Screening Methods for Congenital Anomalies in Low and Lower-Middle Income Countries: A Systematic Review


      • Surgically correctable congenital anomalies represent significant morbidity and mortality in children from low-and lower-middle-income countries. Pre- and post-natal screening methods can help in decreasing this burden.
      • The most used methods include physician clinical examination, pulse oximetry and fetal ultrasound. The most feasible screening method was a birth defect picture toolkit.



      Surgically correctable congenital anomalies are responsible for a significant burden of morbidity and mortality in children from low-and lower-middle-income countries (LMICs). Early identification through fetal and neonatal screening is critical to reducing death and disability. This study aims to identify feasible screening methods for surgically correctable congenital anomalies in LMICs.


      A systematic search looking at screening for congenital anomalies in LMIC was conducted in seven databases from 2000 until May 25, 2020, with no language restriction. All articles discussing screening methods for surgically correctable congenital anomalies in LMICs were included. Articles were screened by two independent contributors using Rayyan software, with a third contributor resolving conflicts. Feasibility of the screening method and its risk of bias were assessed using the MINORS scale.


      Of 3473 articles, 24 were included in the full-text review. Nine screening methods (three prenatal and six postnatal) were identified - the most frequently utilized being physician clinical examination (45.8%), pulse oximetry (33.3%) and fetal ultrasound(20.8%). The use of a birth defect picture toolkit was the most feasible screening method. The risk of bias scale yielded an average of 11.9 points, which corresponds to a moderate level of bias.


      Despite clear benefits, prenatal and neonatal screening methods are infrequently used in LMICs to identify surgically correctable congenital anomalies in neonates, likely due to financial, material, and human resource constraints. Further research into the development of low-cost feasible methods is needed within these settings.

      PROSPERO registration number


      Type of Study

      Systematic review.

      Level of Evidence



      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to Journal of Pediatric Surgery
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Wang H.
        • Bhutta Z.A.
        • Coates M.M.
        • Coggeshall M.
        • Dandona L.
        • Diallo K.
        • et al.
        Global, regional, national, and selected subnational levels of stillbirths, neonatal, infant, and under-5 mortality, 1980–2015: a systematic analysis for the Global Burden of Disease Study 2015.
        The Lancet. 2016 Oct 8; 388: 1725-1774
        • Sitkin N.A.
        • Ozgediz D.
        • Donkor P.
        • Farmer D.L.
        Congenital anomalies in low- and middle-income countries: the unborn child of global surgery.
        World J Surg. 2015 Jan; 39: 36-40
      1. Integration of traditional birth attendants (TBAs) into the health sector for improving maternal health in Nigeria: a systematic review.
        Sub-Sahar Afr J Med. 2019 Jan 4; 6 (U SH, E AS): 55
      2. World Health Organization, United Nations Population Fund, United Nations Children’s Fund (UNICEF). Traditional birth attendants : a joint WHO/UNFPA/UNICEF statement [Internet]. World Health Organization; 1992. Available from:

        • Okafor II,
        • Arinze-Onyia S.U.
        • Ohayi S.
        • Onyekpa J.I.
        • Ugwu E.O.
        Audit of Childbirth Emergency Referrals by Trained Traditional Birth Attendants in Enugu, Southeast, Nigeria.
        Ann Med Health Sci Res. 2015 Aug; 5: 305-310
      3. PRISMA. PRISMA checklist [Internet]. [cited 2022 Nov 12]. Available from:

      4. Rayyan. Rayyan [Internet]. [Internet]. Available from: Available from:

        • Proctor E.
        • Silmere H.
        • Raghavan R.
        • Hovmand P.
        • Aarons G.
        • Bunger A.
        • et al.
        Outcomes for implementation research: conceptual distinctions, measurement challenges, and research agenda.
        Adm Policy Ment Health. 2011 Mar; 38: 65-76
        • Slim K.
        • Nini E.
        • Forestier D.
        • Kwiatkowski F.
        • Panis Y.
        • Chipponi J.
        Methodological index for non-randomized studies (minors): development and validation of a new instrument.
        ANZ J Surg. 2003 Sep; 73: 712-716
        • Mosayebi Z.
        • Movahedian A.H.
        • Amini E.
        • Akbari Asbagh P.
        • GhorbanSabagh V.
        • Shariat M.
        • et al.
        Evaluation of Pulse Oximetry in the Early Diagnosis of Cardiac and NonCardiac Diseases in Healthy Newborns.
        Iran J Neonatol IJN. 2020 Jan 1; 11: 43-50
        • Vijayaraghavan A.
        • Sudhakar A.
        • Sundaram K.R.
        • Kumar R.K.
        • Vaidyanathan B.
        Prenatal diagnosis and planned peri-partum care as a strategy to improve pre-operative status in neonates with critical CHDs in low-resource settings: a prospective study.
        Cardiol Young. 2019 Dec; 29: 1481-1488
        • Tekleab A.M.
        • Sewnet Y.C.
        Role of pulse oximetry in detecting critical congenital heart disease among newborns delivered at a high altitude setting in Ethiopia.
        Pediatr Health Med Ther. 2019; 10: 83-88
        • Rakha S.
        • El Marsafawy H.
        Sensitivity, specificity, and accuracy of fetal echocardiography for high-risk pregnancies in a tertiary center in Egypt.
        Arch Pediatr Organe Off Soc Francaise Pediatr. 2019 Sep; 26: 337-341
        • Mumpe-Mwanja D.
        • Barlow-Mosha L.
        • Williamson D.
        • Valencia D.
        • Serunjogi R.
        • Kakande A.
        • et al.
        A hospital-based birth defects surveillance system in Kampala, Uganda.
        BMC Pregnancy Childbirth. 2019 Oct 22; 19: 372
        • Mohsin M.
        • Humayun K.N.
        • Atiq M.
        Clinical Screening for Congenital Heart Disease in Newborns at a Tertiary Care Hospital of a Developing Country.
        Cureus. 2019 Jun 3; (Internet) ([cited 2022 Nov 12];11(6). Available from)
        • Mohan Akshaya
        • Rangasami Rajeswaran
        • Chandrasekharan Anupama
        • Suresh Indrani
        • Seshadri Suresh
        • Andrew Chitra
        Role of MRI in the Diagnosis of Fetal Anomalies at 18–20 Weeks Gestational Age.
        J South Asian Fed Obstet Gynaecol. 2019; 11: 292-296
        • Kamla I.
        • Kamgaing N.
        • Billong S.
        • Tochie J.N.
        • Tolefac P.
        • de Paul Djientcheu V.
        Antenatal and postnatal diagnoses of visible congenital malformations in a sub-Saharan African setting: a prospective multicenter cohort study.
        BMC Pediatr. 2019 Nov 25; 19: 457
        • Onyambu C.K.
        • Tharamba N.M.
        Screening for congenital fetal anomalies in low risk pregnancy: the Kenyatta National Hospital experience.
        BMC Pregnancy Childbirth. 2018 May 23; 18: 180
        • Ekwochi U.
        • Asinobi I.N.
        • Osuorah D.C.I.
        • Ndu I.K.
        • Ifediora C.
        • Amadi O.F.
        • et al.
        Pattern of Congenital Anomalies in Newborn: A 4-Year Surveillance of Newborns Delivered in a Tertiary Healthcare Facility in the South-East Nigeria.
        J Trop Pediatr. 2018 Aug 1; 64: 304-311
        • Akinmoladun J.A.
        • Ogbole G.I.
        • O Oluwasola T.A.
        Pattern and outcome of prenatally diagnosed major congenital anomalies at a Nigerian Tertiary Hospital.
        Niger J Clin Pract. 2018 May; 21: 560-565
        • Shahzad M.
        • Waqar T.
        • Irfan Waheed K.A.
        • Gul R.
        • Fatima S.T.
        Pulse oximetry as a screening tool for critical congenital heart defects in newborns.
        JPMA J Pak Med Assoc. 2017 Aug; 67: 1220-1223
        • Sharma S.
        • Kaur N.
        • Kaur K.
        • Pawar N.C.
        Role of Echocardiography in Prenatal Screening of Congenital Heart Diseases and its Correlation with Postnatal Outcome.
        J Clin Diagn Res JCDR. 2017 Apr; 11: TC12-T14
        • Nguefack C.
        • Djomo A.N.
        • Brulet C.
        • Barla E.
        • Priso E.B.
        Prenatal Diagnosis of Congenital Malformations in Douala General Hospital.
        Open J Obstet Gynecol. 2015 Dec 8; 5: 839-848
        • Shah F.
        • Chatterjee R.
        • Patel P.C.
        • Kunkulol R.R.
        Early detection of critical congenital heart disease in newborns using pulse oximetry screening.
        Int J Med Res Health Sci. 2015; 4: 78
        • Emdin C.A.
        • Mir F.
        • Sultana S.
        • Kazi A.
        • Zaidi A.K.M.
        • Dimitris M.C.
        • et al.
        Utility and feasibility of integrating pulse oximetry into the routine assessment of young infants at primary care clinics in Karachi, Pakistan: a cross-sectional study.
        BMC Pediatr. 2015 Sep 30; 15: 141
        • Mathur N.B.
        • Gupta A.
        • Kurien S.
        Pulse Oximetry Screening to Detect Cyanotic Congenital Heart Disease in Sick Neonates in a Neonatal Intensive Care Unit.
        Indian Pediatr. 2015 Sep; 52: 769-772
        • Hoang T.
        • Nguyen D.T.
        • Nguyen P.V.N.
        • Tran D.A.
        • Gillerot Y.
        • Reding R.
        • et al.
        External birth defects in southern Vietnam: a population-based study at the grassroots level of health care in Binh Thuan province.
        BMC Pediatr. 2013 Apr 30; 13: 67
        • Agunloye A.M.
        • Ayede A.I.
        • Omokhodion S.I.
        The role of routine post-natal abdominal ultrasound for newborns in a resource-poor setting: a longitudinal study.
        BMC Pediatr. 2011 Jul 12; 11: 64
        • Vaidyanathan B.
        • Sathish G.
        • Mohanan S.T.
        • Sundaram K.R.
        • Warrier K.K.R.
        • Kumar R.K.
        Clinical screening for Congenital heart disease at birth: a prospective study in a community hospital in Kerala.
        Indian Pediatr. 2011 Jan; 48: 25-30
        • Eshete M.
        • Gravenm P.E.
        • Topstad T.
        • Befikadu S.
        The incidence of cleft lip and palate in Addis Ababa, Ethiopia.
        Ethiop Med J. 2011 Jan; 49: 1-5
        • Saha A.
        • Batra P.
        • Chaturvedi P.
        • Mehera B.
        • Tayade A.
        Antenatal detection of renal malformations.
        Indian Pediatr. 2009 Apr; 46: 346-348
        • Bakare T.I.B.
        • Sowande O.A.
        • Adejuyigbe O.O.
        • Chinda J.Y.
        • Usang U.E.
        Epidemiology of external birth defects in neonates in Southwestern Nigeria.
        Afr J Paediatr Surg AJPS. 2009 Jun; 6: 28-30
        • Patel Z.M.
        • Adhia R.A.
        Birth defects surveillance study.
        Indian J Pediatr. 2005 Jun; 72: 489-491
        • Page M.J.
        • McKenzie J.E.
        • Bossuyt P.M.
        • Boutron I.
        • Hoffmann T.C.
        • Mulrow C.D.
        • et al.
        The PRISMA 2020 statement: an updated guideline for reporting systematic reviews.
        BMJ. 2021 Mar 29; 372: n71
        • Cook D.A.
        • Ellaway R.H.
        Evaluating technology-enhanced learning: A comprehensive framework.
        Med Teach. 2015; 37: 961-970