Prenatal skeletal dysplasias are among the most challenging conditions to diagnose and counsel prenatally due to variable phenotypic expression, evolving genotype-phenotype correlations, and limitations of prenatal imaging and molecular testing. While advances in genomic technologies have improved diagnostic capabilities, predicting clinical outcomes, including survival, severity, and long-term prognosis, often remains uncertain.

This webinar will review current approaches to the prenatal evaluation of suspected skeletal dysplasias and explore the challenges of prognostication in the context of uncertain or evolving information. Through clinical cases, participants will examine practical counseling strategies for communicating uncertainty, supporting informed decision-making, and providing patient-centered care for families navigating complex prenatal diagnoses of skeletal dysplasia.

Presented by: 

NSGC Skeletal Dysplasia SIG
1. Shannon Persick, MS, CGC

Learning Objectives:

1. Review the most common prenatal presentations of skeletal dysplasias.
2. Describe the major factors that contribute to prognostic uncertainty in prenatal skeletal dysplasia evaluation, including limitations of ultrasound examination, molecular testing, and genotype phenotype correlations.
3. Illustrate the spectrum of clinical outcomes associated with prenatal skeletal dysplasia diagnoses through real-life case examples.
4. Recognize common psychosocial challenges experienced by families navigating a new diagnosis of skeletal dysplasia in both the prenatal and neonatal periods.