Genetic Diagnostic Strategies and Counseling for Families Affected by Congenital Diaphragmatic Hernia
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In brief
In brief
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.
Written by the GCMD Library team from the article.
Congenital diaphragmatic hernia (CDH) is a relatively common and severe birth defect with variable clinical outcome and associated malformations in up to 60% of patients. Mortality and morbidity remain high despite advances in pre-, intra-, and postnatal management. We review the current literature and give an overview about the genetics of CDH to provide guidelines for clinicians with respect to genetic diagnostics and counseling for families. Until recently, the common practice was (molecular) karyotyping or chromosome microarray if the CDH diagnosis is made prenatally with a 10% diagnostic yield. Undiagnosed patients can be reflexed to trio exome/genome sequencing with an additional diagnostic yield of 10 to 20%. Even with a genetic diagnosis, there can be a range of clinical outcomes. All families with a child with CDH with or without additional malformations should be offered genetic counseling and testing in a family-based trio approach.