Differences of sexual development: genetic counseling considerations in the prenatal setting

With the rapid adoption of noninvasive prenatal screening (NIPS), predictive fetal sex information is available early in pregnancy. This information can conflict with the results of other prenatal tests such as fetal ultrasound or diagnostic testing and raise the possibility of a fetal difference of sexual development (DSD). In this review, we describe recent studies examining the counseling and outcomes of prenatally suspected DSD.

Discordance in prenatal genetic testing results can cause confusion and anxiety in families as expectations of testing are not often discussed in detail prior to testing. There are no established guidelines for the counseling or management of such situations.

We present case vignettes to highlight relevant counseling points and considerations to aid in the development of guidelines and best practices in the management of DSD in the prenatal setting.