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 fetopathological examination confirmed the prenatal diagnosis.
|Translated title of the contribution||Holt-Oram syndrome: Genetic counseling and prenatal ultrasonographic diagnosis|
|Number of pages||4|
|Publication status||Published - Nov 18 2007|
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