Interview Study on Pregnancy and Clubfoot

ClubfootClubfoot affects approximately one in 1,000 births, but little is known about its causes.  Clinical and epidemiologic evidence suggests that it originates in early gestation, during limb development.  This population-based case-control study of clubfoot studied events and exposures during pregnancy.  The study included subjects from Massachusetts, New York, and North Carolina.  Within each state, newly diagnosed cases with clubfoot were identified from the birth defect registry and a random sample of controls were identified from birth certificate or hospital records.  Over a four year period, 680 cases and 1700 controls were enrolled.  Mothers of cases and controls were interviewed by telephone within 12 months after delivery about pregnancy.  Saliva samples were collected from cases, controls, and their mothers.

In collaboration with Dr. Jacqueline Hecht, DNA was extracted and analyzed for genetic factors. Variation in HoxA, HoxD, IGFPB3, apoptic pathway genes, and polymorphisms in NAT2 genes were evaluated.


Martha M. Werler, Sc.D., Principal Investigator
Slone Epidemiology Center at Boston University

Allen A. Mitchell, M.D., Co-Investigator
Slone Epidemiology Center at Boston University

Marlene Anderka, Sc.D., M.P.H., Co-Investigator
Massachusetts Department of Public Health

Charlotte Druschel, M.D., M.P.H., Co-Investigator
New York State Department of Health

Robert E. Meyer, Ph.D., Co-Investigator
North Carolina Division of Public Health

Andrew F. Olshan, Ph.D., Consultant
Chair of Epidemiology, University of North Carolina

James R. Kasser, M.D., and Susan T. Mahan, M.D., Consultants
Orthopedic Surgeons, Children’s Hospital Boston

Genetic Supplement:

Jacqueline T. Hecht , Ph.D., Co-Investigator
Vice Chair for Research, University of Texas Medical School at Houston, Department of Pediatrics

Susan H. Blanton, Ph.D., Co-Investigator
Hussman Institute for Human Genomics, University of Miami

Study Staff:

Mahsa Yazdy, M.P.H., Research Coordinator
Michelle Heinz, B.S., EMT-B, Research Assistant
Lisa Crowell, R.N., Nurse Interviewer
Beth Pender, R.N., Nurse Interviewer

Source of Funding:

National Institute of Child Health and Human Development

Study Period:

September 2006 to December 2011

Data File:

680 children with clubfoot and 1,700 children with no orthopedic anomalies

Yazdy MM, Werler MM. Participation in self-collection of maternal and infant DNA in a case-control study on clubfoot. Presented as a poster at the Society for Pediatric and Perinatal Epidemiology, Seattle, WA, June 22, 2010.