Connecting the circle from surveillance to epidemiology to public health practice.

Abstract

Each year the National Birth Defects Prevention Network (NBDPN) in collaboration with the U.S. National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention provides an annual report with materials to advance the field of birth defects surveillance, epidemiology, and public health practice. The reports comply with provisions of the Birth Defects Prevention Act of 1998 and its subsequent reauthorizations; these publications, first in Teratology, then in Birth Defects Research, Part A, and now in Birth Defects Research, provide researchers and public health professionals with access to an important source of population-based data. The 2019 report includes eight original articles, a review and commentary on the value and challenges of genome-wide association studies (GWAS) of structural birth defects, including an up-to-date summary of birth defects GWAS research, and a data brief examining the prevalence of abdominal wall defects (focusing on gastroschisis and omphalocele using data pooled from population-based surveillance programs throughout the United States). The brief report also includes supplemental materials: recent prevalence data on major birth defects from 42 population-based programs across the United States and a directory of these programs. The NBDPN continues its commitment to the primary prevention of birth defects and improvement of outcomes for children and families living with birth defects through the use of birth defects surveillance data for research, program planning, and program evaluation. This issue begins with a review and commentary by Lupo et al. examining the history, recent experience and future potential of GWAS for birth defects etiology. Of the eight contributed papers, three focus on coding and classification issues, two are descriptive epidemiology studies, two present the findings of etiologic research, and one uses birth defects registry data in concert with program data to evaluate program participation among potentially eligible preterm infants born with birth defects. Comparing classification of the severity of specific birth defects using a national inpatient database and an active statewide registry is the focus of an exploratory study by Matas et al. Benjamin et al. describe an approach to analyzing co-occurrence of birth defects in registries, which may be of some utility to surveillance programs in the United States and elsewhere. The nationwide shift from ICD-9-CM to ICD-10-CM for reporting diagnosis and procedure codes in hospital records will affect prevalence reports for many birth defects surveillance programs. Salemi et al. examine a national database of newborn discharges to determine the potential effects of this transition on prevalence estimates for common birth defects, and provide a report on their findings. Le et al. examine patterns of birth defects prevalence among two race/ethnic subgroups often overlooked in state-level analyses using data from the Texas Birth Defects Registry, the largest birth defects surveillance program in the United States. For the period 1999–2015, the prevalence of birth defects among infants born to non-Hispanic Asian/Pacific Islander and American Indians/Alaska Native mothers was compared to the prevalence among non-Hispanic white women, revealing several interesting patterns worthy of further investigation. Another paper using data from the Texas Birth Defects Registry examines the association between change in maternal prepregnancy body mass index between the previous and the index pregnancy and risk for spina bifida (Benjamin et al.). The findings, while not conclusive, suggest that higher BMI in the index pregnancy may increase risk for spina bifida. Two papers utilize additional data linked to birth defects registry records. Ramakrishnan et al. linked Florida birth certificates for cases and controls to ambient air pollution data to examine the association between cadmium levels at the maternal residence during critical windows of development and risk for congenital diaphragmatic hernia, as well as potential effect modification from maternal smoking. Forestieri et al. linked North Carolina Birth Defects Registry data to records from a statewide early intervention program for infants and toddlers to examine patterns of referral and provide useful information to the program concerning its reach. Mai et al. provide the most current national prevalence estimates for major birth defects in the United States during 2010–2014, pooling data from 14 active case-finding programs to create the prevalence estimates and comparing estimates for programs using different case-ascertainment methodologies. The issue concludes with a data brief by Stallings et al. examining demographic factors associated with abdominal wall defects, focusing on gastroschisis and omphalocele, using pooled data from 30 states. Materials supplementing the data brief include a directory of population-based birth defects surveillance programs in the United States, along with data tables for 42 programs, covering the surveillance period 2012–2016. The articles included in this issue of Birth Defects Research were selected from those submitted in response to a call for manuscripts distributed to all state birth defect surveillance programs, NBDPN members, the birth defects surveillance list service, and posted on the NBDPN website (http://www.nbdpn.org). Each of the articles included in this issue underwent both editorial and formal blinded peer review. The review process was facilitated by the use of the online ScholarOne peer-review management system provided by Wiley for the Birth Defects Research editors. As with many collaborative enterprises, dedicated individuals too numerous to mention contributed their time and effort to ensure the quality of the NBDPN annual report. These include the many peer reviewers of these manuscripts and the authors of all the submitted manuscripts. We also thank the members of the NBDPN Data and Publications and Communications Committees, as well as Jennifer Isenburg, Erin Stallings, and Cara Mai at the National Center on Birth Defects and Developmental Disabilities. We thank the Birth Defects Research editors, especially Michel Vekemans and Christina Chambers for their assistance with the submission and publication of these manuscripts. We also would like to thank the Division of Birth Defects and Infant Disorders at the National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, for its support of the NBDPN.