Prenatal detection and evaluation of differences of sex development

Esther L. Finney, Courtney Finlayson, Ilina Rosoklija, Elizabeth A. Leeth, Diane Chen, Elizabeth B. Yerkes, Earl Y. Cheng, Emilie K. Johnson*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Introduction: Differences/disorders of sex development (DSD) can be detected at different ages, including prenatally. The recent implementation of prenatal genetic testing (including cell-free DNA) may affect the frequency and impact of prenatal diagnosis of DSD. Our aims were to (1) describe prenatal detection and evaluation of differences of sex development presenting to a multidisciplinary DSD clinic and (2) explore possible parental distress accompanying this evaluation. Materials and methods: A retrospective chart review of mothers presenting prenatally, and patients presenting during infancy, to a multidisciplinary DSD clinic from 2013 to 2017 was conducted. Data extracted included demographics, final diagnoses, prenatal screening, prenatal evaluation, postnatal endocrine, genetic and radiologic testing, and clinician's notes on parent/patient distress. Results: Sixty-seven patients were identified; ten (15%) had prenatal detection of a suspected DSD. Of those, 4/10 were detected prenatally in the last study year alone. Within the prenatal group, 6/10 had cell-free DNA results discordant with ultrasound, 2/10 were detected by atypical genitalia on ultrasound, and 2/10 were detected through karyotyping performed for other indications. After birth, 3/10 patients were found to not have a DSD. Final diagnoses for the full study cohort are shown in the Summary Table, comparing prenatal versus postnatal presentation to our DSD clinic. Clinicians noted distress for most parents during the prenatal evaluation of a possible DSD, including one mother who reported suicidal thoughts. Discussion and conclusions: Prenatal suspicion of DSD can occur through discordant prenatal testing and has been observed at our clinic in recent years, in line with other recent studies. Contributing factors to these prenatal presentations could be increased referrals to the clinic, and increased use of non-invasive prenatal testing, which can lead to inaccurate or discordant sex identification. The prenatal suspicion of a potential DSD can be associated with parental distress, underscoring the need for adequate counseling for tests that determine fetal sex, including cell-free DNA.

Original languageEnglish (US)
Pages (from-to)89-96
Number of pages8
JournalJournal of Pediatric Urology
Issue number1
StatePublished - Feb 2020


  • Cell-free nucleic acids
  • Disorders of sex development
  • Genetic counseling
  • Prenatal diagnosis
  • Sex determination analysis

ASJC Scopus subject areas

  • Urology
  • Pediatrics, Perinatology, and Child Health


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