# Prenatal diagnosis of Holt-Oram syndrome

## TL;DR

This paper describes the prenatal diagnosis of Holt-Oram syndrome in a pregnant woman through ultrasound findings.

## Contribution

The case highlights the use of ultrasound for prenatal detection of Holt-Oram syndrome without amniocentesis.

## Key findings

- Ultrasound detected bilateral aplasia radii, curved ulna, and twisted hands in the fetus.
- A significant enlargement of the right atrium was observed without tricuspid regurgitation.
- Postnatal evaluation confirmed the prenatal diagnosis of Holt-Oram syndrome.

## Abstract

To detect common congenital disorders in Holt-Oram syndrome.

We present a case of a 32 years old primigravida pregnant woman affected by Holt-Oram syndrome referred to our institution for second trimester routine anatomy scan. The ultrasound reported a bilateral aplasia radii, slightly curved ulna and bilateral twisted hand with four digital rays. A significant enlargement of the right atrium without tricuspid regurgitation was also detected. The patient refused the amniocentesis and the postnatal evaluation confirmed the diagnosis of Holt-Oram syndrome.

Holt-Oram syndrome is an autosomal dominant genetic condition. It is characterized by abnormalities in the bones of the upper limb and congenital heart malformation. The mutation can be inherited, but most cases result from a new mutation in patients without family history of the disorder.