BÁO CÁO CA BỆNH: CHẨN ĐOÁN TRƯỚC SINH HỘI CHỨNG CRI-DU-CHAT Ở THAI HẾT ỐI TẠI BỆNH VIỆN PHỤ SẢN HÀ NỘI

Abstract

Cri-du-chat syndrome is a rare deletion syndrome, with an incidence of about 1 in 45,000 live births, due to partial deletions of the short arm of chromosome 5. Most of these deletions are de novo. Typical symptoms of the disease include a characteristic high-pitched cry that sounds like that of a cat, hypotonia, microcephaly, delayed mental and motor development when growing up. Until now, there has been no reported cases of Cri-du-chat syndrome with kidney abnormalities or anhydramnios worldwide. We report a case of fetus with Criduchat syndrome with anhydramnios, no observable bladder, and polycystic kidney disease diagnosed for the first time in Vietnam and the world. Oligohydramnios or anhydramnios leads to difficulty in diagnosing fetal genetic abnormalities. Thanks to the application of amniotic transfusion technique into the uterine cavity and taking amniotic fluid samples for genetic testing, the morphological and genetic abnormalities of the fetus have been clarified.