Original Article
Phenotype analysis of 11 fetuses with 22q11.2 microduplication diagnosed prenatally
Zhai Hongbo, Zhu Huiqing, Huai Lei, Zhan Xin, Lu Jianyang, Lu Caijuan, Pan Jingjing, Wu Yafeng
Published 2022-12-04
Cite as Chin J Gen Pract, 2022, 21(12): 1164-1168. DOI: 10.3760/cma.j.cn114798-20220331-00249
Abstract
ObjectiveTo analyze the clinical phynotypes of fetuses with 22q11.2 microduplications.
MethodEleven 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.
ResultsThere 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.
ConclusionThe 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.
Key words:
Gene rearragment; 22q11.2 Chromosomal microduplication; Chromosomal microarray analysis; Genetic counseling
Contributor Information
Zhai Hongbo
Prenatal Diagnosis Center, Affiliated Hangzhou First People′s Hospital, Zhejiang University School of Medicine,Hangzhou 310003, China
Zhu Huiqing
Prenatal Diagnosis Center, Affiliated Hangzhou First People′s Hospital, Zhejiang University School of Medicine,Hangzhou 310003, China
Huai Lei
Prenatal Diagnosis Center, Affiliated Hangzhou First People′s Hospital, Zhejiang University School of Medicine,Hangzhou 310003, China
Zhan Xin
Prenatal Diagnosis Center, Affiliated Hangzhou First People′s Hospital, Zhejiang University School of Medicine,Hangzhou 310003, China
Lu Jianyang
Prenatal Diagnosis Center, Affiliated Hangzhou First People′s Hospital, Zhejiang University School of Medicine,Hangzhou 310003, China
Lu Caijuan
Prenatal Diagnosis Center, Affiliated Hangzhou First People′s Hospital, Zhejiang University School of Medicine,Hangzhou 310003, China
Pan Jingjing
Technical of Support Center of Zhejiang Biosan Biotechnology Co. Ltd., Hangzhou 310012, China
Wu Yafeng
Prenatal Diagnosis Center, Affiliated Hangzhou First People′s Hospital, Zhejiang University School of Medicine,Hangzhou 310003, China
