Prenatal ultrasound diagnosis of the Holt-Oram syndrome

Prenat Diagn. 1988 Mar;8(3):175-81. doi: 10.1002/pd.1970080303.

Abstract

The Holt-Oram syndrome is an autosomal dominant disorder consisting of a congenital heart defect in combination with characteristic upper limb abnormalities. This report presents the ultrasonographic follow-up of two fetuses at risk for the Holt-Oram syndrome. In the first fetus, the existence of Holt-Oram syndrome was suspected at 22 weeks of gestation; a ventricular septal defect, an atrial septal defect, and a minor skeletal defect were found. In the second fetus, no structural abnormalities were discovered until the 30th week, when a small atrial septal defect was detected. In both pregnancies, it was possible to exclude early in gestation the more severe forms of the Holt-Oram syndrome.

Publication types

  • Case Reports

MeSH terms

  • Bone and Bones / abnormalities
  • Female
  • Fetal Death
  • Gestational Age
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics
  • Humans
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis*
  • Ultrasonography*