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 [2015]

Hong Kong

• Hong Kong Medical Journal
  • Fragile X syndrome: genetic and clinical profile in the Hong Kong Chinese population [2025]

India

• Indian Academy of Pediatrics
  • Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India [2019]

Taiwan

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

Thailand

• International Journal of Molecular Sciences
  • A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand [2025]

United Kingdom

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

• UK National Screening Committee
  • Fragile X

United States

• American College of Medical Genetics and Genomics
  • Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) [2021]

• National Institute of Child Health and Human Development
  • How do healthcare providers diagnose Fragile X syndrome?

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