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Background: The New York State Birth Defects Registry (BDR) has passive and active components. As part of statewide passive ascertainment, the BDR receives reports of International Classification of Diseases, Tenth Revision (ICD-10) codes and descriptive narratives on a wide range of birth defects. The BDR conducts enhanced active surveillance for selected birth defects in 14 counties, which includes medical record abstraction and clinician review. We sought to quantify agreement between the two surveillance approaches., Methods: The analysis included live-born infants born with one of the 16 birth defects in 2018-2021 in the active surveillance counties (n = 1069 infants). We calculated positive predictive values (PPV) and 95% confidence intervals for each defect, defined as the percentage of cases confirmed in active surveillance among those in passive surveillance. Additionally, we calculated the percentage with each birth defect missed by passive surveillance., Results: The PPV varied greatly by birth defect. The PPV was >90% for gastroschisis and cleft lip, but <70% for spina bifida, diaphragmatic hernia, truncus arteriosus, tricuspid atresia, hypoplastic left heart syndrome, coarctation of the aorta, and pulmonary atresia. The percentage missed by passive surveillance ranged from 2% for tetralogy of Fallot to 39% for tricuspid atresia., Conclusions: Active surveillance is an important strategy for ruling out false positive case reports for certain birth defects that we assessed, but not all of them. Passive surveillance programs can use our findings to develop targeted strategies for improving data quality of specific birth defects using active surveillance methods, thus optimizing limited resources., (© 2024 Wiley Periodicals LLC.)

Background: Cerebellar hypoplasia is a rare disorder of cerebellar formation in which the cerebellum is not completely developed, smaller than it should be, or completely absent. The prevalence of cerebellar hypoplasia at birth is unknown, and little is known about epidemiological risk factors. Using data from the National Birth Defects Prevention Study (NBDPS), a population-based, case-control study, we analyzed clinical features and potential risk factors for nonsyndromic cerebellar hypoplasia., Methods: The NBDPS included pregnancies with estimated delivery dates from 1997-2011. We described clinical features of cerebellar hypoplasia cases from the study area. We explored risk factors for cerebellar hypoplasia (case characteristics, demographics, pregnancy characteristics, maternal health conditions, maternal medication use, and maternal behavioral exposures) by comparing cases to non-malformed live born control infants. We calculated crude odds ratios (ORs) and 95% confidence intervals using logistic regression models., Results: We identified 87 eligible cerebellar hypoplasia cases and 55 mothers who participated in the NBDPS. There were no differences in clinical features between interviewed and non-interviewed cases. Cerebellar hypoplasia cases were more likely than controls to be from a multiple pregnancy, be born preterm, and have low birth weight. Cerebellar hypoplasia cases were more likely to be born in or after 2005, as opposed to earlier in NBDPS. We found elevated ORs that were not statistically significant for maternal use of vasoactive medications, non-Hispanic black mothers, and mothers with a history of hypertension., Conclusions: Although unadjusted, our findings from a large, population-based study can contribute to new hypotheses regarding the etiology of cerebellar hypoplasia., (© 2018 Wiley Periodicals, Inc.)

Background: Genitourinary infections (GUIs) are common among sexually active women. Yet, little is known about the risk of birth defects associated with GUIs., Methods: Using data from the National Birth Defects Prevention Study, a multisite, population-based, case-control study, we assessed self-reported maternal GUIs in the month before through the third month of pregnancy (periconception) from 29,316 birth defect cases and 11,545 unaffected controls. We calculated odds ratios (ORs) and 95% confidence intervals to estimate the risk of 52 major structural birth defects associated with GUIs. We also calculated risk of birth defects associated with each type of GUI: urinary tract infection (UTI) and sexually transmitted infection (STI)., Results: In our analysis, 10% (n = 2,972) of case and 9% (n = 1,014) of control mothers reported a periconceptional GUI. A GUI was significantly associated with 11 of the 52 birth defects examined (ORs ranging from 1.19 to 2.26): encephalocele, cataracts, cleft lip, esophageal atresia, duodenal atresia/stenosis, small intestinal atresia/stenosis, colonic atresia/stenosis, transverse limb deficiency, conoventricular septal defect, atrioventricular septal defect, and secundum atrial septal defect. A periconceptional UTI was significantly associated with nine birth defects (ORs from 1.21 to 2.48), and periconceptional STI was significantly associated with four birth defects (ORs ranging from 1.63 to 3.72)., Conclusions: While misclassification of GUIs in our analysis is likely, our findings suggest GUIs during the periconceptional period may increase the risk for specific birth defects., (© 2018 Wiley Periodicals, Inc.)