Saving Babies Through Surveillance, Research, and Prevention of Birth Defects and Infant Disorders

CDC’s National Center on Birth Defects and Developmental Disabilities (NCBDDD) is working toward a day when all babies are born with the best health possible.

Birth defects are a leading cause of infant death and can cause lifelong health challenges. Birth defects and infant disorders can also be the first sign that infectious diseases, environmental factors, maternal conditions, or substance use can cause serious harm to pregnant people, infants, and children. Our unique surveillance, research, and health promotion programs provide a wealth of information used to

• Identify causes of birth defects and infant disorders;
• Find opportunities to prevent them; and
• Improve the health of those with these conditions.

Together, with state, territorial, and local health departments, academic centers, healthcare providers, and other partners, we are working toward a day when all babies are born with the best health possible and every child thrives.

Accomplishments

• Modernized systems collecting data on pregnancy and infant outcomes by
  • Conducting targeted technical assistance, using the Birth Defects Surveillance Readiness Assessment, to help birth defects surveillance programs improve their knowledge and understanding of interoperable surveillance. NCBDDD has also developed a webinar series, in collaboration with the Public Health Informatics Institute, on interoperability and data modernization for the birth defects community.
  • Developing an automated way to classify the severity of COVID-19 illness in pregnant people for CDC’s Surveillance for Emerging Threats to Mothers and Babies Network (SET-NET). This work, conducted in collaboration with the Georgia Tech Research Institute, can allow for more timely data to improve public health decisions.
• Identified opportunities to prevent birth defects and other infant disorders by
  • Studying the role of genetics and gene-environment interactions associated with the risk of birth defects. Using population-based data and DNA samples collected for CDC’s National Birth Defects Prevention Study, CDC and the Centers for Birth Defects Research and Prevention have begun studying the DNA of child-parent trios to better understand how variation in genes or the combination of genes and the environment play a role in the risk for birth defects. CDC has recently published findings on exome sequencing for the following birth defects: colonic atresia, bladder exstrophy, sacral agenesis, and anophthalmia and microphthalmia.
  • Promoting the U.S. Public Health Service recommendation that all people who could become pregnant get 400 micrograms of folic acid each day to prevent neural tube defects (NTDs), serious birth defects of the brain and spine. This year marked the 30-year anniversary of this historic recommendation, which led to folic acid fortification of cereal grain products. Mandatory folic acid fortification in the United States is estimated to prevent more than 1,300 NTDs annually and save an estimated $600 million each year.
• Prepared for, detected, and responded to emerging threats to pregnant people and their infants by
  • Identifying risk factors for severe illness and adverse birth outcomes in pregnant people with COVID-19. NCBDDD’s SET-NET data were critical in CDC’s efforts to describe the effects of COVID-19 infection during pregnancy. These data also helped improve public health and clinical recommendations for pregnant people, including the strong recommendation for pregnant people to receive COVID-19 vaccines.
  • Providing data that state, local, and territorial health agencies can use to address emerging issues in their communities. Health departments funded for SET-NET are using the data and the approach to increase surveillance capacity, take public health action, and create new data linkages within their jurisdictions.
• Advanced activities to address the impact of substance use during pregnancy on maternal and infant health by
  • Expanding the MATernaL and Infant NetworK (MAT-LINK)to seven clinical sites. MAT-LINK works to improve the understanding of maternal, infant, and child health outcomes associated with medication for opioid use disorder during pregnancy and examine the possible effects of exposure to multiple substances and other risk factors on outcomes.
  • Providing data on the use of alcohol during pregnancy. Recent data indicate that during 2018–2020, about 1 in 7 pregnant adults in the United States reported drinking alcohol in the past 30 days, and those with no usual healthcare provider and those reporting frequent mental distress were more likely to drink alcohol. NCBDDD continued work with academic and clinical partners to promote prevention of fetal alcohol spectrum disorders (FASDs) and support use of alcohol screening and brief intervention in medical settings.

Notable Scientific Publications

• Crider KS, et al. Folic Acid and the Prevention of Birth Defects: 30 Years of Opportunity and Controversies. Annu Rev Nutr. 2022;42:423–452.
• Gosdin LK, et al. Alcohol Consumption and Binge Drinking During Pregnancy Among Adults Aged 18–49 Years—United States, 2018–2020. MMWR Morb Mortal Wkly Rep. 2022;71(1):10–13.
• Li J, et al. Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia. Am J Med Genet A. 2022;188(8):2376–2388.
• Mai CT, et al. Changes in Spina Bifida Lesion Level After Folic Acid Fortification in the US. J Pediatr. 2022;249:56–e1.
• Meaney-Delman DM, et al. A Primer on Monkeypox Virus for Obstetrician–Gynecologists: Diagnosis, Prevention, and Treatment. Obstet Gynecol. 2022;140(3):391–397.
• Mohan Dass NL, et al. Associations between Maternal Reports of Periconceptional Fever from Miscellaneous Causes and Structural Birth Defects. Birth Defects Res. 2022;114(15):885–894.
• Neelam V, et al. Pregnancy and Infant Outcomes by Trimester of SARS-CoV-2 Infection in Pregnancy—SET-NET, 22 Jurisdictions, January 25, 2020–December 31, 2020. Birth Defects Res. [online ahead of print].
• Olsen EO, et al. SARS-CoV-2 Infections Among Neonates Born to Pregnant People with SARS-CoV-2 Infection: Maternal, Pregnancy and Birth Characteristics. Paediatr Perinat Epidemiol. 2022;36(4):476–484.
• Roth NM, et al. Zika-Associated Birth Defects Reported in Pregnancies with Laboratory Evidence of Confirmed or Possible Zika Virus Infection—U.S. Zika Pregnancy and Infant Registry, December 1, 2015–March 31, 2018. MMWR Morb Mortal Wkly Rep. 2022;71(3):73–79.
• Stallings EB, et al. Co‐occurrence of Congenital Anomalies by Maternal Race/Ethnicity Among Infants and Fetuses with Down Syndrome, 2013–2017: A U.S. Population‐based Analysis. Birth Defects Res. 2022;114(2):57–61.