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Birth defects affect about one in every 33 babies born in the United States each year. They are the leading cause of infant deaths, accounting for more than 20% of all infant deaths. Babies born with birth defects have a greater chance of illness and long term disability than babies without birth defects. In Pennsylvania, approximately 2% of births (2 out of 100 babies) or 2,761 had a birth defect reported on their birth certificate in 2002.
A birth defect is an irregularity of structure, function or metabolism (body chemistry) present at birth that results in a physical or mental disability, or which may cause death. Several thousand different birth defects have been identified. Such defects are the leading cause of death among children in the first year of life. Pennsylvania mortality data for 2004 show that 414 residents died due to birth defects and chromosomal abnormalities. Of these deaths, 204 were children under five years of age, and 90% of those (183) died before reaching one year of age.
Birth defects are generally grouped into three major categories:
Structural/metabolic abnormalities:
- Occur when some part of the body (internal or external) is missing, is not shaped or working properly or when the body is unable to metabolize certain substances due to an inborn genetic error.
- Heart defects are the most common type of structural birth defect, affecting one baby in 125.
- Examples of metabolic disorders include Tay-Sachs disease or Phenylketonuria (PKU).
Congenital infections:
- The most common is Rubella or German measles.
- Pregnant women infected with Rubella during their first trimester of pregnancy are at increased risk for having a baby born with one or more features of Congenital Rubella Syndrome (deafness, mental retardation, heart defects and blindness).
- With widespread vaccination, this syndrome is now rare in the United States.
Other causes:
- Environmental factors such as drug or alcohol abuse, and exposure to certain prescription medications or other chemicals.
Frequently Asked Questions
Does PA screen newborns for birth defects? Yes.
What are neural tube defects? Neural tube defects (NTD) occur when the brain and spinal cord do not form properly. The neural tube is the embryonic structure that develops into the brain and spinal cord. This structure starts out as a small ribbon of tissue that normally folds inward to make a tube by the 28 th day after a woman becomes pregnant.
When this process does not work properly, the neural tube does not close completely and the brain and spinal cord may not develop normally. Approximately 2,500 babies are born in the United States each year with birth defects of the brain and spinal cord. In these cases where the brain and spinal cord do not develop properly, the pregnancy sometimes ends in a miscarriage or stillbirth.
What are common neural tube defects?
Anencephaly – A fatal birth defect that happens when the neural tube does not fully close at the top. As a result, part of the skull and brain are missing. Babies with anencephaly die before or shortly after birth.
Spina Bifida - Often called “opened spine,” the bony spinal column and soft tissue layer over the spine do not form properly, leaving the spinal cord exposed. Children with a severe case of spina bifida may have some bladder and bowel control problems and paralysis in their legs.
Encephalocele - A condition resulting in abnormal closure of the skull where a portion of the brain is contained in a sac outside the skull.
Can birth defects be prevented? There are a number of steps a woman can take to reduce her risk of having a baby with a birth defect. An important first step is a pre-pregnancy visit with a health care provider to obtain information about risk factors for a birth defect or inherited genetic condition. Other steps include taking a multivitamin containing 400 micrograms of folic acid and avoiding alcohol, smoking and drugs during pregnancy.
What types of services does the Health Department provide regarding birth defects prevention? The Pennsylvania Department of Health funds genetic screenings, preconceptional health assessments, folic acid education, and genetic counseling services to low-income individuals and families seeking information about the occurrence, or risk of recurrence, of a genetic condition or birth defect.
Nurse consultants from the six Department of Health District Offices distribute posters, birth defects prevention and folic acid educational materials and fact sheets. They also provide educational presentations on folic acid and birth defect prevention across the Commonwealth.
The Department participates in National Birth Defects Prevention Month recognized each year in January. The goal of Birth Defects Prevention Month is to create awareness that birth defects are the leading cause of death in children less than one year old and that some birth defects are preventable.
What types of services does the Health Department provide for parents of Children with Special Health Care Needs? Special Kids Network (SKN), a statewide information and referral resource for families and caregivers of children with special needs and the providers who serve them. If you are the parent or caregiver of a child who has special needs, this free program can provide you with support, up-to-date information, and referrals to statewide agencies and organizations that serve children with special health care needs. Visit the SKN website or call the toll-free number at 1-800-986-4550 .
Additional Resources
Genetics
Folic Acid
Newborn Screening
Contact Information
Bureau of Family Health
Division of Newborn Screening and Genetics
Genetic Services Program Administrator
625 Forster Street
7th Floor, East Wing
Harrisburg, PA 17120-0701
(717) 783-8143
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