Obstetrics, gynecology, andrology, sexual and reproductive health

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]
  • 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