Genetic Diagnostic Strategies and Counseling for Families Affected by Congenital Diaphragmatic Hernia

This review provides clinical guidelines for genetic evaluation of congenital diaphragmatic hernia (CDH), a severe birth defect affecting up to 60% of patients with associated malformations. Chromosome microarray yields 10% diagnostic rate prenatally, with trio exome/genome sequencing adding 10-20% more diagnoses. All CDH families should receive genetic counseling and family-based testing regardless of additional anomalies.