Prenatal screening and diagnosis

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Cystic fibrosis: prenatal screening and diagnosis

Denmark

• Prenatal Diagnosis
  • Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants [2023]

Europe

• European Journal of Human Genetics
  • The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus [2016]

• Journal of Cystic Fibrosis
  • Benchmarks for Cystic Fibrosis carrier screening: A European consensus document [2010]

France

• Archives de Pédiatrie
  • Preliminary proposals for the follow-up of infants born to mothers with cystic fibrosis treated with CFTR modulators during the first two years of life [2025]

• Genes
  • Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed? [2021]

International

• Genetics in Medicine
  • Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review [2020]

United Kingdom

• Prenatal Diagnosis
  • Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis [2015]

• UK National Screening Committee
  • Cystic fibrosis (pregnancy)

United States

• Cystic Fibrosis Foundation
  • Perspectives of people with cystic fibrosis considering parenthood surrounding preconception and prenatal genetic counseling and testing [2025]

• Journal of Cystic Fibrosis
  • Routine cell-free DNA prenatal screening identifies pregnancies at high risk for cystic fibrosis that may benefit from fetal therapy [2025]

{Related topics}

• Topic
  • Prenatal screening and diagnosis
  • Cystic fibrosis