Phenotype analysis of 11 fetuses with 22q11.2 microduplication diagnosed prenatally
10.3760/cma.j.cn114798-20220331-00249
- VernacularTitle:产前诊断22q11.2区域微重复11例表型分析
- Author:
Hongbo ZHAI
1
;
Huiqing ZHU
;
Lei HUAI
;
Xin ZHAN
;
Jianyang LU
;
Caijuan LU
;
Jingjing PAN
;
Yafeng WU
Author Information
1. 浙江大学医学院附属杭州市第一人民医院产前诊断中心，杭州 310003
- Keywords:
Gene rearragment;
22q11.2 Chromosomal microduplication;
Chromosomal microarray analysis;
Genetic counseling
- From:
Chinese Journal of General Practitioners
2022;21(12):1164-1168
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical phynotypes of fetuses with 22q11.2 microduplications.Method:Eleven fetuses were diagnosed with 22q11.2 microduplications among 2 969 cases who underwent prenatal chromosomal microarray analysis from January 2016 to February 2020. The phenotypes, indications for invasive prenatal diagnosis, genetic results, pregnancy outcomes and postnatal clinical presentation were analyzed.Results:There were 6 cases diagnosed with classic 3.0 Mb microduplication (DiGeorge and velocardiofacial syndromes, DGS/VCFS) in the 22q11.2, 1 case with 1.5 Mb proximal microduplication and 4 cases with distal small segment microduplication (E-H). Out of 11 fetuses with 22q11.2 microduplications,7 cases were inherited, 2 cases was de novo and data were not available for 2 cases. Vicular septal defect and anencephalu were diagnosed by ultrasonography in 2 cases,fetal growth restriction was diagnosed in 2 cases,no any abnormalities were found in remaining 7 cases. Seven cases(3 cases of classic 3.0 Mb microduplication, 1 case of proximal microduplication and 3 cases of distal small segment microduplication) were delivered at full-term;and pregnancy was terminated in 4 cases. Seven infants were followed up after birth, 4 infants were normal, 3 showed abnormal phenotypes.Conclusion:The clinical phenotypes after birth of fetuses with 22q11.2 microduplication are diverse. Prenatal genetic counseling is necessary,so that pregnant women and their families can fully understand the possible clinical phenotypes and make informed choices.
