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 of 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 a 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 malforamtions 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.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D000650:Amnion / Q000000981:diagnostic imaging; D005260:Female; D005333:Fetus / Q000000981:diagnostic imaging; D005817:Genetic Counseling; D006548:Hernia, Diaphragmatic / Q000175:diagnosis / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D012737:Sex Factors; D014463:Ultrasonography