Prenatal screening and diagnosis

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Noninvasive prenatal testing

Australia

• Australian Family Physician
  • Non-invasive prenatal testing [2017]

Austria, Germany, Switzerland

• Ultraschall in der Medizin
  • Cell-Free DNA Testing for Fetal Chromosomal Anomalies in clinical practice: Austrian-German-Swiss Recommendations for non-invasive prenatal tests (NIPT) [2015]

Belgium, Netherlands

• JCO Oncology Practice
  • Comprehensive Recommendations for the Clinical Management of Pregnant Women With Noninvasive Prenatal Test Results Suspicious of a Maternal Malignancy [2024]

Brazil

• Revista da Associação Médica Brasileira
  • Use of cell-free fetal nucleic acids in maternal blood for prenatal diagnosis: the reality of this scenario in Brazil [2012]

Canada

• BMJ Open
  • Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis [2023]

• Canada's Drug Agency
  • Non-invasive Prenatal Testing: A Review of the Cost Effectiveness and Guidelines [2014]

• Ontario Health
  • Perspectives of Pregnant People and Clinicians on Noninvasive Prenatal Testing: A Systematic Review and Qualitative Meta-synthesis [2019]
  • Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions: A Health Technology Assessment [2019]

• Society of Obstetricians and Gynaecologists of Canada
  • Abnormal maternal serum markers and adverse pregnancy outcomes [2025]

Denmark

• Ultrasound in Obstetrics & Gynecology
  • Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening [2014]

Europe

• European Journal of Human Genetics
  • The ethical landscape(s) of non-invasive prenatal testing in England, France and Germany: findings from a comparative literature review [2022]

• Prenatal Diagnosis
  • Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion [2017]

Europe, United States

• European Society of Human Genetics
  • Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening [2015]

• International Journal of Gynecology & Obstetrics
  • Non-invasive prenatal testing: Navigating the ethical, legal, and social frontiers of modern obstetric practice [2025]

Germany

• Development & Reproduction
  • A Normative Review on Non-Invasive Prenatal Diagnosis (NIPD): Focusing on the German Discussion on PrenaTest [2021]

• European Journal of Human Genetics
  • Non-invasive prenatal testing in Germany: a unique ethical and policy landscape [2023]

International

• Acta Obstetricia et Gynecologica Scandinavica
  • Noninvasive prenatal testing and maternal obesity: A review [2020]

• American Journal of Bioethics
  • Non-Invasive Prenatal Testing for "Non-Medical" Traits: Ensuring Consistency in Ethical Decision-Making [2023]

• BMC Pregnancy and Childbirth
  • Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women's experiences [2019]

• Diagnostics
  • Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions [2023]

• International Journal of Molecular Sciences
  • Noninvasive Prenatal Paternity Testing: A Review on Genetic Markers [2025]

• International Journal of Women's Health
  • Non-invasive prenatal testing: a review of international implementation and challenges [2015]

• International Society for Prenatal Diagnosis
  • Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies [2023]

• International Society of Ultrasound in Obstetrics and Gynecology
  • ISUOG updated consensus statement on the impact of cfDNA aneuploidy testing on screening policies and prenatal ultrasound practice [2017]
  • ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice [2014]

• Medical Decision Making
  • Impact of Structural Differences on the Modeled Cost-Effectiveness of Noninvasive Prenatal Testing [2024]

• Medicine, Health Care and Philosophy
  • "Overestimated technology - underestimated consequences" - reflections on risks, ethical conflicts, and social disparities in the handling of non-invasive prenatal tests (NIPTs) [2023]

• PLoS ONE
  • Genome-Wide, Non-Invasive Prenatal Testing for rare chromosomal abnormalities: A systematic review and meta-analysis of diagnostic test accuracy [2024]

• Prenatal Diagnosis
  • Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study [2023]
  • Global perspectives on clinical adoption of NIPT [2015]

Italy

• Ministero della Salute
  • Guidelines DNA-based Non-Invasive Prenatal Testing - NIPT [2015]

Japan

• International Journal of Environmental Research and Public Health
  • Non-Invasive Prenatal Testing (NIPT) Implementation in Japan: A Comparison with the United Kingdom, Germany, Italy, Sweden, and Taiwan [2022]

Netherlands

• Acta Obstetricia et Gynecologica Scandinavica
  • Uptake of fetal aneuploidy screening after the introduction of the non-invasive prenatal test: A national population-based register study [2021]

• American Journal of Human Genetics
  • TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands [2019]

• Bioethics
  • Rethinking counselling in prenatal screening: An ethical analysis of informed consent in the context of non-invasive prenatal testing (NIPT) [2020]

• European Journal of Human Genetics
  • Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program [2023]

New Zealand

• Health New Zealand
  • Non-invasive prenatal screening

Norway

• Acta Obstetricia et Gynecologica Scandinavica
  • Controversies in implementing non-invasive prenatal testing in a public antenatal care program [2022]

United Kingdom

• Genetics Research
  • Cytogenomic results following high-chance non-invasive prenatal testing: a UK national audit [2020]

• NHS England
  • Screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome: non-invasive prenatal testing (NIPT)

• Prenatal Diagnosis
  • Delivering an accredited non-invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice [2018]

• Royal College of Obstetricians and Gynaecologists
  • Non-invasive Prenatal Testing for Chromosomal Abnormality using Maternal Plasma DNA [2014]

United States

• AJP Reports
  • Obstetrician and Gynecologist Utilization of the Noninvasive Prenatal Testing Expanded Option [2015]

• American College of Medical Genetics and Genomics
  • Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) [2023]
  • Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies [2022]
  • Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG) [2017]
  • Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics [2016]

• American College of Obstetricians and Gynecologists
  • Non-Invasive Prenatal Testing

• Annual Review of Biomedical Data Science
  • Noninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities [2023]

• BMC Pregnancy and Childbirth
  • Patient perspectives on noninvasive prenatal testing among black women in the United States: a scoping review [2023]

• National Society of Genetic Counselors
  • Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors [2013]

• PLoS ONE
  • An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population [2015]
  • A Cost-Effectiveness Analysis of First Trimester Non-Invasive Prenatal Screening for Fetal Trisomies in the United States [2015]

• Prenatal Diagnosis
  • Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk [2020]
  • Commercial Landscape of noninvasive prenatal testing in the United States [2013]
  • Best Ethical Practices for Clinicians and Laboratories in the Provision of Non-Invasive Prenatal Testing [2013]

• Society for Maternal-Fetal Medicine
  • SMFM Statement: clarification of recommendations regarding cell-free DNA aneuploidy screening [2015]
  • #36: Prenatal aneuploidy screening using cell-free DNA [2015]

Vietnam

• Journal of Maternal-Fetal & Neonatal Medicine
  • High prevalence of maternal mosaic monosomy X in pregnant women in Vietnam [2023]

• Scientific Reports
  • Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study [2025]

Western countries

• Acta Obstetricia et Gynecologica Scandinavica
  • Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation [2020]

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  • Prenatal screening and diagnosis