Ultrasound 2-D and 3-D diagnosis of Rubinstein-Taybi syndrome in a 21-week-old fetus

Rubinstein-Taybi syndrome is a rare genetic multisystem disorder with an estimated prevalence between 1 per 100,000-125,000 live births. Diagnosis is usually clinical and subsequent to birth. In fact, the rarity of the syndrome and the presence of aspecific morphologic anomalies make prenatal diagnosis challenging. The aim of our work is to analyze ultrasonographic findings, detectable with a combination of 2D and 3D techniques, which may increase the sensitivity of in utero diagnosis of this condition. We report a case of a sonographic prenatal diagnosis of broad and angulated thumbs and halluces and of an abnormal ductus venosus at 21 weeks of gestational age. These findings allowed us to suspect Rubinstein-Taybi syndrome. An accurate ultrasonographic examination may allow a prenatal diagnosis of those syndromes which are usually diagnosed after birth.

Automated summary

Rubinstein-Taybi syndrome is a rare genetic disorder with challenging prenatal diagnosis. Ultrasonographic examination can increase the sensitivity of prenatal diagnosis for this condition.