Obstetrics, gynecology, andrology, sexual and reproductive health

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]

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]

Denmark

• Acta Obstetricia et Gynecologica Scandinavica
  • 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]

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]

International

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

• 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]

• 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

• National Screening Unit
  • Antenatal Screening for Down Syndrome and Other Conditions

• Starship
  • Down Syndrome - management of the neonate [2018]

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]

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

• GG&C Paediatric Guidelines
  • Trisomy 21 - Care Pathway

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

• Public Health England
  • Twin pregnancies: second trimester screening for Down’s syndrome
  • Down’s syndrome screening: chance calculation software requirements
  • Down’s syndrome screening quality assurance support service

United States

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

• 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]