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Review
. 2024 Oct 1;36(5):547-553.
doi: 10.1097/MOP.0000000000001388. Epub 2024 Jul 31.

Prenatal and postnatal evaluation of differences of sex development: a user's guide for clinicians and families

Erica M Weidler  1   2 , Brielle Ochoa  1 , Kathleen van Leeuwen  1   2
Affiliations
Review

Prenatal and postnatal evaluation of differences of sex development: a user's guide for clinicians and families

Erica M Weidler et al. Curr Opin Pediatr. .

Abstract

Purpose of review: Differences of sex development (DSD) are a group of chromosomal, gonadal, and anatomic conditions that are not often diagnosed during pregnancy. Families and clinicians need diagnostic guidance that supports all aspects of the care from the prenatal to postnatal period.

Recent findings: Noninvasive prenatal screening (NIPS) is obtained by sampling cell-free fetal DNA in the mother's bloodstream in the first trimester. While its primary purpose is to screen for genetic aneuploidies, it is also used to determine the sex of the fetus. When screening ultrasound shows genital anatomy that is discordant with the sex determination by NIPS, a DSD workup is warranted. The use of this relatively new screening tool may result in a higher number of prenatal referrals than in the past.

Summary: This review summarizes suggested prenatal counseling, neonatal management, and postnatal workup of the most common DSD diagnoses. All of these diagnoses are rare, but the common features that families face are addressed with particular emphasis on psychosocial support and a measured shared decision-making approach.

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Conflict of interest statement

Conflicts of Interest: EM Weidler is the Executive Director of Accord Alliance.

Figures

Figure 1.
Figure 1.
Stepwise approach to counseling and evaluation of prenatal and postnatal findings of DSD
Figure 2.
Figure 2.
Genes and the pathways involved in embryonic development.
Figure 3.
Figure 3.
Prenatal and postnatal findings for the most common DSD diagnoses *Findings are for typical/common appearance of these conditions. Variations from mild to severe exist for all structures. **Karotype for sex chromosomes may take 2 to 3 days. DSD panel can be sent as an outpatient and results are not as rapid.
See this image and copyright information in PMC

References

    1. Jayashankar SS, Nasaruddin ML, Hassan MF, et al. Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions. Diagnostics (Basel). 2023;13(15):2570. - PMC - PubMed

    2. This article aims to review the reliability of NIPT while discussing the current challenges prevalent among different communities worldwide while using this relatively new tool.

    1. LeFevre NM, Sundermeyer RL. Fetal Aneuploidy: Screening and Diagnostic Testing. Am Fam Physician. 2020;101(8):481–8. - PubMed
    1. Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 2006;118(2):e488–500. - PubMed
    1. Allen NG, Krishna KB, Lee PA. Differences of Sex Development: What Neonatologists Need to Know. Clin Perinatol. 2022;49(1):207–18. - PubMed

    2. The neonatologist is often the first health care provider to interact with parents of newborns with DSD and must be familiar with the approach to patients with DSD. The initial workup in the neonatal intensive care unit is reveiwed.

    1. University Health Network and the Hospital for Sick Children. How Sex Development Works. 2015. [Available from: https://pie.med.utoronto.ca/htbw/module.html?module=sex-development.