Prenatal diagnosis and family analysis of 22q11.2 microdeletion syndrome.
10.3760/cma.j.cn511374-20200402-00234
- VernacularTitle:22q11.2微缺失综合征胎儿的产前诊断及家系分析
- Author:
Duo CHEN
1
,
2
;
Yaqin HOU
;
Panlai SHI
;
Guijun QIN
;
Xiangdong KONG
Author Information
1. Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China. kongxd@
2. net.
- Publication Type:Journal Article
- MeSH:
DNA Copy Number Variations;
Female;
Fetus;
Humans;
Microarray Analysis;
Pregnancy;
Pregnancy Outcome;
Prenatal Diagnosis;
Ultrasonography, Prenatal
- From:
Chinese Journal of Medical Genetics
2021;38(7):659-662
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the prenatal diagnosis, parental verification and pregnancy outcome of 6 fetuses with 22q11.2 microdeletion syndrome.
METHODS:Copy number variation sequencing (CNV-seq)and chromosomal microarray analysis (CMA) were carried out for the fetuses.
RESULTS:The fetuses were found to harbor 2.54-3.2 Mb microdeletions of the 22q11.2 region, among which one was maternally inherited and one was paternally inherited. Two parents opted to continue with the pregnancy, and 4 chose induced labor. One fetus was found to have tetralogy of Fallot, while two carrier parents and one fetus appeared to have normal phenotype.
CONCLUSION:22q11.2 microdeletions identified upon prenatal diagnosis should be treated carefully, with ultrasonic scan and parental verification taken into account.
