Congenital malformations - Edocr

CHAPTER 24 CONGENITAL DIAPHRAGMATIC HERNIA 157
GENETIC COUNSELING
The inheritance pattern for sporadic CDH is
poorly understood, but, the recurrence risk in
siblings is estimated to be up to 2%. 8,36 In cases
of CDH occurring as part of an autosomal recessive
syndrome (e.g., Fryns syndrome), the recurrence
risk could be as high as 25%. Familial CDH,
which is inherited as an autosomal dominant
condition has a 50% recurrence risk. 36 Prenatal
screening by early prenatal sonography should
be offered in subsequent pregnancies.
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