EP07.68: Rare case of continued pregnancy with early diagnosed Williams‐Beuren syndrome

A 33-year-old woman gravida 2, para 1, having one healthy child. First trimester scan normal. EDD:20.05.2024. Combined test low risk for trisomies. She presented at our clinic at 20. weeks for routine second trimester scan. Findings: Normal growth and amniotic fluid, left sided plexus choroideus cyst, 2,7mm subaortic VSD, narrow Aorta, ARSA. Genetic counselling and GAC taken. FISH for 22.q11 and karyotyping came back negative. Although the most common suggestion due to the cardiac findings was 22.q11 deletion, SNP array showed 7q11.23 deletion that codes Williams-Beuren syndrome. After extensive counselling with pediatric surgeons and geneticists, the parents opted for continuing the pregnancy. At the moment she is 31 weeks pregnant and the fetus has fetal growth restriction with normal Dopplers and amniotic fluid therefore closely monitored. Our aim is to prolong the pregnancy as much as possible, to become a good candidate for heart surgery after delivery, as prematurity and small birthweight deteriorates the prognosis. Long term follow-up is planned in our University.