Validity of diagnosis and procedure codes for identifying neural tube defects in infants

Pharmacoepidemiol Drug Saf. 2020 Nov;29(11):1489-1493. doi: 10.1002/pds.5128. Epub 2020 Sep 15.


Purpose: The use of validated criteria to identify birth defects in electronic healthcare databases can avoid the cost and time-intensive efforts required to conduct chart reviews to confirm outcomes. This study evaluated the validity of various case-finding methodologies to identify neural tube defects (NTDs) in infants using an electronic healthcare database.

Methods: This analysis used data generated from a study whose primary aim was to evaluate the association between first-trimester maternal prescription opioid use and NTDs. The study was conducted within the Medication Exposure in Pregnancy Risk Evaluation Program. A broad approach was used to identify potential NTDs including diagnosis and procedure codes from inpatient and outpatient settings, death certificates and birth defect flags in birth certificates. Potential NTD cases were chart abstracted and confirmed by clinical experts. Positive predictive values (PPVs) and 95% confidence intervals (95% CI) are reported.

Results: The cohort included 113 168 singleton live-born infants: 55 960 infants with opioid exposure in pregnancy and 57 208 infants unexposed in pregnancy. Seventy-three potential NTD cases were available for the validation analysis. The overall PPV was 41% using all diagnosis and procedure codes plus birth certificates. Restricting approaches to codes recorded in the infants' medical record or to birth certificate flags increased the PPVs (72% and 80%, respectively) but missed a substantial proportion of confirmed NTDs.

Conclusions: Codes in electronic healthcare data did not accurately identify confirmed NTDs. These results indicate that chart review with adjudication of outcomes is important when conducting observational studies of NTDs using electronic healthcare data.

Keywords: diagnosis codes; neural tube defects; pharmacoepidemiology; positive predictive value; procedure codes; validation.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cohort Studies
  • Databases, Factual
  • Female
  • Humans
  • Infant
  • Medical Records
  • Neural Tube Defects* / diagnosis
  • Neural Tube Defects* / epidemiology
  • Predictive Value of Tests
  • Pregnancy