Prenatal screening and diagnosis

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Prenatal screening and diagnosis

Australia

• Australian Family Physician
  • Decreased fetal movements: a practical approach in a primary care setting [2014]

• Midwifery
  • Surveillance of decreased fetal movements: A critical appraisal of Australian antenatal guidelines [2025]

• NSW Health
  • Prenatal Screening and Diagnostic Testing for Fetal Chromosomal Abnormality
  • Care Pathway for Women Concerned About Fetal Movements

• Queensland Health
  • Fetal movements

• Royal Australian College of General Practitioners
  • Prenatal testing

• SA Health
  • Low PAPP-A and Normal Chromosomes
  • Decreased 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
  • Screening and diagnosis of fetal structural anomalies and chromosome conditions [2024]

Austria, Germany, Switzerland

• Ultraschall in der Medizin
  • Fetal Assessment in Pregnancy (Indication and Methodology for Fetal Monitoring in a low-risk Population). Guideline of the DGGG, DEGUM, OEGGG and SGGG (S3-Level, AWMF Registry No. 015/089, February 2023) [2024]
  • DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures [2019]

Brazil

• Revista da Escola de Enfermagem da USP
  • Prenatal tests in Brazil: prevalence and associated factors according to the Brazilian National Health Survey [2025]

Canada

• British Columbia Medical Journal
  • Prenatal screening options in British Columbia [2018]

• Canada's Drug Agency
  • 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 [2022]

• 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]

• Ontario Health
  • Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment [2023]

• Perinatal Services BC
  • Prenatal Screening for Down Syndrome, Trisomy 18, and Open Neural Tube Defects [2023]
  • Prenatal Genetic Screening and Investigations

• Society of Obstetricians and Gynaecologists of Canada
  • Prenatal Screening for Fetal Chromosomal Anomalies [2024]
  • Antenatal Fetal Health Surveillance [2023]
  • Fetal Health Surveillance: Antepartum Consensus Guideline [2018]
  • 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]

Denmark

• Acta Obstetricia et Gynecologica Scandinavica
  • Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017 [2024]

Europe

• EUROCAT
  • Prenatal Screening Policies in Europe [2010]

• European Board and College of Obstetrics and Gynaecology
  • Current status and future of genomics in fetal and maternal medicine: A scientific review commissioned by European Board and College of Obstetrics and Gynaecology (EBCOG) [2024]

• 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 for Magnetic Resonance in Medicine and Biology
  • ESR Essentials: advanced MR safety in vulnerable patients-practice recommendations by the European Society for Magnetic Resonance in Medicine and Biology [2025]

• 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]

France

• Prenatal Diagnosis
  • Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group [2025]

Germany

• RöFo
  • Prenatal imaging - role of fetal MRI [2025]

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]

International

• Best Practice & Research Clinical Obstetrics & Gynaecology
  • Fetal imaging, phenotyping, and genomic testing in modern prenatal diagnosis [2025]

• Brain
  • Prenatal assessment of brain malformations on neuroimaging: an expert panel review [2024]

• Intergrowth-21st
  • The INTERGROWTH-21st fetal growth standards: toward the global integration of pregnancy and pediatric care [2018]

• International Society for Prenatal Diagnosis
  • International Society for Prenatal Diagnosis 2024 Debate 3-Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies [2025]
  • International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis [2022]
  • 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]

• Médecins Sans Frontières
  • Diagnosing and monitoring pregnancy [2019]

• PLoS ONE
  • A systematic scoping review to identify the design and assess the performance of devices for antenatal continuous fetal monitoring [2020]

• Women's Health
  • Exploring measurement tools used to assess knowledge, attitudes, and perceptions of pregnant women toward prenatal screening: A systematic review [2024]

Ireland

• Ireland's Health Services
  • National Clinical Practice Guideline: Reduced Fetal Movements [2024]

Italy

• European Journal of Obstetrics & Gynecology and Reproductive Biology
  • The Italian guidelines on non-invasive and invasive prenatal diagnosis: Executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology (SIGO) [2024]

• Società Italiana di Genetica Umana
  • Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies [2022]
  • Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 [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]

Spain

• Advances in Laboratory Medicine
  • Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations [2020]

Sri Lanka

• Sri Lanka College of Obstetricians & Gynaecologists
  • Managing Reduced Fetal Movements [2023]

Sweden

• BMC Pregnancy and Childbirth
  • Prenatal diagnosis in Sweden 2011 to 2013—a register-based study [2016]

Switzerland

• Swiss Medical Weekly
  • Non-invasive prenatal testing is not a substitute for first trimester ultrasound screening [2025]

Thailand

• PLoS ONE
  • Economic evaluation of prenatal screening for fetal aneuploidies in Thailand [2023]

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]

• BJOG: An International Journal of Obstetrics & Gynaecology
  • Risk Factors for Adverse Pregnancy Outcomes in Reduced Fetal Movement: An IPD Meta-Analysis [2025]

• 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]

• National Institute for Health and Care Excellence
  • Monitoring fetal growth [2021]
  • Fetal movement monitoring [2021]

• NHS England
  • Reduced Fetal Movements (RFM) in Pregnancy Guideline [2021]
  • Rapid exome sequencing service guidance: Fetal anomalies testing [2021]
  • Prenatal diagnosis
  • NHS fetal anomaly screening programme (FASP)
  • Fetal anomaly screening: programme handbook
  • Fetal anomaly screening: care pathways
  • Fetal anomaly screening programme: standards
  • Down’s syndrome, Edwards’ syndrome and Patau’s syndrome screening pathway requirements
  • Antenatal and newborn screening: quality assurance procedures

• NHS Scotland
  • Pregnancy screening standards for chromosomal and health conditions

• Public Health England
  • Fetal anomaly screening: providing services
  • Down’s syndrome, Edwards’ syndrome and Patau’s syndrome screening: chance calculation software requirements
  • 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
  • Patau's syndrome
  • Fetal presentation in pregnancy
  • Fetal anomalies
  • Edwards' syndrome

• Ultrasound in Obstetrics & Gynecology
  • Performance of international phenotypic criteria for prenatal exome sequencing: systematic review and comparative diagnostic accuracy study using historical individual participant data [2025]

United Kingdom, United States

• BJOG: An International Journal of Obstetrics & Gynaecology
  • Are People From Black Communities Proportionately Represented in UK and US Studies Examining Views on Screening and Diagnostic Genetic Testing in Pregnancy? A Scoping Review [2025]

United States

• American College of Medical Genetics and Genomics
  • Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG) [2024]
  • Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) [2023]
  • 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 Family Physician
  • Fetal Aneuploidy: Screening and Diagnostic Testing [2020]

• American Journal of Perinatology
  • Prenatal Screening and Diagnosis: Time for a Paradigm Shift [2025]

• Association of Women's Health, Obstetric and Neonatal Nurses
  • Decreased Fetal Movement: AWHONN Practice Brief #20 [2024]

• National Society of Genetic Counselors
  • Genetic counseling for congenital heart disease - Practice resource of the National Society of Genetic Counselors [2022]
  • NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy [2013]

• Pregnancy
  • An overview of current prenatal genetic screening and diagnosis guidelines [2025]

• 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]

• StatPearls
  • Prenatal Genetic Screening

{Related topics}

• Topic
  • Rh isoimmunization, blood group incompatibility
  • Prenatal ultrasound
  • Preimplantation diagnosis
  • Obstetrics, perinatology
  • Noninvasive prenatal testing
  • Neonatal screening
  • Fragile X syndrome: prenatal screening and diagnosis
  • Fetal therapy
  • Ethics, jurisprudence: sexual and reproductive health and rights
  • Down syndrome: prenatal screening and diagnosis
  • Cystic fibrosis: prenatal screening and diagnosis
  • Amniocentesis, chorionic villus sampling