The global toll of birth defects
Every year 7.8 million children are born with a serious birth defect of genetic or partly genetic origin. Hundreds of thousands more are born with serious birth defects due to teratogens, including fetal alcohol syndrome, maternal iodine deficiency syndrome, congenital syphilis and congenital rubella syndrome. More than 3.3 million children die from birth defects each year, with a particularly severe impact in developing countries where more than 90 percent of births and 95 percent of deaths of children with serious birth defects occur.
Birth defects, however, do not only kill. When disability is considered, the global toll of birth defects reflects an even harsher reality. Many infants burdened with serious birth defects die early in life, particularly in lower-income countries, and those who survive almost always have the potential to be disabled, either as a direct or indirect result of their condition. Improvements in patient care have contributed significantly to decreased levels of disability in individuals born in wealthy nations. However, only limited application of this knowledge and technology has occurred in lower-income countries, which currently do not have broad access to comprehensive services for care and prevention, and where 85 percent of the world's 6 billion people live.
There is promise, however. The March of Dimes report concluded that up to 70 percent of birth defects could be prevented, ameliorated or treated globally by strengthening primary care services built on a continuum of preconception care, antenatal care, management of labor, and newborn and child health care for infants and children with acute and chronic disorders.
First steps for low-income countries with high rates of infant mortality should include educating the community, health professionals and workers, policy makers, the media and other stakeholders about the toll taken by birth defects and opportunities for effective prevention, treatment and care. This includes ensuring a healthy, balanced diet and controlling infections and chronic conditions during a woman's reproductive years; training physicians, nurses, allied health professionals and workers in the recognition and care of children with common treatable birth defects; and expanding capacity for birth defects surveillance and monitoring.
Middle-income countries with infant mortality rates approximating those of the United States in the early 1960s, when it began its systematic effort to strengthen medical genetics services for the care of affected children and prevention of birth defects, could take next steps, including training health care professionals in medical genetics; identifying couples at higher risk of having children with genetic disorders; establishing newborn screening programs to identify babies born with treatable metabolic disorders; and educating women and men of childbearing age about how they can work with health professionals to maximize the chances of having a healthy pregnancy and baby.