Birth Defects

There are several etiologies of birth defects, including single gene mutations, polygenic and multifactorial conditions, chromosomal abnormalities, and teratogens, which cause growth or developmental abnormalities. These etiologies may cause both physical and functional birth defects. The diagnosis, treatment, and management of birth defects often involves a team of professionals and specialists. Among these specialists are clinical geneticists, medical geneticists, and genetic counselors. These are all genetic service providers who are trained to help make a diagnosis and identify whether a birth defect is isolated or part of a syndrome. An accurate diagnosis is of utmost importance in being able to treat the condition and anticipate any future health concerns that may arise.

Adapted from "Leading Categories of Birth Defects." March of Dimes Perinatal Data Center, 2000.