Birth Defects

Consider that 1 in 33 babies is born with a birth defect. What’s more, birth defects represent the leading cause of infant mortality, accounting for 20 percent of the infant deaths in the U.S. Among survivors, many complex birth defects are associated with serious functional and neurodevelopmental outcomes. The etiologies of many birth defects are currently unknown, and therefore efforts to prevent or ameliorate them are hindered. Furthermore, the broad diversity of birth defects makes them especially difficult to study, as they impact every major structure and organ system of the body, and any specific birth defect is relatively rare in any single institution.

This is a pressing national problem, and California has much at stake in that 15 percent of all U.S. births occur here. Every year, more than 15,000 babies born in California are diagnosed with a birth defect, and more than 3,000 die before their first birthday.

Within the Division of Neonatal and Developmental Medicine, we have many ongoing projects that investigate risk factors for structural birth defects, and studies addressing the health of babies born with birth defects. Our faculty members are particularly well-known for their research regarding hypospadias, congenital heart disease, neural tube defects, orofacial clefts, gastroschisis, and limb defects. The Fetal and Pregnancy Health Program, our multidisciplinary program for diagnosis and management of complex fetal problems within the Johnson Center for Pregnancy and Newborn Services, provides an innovative and comprehensive continuum of care approach from pregnancy management to delivery planning to neonatal care.

In our studies of birth defects, we benefit from our collaborations with or our access to population-based and other large databases including the California Birth Defects Monitoring Program, the California Perinatal Quality Care Collaborative (CPQCC), California Maternal Quality Care Collaborative, and the High Risk Infant Follow-up Quality of Care Initiative in association with CPQCC and California Children’s Services. We’ve also done some of this work in conjunction with the March of Dimes Prematurity Research Center. Our scope is at once singularly-narrow and population-broad, focusing on how genetics as well as environmental influences contribute comprehensively to individual susceptibility. Given the different communities in California, we have unique opportunities to make exposure assessments, studying the effects of air pollution, water quality and pesticides. We also lead groundbreaking research in perinatal nutrition and its impact on birth defect occurrences. Specifically, we’ve contributed to one of modern medicine’s success stories: the necessity for folic acid supplementation during pregnancy.

Stanford holds a number of leadership roles nationally and throughout the state. Our faculty in partnership with State programs (California Birth Defects Monitoring Program) has led the California Center in a national multi-site study sponsored by the Centers for Disease Control and Prevention.  This study, known as National Birth Defects Prevention Study and now replaced by a new study called BD-STEPS, investigates potential causes and preventives of a large number of different birth defects.  These efforts are the largest research studies of their kind ever conducted in the US.


Professor (Research) of Pediatrics (Neonatology), of Obstetrics & Gynecology (Maternal Fetal Medicine) and, by courtesy, of Epidemiology and Population Health
Robert L. Hess Family Professor and Professor, by courtesy, of Obstetrics and Gynecology
NICU Nurses Professor and Professor (Research), by courtesy, of Epidemiology and Population Health and of Obstetrics and Gynecology (Maternal Fetal Medicine)
Harold K. Faber Professor of Pediatrics, Senior Associate Dean, Maternal and Child Health and Professor, by courtesy, of Obstetrics and Gynecology and of Anesthesiology, Perioperative and Pain Medicine