Familial congenital diaphragmatic hernia: Prenatal diagnostic approach and analysis of twelve families

Congenital diaphragmatic hernia is generally recognized as a sporadic malformation with little or no risk recurrence. A family with three affected individuals in two generations is presented. In addition, new prenatal diagnostic techniques including ultrasonography and amniography are discussed. A comparison of associated physical characteristics in isolated versus twelve familial cases of diaphragmatic hernia is presented. In the familial group, there was higher incidence of affected males (M:F ratio= 2.1 versus 0.67), a higher incidence of bilateral defects (20% versus 3%) and a lower incidence of additional life-threatening malformations (3.6% versus 47%). Analysis of available pedigree data favors multifactorial inheritance with a high male: female sex ratio as the most probable mode of transmission.