Prenatally Diagnosed Birth Defects

Pregnant women frequently receive a prenatal diagnosis from a variety of techniques, both invasive and non-invasive, when they are provided prenatal care. The techniques are employed to determine the health and condition of the developing fetus. These techniques may involve ultrasonography, amniocentesis, chorionic villus sampling (CVS), maternal serum alpha-fetoprotein or others. An ultrasound can help diagnose structural birth defects, such as spina bifida, heart defects and some urinary tract defects. Amniocentesis and CVS are used to diagnose or rule out chromosomal abnormalities, such as Down syndrome and numerous other genetic birth defects. Most women have screening tests (blood tests) to see if they are at risk of certain birth defects. These screening tests cannot diagnose a condition, but they can suggest that further diagnostic testing is needed.

There are a number of congenital birth defects that can be diagnosed from these techniques. A birth defect is an abnormality of structure or a function of metabolism present at birth that results in physical or mental disabilities or death. Birth defects are the leading cause of infant mortality in the United States, accounting for 20% of all infant deaths. Approximately 1 in 33 babies are born each year in the United States with a birth defect; nearly 6,000 die during their first year of life. Several thousand different birth defects have been identified.

Birth defects are the fifth leading cause of years of potential life lost and contribute substantially to childhood morbidity and long-term disability. Birth defects also account for 30% of all pediatric hospital admissions. Annual costs for birth defect related conditions are nearly $2 billion.

Support services are provided through several state and national organizations for women and families who have received a positive test diagnosis for Down syndrome or any of the other conditions. Information concerning support services is included with each congenital birth defect description. Click here for a complete list of resources related to birth defects, including state programs and resources, support groups and not-for-profit organizations.

You will also find a listing of providers for alternatives to abortion services by clicking here: http://oa.mo.gov/co/ata/index.htm. The Alternatives to Abortion Program funds services for a pregnant woman and continuing one year thereafter, to assist her in carrying her unborn child to term instead of having an abortion and to assist her in caring for her dependent child or placing her child for adoption. Services include prenatal care, medical and mental health care, parenting skills, newborn or infant care, housing, utilities, educational services, food and clothing and supplies related to the pregnancy, adoption assistance, ultrasound services, and job training and placement. These services are provided for pregnant women at or below 200% of the federal poverty level.

Hospitals with clinics to provide care to those diagnosed with one of these conditions, as well as for other birth defects, include:

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