When my client’s little girl was born with no fingers, the doctor said, with as much compassion as he could muster, “These things just happen sometimes.”  However, in the case of this beautiful child, it happened because the mother underwent a prenatal diagnostic test called chorionic villis sampling, which was a popular alternative to amniocentesis in the early 1990s.  Instead of the test detecting any genetic problems, it caused a birth defect.

In the future, doctors may have answers better than, “These things happen,” because of the National Birth Defect Prevention Study.  The Center for Disease Control and Prevention (CDC) established Centers for Birth Defects Research & Prevention in seven states.  They are conducting a scientific study of 30 major birth defects, everything from “limb deficiencies” like the little girl with no fingers, to heart defects, neural tube defects, cleft palates and congenital cataracts.

Each year, the centers review approximately 482,000 births looking for defects.  A large-scale study like this is the only way to study some of these anomalies, because some are so rare.  For example, if an anomaly occurs only four times per one million births, then, to identify and study even 10 such babies would likely take 2 ½ years under this study. 

When an irregularity is found, the researchers try to match up the baby with a normal one, and they gather data on both the normal and abnormal babies and their moms.  Parents collect cells from inside the cheeks of the mother and baby for DNA processing.   The DNA is studied, and data are compiled in a centralized database.  A portion of the DNA is stored in a specimen bank to use for future research when new medical theories and technologies arise.

The centers also interview parents, covering medical and pregnancy history, occupational and environmental exposures, lifestyle, diet, and medication use. 

The data will be critical in determining the cause of birth anomalies that can be so distressing or devastating to the children and their families.  In the two years of the study, more than 4,000 interviews have been completed already, and the centers are beginning to develop plans to analyze the data.

We hope that this study will better identify risk factors of serious birth defects so that expectant parents can minimize those risks.  Also, when a child is born with an anomaly, doctors will be able to provide better guidance to parents on whether the likely cause was genetic or environmental so parents can make informed choices on whether to conceive another baby.   Obviously, this is much more helpful than hearing even the most empathetic doctor attribute missing fingers or other anomalies to fate.