Impact of cell‐free DNA screening on parental knowledge of fetal sex and disorders of sex development

Abstract

Objective: Discrepancies between cfDNA and ultrasound predicted fetal sex occur, possibly indicating disorders/differences of sex development (DSDs). Among expectant/recent parents, this study assessed cfDNA knowledge/use, fetal sex determination attitudes/behaviors, general knowledge of DSD, and possible psychological impact of discrepancy between fetal sex on cfDNA and ultrasound. Method: Parents were surveyed about fetal sex determination methods, knowledge of cfDNA and DSD, distress related to possible cfDNA inaccuracy. Results: Of 916 respondents, 44% were aware of possible discrepancy between cfDNA and ultrasound, 22% were aware of DSD. 78% and 75% would be upset and worried, respectively, with results showing fetal sex discrepancy. Most (67%) revealed predicted fetal sex before delivery. 38% were offered cfDNA. Of those revealing fetal sex, 24% used cfDNA results, 71% ultrasound, and 7% both. cfDNA users were more frequently aware of possible discrepancy between cfDNA and ultrasound (76% vs 41%, P < .0001), but not of DSD (29% vs 23%, P = .29). Conclusion: Fetal sex determination is favored, and cfDNA is frequently used for predicting fetal chromosomal sex. Many parents are unaware of possible discrepancies between cfDNA and ultrasound, and potential for DSD. Most would be

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

“…We report insights that should guide modifications to current targeted changes in the pre-cfDNA test counseling to better prepare parents, 29 including dispelling the common misperception of cfDNA as a foolproof "gender test." 30 Several parents described difficulty navigating the healthcare system the fact that our sample was largely privately insured, older than the average age for parenthood in the United States, 31 and able to access care at a tertiary care center. Parents emphasized the benefits of receiving subspecialty and/or multidisciplinary consultation and recommended improved communication amongst local healthcare networks so families can receive timely referrals to teams with an appropriate level of expertise.…”

“…On a broad societal level, de‐stigmatization of DSD and increased awareness of these conditions could substantially reduce the initial shock of the diagnosis. De‐stigmatization could also be accomplished on an individual level with targeted changes in the pre‐cfDNA test counseling to better prepare parents, 29 including dispelling the common misperception of cfDNA as a foolproof “gender test.” 30 …”

“…Age in years at time of delivery, a median (range) 35 (23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42) Age in years at time of interview, median (range) 37 (24-43)…”

Navigation of Prenatal Care With Sex Discordance Between Cell-free DNA and Ultrasound Findings

“…Studies have shown that a suspected or confirmed diagnosis of DSD can have a significant psychological impact on the parents. 6,27 Mothers and families with suspected or confirmed diagnosis of DSD have been shown to have anxiety and depression related to the diagnosis, difficulties bonding with their infant, parental distress and, in rare cases, suicidal ideation. 27 As mentioned previously, psychologists/psychiatrists, therapist, and social workers should be involved to support and care for the mental wellbeing the mother and family from the time of diagnosis and during the postnatal period.…”

“…The accuracy of cfDNA for sex determination is high, with a detection rate of 95% and a specificity of 98%. 5,6 With the increased use of cfDNA in the general population and learned knowledge of genotypic sex, usually before anatomic fetal ultrasound, it is now possible to identify scenarios where the fetal genitalia on ultrasound is incongruent with predicted fetal genotypic sex. This situation is becoming more prevalent with more widespread use of cfDNA in the general population.…”