients and 54.5% of their partners with RPL and to 27.6% of individuals and 18.4% of their partners with SM. Genetic testing provided an explanation for the miscarriage for an approximately equal proportion of SM and RPL respondents. Knowing a genetic cause, respondents would be more likely to utilize preimplantation genetic screening or prenatal testing than egg/sperm donation or adoption.

Genetic testing is highly desired by patients to aid in decision making about future pregnancies, but many are not offered testing despite meeting practice guidelines, indicating the need for more widespread implementation of practice guidelines.