Algorithms to Identify Major Congenital Malformations in Routinely Collected Healthcare Data: A Systematic Review

Heyrana K, Byers HM, Stratton P. Increasing the participation of pregnant women in clinical trials. JAMA. 2018;320(20):2077–8.

Article  PubMed  Google Scholar 

Margulis AV, Anthony M, Rivero-Ferrer E. Drug safety in pregnancy: review of study approaches requested by regulatory agencies. Curr Epidemiol Rep. 2019;6(3):380–9.

Article  Google Scholar 

Roque Pereira L, Durán CE, Layton D, Poulentzas G, Lalagkas P-N, Kontogiorgis C, et al. A landscape analysis of post-marketing studies registered in the EU PAS register and ClinicalTrials.gov focusing on pregnancy outcomes or breastfeeding effects: a contribution from the ConcePTION project. Drug Saf. 2022;45(4):333–44.

Article  PubMed  PubMed Central  Google Scholar 

Huybrechts KF, Bateman BT, Hernández-Díaz S. Use of real-world evidence from healthcare utilization data to evaluate drug safety during pregnancy. Pharmacoepidemiol Drug Saf. 2019;28(7):906–22.

Article  PubMed  PubMed Central  Google Scholar 

Margulis AV, Andrews EB. The safety of medications in pregnant women: an opportunity to use database studies. Pediatrics. 2017;140(1):e20164194.

Article  PubMed  Google Scholar 

Carnahan RM. Mini-sentinel’s systematic reviews of validated methods for identifying health outcomes using administrative data: summary of findings and suggestions for future research. Pharmacoepidemiol Drug Saf. 2012;21(Suppl 1):90–9.

Article  PubMed  Google Scholar 

Carnahan RM, Moores KG. Mini-Sentinel’s systematic reviews of validated methods for identifying health outcomes using administrative and claims data: methods and lessons learned. Pharmacoepidemiol Drug Saf. 2012;21(Suppl 1):82–9.

Article  PubMed  Google Scholar 

Sever LE, editor. Guidelines for conducting birth defects surveillance. Atlanta: National Birth Defects Prevention Network; 2004. https://stacks.cdc.gov/view/cdc/13109.

Centers for Disease Control and Prevention. Division of Birth Defects and Developmental Disabilities NCBDDD. 1.4 Congenital Anomalies - Definitions. 2020 https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-1/chapter1-4.html. Accessed Sept 2024.

European Surveillance of Congenital Anomalies. EUROCAT Guide 1.5. 2023 https://eu-rd-platform.jrc.ec.europa.eu/system/files/public/eurocat/Guide_1.5_Chapter_1.pdf. Accessed Sept 2024.

Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. Syst Rev. 2021;10(1):89.

Article  PubMed  PubMed Central  Google Scholar 

Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. BMJ. 2021;372:n71.

Article  PubMed  PubMed Central  Google Scholar 

Hammad TA, Margulis AV, Ding Y, Strazzeri MM, Epperly H. Determining the predictive value of read codes to identify congenital cardiac malformations in the UK clinical practice research datalink. Pharmacoepidemiol Drug Saf. 2013;22(11):1233–8.

Article  PubMed  Google Scholar 

Kulaga S, Bérard A. Congenital malformations: agreement between diagnostic codes in an administrative database and mothers’ reports. J Obstet Gynaecol Can. 2010;32(6):549–54.

Article  PubMed  Google Scholar 

Andrade SE, Scott PE, Davis RL, Li DK, Getahun D, Cheetham TC, et al. Validity of health plan and birth certificate data for pregnancy research. Pharmacoepidemiol Drug Saf. 2013;22(1):7–15.

Article  PubMed  Google Scholar 

Kharbanda EO, Vazquez-Benitez G, DeSilva MB, Spaulding AB, Daley MF, Naleway AL, et al. Developing algorithms for identifying major structural birth defects using automated electronic health data. Pharmacoepidemiol Drug Saf. 2021;30(2):266–74.

Article  PubMed  Google Scholar 

Kharbanda EO, Vazquez-Benitez G, Romitti PA, Naleway AL, Cheetham TC, Lipkind HS, et al. Identifying birth defects in automated data sources in the Vaccine Safety Datalink. Pharmacoepidemiol Drug Saf. 2017;26(4):412–20.

Article  PubMed  PubMed Central  Google Scholar 

Bateman BT, Hernandez-Diaz S, Straub L, Zhu Y, Gray KJ, Desai RJ, et al. Association of first trimester prescription opioid use with congenital malformations in the offspring: population based cohort study. BMJ. 2021;372:n102.

Article  PubMed  PubMed Central  Google Scholar 

Palmsten K, Huybrechts KF, Kowal MK, Mogun H, Hernández-Díaz S. Validity of maternal and infant outcomes within nationwide Medicaid data. Pharmacoepidemiol Drug Saf. 2014;23(6):646–55.

Article  PubMed  PubMed Central  Google Scholar 

Blais L, Bérard A, Kettani FZ, Forget A. Validity of congenital malformation diagnostic codes recorded in Québec’s administrative databases. Pharmacoepidemiol Drug Saf. 2013;22(8):881–9.

Article  PubMed  Google Scholar 

Gianicolo EAL, Bruni A, Rosati E, Sabina S, Guarino R, Padolecchia G, et al. Congenital anomalies among live births in a polluted area. A ten-year retrospective study. BMC Pregnancy Childbirth. 2012;12:165.

Article  PubMed  PubMed Central  Google Scholar 

Agergaard P, Hebert A, Bjerre J, Sørensen KM, Olesen C, Ostergaard JR. Children diagnosed with congenital cardiac malformations at the national university departments of pediatric cardiology: positive predictive values of data in the Danish National Patient Registry. Clin Epidemiol. 2011;3:61–6.

Article  PubMed  PubMed Central  Google Scholar 

Mines D, Tennis P, Curkendall SM, Li DK, Peterson C, Andrews EB, et al. Topiramate use in pregnancy and the birth prevalence of oral clefts. Pharmacoepidemiol Drug Saf. 2014;23(10):1017–25.

Article  CAS  PubMed  Google Scholar 

Cheetham TC, Dublin S, Pocobelli G, Bobb JF, Andrade S, Hechter RC, et al. Validity of diagnosis and procedure codes for identifying neural tube defects in infants. Pharmacoepidemiol Drug Saf. 2020;29(11):1489–93.

Article  PubMed  Google Scholar 

He M, Huybrechts KF, Dejene SZ, Straub L, Bartels D, Burns S, et al. Validation of algorithms to identify adverse perinatal outcomes in the Medicaid analytic extract database. Pharmacoepidemiol Drug Saf. 2020;29(4):419–26.

Article  PubMed  Google Scholar 

Carman WJ, Accortt NA, Anthony MS, Iles J, Enger C. Pregnancy and infant outcomes including major congenital malformations among women with chronic inflammatory arthritis or psoriasis, with and without etanercept use. Pharmacoepidemiol Drug Saf. 2017;26(9):1109–18.

Article  PubMed  Google Scholar 

Chomistek AK, Phiri K, Doherty MC, Calderbank JF, Chiuve SE, McIlroy BH, et al. Development and validation of ICD-10-CM-based algorithms for date of last menstrual period, pregnancy outcomes, and infant outcomes. Drug Saf. 2023;46(2):209–22.

Article  PubMed  PubMed Central  Google Scholar 

Romano CJ, Magallon SM, Hall C, Bukowinski AT, Gumbs GR, Conlin AMS. Validation of ICD-9-CM codes for major genitourinary birth defects in Military Health System administrative data, 2006–2014. Birth Defects Res. 2024;116(1):e2265.

Article  CAS  PubMed  Google Scholar 

Phiri K, Hernandez-Diaz S, Dugan KB, Williams PL, Dudley JA, Jules A, et al. First trimester exposure to antiretroviral therapy and risk of birth defects. Pediatr Infect Dis J. 2014;33(7):741–6.

Article  PubMed  PubMed Central  Google Scholar 

Sy LS, Meyer KI, Klein NP, Chao C, Velicer C, Cheetham TC, et al. Postlicensure safety surveillance of congenital anomaly and miscarriage among pregnancies exposed to quadrivalent human papillomavirus vaccine. Hum Vaccin Immunother. 2018;14(2):412–9.

Article  PubMed  Google Scholar 

Charlton MRA, Weil JG, Cunnington MC, de Vries CS. Identifying major congenital malformations in the UK General Practice Research Database (GPRD). Drug Saf. 2010;33(9):741–50.

Article  PubMed  Google Scholar 

Huybrechts KF, Straub L, Karlsson P, Pazzagli L, Furu K, Gissler M, et al. Association of in utero antipsychotic medication exposure with risk of congenital malformations in Nordic countries and the US. JAMA Psychiat. 2023;80(2):156–66.

Article  Google Scholar 

Zhu Y, Thai TN, Hernandez-Diaz S, Bateman BT, Winterstein AG, Straub L, et al. Development and validation of algorithms to estimate live birth gestational age in Medicaid analytic extract data. Epidemiology. 2023;34(1):69–79.

Article  PubMed  Google Scholar 

Scheuerle AE, Holmes LB, Albano JD, Badalamenti V, Battino D, Covington D, et al. Levetiracetam pregnancy registry: final results and a review of the impact of registry methodology and definitions on the prevalence of major congenital malformations. Birth Defects Res. 2019;111(13):872–87.

Article  CAS  PubMed  Google Scholar 

EUROCAT Guide 1.5. Chapter 3.2. Minor anomalies and other conditions for exclusion. https://eu-rd-platform.jrc.ec.europa

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