Related Experiment Video
Updated: Jan 13, 2026
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Comprehensive prenatal and postnatal analysis of 22q11.2 microdeletion syndrome: a single-center study
Tingsong Weng1, Caiyuan Chen2,3, Quanzhen Chen2
1Delivery Room, Department of Obstetrics and Gynecology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
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.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
09:30Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
