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

Area of Science:

• Reproductive Medicine
• Genetics
• Pediatrics

Background:

• Differences of Sex Development (DSD) encompass a range of conditions affecting chromosomal, gonadal, and anatomical development.
• Prenatal diagnosis of DSD is often challenging, necessitating comprehensive guidance for families and clinicians.
• Effective management requires a continuum of care from prenatal through postnatal stages.

Purpose of the Study:

• To provide diagnostic guidance for Differences of Sex Development (DSD) from the prenatal to postnatal period.
• To summarize management strategies for common DSD diagnoses, emphasizing psychosocial support.
• To highlight the role of noninvasive prenatal screening (NIPS) in identifying potential DSD cases.

Main Methods:

• Review of current literature on DSD diagnosis and management.
• Analysis of the utility of noninvasive prenatal screening (NIPS) in early DSD detection.
• Synthesis of recommendations for prenatal counseling, neonatal management, and postnatal workup.

Main Results:

• Noninvasive prenatal screening (NIPS), primarily for aneuploidies, can detect fetal sex and flag potential DSD when discordant with ultrasound findings.
• Increased use of NIPS may lead to a rise in prenatal referrals for DSD evaluation.
• The review outlines management for common DSDs, focusing on rare but impactful diagnoses.

Conclusions:

• Prenatal identification of DSD via NIPS warrants a thorough workup and specialized care.
• A coordinated approach involving prenatal counseling, neonatal management, and postnatal evaluation is crucial.
• Emphasis on psychosocial support and shared decision-making is vital for families navigating DSD diagnoses.