Prenatal screening and diagnosis

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Down syndrome: prenatal screening and diagnosis

Australia

• Australian Prescriber
  • Non-invasive prenatal testing for Down syndrome [2014]

Australia, New Zealand

• Royal College of Pathologists of Australasia
  • Down syndrome prenatal risk test

Canada

• BMC Pregnancy and Childbirth
  • Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies [2020]

• Implementation Science
  • Theory-based approach to developing an implementation plan to support the adoption of a patient decision aid for Down syndrome prenatal screening [2021]

• Perinatal Services BC
  • Management of Pregnancies Diagnosed with Down Syndrome [2018]

• PLoS ONE
  • Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis [2019]

China

• BMJ Open
  • Introducing the non-invasive prenatal testing for detection of Down syndrome in China: a cost-effectiveness analysis [2021]

• Frontiers in Public Health
  • Cost-effectiveness of different screening strategies for Down syndrome: a real-world analysis in 140,472 women [2025]
  • A Cost-Effectiveness Analysis of Screening Strategies Involving Non-Invasive Prenatal Testing for Trisomy 21 [2022]

• Scientific Reports
  • Clinical strategy study on prenatal screening and diagnostic model for Down syndrome [2024]

Denmark

• Acta Obstetricia et Gynecologica Scandinavica
  • Impact of a prenatal screening program on the Down syndrome phenotype: An interrupted time series analysis [2023]
  • National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark [2018]

• BMJ
  • Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study [2009]

• JMIR Research Protocols
  • Informed Choice for Participation in Down Syndrome Screening: Development and Content of a Web-Based Decision Aid [2015]

• Prenatal Diagnosis
  • Is the first-trimester combined screening result associated with the phenotype of Down syndrome? A population-based cohort study [2023]

Finland

• Journal of Perinatal Medicine
  • Cost of providing cell-free DNA screening for Down syndrome in Finland using different strategies [2021]

France

• BMC Pregnancy and Childbirth
  • Does women’s place of birth affect their opportunity for an informed choice about Down syndrome screening? A population-based study in France [2021]

• Haute Autorité de Santé
  • Tests based on cell-free DNA in the context of screening for trisomy 21 [2024]

• Midwifery
  • Why do French women refuse to have Down's syndrome screening by maternal serum testing? A mixed methods study [2022]

Germany

• Fetal Diagnosis and Therapy
  • Universal Cell Free DNA or Contingent Screening for Trisomy 21: Does It Make a Difference? A Comparative Study with Real Data [2022]

International

• International Journal of Environmental Research and Public Health
  • Demographic Assessment of Down Syndrome: A Systematic Review [2021]

• PLoS ONE
  • The implementation and impact of non-invasive prenatal testing (NIPT) for Down's syndrome into antenatal screening programmes: A systematic review and meta-analysis [2024]

• Prenatal Diagnosis
  • Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome? [2017]

Netherlands

• BMC Pregnancy and Childbirth
  • Reasons for accepting or declining Down syndrome screening in Dutch prospective mothers within the context of national policy and healthcare system characteristics: a qualitative study [2016]

• European Journal of Pediatrics
  • Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study [2023]

• Prenatal Diagnosis
  • Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study [2021]

New Zealand

• Health New Zealand
  • Antenatal Screening for Down Syndrome and Other Conditions: Guidelines for Health Practitioners [2024]
  • Antenatal screening for Down syndrome and other conditions: Guidelines for nuchal translucency (NT) and crown rump length (CRL) measurement [2015]
  • Antenatal Screening for Down Syndrome and Other Conditions

• Starship
  • Down Syndrome - management of the neonate

Norway

• Tidsskrift for Den norske legeforening
  • Trisomy 21 – incidence, diagnostics and pregnancy terminations 1999–2018 [2021]

Republic of Korea

• Journal of Korean Medical Science
  • Estimating Nationwide Prevalence of Live Births with Down Syndrome and Their Medical Expenditures in Korea [2019]

Slovenia

• PLoS ONE
  • Impact of prenatal screening on the prevalence of Down syndrome in Slovenia [2017]

South Africa

• South African Medical Journal
  • Trisomy 21 screening with alpha software and the Fetal Medicine Foundation algorithm [2023]

Spain

• Cost Effectiveness and Resource Allocation
  • The consequences of implementing non-invasive prenatal testing with cell-free foetal DNA for the detection of Down syndrome in the Spanish National Health Service: a cost-effectiveness analysis [2019]

Taiwan

• BMC Pregnancy and Childbirth
  • The impact of prenatal screening tests on prenatal diagnosis in Taiwan from 2006 to 2019: a regional cohort study [2022]

Thailand

• BMC Health Services Research
  • Fetal Down syndrome screening models for developing countries; Part II: Cost-benefit analysis [2019]
  • Fetal Down syndrome screening models for developing countries; Part I: Performance of Maternal Serum Screening [2019]

• International Journal of Public Health
  • Performance of Serum Quad Test in Screening for Fetal Down Syndrome in a Large-Scale Unselected Population in a Developing Country [2023]

• PLoS ONE
  • Ethnic-specific reference range affects the efficacy of quadruple test as a universal screening for Down syndrome in a developing country [2021]

United Kingdom

• Journal of Medical Screening
  • Antenatal screening for Down’s syndrome: Revised nuchal translucency upper truncation limit due to improved precision of measurement [2021]

• NHS England
  • Down’s syndrome screening quality assurance support service: report types
  • Down’s syndrome screening quality assurance support service

• Right Decisions
  • Trisomy 21 - Care Pathway

• UK National Screening Committee
  • Down's syndrome

United States

• American College of Medical Genetics and Genomics
  • Prenatal screening for trisomy 21 (Down syndrome) using first- and second-trimester biochemistry and nuchal translucency: A technical standard of the American College of Medical Genetics and Genomics (ACMG) [2025]
  • Technical standards and guidelines: prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements [2009]

• International Journal of Women's Health
  • Noninvasive screening tools for Down syndrome: a review [2013]

• JAMA Network Open
  • Association Between Rates of Down Syndrome Diagnosis in States With vs Without 20-Week Abortion Bans From 2011 to 2018 [2023]

• Journal of Medical Screening
  • Prenatal serum screening for Down syndrome and neural tube defects in the United States: Changes in utilization patterns from 2012 to 2020 [2021]

• National Institute of Child Health and Human Development
  • How do health care providers diagnose Down syndrome?

• PLOS Biology
  • Chloe’s Law: A Powerful Legislative Movement Challenging a Core Ethical Norm of Genetic Testing [2015]

• Prenatal Diagnosis
  • Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995–2011) [2012]

Western countries

• European Journal of Human Genetics
  • Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990-2021 [2023]

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