Maternal blood screening, non-invasive prenatal testing :

Obstetrics, gynecology, andrology, sexual and reproductive health

Prenatal screening and diagnosis

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Maternal blood screening, non-invasive prenatal testing

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

Medical Services Advisory Committee
- Non-invasive prenatal testing (NIPT) [2019]

Australia, Europe, United States

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

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]

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]

Canadian Agency for Drugs and Technologies in Health
- 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]

Intractable & Rare Diseases Research
- Noninvasive prenatal testing in China: Future detection of rare genetic diseases? [2014]

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]

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]

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

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

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

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]

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]

Journal of Prenatal Medicine
- Position statement from the Italian College of Fetal Maternal Medicine: Non-invasive prenatal testing (NIPT) by maternal plasma DNA sequencing [2013]

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

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]

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]

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

Nordic Federation of Societies of Obstetrics and Gynecology
- Analysis of foetal DNA in the woman's blood: non-invasive prenatal testing (NIPT) for trisomy 13, 18 and 21 [2016]

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]

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]

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]

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

{Related topics}

Guidelines
- Prenatal screening and diagnosis