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

Autor: Benko, Z., Hajdú, J., Györkös, B., Tankó, M.L., Hajdu, K., Krisán, Á.
Předmět:
Zdroj: Ultrasound in Obstetrics & Gynecology; Sep2024 Supplement 1, Vol. 64, p180-181, 2p
Abstrakt: This article discusses a rare case of a woman diagnosed with Williams-Beuren syndrome during her pregnancy. The woman had a routine second trimester scan and was found to have various cardiac abnormalities in the fetus, which led to genetic testing. The results showed a deletion in the 7q11.23 region, confirming the diagnosis of Williams-Beuren syndrome. Despite the challenges associated with the syndrome, the parents decided to continue the pregnancy and the fetus is currently being closely monitored. The goal is to prolong the pregnancy to increase the chances of successful heart surgery after delivery. [Extracted from the article]
Databáze: Complementary Index