Prenatal diagnosis for 30 women carrying a FMR1 mutation.
10.3760/cma.j.issn.1003-9406.2019.09.003
- VernacularTitle:30例脆性X携带者的产前诊断
- Author:
Wen HUANG
1
,
2
;
Jin XUE
;
Huaixing KANG
;
Xinxin GUAN
;
Yanling TENG
;
Lingqian WU
;
Ranhui DUAN
Author Information
1. Center for Medical Genetics, School of Life Science, Central South University, Changsha, Hunan 410078, China. duanranhui@sklmg.edu.cn
2. wulingqian@sklmg.edu.cn.
- Publication Type:Journal Article
- MeSH:
Female;
Fragile X Mental Retardation Protein;
genetics;
Fragile X Syndrome;
diagnosis;
Heterozygote;
Humans;
Mutation;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2019;36(9):866-869
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To determine the CGG repeat number and methylation status of FMR1 gene for fetuses whose mothers have carried a FMR1 mutation.
METHODS:For 30 pregnant women, the fetal CGG repeat number was determined with a GC-rich PCR system by using chorionic villus, amniotic fluid or umbilical blood samples. The methylation status of the FMR1 gene was confirmed with Southern blotting.
RESULTS:In total 30 prenatal diagnoses were performed for 29 carriers of FMR1 gene mutations and 1 with FMR1 gene deletion mosaicism. Three fetuses were found to carry premutations, 9 were with full mutations and 1 with mosaicism of premutation and full mutations. Eighteen fetuses were normal.
CONCLUSION:Considering the genetic complexity of Fragile X syndrome (FXS), single method may not suffice accurate determination of their genetic status. The pitfalls and technical limitations of protocols requires adoption of personalized strategy for its prenatal diagnosis.
