[Holt-Oram syndrome: genetic counseling and diagnosis with prenatal ultrasonography].

[holt-oram syndrome]

Authors report the cases of the autosomal dominant Holt-Oram syndrome encountered during genetic counseling in the authors ' institution between 1976 and 2005 . A male patient with Holt-Oram syndrome considered the 50 % risk of transmission of the disease too high , thus he decided against fathering children . Prenatal fetal ultrasonography and echocardiography were performed in two pregnant women affected with Holt-Oram syndrome . In one case the possibility of the syndrome was excluded , in the other Holt-Oram syndrome was diagnosed . In two further cases Holt-Oram syndrome was prenatally diagnosed on the basis of ultrasonography in two midtrimester fetuses from unaffected parents . In one case the cardiac and skeletal malformations proved to be so serious that the couple requested termination of the pregnancy . The pathologic examination of the fetus confirmed the prenatal diagnosis .