[Ultrasonographic phenotype and genetic analysis of fetuses with 17q12 microdeletion]
Meiying Cai1, Hailong Huang, Linjuan Su
1Maternity and Child Health Care Hospital of Fujian Province, the Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian 350001, China. xiliangpu@fjmu.edu.cn.
Objective:
To analyze the ultrasonographic phenotype and result of genetic testing in six fetuses carrying a 17q12 microdeletion.
Methods:
Chromosomal microarray analysis (CMA) was carried out for 6200 pregnant women undergoing prenatal diagnosis from December 2016 to May 2021.
Results:
CMA has identified 6 fetuses with a microdeletion in the 17q12 region, which spanned approximately 1.4 Mb and encompassed at least 13 OMIM genes. All fetuses have shown bilateral renal parenchymal echo enhancement. Four fetuses also had other ultrasonographic phenotypes. The parents of 4 fetuses had refused parental verification, whilst the remaining two fetuses were confirmed to be de novo in origin.
Conclusion:
The prenatal ultrasonographic phenotype of 17q12 microdeletion is mainly enhanced bilateral renal parenchymal echos. CMA can facilitate detection of the 17q12 microdeletion.
Related Concept Videos
01:17Karyotyping
01:17Ultrasonography
During an ultrasonography procedure, a handheld device called...