Original Article
Prenatal diagnosis of five fetuses with 7q11.23 microdeletion or microduplication
Liang Bin, Wang Yan, Chen Lingji, Huang Hailong, Chen Xuemei, He Deqin, Xu Liangpu
Published 2021-11-10
Cite as Chin J Med Genet, 2021, 38(11): 1064-1067. DOI: 10.3760/cma.j.cn511374-20200911-00661
Abstract
ObjectiveTo investigate the ultrasonographic findings and genetic testing methods for fetuses carrying copy number variants (CNVs)of 7q11.23 region.
MethodsPrenatal 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.
ResultsFive 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.
ConclusionFetuses 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.
Key words:
Williams-Beuren syndrome; 7q11.23 microduplication; Single nucleotide polymorphism array; Prenatal diagnosis
Contributor Information
Liang Bin
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
Wang Yan
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
Chen Lingji
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
Huang Hailong
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
Chen Xuemei
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
He Deqin
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
Xu Liangpu
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
