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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Sep 10;36(9):866-869. doi: 10.3760/cma.j.issn.1003-9406.2019.09.003.

[Prenatal diagnosis for 30 women carrying a FMR1 mutation].

[Article in Chinese]

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Center for Medical Genetics, School of Life Science, Central South University, Changsha, Hunan 410078, China.;



To determine the CGG repeat number and methylation status of FMR1 gene for fetuses whose mothers have carried a FMR1 mutation.


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.


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.


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.

[Indexed for MEDLINE]

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