Prenatal diagnosis of five fetuses with 7q11.23 microdeletion or microduplication.
10.3760/cma.j.cn511374-20200911-00661
- VernacularTitle:五例7q11.23微缺失/微重复胎儿的产前诊断
- Author:
Bin LIANG
1
;
Yan WANG
;
Lingji CHEN
;
Hailong HUANG
;
Xuemei CHEN
;
Deqin HE
;
Liangpu XU
Author Information
1. Fujian Maternity and Child Health Hospital, The Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian 350001, China. xiliangpu@fjmu.edu.cn.
- Publication Type:Journal Article
- MeSH:
DNA Copy Number Variations;
Female;
Fetus;
Humans;
Karyotyping;
Pregnancy;
Prenatal Diagnosis;
Retrospective Studies
- From:
Chinese Journal of Medical Genetics
2021;38(11):1064-1067
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the ultrasonographic findings and genetic testing methods for fetuses carrying copy number variants (CNVs) of 7q11.23 region.
METHODS:Prenatal cases with 7q11.23 microdeletion/microduplication detected by single nucleotide polymorphism array (SNP array) from January 2016 to June 2020 were retrospectively analyzed, including fetal ultrasound, chromosomal karyotype, SNP array, pregnancy outcome and follow-up. Literature on 7q11.23 CNVs identified upon prenatal diagnosis was also reviewed.
RESULTS:Five fetuses were found with 7q11.23 CNVs, including 3 microdeletions and 2 microduplications. Of them, 4 had ultrasonographic anomalies. The karyotypes of all fetuses were normal. Of three 7q11.23 microdeletions, two were de novo, while the remaining one couple did not accept parental verification. Of two 7q11.23 microduplications, one was de novo and the another was inherited from a phenotypic normal father. Three 7q11.23 microdeletions and one de novo 7q11.23 microduplication were electively aborted. One fetus carrying paternally inherited 7q11.23 microduplication was delivered full term. Follow-up found the infant had a normal phenotype.
CONCLUSION:Fetuses with 7q11.23 microdeletions or microduplications showed phenotypic heterogeneity. SNP array can accurately detect 7q11.23 CNVs, thereby provide accurate information for prenatal diagnosis and genetic counseling.
