Holt–Oram Syndrome: The Importance of Prenatal Detection

JOURNAL TITLE: Donald School Journal of Ultrasound in Obstetrics and Gynecology

1. Emir Mahmutbegovic
Publishing Year
Author Affiliations
    1. Department of Gynecology, School of Medicine, Sarajevo School of Science and Technology, Sarajevo, Bosnia and Herzegovina; Health Care Centre, Sarajevo, Bosnia and Herzegovina
  • Article keywords
    Congenital heart defect, Holt–Oram syndrome, Prenatal diagnosis, Screening


    Aim: The aim of the paper is to present prenatal diagnosis of Holt–Oram syndrome (HOS), pregnancy management, out-of-hospital birth in the 33rd week of gestation, and postnatal treatment. Case description: The following fetal malformations were detected by ultrasound on the 30th week of gestation: bilateral upper lip and palate cleft, bilateral upper limb mesomelia with bilateral ulnar deviation of the wrist with absent thumb, ventricular septal defect, and distension of the colon. The amniotic fluid index was 23. Holt–Oram syndrome was suspected. During the ultrasound examination, a Kurjak antenatal neurodevelopmental test (KANET) was scored to be 8. At home, at the 33rd week of pregnancy, a premature rupture of the amniotic membranes occurred, followed by uterine contractions, and the patient was urgently transported to the hospital. During the transportation attended by the midwife, premature baby was delivered in the car not far from the hospital, where the baby was admitted at the age of 7 minutes. The baby was admitted to the neonatal intensive care unit with all prenatally detected congenital malformations present during the first check-up. The baby was in the life-threatening condition and died at the age of 48 hours. Conclusion: Holt–Oram syndrome should be prenatally detected in order to enable better prenatal counseling with the possibility of the interruption of pregnancy, which may be the option in severe cases, or if parents opt for continuation of pregnancy to discuss with the all possible options of pregnancy and postnatal outcome.

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