Prenatal screening and diagnosis

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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]

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 Agency for Drugs and Technologies in Health
  • Obstetrical Ultrasound During Pregnancy [2021]

• Canadian Association of Radiologists
  • Canadian Association of Radiologists Obstetrics and Gynecology Diagnostic Imaging Referral Guideline [2024]

• 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]

China

• World Journal of Pediatrics
  • Comparison of updated birth weight, length and head circumference charts by gestational age in China with the INTERGROWTH-21st NCSS charts: a population-based study [2023]

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

• U.S. Agency for International Development
  • 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]

• European Association of Perinatal Medicine
  • European association of perinatal medicine (EAPM) position statement: Screening, diagnosis and management of congenital anomalies of the umbilical cord [2024]

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]

Germany

• Ultraschall in der Medizin
  • The role of ultrasound in first-trimester screening after the introduction of NIPT as a service of public health insurance - a consensus statement of the Fetal Medicine Foundation (FMF) Germany [2023]

High-income countries

• Journal of Psychosomatic Obstetrics & Gynecology
  • Impact of first-trimester anomaly scan on health-related quality of life and healthcare costs: a scoping review [2024]

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: performance of third-trimester obstetric ultrasound scan [2024]
  • ISUOG Practice Guidelines (updated): performance of 11-14-week ultrasound scan [2023]
  • ISUOG Practice Guidelines (updated): fetal cardiac screening [2023]
  • ISUOG Practice Guidelines (updated): performance of the routine mid-trimester fetal ultrasound scan [2022]
  • 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]

• World Association of Perinatal Medicine
  • Clinical Practice Guidelines and Recommendations by the World Association of Perinatal Medicine and Perinatal Medicine Foundation: Reporting Suspected Findings from Fetal Central Nervous System Examination [2024]
  • First trimester examination of fetal anatomy: clinical practice guideline by the World Association of Perinatal Medicine (WAPM) and the Perinatal Medicine Foundation (PMF) [2022]
  • WAPM-World Association of Perinatal Medicine Practice Guidelines: Fetal central nervous system examination [2021]

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]

Malta

• Journal of the Turkish German Gynecological Association
  • The accuracy of antenatal ultrasound screening in Malta: a population-based study [2022]

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]

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]

Sub-Saharan Africa

• BMC Medical Education
  • The training of midwives to perform obstetric ultrasound scan in Africa for task shifting and extension of scope of practice: a scoping review [2023]

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 Standard Diagnostic Obstetric Ultrasound [2024]
  • AIUM Official Statement: Conclusions Regarding Epidemiology for Obstetric Ultrasound [2023]
  • AIUM Practice Parameter for the Performance of Detailed Diagnostic Obstetric Ultrasound Examinations Between 12 Weeks 0 Days and 13 Weeks 6 Days [2021]
  • AIUM Practice Parameter for the Performance of Fetal Echocardiography [2020]
  • 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 Examinations [2018]
  • AIUM Practice Parameter for the Performance of Limited Obstetric Ultrasound Examinations by Advanced Clinical Providers [2018]

• American Society of Echocardiography
  • Guidelines and Recommendations for Performance of the Fetal Echocardiogram: An Update from the American Society of Echocardiography [2023]

• 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
  • A Lexicon for First-Trimester US: Society of Radiologists in Ultrasound Consensus Conference Recommendations [2024]

• 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

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  • Prenatal screening and diagnosis