Obstetrics, gynecology and reproductive medicine guidelines

Prenatal screening and diagnosis

Guidelines, reviews, statements, recommendations, standards

 

Amniocentesis, chorionic villi sampling

• Cochrane
  • Cochrane Library
    • Instruments for chorionic villus sampling for prenatal diagnosis
    • Different communication strategies for disclosing results of diagnostic prenatal testing
    • Analgesia for amniocentesis or chorionic villus sampling
    • Amniocentesis and chorionic villus sampling for prenatal diagnosis
• Cuba
  • MEDICC Review
    • Antenatal cytogenetic testing in Havana, Cuba [2014]
• International
  • International Society of Ultrasound in Obstetrics and Gynecology
    • ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis [2016]
• 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 [2010]
    • Amniocentesis (Consent Advice) [2006]
• United States of America
  • Association for Molecular Pathology
    • Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses [2011]
• {Related topics}
  • Guidelines
    • Prenatal screening and diagnosis

Cystic fibrosis: prenatal screening and diagnosis

• Cuba
  • MEDICC Review
    • Antenatal testing for cystic fibrosis in Cuba, 1988-2011 [2014]
• 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]
• United Kingdom
  • Prenatal Diagnosis
    • Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis [2015]
• United States of America
  • American College of Obstetricians and Gynecologists
    • Update on Carrier Screening for Cystic Fibrosis [2011]
• {Related topics}
  • Guidelines
    • Prenatal screening and diagnosis
    • Cystic fibrosis

Down syndrome: prenatal screening and diagnosis

• Canada
  • Perinatal Services BC
    • Management of Pregnancies Diagnosed with Down Syndrome [2016]
• Cochrane
  • Cochrane Library
    • Urine tests for Down's syndrome screening
    • Second trimester serum tests for Down's Syndrome screening
    • First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening
    • First trimester serum tests for Down's syndrome screening
    • First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening
• Denmark
  • 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]
• 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]
• New Zealand
  • National Screening Unit
    • Antenatal Screening for Down Syndrome and Other Conditions
• Slovenia
  • PLoS ONE
    • Impact of prenatal screening on the prevalence of Down syndrome in Slovenia [2017]
• United Kingdom
  • Public Health England
    • Twin pregnancies: second trimester screening for Down’s syndrome
  • UK National Screening Committee
    • Down's syndrome screening in pregnancy
• United States of America
  • 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

• Cochrane
  • Cochrane Library
    • Pre-conception and antenatal screening for the fragile site on the X-chromosome
• 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 [2014]
• United Kingdom
  • UK National Screening Committee
    • Fragile X syndrome screening in pregnancy
• {Related topics}
  • Guidelines
    • Prenatal screening and diagnosis

Maternal blood screening

• 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]
• China
  • Intractable & Rare Diseases Research
    • Noninvasive prenatal testing in China: Future detection of rare genetic diseases? [2014]
• Cochrane
  • Cochrane Library
    • Use of biochemical tests of placental function for improving pregnancy outcome
    • Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women
    • Biochemical tests of placental function for assessment in pregnancy
• 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
  • 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 of America
  • European Society of Human Genetics
    • Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening [2015]
• International
  • International Society of Ultrasound in Obstetrics and Gynecology
    • ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice [2014]
• Netherlands
  • Health Council of the Netherlands
    • Population Screening Act: Non-Invasive Prenatal Test (NIPT) as initial test for Down’s, Patau’s and Edwards’ syndrome [2016]
    • Population Screening Act: noninvasive prenatal test for increased risk of trisomy [2013]
    • NIPT: dynamics and ethics of prenatal screening [2013]
• Sweden
  • Swedish Council on Technology Assessment in Health Care
    • Analysis of Fetal DNA in Maternal Blood: Non-Invasive Fetal Diagnostic Tests for Blood Group and Sex Determination [2012]
• United Kingdom
  • Royal College of Obstetricians and Gynaecologists
    • Non-invasive Prenatal Testing for Chromosomal Abnormality using Maternal Plasma DNA [2014]
• United States of America
  • AJP Reports
    • Obstetrician and Gynecologist Utilization of the Noninvasive Prenatal Testing Expanded Option [2015]
  • American College of Medical Genetics and Genomics
    • 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
    • Cell-free DNA Screening for Fetal Aneuploidy [2015]
  • 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
    • 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]
• {Related topics}
  • Guidelines
    • Prenatal screening and diagnosis

Preimplantation diagnosis

• Brazil
  • Brazilian Journal of Medical and Biological Research
    • Practices and ethical concerns regarding preimplantation diagnosis. Who regulates preimplantation genetic diagnosis in Brazil? [2014]
• Cochrane
  • Cochrane Library
    • Preimplantation genetic screening for abnormal number of chromosomes (aneuploidies) in in vitro fertilisation or intracytoplasmic sperm injection
• Europe
  • European Society of Human Reproduction and Embryology
    • 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/Embryology Special Interest Group—best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS) [2011]
• Germany
  • Nationaler Ethikrat
    • Preimplantation genetic diagnosis [2011]
• New Zealand
  • Advisory Committee on Assisted Reproductive Technology
    • Guidelines on Preimplantation Genetic Diagnosis with Human Leucocyte Antigen Tissue Typing [2014]
• Saudi Arabia
  • Bioinformation
    • Preimplantation genetic diagnosis in Saudi Arabia [2013]
• Singapore
  • Bioethics Advisory Committee
    • Preimplantation Genetic Diagnosis [2003]
• United Kingdom
  • NHS England
    • Pre-implantation Genetic Diagnosis (PGD) [2014]
• {Related topics}
  • Guidelines
    • Prenatal screening and diagnosis
    • Ethics, jurisprudence: reproductive techniques
    • Assisted reproductive techniques

Prenatal screening and diagnosis

• Australia
  • Australian Family Physician
    • Non-invasive prenatal testing [2017]
    • Noninvasive prenatal testing [2014]
    • Decreased fetal movements: a practical approach in a primary care setting [2014]
    • Antenatal screening – the first and second trimester [2011]
  • Medical Services Advisory Committee
    • Obstetric MRI [2017]
• Australia, New Zealand
  • Journal of Nuclear Medicine Technology
    • Pregnancy Screening Strategies for Diagnostic Nuclear Medicine: Survey Results from Australia and New Zealand [2013]
• Canada
  • Canadian Agency for Drugs and Technologies in Health
    • Ionizing Radiation in Pregnant Women: A Review of the Safety and Guidelines [2015]
  • Canadian College of Medical Geneticists
    • 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]
  • Institute of Health Economics
    • First and second trimester prenatal screening update [2014]
  • Perinatal Services BC
    • Prenatal Screening for Down Syndrome, Trisomy 18, and Open Neural Tube Defects [2016]
• Cochrane
  • Cochrane Library
    • Symphysis-fundal height measurement in pregnancy
    • Management of reported decreased fetal movements for improving pregnancy outcomes
    • Fetal movement counting for assessment of fetal wellbeing
• Cuba
  • Journal of Community Genetics
    • SCA2 predictive testing in Cuba: challenging concepts and protocol evolution [2015]
• Europe
  • European Molecular Genetics Quality Network
    • 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]
• Hong Kong
  • Hong Kong College of Obstetricians and Gynaecologists
    • Guidelines on Prediction of High Risk Pregnancies [2011]
• 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
  • Intergrowth-21st
    • The INTERGROWTH-21st fetal growth standards: toward the global integration of pregnancy and pediatric care [2018]
  • International Society of Ultrasound in Obstetrics and Gynecology
    • 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
  • World Health Organization
    • Community genetics services : report of a WHO consultation on community genetics in low- and middle-income countries [2011]
• Netherlands
  • Health Council of the Netherlands
    • Prenatal screening [2016]
• Republic of Korea, Germany
  • Development & Reproduction
    • Legislation on Genetic Diagnosis: Comparison of South Korea and Germany [2015]
• Singapore
  • Bioethics Advisory Committee
    • Prenatal Genetic Screening and Testing [2005]
• 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]
  • National Institute for Health and Care Excellence
    • Vision Amniotic Leak Detector to assess unexplained vaginal wetness in pregnancy [2013]
    • Fetal cystoscopy for diagnosis and treatment of lower urinary outflow tract obstruction [2007]
  • Public Health England
    • NHS fetal anomaly screening programme (FASP)
    • First trimester fetal anomaly screening: trisomy 18 and trisomy 13
    • Fetal anomaly screening: providing services
    • Fetal anomaly screening: programme handbook
    • Fetal anomaly screening: care pathways
    • Fetal anomaly screening programme: standards
    • Fetal anomaly screening laboratory handbook: Down’s, Edwards’ and Patau’s syndromes
    • Antenatal and newborn screening: quality assurance procedures
    • Antenatal and newborn screening: laboratory quality assurance
  • Royal College of Obstetricians and Gynaecologists
    • Reduced Fetal Movements [2011]
  • Royal College of Pathologists
    • Recommendations for the use of chromosome microarray in pregnancy [2015]
  • Royal College of Radiologists
    • Radiation and the early fetus [2013]
    • Protection of Pregnant Patients during Diagnostic Medical Exposures to Ionising Radiation [2009]
    • Pregnancy and Work in Diagnostic Imaging Departments, Second edition [2009]
  • UK National Screening Committee
    • Trisomy 18 and Trisomy 13 Syndromes
    • Fetal anomaly screening in pregnancy
• United States of America
  • American College of Medical Genetics and Genomics
    • ACMG position statement on prenatal/ preconception expanded carrier screening [2013]
    • Screening for fetal aneuploidy and neural tube defects [2009]
    • Preconception and prenatal testing of biologic fathers for carrier status [2006]
  • American College of Obstetricians and Gynecologists
    • 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]
    • Identification and Referral of Maternal Genetic Conditions in Pregnancy [2015]
  • Prenatal Diagnosis
    • ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient? [2018]
• {Related topics}
  • Guidelines
    • Prenatal ultrasound
    • Preimplantation diagnosis
    • Obstetrics, perinatology
    • Neonatal screening
    • Maternal blood screening
    • Fragile X syndrome: prenatal screening and diagnosis
    • Ethics, jurisprudence: obstetrics, gynecology
    • Down syndrome: prenatal screening and diagnosis
    • Cystic fibrosis: prenatal screening and diagnosis
    • Amniocentesis, chorionic villi sampling

Prenatal ultrasound

• Canada
  • Canadian Association of Radiologists
    • Ultrasound - Performing Diagnostic Obstetric Ultrasound Examinations [2010]
  • Perinatal Services BC
    • Ultrasound Assessments
  • Toward Optimized Practice
    • Third Trimester Fetal Well-Being Studies: Criteria and Managing Results [2017]
    • Gestational Age by Ultrasound [2014]
• Cochrane
  • Cochrane Library
    • Utero-placental Doppler ultrasound for improving pregnancy outcome
    • Ultrasound for fetal assessment in early pregnancy
    • Routine ultrasound in late pregnancy (after 24 weeks gestation)
    • Regimens of fetal surveillance of suspected large-for-gestational-age fetuses for improving health outcomes
    • High feedback versus low feedback of prenatal ultrasound for reducing maternal anxiety and improving maternal health behaviour in pregnancy
    • Fetal and umbilical Doppler ultrasound in normal pregnancy
    • Fetal and umbilical Doppler ultrasound in high-risk pregnancies
    • Amniotic fluid index versus single deepest vertical pocket as a screening test for preventing adverse pregnancy outcome
• International
  • Intergrowth-21st
    • 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: use of Doppler ultrasonography in obstetrics [2013]
    • ISUOG Practice Guidelines: performance of first-trimester fetal ultrasound scan [2013]
    • 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
  • PLoS Medicine
    • The World Health Organization Fetal Growth Charts: A Multinational Longitudinal Study of Ultrasound Biometric Measurements and Estimated Fetal Weight [2017]
• Netherlands
  • Health Council of the Netherlands
    • Population Screening Act: first trimester scan for prenatal screening [2014]
• Nigeria
  • Pan African Medical Journal
    • Fetal nuchal translucency scan in Nigeria [2014]
• Republic of Korea
  • Obstetrics & Gynecology Science
    • 2014 First-trimester ultrasound forum from the Korean Society of Ultrasound in Obstetrics and Gynecology [2015]
• United Kingdom
  • Public Health England
    • Early pregnancy scan: brief description
  • Royal College of Obstetricians and Gynaecologists
    • Ultrasound from Conception to 10+0 Weeks of Gestation [2015]
• United States of America
  • American Academy of Family Physicians
    • Diagnostic Ultrasonography in Women's Health Care (Position Paper) [2013]
  • American College of Medical Genetics and Genomics
    • Guidelines for the prenatal diagnosis of fetal skeletal dysplasias [2009]
  • American College of Radiology
    • Assessment of Fetal Well-Being
  • American Institute of Ultrasound in Medicine
    • AIUM Practice Guideline for the Performance of Obstetric Ultrasound Examinations [2013]
    • AIUM Practice Guideline for the Performance of Fetal Echocardiography [2013]
• WHO
  • World Health Organization
    • WHO recommendations on antenatal care for a positive pregnancy experience: ultrasound examination [2018]
• {Related topics}
  • Guidelines
    • Prenatal screening and diagnosis