What chromosomal anomalies is congenital diaphragmatic hernia associated with?

Congenital diaphragmatic hernia (CDH) is indeed associated with various chromosomal anomalies, particularly those involving trisomies. Among these, trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome) have been well-documented as conditions that can co-occur with CDH.

Trisomy 21 is the most common chromosomal anomaly associated with CDH, and studies indicate that children with CDH may have a higher likelihood of this condition, as well as the more severe trisomies like T18 and T13. The underlying mechanisms for these associations often relate to disruptions in normal embryonic development, particularly affecting the structures that form the diaphragm.

Recognizing the link between CDH and these specific chromosomal abnormalities is crucial for both diagnosis and management. It informs genetic counseling, helps in risk assessment for other anomalies, and guides perinatal care strategies. Therefore, identifying congenital diaphragmatic hernia in a newborn also necessitates a workup for these chromosomal conditions.