Obstetrics, gynecology, andrology, sexual and reproductive health

Prenatal screening and diagnosis

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Fragile X syndrome: prenatal screening and diagnosis

 

China

• Molecular Genetics & Genomic Medicine
  • Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy [2020]

Europe

• European Molecular Genetics Quality Network
  • EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders [2014]

Taiwan

• Scientific Reports
  • Fragile X syndrome carrier screening in pregnant women in Chinese Han population [2019]

United Kingdom

• Genes
  • Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations [2016]

{Related topics}

• Guidelines
  • Prenatal screening and diagnosis