Prenatal detection and evaluation of differences of sex development: A qualitative interview study of parental perspectives and unmet needs

Abstract

Objectives: Prenatal diagnoses of differences of sex development (DSD) are increasing due to availability of cell-free DNA screening (cell-free DNA screening (cfDNA)). This study explores first-hand experiences of parents whose children had prenatal findings of DSD.Methods: Eligible parents were identified through chart review at a pediatric center and interviewed about their prenatal evaluation, decision making, informational sources, and support systems. Interviews were coded using a combined inductive and deductive thematic analysis. Parents also completed quantitative measures of decisional regret.Results: Seventeen parents (13 mothers; 4 fathers) of 13 children (with 7 DSD diagnoses) were recruited. Four children had discordance between sex predicted by cfDNA versus prenatal ultrasound, and 2 had non-binary appearing (atypical) genitalia on prenatal ultrasound. Of these 6, 3 were not offered additional prenatal testing or counseling.

Comparison of web-based information about cell-free DNA prenatal screening: implications for differences of sex development care

“…The medical community has recognized that attention to consumer education and assessment of the accuracy of information provided by CCs are inadequate (6, 17). As expected, a significant number of expectant parents access information about cfDNA through website Our team has encountered expectant parents who were referred to our multidisciplinary DSD program for further investigations due to discordant results between cfDNA predicted fetal sex and US findings, or other prenatal suspicion of DSD such as atypical genitalia on US with concern for sex chromosome DSD on cfDNA (35,36). These prenatal results represented both false positives (e.g., Y chromosome material detected due to vanishing twin) and true positives (e.g.…”

“…Y chromosome material detected due to complete androgen insensitivity syndrome) (36). Many of these parents were experiencing distress, confusion, anxiety, and depression (35). Two mothers were even considering pregnancy termination.…”

“…Two mothers were even considering pregnancy termination. One mother reported that she had a "breakdown" when she received diagnosis, and she was considering pregnancy termination and having suicidal thoughts (35). Concerningly, it has been reported that 6.2% of women will terminate their pregnancy, based on the positive cfDNA screening result, without confirming the diagnosis with a conventional and diagnostic invasive test, such as CVS or amniocentesis (37).…”

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

“…The wide range of conditions and the multiple genetic and nongenetic tests for fetal sex screening create unique challenges in counseling. Furthermore, families may experience significant psychosocial issues associated with biological sex uncertainty, possibly confounded by social media and public ‘gender reveal’ events [8,9,10 ▪ ,11,12].…”