Prenatal diagnosis and genetic analysis of 17 fetuses with skeletal dysplasia.
10.3760/cma.j.cn511374-20191216-00639
- Author:
Jianyang LU
1
;
Lei HUAI
;
Caijuan LU
;
Yafeng WU
;
Huiqing ZHU
;
Xin ZHAN
;
Hongbo ZHAI
Author Information
1. Department of Obstetrics, Hangzhou First People's Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou, Zhejiang 310002, China. zhaihb@126.com.
- Publication Type:Journal Article
- MeSH:
Bone Diseases, Developmental/genetics*;
Female;
Fetus/diagnostic imaging*;
Genetic Testing;
Humans;
Karyotyping;
Pregnancy;
Prenatal Diagnosis;
Receptor, Fibroblast Growth Factor, Type 3/genetics*;
Ultrasonography, Prenatal
- From:
Chinese Journal of Medical Genetics
2020;37(11):1217-1221
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore strategies of prenatal genetic testing for fetuses featuring abnormal skeletal development.
METHODS:Clinical data of 17 fetuses with skeletal dysplasia was collected. The results of genetic testing and outcome of pregnancy were analyzed.
RESULTS:For 12 fetuses, the femur-to-foot length ratio was less than 0.9. Thirteen fetuses had a positive finding by genetic testing. One fetus was diagnosed with chromosomal aneuploidy, three were diagnosed with microdeletion/microduplications, and nine were diagnosed with hereditary bone diseases due to pathological variants of FGFR3, COL1A2, GPX4 or ALPL genes.
CONCLUSION:For fetuses with skeletal dysplasia characterized by short femur, in addition to chromosomal karyotyping and microarray analysis, sequencing of FGFR3 and other bone disease-related genes can improve the diagnostic rate.
