Study Center: Massachusetts

The Massachusetts Center for Birth Defects Research and Prevention is a collaboration between the Massachusetts Department of Public Health, the Slone Epidemiology Center at Boston University, the Boston University School of Public Health, and the Genetics Unit at MassGeneral Hospital for Children. The Center has been and is supported by the Centers for Disease Control and Prevention as a Center for Excellence in Birth Defects Research. The Center also draws on the expertise of the region's clinicians and researchers and fosters communication among them.

For more than 20 years, the Massachusetts Center has and will continue to perform the following activities:

  • Collecting data on subjects with birth defects and identifying related trends 
  • Searching for causative factors linked with birth defects
  • Addressing community concerns about birth defects
  • Providing information and referral to families of children with birth defects 
  • Measuring the success of screening and prevention efforts

Principal Investigators

Mahsa Yazdy, PhD, MPH

Principal Investigator

Mahsa Yazdy, PhD, MPH is the Principal Investigator of the Massachusetts Center for Birth Defects Research and Prevention and Director of the Division for Surveillance, Research, and Promotion of Perinatal Health at the Massachusetts Department of Public Health. Dr. Yazdy joined the Massachusetts Center in 2016, bringing with her over 10 years of experience in birth defects research. Her research focuses on how medications and environmental exposures during pregnancy impact the risk of birth defects.

Martha Werler, DSc, MPH

Co-Principal Investigator

Martha Werler, DSc, MPH is Co-Principal Investigator of the Massachusetts Center for Birth Defects Research and Prevention and a Professor of Epidemiology at Boston University School of Public Health.  She is a perinatal epidemiologist whose research focuses on the impact of pregnancy exposures on birth outcomes, including congenital malformations, fetal growth, and neurodevelopment. She studies medication use in pregnancy, including analgesic, anti-inflammatory, anti-emetic, anti-depressant, and anti-epileptic drugs.

Former Principal Investigators

Allen Mitchell, MD

Co-Principal Investigator

Allen Mitchell, MD, was the Co-Principal Investigator of the Massachusetts Center for Birth Defects Research and Prevention until he retired in 2020. Dr. Mitchell was a Professor of Epidemiology and Professor of Pediatrics at the Boston University Schools of Public Health and Medicine, as well as the Director of the Slone Epidemiology Center at Boston University from 1998-2015. His research focuses on pharmacoepidemiology and birth defects and he has authored numerous publications in the fields of pediatric and birth defects pharmacoepidemiology.

Marlene Anderka, ScD, MPH

Principal Investigator

Marlene Anderka, ScD, MPH was the Director of Center for Birth Defects Research and Prevention at the Massachusetts Department of Public Health and the Principal Investigator until 2016. She retired after 37 years of work in maternal and child health. Dr. Anderka played a key role in expanding the Massachusetts Center and served as the Principal Investigator and the Director for 15 years.

Local Activities and Research

  • As part of the National Birth Defects Prevention Study (NBDPS), the Massachusetts Center has led national efforts to understand the use of the wide range of medications taken by pregnant women and to evaluate whether these medications may increase the risk of birth defects. In this important and specialized area, we conduct our own investigations of the NBDPS data and provide expert advice to researchers in other centers around the country. For NBDPS, Massachusetts researchers have:

    • Studied whether prescription, over-the-counter medicines and herbal preparations might increase risks for birth defects. 
    • Examined genetic risk factors that play an important role in whether a particular medicine increases the risk of birth defects. Families planning pregnancies can use this kind of information to avoid certain medications which could harm their babies. 
    • Linked Massachusetts birth defects surveillance data to the unique Massachusetts Pregnancy to Early Life Longitudinal database so we can identify medical services that are used and the costs and outcomes among infants with selected birth defects. 
    • Studied the link between assisted reproductive technology and higher risks of birth defects. Massachusetts families frequently use assisted reproductive technology and our center will continue to study this problem with the hope of identifying how risks might be reduced in the future.

    COLLABORATORS

    • Massachusetts Department of Public Health
    • Slone Epidemiology Center, Boston University
    • Boston University School of Public Health, Department of Epidemiology
    • Harvard School of Public Health
    MassGeneral Hospital for Children (MGH), Genetics Unit

Notable Research Findings

The following are selected examples of important research publications led by the MA Center. 

Heinke D, Nestoridi E, Hernandez-Diaz S, Williams PL, Rich-Edwards JW, Lin AE, et al. Risk of stillbirth among fetuses with non-syndromic major birth defects. Obstet Gynecol. 2020 Jan;135(1):133–40. 

Heinke D, Rich-Edwards JW, Williams PL, Hernandez-Diaz S, Anderka M, Fisher SC, et al. Quantification of selection bias in studies of risk factors for birth defects among livebirths. Paediatr Perinat Epidemiol. 2020 Nov;34(6):655–64. 

Schrager NL, Adrien N, Werler MM, Parker SE, Van Bennekom C, Mitchell AA, et al. Trends in first-trimester nausea and vomiting of pregnancy and use of select treatments: Findings from the National Birth Defects Prevention Study. Paediatr Perinat Epidemiol. 2021 Jan;35(1):57–64. 

Kerr S, Heinke D, Yazdy MM, Mitchell AA, Darling AM, Lin A, et al. Use of vasoactive medications in pregnancy and the risk of stillbirth among birth defect cases. Birth Defects Res. 2022 May;114(8):277–94. 

Schrager NL, Parker SE, Werler MM, For The National Birth Defects Prevention Study null. The association of nausea and vomiting of pregnancy, its treatments, and select birth defects: Findings from the National Birth Defect Prevention Study. Birth Defects Res. 2022 Sep 27; 

Adrien N, Orta OR, Nestoridi E, Carmichael SL, Yazdy MM, National Birth Defects Prevention Study. Early pregnancy vitamin D status and risk of select congenital anomalies in the National Birth Defects Prevention Study. Birth Defects Res. 2023 Feb 1;115(3):290–301. 

Petersen JM, Kahrs JC, Adrien N, Wood ME, Olshan AF, Smith LH, et al. Bias analyses to investigate the impact of differential participation: Application to a birth defects case-control study. Paediatr Perinat Epidemiol. 2023 Dec 15; 

Petersen JM, Smith-Webb RS, Shaw GM, Carmichael SL, Desrosiers TA, Nestoridi E, et al. Periconceptional intakes of methyl donors and other micronutrients involved in one-carbon metabolism may further reduce the risk of neural tube defects in offspring: a United States population-based case-control study of women meeting the folic acid recommendations. Am J Clin Nutr. 2023 Sep;118(3):720–8. 

Werler MM, Kerr SM, Ailes EC, Reefhuis J, Gilboa SM, Browne ML, et al. Patterns of Prescription Medication Use during the First Trimester of Pregnancy in the United States, 1997-2018. Clin Pharmacol Ther. 2023 Oct;114(4):836–44. 

Darling AM, Yazdy MM, García MH, Carmichael SL, Shaw GM, Nestoridi E, et al. Preconception dietary glycemic index and risk for large-for-gestational age births. Nutrition. 2024 Mar;119:112322.