Obstetrics, gynecology, andrology, sexual and reproductive health

Prenatal screening and diagnosis

Guidelines, reviews, epidemiology

Amniocentesis, chorionic villus sampling

• Europe
  • Ultrasound in Obstetrics & Gynecology
    • New approach for estimating risk of miscarriage after chorionic villus sampling [2020]
• International
  • International Society of Ultrasound in Obstetrics and Gynecology
    • ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis [2016]
  • Medicina
    • Invasive Prenatal Diagnostic Testing for Aneuploidies in Singleton Pregnancies: A Comparative Review of Major Guidelines [2022]
  • Ultrasound in Obstetrics & Gynecology
    • Trials and tribulations of meta-analyzing procedure-related risks of amniocentesis and chorionic villus sampling [2019]
    • Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis [2019]
• Republic of Korea
  • Journal of Korean Medical Science
    • Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine: (2) Invasive Diagnostic Testing for Fetal Chromosomal Abnormalities [2021]
• Taiwan
  • Journal of the Formosan Medical Association
    • Complication rates after chorionic villus sampling and midtrimester amniocentesis: A 7-year national registry study [2019]
• United Kingdom
  • Journal of Clinical Medicine
    • Pregnancy Loss Following Amniocentesis or CVS Sampling—Time for a Reassessment of Risk [2014]
  • Royal College of Obstetricians and Gynaecologists
    • Amniocentesis and Chorionic Villus Sampling [2021]
• United States
  • Association for Molecular Pathology
    • Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses [2011]
• {Related topics}
  • Topic
    • Prenatal screening and diagnosis

Cystic fibrosis: prenatal screening and diagnosis

• 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
  • Genes
    • Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed? [2021]
• 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)
• {Related topics}
  • Topic
    • Prenatal screening and diagnosis
    • Cystic fibrosis

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]
  • Frontiers in Public Health
    • A Cost-Effectiveness Analysis of Screening Strategies Involving Non-Invasive Prenatal Testing for Trisomy 21 [2022]
• 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]
  • 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]
  • 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]
  • NHS England
    • Down’s syndrome screening quality assurance support service: report types
  • 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
  • UK National Screening Committee
    • Down's syndrome
• United States
  • American College of Medical Genetics and Genomics
    • 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]
  • 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]

Fragile X syndrome: prenatal screening and diagnosis

• China
  • Molecular Genetics & Genomic Medicine
    • Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy [2020]
• Europe
  • European Molecular Genetics Quality Network
    • EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders [2015]
• India
  • Indian Academy of Pediatrics
    • Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India [2019]
• Taiwan
  • Scientific Reports
    • Fragile X syndrome carrier screening in pregnant women in Chinese Han population [2019]
• United Kingdom
  • Genes
    • Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations [2016]
  • UK National Screening Committee
    • Fragile X
• United States
  • American College of Medical Genetics and Genomics
    • Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) [2021]
• {Related topics}
  • Topic
    • Prenatal screening and diagnosis

Maternal blood screening, non-invasive prenatal testing

• Australia
  • 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]
• 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
  • 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]
• China
  • Intractable & Rare Diseases Research
    • Noninvasive prenatal testing in China: Future detection of rare genetic diseases? [2014]
• 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]
• Germany
  • Development & Reproduction
    • A Normative Review on Non-Invasive Prenatal Diagnosis (NIPD): Focusing on the German Discussion on PrenaTest [2021]
• International
  • 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]
• Italy
  • 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]
• 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]
• Norway
  • Acta Obstetricia et Gynecologica Scandinavica
    • Controversies in implementing non-invasive prenatal testing in a public antenatal care program [2022]
• Sweden
  • 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]
• 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]
  • 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]
• {Related topics}
  • Topic
    • Prenatal screening and diagnosis

Preimplantation diagnosis

• Australia
  • Medical Services Advisory Committee
    • Protocol to guide the assessment of Preimplantation Genetic Diagnosis [2014]
• Brazil
  • Brazilian Journal of Medical and Biological Research
    • Practices and ethical concerns regarding preimplantation diagnosis. Who regulates preimplantation genetic diagnosis in Brazil? [2014]
• Canada
  • Canadian Fertility & Andrology Society
    • Preimplantation genetic testing for aneuploidy: A Canadian Fertility and Andrology Society Guideline [2021]
  • Society of Obstetricians and Gynaecologists of Canada
    • Prenatal Testing After IVF With Preimplantation Genetic Testing for Aneuploidy [2020]
• China
  • BMC Pregnancy and Childbirth
    • Cost-effectiveness of preimplantation genetic testing for aneuploidy for women with subfertility in China: an economic evaluation using evidence from the CESE-PGS trial [2023]
• Europe
  • European Society of Human Genetics
    • The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice [2022]
  • European Society of Human Reproduction and Embryology
    • ESHRE survey results and good practice recommendations on managing chromosomal mosaicism [2022]
    • ESHRE PGT Consortium good practice recommendations for the organisation of PGT [2020]
    • ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations [2020]
    • ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders [2020]
    • ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for PGT [2020]
    • ESHRE Task Force on Ethics and Law 22: Preimplantation Genetic Diagnosis [2014]
    • ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening [2011]
    • ESHRE PGD consortium best practice guidelines for fluorescence in situ hybridization-based PGD [2011]
    • ESHRE PGD consortium best practice guidelines for amplification-based PGD [2011]
    • ESHRE PGD Consortium/Embryology Special Interest Group—best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS) [2011]
    • ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006 [2008]
  • Human Reproduction
    • Providing preimplantation genetic diagnosis in the United Kingdom, The Netherlands and Germany: a comparative in-depth analysis of health-care access [2009]
• Europe, United States
  • Reproductive Biomedicine & Society Online
    • Comparative preimplantation genetic diagnosis policy in Europe and the USA and its implications for reproductive tourism [2016]
• International
  • Acta Obstetricia et Gynecologica Scandinavica
    • A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening? [2020]
  • Reproductive Biology and Endocrinology
    • Commentary on two recently published formal guidelines on management of “mosaic” embryos after preimplantation genetic testing for aneuploidy (PGT-A) [2021]
    • The 2019 PGDIS position statement on transfer of mosaic embryos within a context of new information on PGT-A [2020]
• Nordic countries
  • Acta Obstetricia et Gynecologica Scandinavica
    • Preimplantation genetic testing practices in the Nordic countries [2020]
    • Preimplantation genetic testing legislation and accessibility in the Nordic countries [2020]
• Saudi Arabia
  • Bioinformation
    • Preimplantation genetic diagnosis in Saudi Arabia [2013]
• Sweden
  • Human Reproduction
    • Preimplantation genetic testing and child health: a national register-based study [2023]
• United Kingdom
  • Journal of Assisted Reproduction and Genetics
    • Does PGT-A improve assisted reproduction treatment success rates: what can the UK Register data tell us? [2022]
  • NHS England
    • Clinical commissioning policy: pre-implantation genetic testing of embryos at significant risk of serious genetic conditions [2023]
    • Pre-implantation Genetic Diagnosis (PGD) [2014]
• United Kingdom, United States
  • Human Reproduction
    • The status of preimplantation genetic testing in the UK and USA [2020]
• United States
  • AMA Journal of Ethics
    • Who Should Regulate Preimplantation Genetic Diagnosis in the United States? [2018]
  • American College of Obstetricians and Gynecologists
    • Preimplantation Genetic Testing [2020]
  • American Society for Reproductive Medicine
    • Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts: a committee opinion [2020]
    • Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinion [2018]
    • The use of preimplantation genetic testing for aneuploidy (PGT-A): a committee opinion [2018]
    • Disclosure of sex when incidentally revealed as part of preimplantation genetic testing (PGT): an Ethics Committee opinion [2018]
    • Transferring embryos with genetic anomalies detected in preimplantation testing: an Ethics Committee Opinion [2017]
  • Human Genomics
    • Preimplantation genetic testing for aneuploidy: challenges in clinical practice [2022]
  • JAMA
    • Trends and Outcomes for Preimplantation Genetic Testing in the United States, 2014-2018 [2022]
  • JAMA Network Open
    • Association of State Insurance Mandates for Fertility Treatment With Multiple Embryo Transfer After Preimplantation Genetic Testing for Aneuploidy [2023]
  • Journal of Assisted Reproduction and Genetics
    • Utilization of preimplantation genetic testing in the USA [2021]
    • Preimplantation genetic testing and chances of a healthy live birth amongst recipients of fresh donor oocytes in the United States [2020]
    • Pre-implantation genetic testing alters the sex ratio: an analysis of 91,805 embryo transfer cycles [2020]
  • Trends in Molecular Medicine
    • Preimplantation Genetic Testing for Aneuploidy – a Castle Built on Sand [2021]
• {Related topics}
  • Topic
    • Prenatal screening and diagnosis
    • Ethics, jurisprudence: reproductive techniques
    • Assisted reproductive techniques

Prenatal screening and diagnosis

• Australia
  • Australian Family Physician
    • Decreased fetal movements: a practical approach in a primary care setting [2014]
    • Antenatal screening – the first and second trimester [2011]
  • Better Safer Care
    • Decreased fetal movements
  • Medical Services Advisory Committee
    • Genome-wide microarray testing for pregnancies with major foetal structual abnormalities detected by ultrasound [2019]
    • Obstetric MRI [2018]
  • Queensland Clinical Guidelines
    • Fetal movements
• Australia, New Zealand
  • Journal of Nuclear Medicine Technology
    • Pregnancy Screening Strategies for Diagnostic Nuclear Medicine: Survey Results from Australia and New Zealand [2013]
  • Perinatal Society of Australia and New Zealand
    • Clinical practice guideline for the care of women with decreased fetal movements for women with a singleton pregnancy from 28 weeks’ gestation [2019]
  • Royal Australian and New Zealand College of Obstetricians and Gynaecologists
    • Prenatal screening for fetal genetic and structural conditions [2019]
    • Prenatal screening and diagnosis of chromosomal and genetic conditions [2018]
• Austria, Germany, Switzerland
  • Ultraschall in der Medizin
    • DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures [2019]
• Canada
  • British Columbia Medical Journal
    • Prenatal screening options in British Columbia [2018]
  • Canadian Agency for Drugs and Technologies in Health
    • Genetic Carrier Screening for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies, and Spinal Muscular Atrophy [2021]
  • Canadian Association of Radiologists
    • Canadian Association of Radiologists Recommendations for the Safe Use of MRI During Pregnancy [2021]
  • Canadian College of Medical Geneticists
    • Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists [2022]
    • Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada [2018]
  • Canadian Family Physician
    • Maternal age–based prenatal screening for chromosomal disorders [2013]
    • Prenatal genetic counseling in cross-cultural medicine: A framework for family physicians [2010]
  • Journal of Obstetrics and Gynaecology Canada
    • Antenatal Fetal Assessment: 75 Years Later (1945-2019) [2019]
  • Perinatal Services BC
    • Prenatal Screening for Down Syndrome, Trisomy 18, and Open Neural Tube Defects [2020]
  • Society of Obstetricians and Gynaecologists of Canada
    • Fetal Health Surveillance: Antepartum Consensus Guideline [2018]
    • Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies [2017]
    • Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes [2017]
    • Amniotic Fluid: Technical Update on Physiology and Measurement [2017]
    • Joint SOGC–CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing [2016]
    • Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits [2015]
• Cuba
  • Journal of Community Genetics
    • SCA2 predictive testing in Cuba: challenging concepts and protocol evolution [2015]
• Europe
  • EUROCAT
    • Prenatal Screening Policies in Europe [2010]
  • European Molecular Genetics Quality Network
    • EMQN best practice guidelines for genetic testing in dystrophinopathies [2020]
    • EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease [2013]
  • European Society of Human Genetics
    • Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) [2014]
  • Journal of Global Health
    • Antenatal screening practices in the WHO European Region: a mixed methods study [2020]
• Germany, Republic of Korea
  • Development & Reproduction
    • Legislation on Genetic Diagnosis: Comparison of South Korea and Germany [2015]
• India
  • Indian Journal of Medical Research
    • Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario [2017]
    • Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India [2011]
  • Indian Journal of Public Health
    • Prenatal diagnosis: A connotation on genetic counseling being indispensable [2020]
• International
  • Intergrowth-21st
    • The INTERGROWTH-21st fetal growth standards: toward the global integration of pregnancy and pediatric care [2018]
  • International Society for Prenatal Diagnosis
    • Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis [2018]
    • Position Statement from the Chromosome Abnormality Screening Committee on Behalf of the ISPD Board of Directors [2015]
    • Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011 [2011]
  • International Society of Ultrasound in Obstetrics and Gynecology
    • ISUOG Practice Guidelines (updated): performance of fetal magnetic resonance imaging [2023]
    • ISUOG Practice Guidelines: performance of fetal magnetic resonance imaging [2017]
• Italy
  • Società Italiana di Genetica Umana
    • Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU) [2012]
• Low and middle income countries
  • PLoS ONE
    • Measurement of symphysis fundal height for gestational age estimation in low-to-middle-income countries: A systematic review and meta-analysis [2022]
  • World Health Organization
    • Community genetics services : report of a WHO consultation on community genetics in low- and middle-income countries [2011]
• Netherlands
  • Paediatric and Perinatal Epidemiology
    • Prenatal diagnosis and pregnancy outcome of major structural anomalies detectable in the first trimester: A population-based cohort study in the Netherlands [2022]
• OECD countries
  • Social Science & Medicine
    • Benefits and harms adopted by health economic assessments evaluating antenatal and newborn screening programmes in OECD countries: A systematic review of 336 articles and reports [2022]
• Poland
  • Ginekologia Polska
    • Recommendations for prenatal diagnostics of the Polish Society of Gynaecologists and Obstetricians and the Polish Society of Human Genetics [2022]
• Republic of Korea
  • Journal of Korean Medical Science
    • Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine: (1) Prenatal Aneuploidy Screening [2021]
• Sweden
  • BMC Pregnancy and Childbirth
    • Prenatal diagnosis in Sweden 2011 to 2013—a register-based study [2016]
• United Kingdom
  • Applied Health Economics and Health Policy
    • Vision Amniotic Leak Detector (ALD) to Eliminate Amniotic Fluid Leakage as a Cause of Vaginal Wetness in Pregnancy: A NICE Medical Technology Guidance [2015]
  • BMC Pregnancy and Childbirth
    • Evaluation of the quality of guidelines for the management of reduced fetal movements in UK maternity units [2015]
  • Health Technology Assessment
    • MRI in the diagnosis of fetal developmental brain abnormalities: the MERIDIAN diagnostic accuracy study [2019]
  • Healthcare Improvement Scotland
    • Pregnancy and Newborn Screening: Fetal Anomaly Standards [2019]
  • National Institute for Health and Care Excellence
    • Monitoring fetal growth [2021]
    • Fetal movement monitoring [2021]
    • Vision Amniotic Leak Detector to assess unexplained vaginal wetness in pregnancy [2013]
  • NHS England
    • Rapid exome sequencing service guidance: Fetal anomalies testing [2021]
    • Fetal anomaly screening: programme handbook
    • Fetal anomaly screening programme: standards
  • Public Health England
    • NHS antenatal and newborn screening programmes: resources for laboratories
    • Fetal anomaly screening: providing services
    • Fetal anomaly screening: care pathways
    • Fetal anomaly screening laboratory handbook: Down’s syndrome, Edwards’ syndrome and Patau’s syndrome
    • Antenatal and newborn screening: quality assurance procedures
    • Antenatal and newborn screening: laboratory quality assurance
  • Public Health Scotland
    • Scottish pregnancy screening changes - information needs research 2020 [2020]
  • Public Health Wales
    • Antenatal Screening Wales
  • Royal College of Obstetricians and Gynaecologists
    • Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in the Evaluation of the Fetus with Congenital Anomalies [2021]
    • The Combined Use of Ultrasound and Fetal Magnetic Resonance Imaging for a Comprehensive Fetal Neurological Assessment in Fetal Congenital Cardiac Defects [2019]
    • Diagnostic Biomarkers for Predicting Adverse Early Pregnancy Outcomes [2018]
  • UK National Screening Committee
    • T18 and T13
    • Fetal anomalies
• United States
  • American College of Medical Genetics and Genomics
    • Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) [2021]
    • Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG) [2021]
    • The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG) [2020]
    • ACMG position statement on prenatal/ preconception expanded carrier screening [2013]
  • American College of Obstetricians and Gynecologists
    • Indications for Outpatient Antenatal Fetal Surveillance [2021]
    • Consumer Testing for Disease Risk [2021]
    • Modern Genetics in Obstetrics and Gynecology [2018]
    • Access to Genetic Testing [2018]
    • Methods for Estimating the Due Date [2017]
    • Management of Suboptimally Dated Pregnancies [2017]
    • Guidelines for Diagnostic Imaging During Pregnancy and Lactation [2017]
    • Counseling About Genetic Testing and Communication of Genetic Test Results [2017]
    • Carrier Screening in the Age of Genomic Medicine [2017]
    • Carrier Screening for Genetic Conditions [2017]
    • Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology [2016]
  • American College of Radiology
    • ACR-SPR Practice Parameter for the Safe and Optimal Performance of Fetal Magnetic Resonance Imaging (MRI)
  • National Society of Genetic Counselors
    • NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy [2013]
  • Prenatal Diagnosis
    • ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient? [2018]
  • Reproductive Health
    • Latinx individuals' knowledge of, preferences for, and experiences with prenatal genetic testing: a scoping review [2022]
  • Society for Maternal-Fetal Medicine
    • The role of ultrasound in women who undergo cell-free DNA screening [2017]
    • The use of chromosomal microarray for prenatal diagnosis [2016]
    • Fetal blood sampling [2013]
• {Related topics}
  • Topic
    • Prenatal ultrasound
    • Preimplantation diagnosis
    • Obstetrics, perinatology
    • Neonatal screening
    • Maternal blood screening, non-invasive prenatal testing
    • Fragile X syndrome: prenatal screening and diagnosis
    • Fetal therapy
    • Ethics, jurisprudence: obstetrics, gynecology, sexual and reproductive rights
    • Down syndrome: prenatal screening and diagnosis
    • Cystic fibrosis: prenatal screening and diagnosis
    • Amniocentesis, chorionic villus sampling

Prenatal ultrasound

• Australia, New Zealand
  • Australasian Society for Ultrasound in Medicine
    • Guidelines for the Performance of First Trimester Ultrasound [2021]
    • Normal Ultrasonic Fetal Measurements Standard [2018]
    • Guidelines for the performance of second(mid) trimester US [2018]
    • Guidelines for the Performance of Third Trimester Ultrasound [2014]
  • Royal Australian and New Zealand College of Obstetricians and Gynaecologists
    • Prenatal assessment of fetal structural conditions [2018]
• Brazil
  • Revista da Associação Médica Brasileira
    • Ultrasound in the first trimester of pregnancy [2020]
    • What is the role of routine ultrasonography performed in the first trimester of low-risk pregnancy? [2017]
• Canada
  • BMC Pregnancy and Childbirth
    • Factors associated with the timing of the first prenatal ultrasound in Canada [2019]
  • Canadian Association of Radiologists
    • Ultrasound - Performing Diagnostic Obstetric Ultrasound Examinations [2010]
  • Perinatal Services BC
    • Ultrasound Assessments
  • Public Health Agency of Canada
    • Evaluation of the INTERGROWTH-21st project newborn standard for use in Canada [2017]
  • Society of Obstetricians and Gynaecologists of Canada
    • The Complete 11–14 Week Prenatal Sonographic Examination [2021]
    • Point of Care Ultrasound in Obstetrics and Gynaecology [2021]
    • Determination of Gestational Age by Ultrasound [2019]
    • Clinical Practice Guideline on the Use of First Trimester Ultrasound [2019]
    • Obstetric Ultrasound Biological Effects and Safety [2018]
    • Technical Update: The Role of Early Comprehensive Fetal Anatomy Ultrasound Examination [2017]
    • Content of a Complete Routine Second Trimester Obstetrical Ultrasound Examination and Report [2017]
    • Ultrasound Evaluation of First Trimester Complications of Pregnancy [2016]
• Denmark
  • Danish Medical Journal
    • Live birth prevalence of atrioventricular septal defect after the implementation of new prenatal screening guidelines [2022]
    • Foetal sex determination at the second trimester anomaly scan in Denmark [2019]
• Ethiopia
  • BMJ Open
    • Effect of USAID-funded obstetric ultrasound service interventions on maternal and perinatal health outcomes at primary healthcare facilities in Ethiopia: a propensity score matching analysis [2022]
• Europe
  • European Achondroplasia Forum
    • Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations [2022]
• France
  • Acta Obstetricia et Gynecologica Scandinavica
    • Testing the assumptions of customized intrauterine growth charts using national birth studies [2022]
  • BMJ Open
    • Cost and outcomes of the ultrasound screening program for birth defects over time: a population-based study in France [2020]
• India
  • Indian Journal of Nephrology
    • Revised guidelines on management of antenatal hydronephrosis [2013]
  • Journal of Fetal Medicine
    • Society of Fetal Medicine Practice Guidelines for the Second Trimester Anomalies Scan [2014]
• India, Sub-Saharan Africa
  • BMJ Open
    • Antenatal Doppler screening for fetuses at risk of adverse outcomes: a multicountry cohort study of the prevalence of abnormal resistance index in low-risk pregnant women [2022]
• International
  • Archives of Gynecology and Obstetrics
    • The diagnostic performance of the ductus venosus for the detection of cardiac defects in the first trimester: a systematic review and diagnostic test accuracy meta-analysis [2023]
  • BMJ Open
    • Portable ultrasound technologies for estimating gestational age in pregnant women: a scoping review and analysis of commercially available models [2022]
  • Intergrowth-21st
    • Fetal growth velocity standards from the Fetal Growth Longitudinal Study of the INTERGROWTH-21st Project [2021]
    • Achieving accurate estimates of fetal gestational age and personalised predictions of fetal growth based on data from an international prospective cohort study: a population-based machine learning study [2020]
    • International standards for early fetal size and pregnancy dating based on ultrasound measurement of crown–rump length in the first trimester of pregnancy [2014]
    • Ultrasound methodology used to construct the fetal growth standards in the INTERGROWTH-21st Project [2013]
    • Statistical considerations for the development of prescriptive fetal and newborn growth standards in the INTERGROWTH-21st Project [2013]
    • Standardisation of crown–rump length measurement [2013]
    • Standardisation and quality control of ultrasound measurements taken in the INTERGROWTH-21st Project [2013]
    • Managing data for the international, multicentre INTERGROWTH-21st Project [2013]
    • Fetal biometry: how well can offline measurements from three-dimensional volumes substitute real-time two-dimensional measurements? [2013]
    • Estimation of gestational age in early pregnancy from crown-rump length when gestational age range is truncated: the case study of the INTERGROWTH-21st Project [2013]
    • Conceptual basis for prescriptive growth standards from conception to early childhood: present and future [2013]
  • International Society of Ultrasound in Obstetrics and Gynecology
    • ISUOG Practice Guidelines (updated): performance of 11-14-week ultrasound scan [2023]
    • ISUOG statement on the safe use of Doppler for fetal ultrasound examination in the first 13 + 6 weeks of pregnancy (updated) [2021]
    • ISUOG statement on the non-diagnostic use of ultrasound in pregnancy [2021]
    • ISUOG Practice Guidelines (updated): use of Doppler velocimetry in obstetrics [2021]
    • ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted neurosonography [2021]
    • ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 1: performance of screening examination and indications for targeted neurosonography [2020]
    • ISUOG Practice Guidelines: ultrasound assessment of fetal biometry and growth [2019]
    • Three-dimensional ultrasound imaging of the fetal skull and face [2017]
    • ISUOG Education Committee recommendations for basic training in obstetric and gynecological ultrasound [2014]
    • ISUOG Practice Guidelines (updated): sonographic screening examination of the fetal heart [2013]
    • Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan [2011]
    • Statements & Guidelines
  • Journal of Maternal-Fetal & Neonatal Medicine
    • Estimated fetal weight standards of the INTERGROWTH-21st project for the prediction of adverse outcomes: a systematic review with meta-analysis [2023]
  • PLoS Medicine
    • The World Health Organization Fetal Growth Charts: A Multinational Longitudinal Study of Ultrasound Biometric Measurements and Estimated Fetal Weight [2017]
• Ireland
  • Ireland's Health Services
    • The Fetal Anatomy Ultrasound [2023]
  • Irish Medical Journal
    • Maternity Ultrasound in the Republic of Ireland 2016; A Review [2017]
• Low and middle income countries
  • BMC Public Health
    • Cost estimation alongside a multi-regional, multi-country randomized trial of antenatal ultrasound in five low-and-middle-income countries [2021]
  • BMJ Paediatrics Open
    • Investigating the use of ultrasonography for the antenatal diagnosis of structural congenital anomalies in low-income and middle-income countries: a systematic review [2020]
• Netherlands
  • BMC Pregnancy and Childbirth
    • Informed choice and routinization of the second-trimester anomaly scan: a national cohort study in the Netherlands [2023]
  • Prenatal Diagnosis
    • Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening? [2020]
• New Zealand
  • Ministry of Health New Zealand
    • New Zealand Obstetric Ultrasound Guidelines [2019]
• Nigeria
  • Pan African Medical Journal
    • Fetal nuchal translucency scan in Nigeria [2014]
• Norway
  • Tidsskrift for Den norske legeforening
    • Flawed recommendation issued by the Norwegian Directorate of Health concerning the determination of fetal age [2015]
• Poland
  • Ginekologia Polska
    • Practice guidelines of the Polish Society of Gynecologists and Obstetricians — Ultrasound Section for ultrasound screening in uncomplicated pregnancy — 2020 [2020]
• Republic of Korea
  • Obstetrics & Gynecology Science
    • 2014 First-trimester ultrasound forum from the Korean Society of Ultrasound in Obstetrics and Gynecology [2015]
• Rwanda
  • BMC Health Services Research
    • Maternal health care professionals’ experiences and views on the use of obstetric ultrasound in Rwanda: A cross-sectional study [2021]
• Sweden
  • Acta Obstetricia et Gynecologica Scandinavica
    • Accuracy and precision of sonographic fetal weight estimation in Sweden [2023]
  • Reproductive Health
    • Adherence to Swedish national pregnancy dating guidelines and management of discrepancies between pregnancy dating methods: a survey study [2019]
• Taiwan
  • Taiwanese Journal of Obstetrics and Gynecology
    • A novel reference chart and growth standard of fetal biometry in the Taiwanese population [2022]
    • A survey of current use, dilemma and outlook of antenatal ultrasonography in Taiwan [2019]
• United Kingdom
  • Health Technology Assessment
    • Universal late pregnancy ultrasound screening to predict adverse outcomes in nulliparous women: a systematic review and cost-effectiveness analysis [2021]
  • National Institute for Health and Care Excellence
    • Routine third trimester ultrasound for fetal growth [2021]
  • Office for Health Improvement and Disparities
    • 20-week screening scan pathway requirements specification
  • Public Health England
    • Early pregnancy scan: brief description
  • Reproductive Sciences
    • Trends in Termination of Pregnancy for Foetal Urological Abnormalities in England and Wales: a Cross-Sectional Study [2023]
  • Royal College of Obstetricians and Gynaecologists
    • Ultrasound from Conception to 10+0 Weeks of Gestation [2015]
• United States
  • American College of Radiology
    • Second and Third Trimester Screening for Fetal Anomaly
    • Nuchal Translucency Evaluation at 11 to 14 Weeks Gestational Age
    • Antenatal Hydronephrosis-Infant
    • ACR–ACOG–AIUM–SMFM–SRU Practice Parameter for the Performance of Standard Diagnostic Obstetrical Ultrasound
  • American Institute of Ultrasound in Medicine
    • AIUM Practice Parameter for the Performance of Detailed Diagnostic Obstetric Ultrasound Examinations Between 12 Weeks 0 Days and 13 Weeks 6 Days [2020]
    • AIUM Practice Parameter for the Performance of Fetal Echocardiography [2019]
    • AIUM Practice Parameter for the Performance of Detailed Second- and Third-Trimester Diagnostic Obstetric Ultrasound Examinations [2019]
    • AIUM–ACR–ACOG–SMFM–SRU Practice Parameter for the Performance of Standard Diagnostic Obstetric Ultrasound Examination [2018]
    • AIUM Practice Parameter for the Performance of Limited Obstetric Ultrasound Examinations by Advanced Clinical Providers [2018]
  • National Institute of Child Health and Human Development
    • Unified standard for fetal growth: the Eunice Kennedy Shriver National Institute of Child Health and Human Development Fetal Growth Studies [2022]
    • Estimating Gestational Age From Ultrasound Fetal Biometrics [2017]
  • Society for Maternal-Fetal Medicine
    • Executive summary: Workshop on developing an optimal maternal-fetal medicine ultrasound practice, February 7–8, 2023, cosponsored by the Society for Maternal-Fetal Medicine, American College of Obstetricians and Gynecologists, American Institute of Ultrasound in Medicine, American Registry for Diagnostic Medical Sonography, International Society of Ultrasound in Obstetrics and Gynecology, Gottesfeld-Hohler Memorial Foundation, and Perinatal Quality Foundation [2023]
    • Society for Maternal-Fetal Medicine Special Statement: Best-practice recommendations for ultrasound network connectivity [2022]
    • Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester [2021]
    • SMFM Fetal Anomalies Consult Series #4: Genitourinary anomalies [2021]
    • Vein of Galen Aneurysmal Malformation [2020]
    • SMFM Special Statement: Reducing the risk of transmitting infection by transvaginal ultrasound examination [2020]
    • SMFM Fetal Anomalies Consult Series #3: Intracranial Anomalies [2020]
    • Posterior Encephalocele [2020]
    • Intracranial Hemorrhage [2020]
    • Intracranial Cysts [2020]
    • Holoprosencephaly [2020]
    • Fetal Ventriculomegaly [2020]
    • Exencephaly-anencephaly Sequence [2020]
    • Dandy-Walker Malformation [2020]
    • Agenesis of the Corpus Callosum [2020]
    • Absent Cavum Septi Pellucidi [2020]
    • SMFM Fetal Anomalies Consult Series #2: Extremities [2019]
    • SMFM Fetal Anomalies Consult Series #1: Facial Anomalies [2019]
    • Radial Ray Malformation [2019]
    • Polydactyly [2019]
    • Paramedian Orofacial Cleft [2019]
    • Micrognathia [2019]
    • Median Facial Cleft [2019]
    • Hypotelorism [2019]
    • Hypertelorism [2019]
    • Congenital talipes equinovarus (clubfoot) [2019]
    • Arthrogryposis [2019]
    • Anophthalmia and Microphthalmia [2019]
    • Amniotic Band Sequence [2019]
    • Absent nasal bone [2019]
  • Society of Radiologists in Ultrasound
    • Normal and Abnormal US Findings in Early First-Trimester Pregnancy: Review of the Society of Radiologists in Ultrasound 2012 Consensus Panel Recommendations [2015]
  • Ultrasound in Obstetrics & Gynecology
    • Detection of fetal cardiac anomalies: cost-effectiveness of increased number of cardiac views [2020]
• WHO
  • World Health Organization
    • Maternal and fetal assessment update: imaging ultrasound before 24 weeks of pregnancy [2022]
    • Imaging ultrasound before 24 weeks of pregnancy: 2022 update to the WHO antenatal care recommendations for a positive pregnancy experience [2022]
    • WHO recommendations on antenatal care for a positive pregnancy experience: ultrasound examination [2018]
    • Fetal Growth Calculator
• {Related topics}
  • Topic
    • Prenatal screening and diagnosis