Work

Comprehensive prenatal and postnatal analysis of 22q11.2 microdeletion syndrome: a single-center study

Year: 2025

Type: article

Abstract: OBJECTIVE: By analyzing the clinical information and prognosis of 22q11.2 microdeletion syndrome, a more comprehensive disease information was obtained. METHODS: Retrospective analysis of cases prenatally diagnosed with 22q11.2 microdeletion syndrome at the Centre. Collecting and analysing clinical data on cases, including demographics of pregnant women, imaging, prenatal diagnosis, pregnancy outcomes and live birth follow-up. RESULTS: A total of 52 cases were included in the study, including 39 cases (75%) in the first-second trimester and 13 cases (25%) in the third trimester. There were 37 cases of congenital heart disease (71.2%). Forty-eight cases (92.3%) chose termination of pregnancy (TOP), and four cases chose to retain the fetus. The surgical outcome of live births was good, but there were delays in motor, language or cognitive retardation. CONCLUSION: The study demonstrates the significant importance of prenatal screening, diagnosis and follow-up in this disease. The relevant prognosis can provide pregnant women with pregnancy options, formulate pregnancy management and postpartum follow-up plans, which enable early intervention to improve the prognosis.

Source: BMC Pregnancy and Childbirth

DOI: 10.1186/s12884-025-08081-2