The Massachusetts Birth Defects Center has a focus studying the relationship of medications and other agents and birth defects, besides clinical and methodological studies. Marked in bold are Massachusetts Birth Defects Center staff and collaborators. These are selected publications of the MA Center.

Medication and Drug Exposure and Risk of Birth Defects

Anderka M, Mitchell A, Louik C, Werler M, Hernández-Díaz S, Rasmussen S, and the National Birth Defects Prevention Study. Medications used to treat nausea and vomiting of pregnancy and risk of selected birth defects. Birth Defects Res A Clin Mol Teratol 2011. DOI: 10.1002/bdra.22865.

Hernandez, RK, Werler, MM, Romitti, P, Sun, L, Anderka, M, and the National Birth Defects Prevention Study, Nonsteroidal Anti-Inflammatory Drug Use among Women and the Risk of Birth Defects, American Journal of Obstetrics and Gynecology (2011). DOI: 10.1016/j.AJOG.2011.11.019.

Mitchell AA, Gilboa SM, Werler MM, Kelley KE, Louik C, Hernández-Díaz S; National Birth Defects Prevention Study. Medication use during pregnancy, with particular focus on prescription drugs: 1976-2008. Am J Obstet Gynecol. 2011; 205(1):51.e1-51.e8.

Werler MM, Ahrens KA, Bosco JL, Mitchell AA, Anderka MT, Gilboa SM, Holmes LB, and the National Birth Defects Prevention Study. Use of antiepileptic medications in pregnancy in relation to risks of birth defects. Annals of Epidemiology 2011;21:842-850.

Miller EA, Manning SE, Rasmussen SA, Reefhuis J, Honein MA.  Maternal exposure to tobacco smoke, alcohol and caffeine and risk of anorectal atresia – National Birth Defects Prevention Study 1997-2003. Paediatr Perinat Epidemiol. 2009 Jan;23(1):9-17.

Werler MM, Bosco JL, Shapira SK. Maternal vasoactive exposures, amniotic bands, and terminal transverse limb defects. Birth Defects Res A Clin Mol Teratol. 2009;85:52-57.

Carter TC, Druschel CM, Romitti PA, Olney R, Werler M, Mitchell A and the National Birth Defects Prevention Study.  Antifungal drugs and the risk of selected birth defects. American Journal of Obstetrics and Gynecology. 2008; 198(2):191.e1-191.e7.

Werler MM. Teratogen update: pseudoephedrine. Birth Defects Res A Clin Mol Teratol 2006;76(6):445-52.

Cleves MA, Savell VH Jr, Raj S, Zhao W, Correa A, Werler MM, Hobbs CA; National Birth Defects Prevention Study. Maternal use of acetaminophen and nonsteroidal anti-inflammatory drugs (NSAIDS), and muscular ventricular septal defects.  Birth Defects Res A Clin Mol Teratol 2004;70(3):107-13.

Werler MM, Sheehan JE, Mitchell AA. Association of vasoconstrictive exposures with risks of gastroschisis and small intestinal atresia. Epidemiology 2003;14(3):349-54.

Clinical Aspects of Birth Defects and Genetic Studies

Holmes, LB. Common Malformations. Oxford University Press, 2011.

Pober BR, M Longoni, KM Noonan. A Review of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) syndrome: Clinical Features and Differential diagnosis. Birth Defects Research A: Clin Mol Teratology 2009. 85:76-81.   

Lin AE, Pober BR, Adatia I. Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency and impact on management.  Am J Med Genet C Semin Med Genet 2007;145C:201-16.

Botto LD, Lin AE, Riehle-Colarusso T, Malik S, Correa A; National Birth Defects Prevention Study. Seeking causes: classifying and evaluating congenital heart defects in etiologic studies. Birth Defects Res A Clin Mol Teratol 2007;79(10):714-27.

Lin AE, Ardinger HH. Genetic epidemiology of cardiovascular malformations. Prog Pediatr Cardiol 2005;20(2):113-26.

Werler MM, Sheehan JE, Mitchell AA. Gulf War veterans and hemifacial microsomia.  Birth Defects Res A Clin Mol Teratol 2005;73(1):50-52.

Lin AE, Ardinger HH. “Genetic Hearing Loss Associated with Defects.” In: Hereditary Hearing Loss and Syndromes. Eds. Toriello JV, Reardon W, Gorlin RJ, Oxford: Oxford University Press, 2004.

Stoler JM, Holmes LB. Recognition of facial features of fetal alcohol syndrome in the newborn. Am J Med Genet C Semin Med Genet 2004;127C(1):21-7.

Werler MM, Sheehan JE, Hayes C, Padwa BL, Mitchell AA, Mulliken JB. Demographic and reproductive factors associated with hemifacial microsomia. Cleft Palate Craniofacial Journal 2004;41:494-500.

Kohlhase J, Holmes LB. Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide.  Birth Defects Res A Clin Mol Teratol 2004;70(8):550-1.

Lin AE, Botto L, Ghaffar S, Cosper C, Correa A; National Birth Defects Prevention Study. Classification of cardiovascular malformations in the National Birth Defects Prevention Study [abstract]. Am J Hum Genet 2003:73:165.

Werler MM, Louik C, Mitchell AA. Epidemiologic analysis of maternal factors and amniotic band defects. Birth Defects Res A Clin Mol Teratol 2003;67(1):68-72.

Drapkin RI, Genest DR, Holmes LB, Huang T, Vargas SO. Unilateral transverse arm defect with subterminal digital nubbins. Pediatr Dev Pathol 2003;6(4):348-54.

Birth Defects Research Methodology

Cogswell ME, Bitsko RH, Anderka M, Caton AR, Feldkamp ML, Hockett Sherlock SM, Meyer RE, Ramadhani T, Robbins JM, Shaw GM, Matthews TJ, Royle M, Reefhuis J, and the National Birth Defects Prevention Study. Control Selection and Participation in an Ongoing, Population-Based, Case-Control Study of Birth Defects. Am J Epidemiol 2009;170:975-985.

Mitchell AA. Systematic identification of drugs that cause birth defects - a new opportunity. N Engl J Med 2003;349(26):2556-9.

Rasmussen SA, Olney RS, Holmes LB, Lin AE, Keppler-Noreuil KM, Moore CA; National Birth Defects Prevention Study. Guidelines for case classification for the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol 2003;67(3):193-201.

Rasmussen SA, Lammer EJ, Shaw GM, Finnell RH, McGehee RE, Gallagher M, Romitti PA, Murray JC, and the National Birth Defects Prevention Study.  Integration of DNA sample collection into a multi-site birth defects case-control study.  Teratology 2002; 66:177-84.

Yoon PW, Rasmussen SA, Lynberg MC, Moore CA, Anderka M, Carmichael SL, Costa P, Druschel C, Hobbs CA, Romitti PA, Langlois PH, Edmonds LD. The National Birth Defects Prevention Study.  Public Health Reports. 2001;116:32-40.


This information is provided by the Center for Birth Defects Research and Prevention within the Department of Public Health