Application of Karyomapping for the prenatal diagnosis of five families affected with facioscapulohumerial muscular dystrophy type 1.
10.3760/cma.j.issn.1003-9406.2019.03.003
- VernacularTitle:Karyomap基因芯片在面肩肱型肌营养不良症1型产前诊断的应用
- Author:
Yuting ZHENG
1
;
Lingrong KONG
;
Hui XU
;
Zhouxian BAI
;
Yongjie LU
;
Xiangdong KONG
Author Information
1. Center of Genetics and Prenatal diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450001, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Female;
Genetic Linkage;
Humans;
Muscular Dystrophies;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2019;36(3):203-206
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of Karyomapping for the prenatal diagnosis of facioscapulohumerial muscular dystrophy type 1 (FSHD1).
METHODS:Peripheral blood and chorionic villi samples were collected from five families affected with FSHD1. Linkage-based diagnosis was carried out by using the Karyomapping method. Diagnosis for two fetal samples was carried out with the next-generation optical mapping system.
RESULTS:The results of Karyomapping showed that three fetuses inherited the risky 4q35 region of the proband and two fetuses did not. The fetuses of families 1 and 2 received further diagnosis by the next-generation optical mapping system, and the results were consistent with those of Karyomapping.
CONCLUSION:Karyomapping has enabled prenatal diagnosis for the five families affected with FSHD1. The method was faster and simpler compared with conventional strategies, though its feasibility still needs further validation. Since there were no SNP loci designed on the Karyomap chip for the DUX4 gene and its 3' flanking regions, misjudgment due to chromosomal recombination could not be completely eliminated. The accuracy of this method still needs further validation.
