Prenatal Detection and Evaluation of Differences of Sex Development: A Qualitative Interview Study of Parental Perspectives and Unmet Needs
J Whitehead, MD1, Josephine Hirsch, BA1, Ilina Rosoklija, MPH1, Allison G. Weisman, MS, CGC1, Jeffrey Dungan, MD2, Courtney Finlayson, MD1, Diane Chen, PhD1, Emilie K. Johnson, MD, MPH1.
1Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA, 2Northwestern Memorial Hospital, Chicago, IL, USA.
BACKGROUND: Differences of sex development (DSD) are a diverse group of rare and complex conditions which require multidisciplinary collaboration for optimal management. Prenatal diagnoses of DSD are increasing in part due to the availability of cell-free DNA testing (cfDNA). Prenatal diagnoses of non-DSD medical conditions can be stressful for families, but little is known about the unique experiences of parents whose children were prenatally diagnosed with a potential DSD. The current study aims to explore the first-hand experiences of those parents.METHODS: Eligible parents were identified through chart review of patients and families who received consultation pre- or postnatally in the multidisciplinary DSD clinic at a large, urban academic pediatric center. Medical history and demographic data were collected from the medical record and self-report. Parents completed individual semi-structured interviews covering the following topics: (1) initial reaction to and disclosure of the potential diagnosis, (2) questions/concerns about the diagnosis, (3) decision-making about prenatal testing, (4) information sought and support utilized throughout the prenatal period, and (5) advice for future families and clinicians faced with similar situations. Interviews were audio-recorded, transcribed and coded for thematic analysis using an inductive and deductive approach. RESULTS: Seventeen interviews were completed with parents of 13 children (13 mothers; 4 fathers; Diagnoses: 6 children with Klinefelter syndrome (KS), 2 with a heterozygous NR5A1 pathogenic variant, and 1 each with Complete Androgen Insensitivity Syndrome, Turner syndrome with Y chromosome material (TS+Y), complete gonadal dysgenesis, a heterozygous WT1 pathogenic variant, and an SRY translocation). Four children had discordance between sex predicted by cfDNA versus prenatal ultrasound, and 2 had non-binary appearing (atypical or ambiguous) external genitalia on prenatal ultrasound. Of these 6, 50% (3/6) were not offered additional prenatal testing or counseling based on the discordance or ultrasound findings. Through analysis of themes, a conceptual framework of clinical needs was developed as shown in Figure 1. Parents identified needs for improvements in clinician education, pre- and post-test counseling, patient education materials, and streamlining of referrals. The majority of parents described tension between obtaining support through disclosure of their child’s diagnosis and preserving their child’s autonomy and privacy, with 41% ultimately limiting disclosure—highlighting the need for professional mental health support for parents (Figure 2). CONCLUSIONS: This is the first study to gather qualitative data from parents of children with a variety of DSD diagnoses suspected prenatally, an increasingly common scenario. Through their wide range of experiences, we identified multiple targets for intervention, with the overall goal of improving care for patients with DSD across the lifespan.
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