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Birth Defects

Happy Family imageFolic acid contributes to overall good health and is particularly important for women of childbearing age. Insufficient folic acid is a major cause of serious birth defects involving the spine and brain (neural tube defects). Some studies suggest that folic acid may also reduce a baby’s risk of other birth defects, such as orofacial clefts, heart defects and urinary defects. Folic acid may also help protect women and men from cardiovascular disease and some cancers, including cervical, colon, and breast. To view the folic acid educational power point curriculum click on Folic Acid: For The Future (.ppt).

Precautions to take while Pregnant

Birth defects are the leading cause of infant mortality, and the costs, both monetary and non-monetary, to individuals, families, communities, and the health care industry are substantial.  Nationally, there are 120,000 babies (about 1 in 33) born with a birth defect each year.

During pregnancy, a woman may be exposed to various infectious diseases, some of which have the ability to infect the placenta and seriously harm a fetus resulting in deafness, vision loss, neurological and behavioral disorders, or other birth defects.  Toxoplasmosis, cytomegalovirus (CMV), varicella, rubella, and lymphocytic choriomeningitis virus (LCMV) are among the agents that are recognized to have the potential to cause birth defects in a developing fetus.  Additionally, while some infectious diseases may not pass from an infected mother to her baby, they may have a serious impact on pregnancy such as uterine infection, miscarriage, premature labor, or stillbirth.

Prenatal testing for immunity to infections is an ideal start for any woman planning a family.  Furthermore, should exposure to infectious disease occur while a woman is pregnant, she should be aware that consultation with her physician is important to determine the likelihood of infection or harm to the fetus, and the preventive measures available such as vaccination.

To learn more about the common infections that pregnant women can have that may cause serious birth defects in a developing baby click on the following links
http://www.dhss.mo.gov/Genetics/TalkCornerArchives/1_08PreventBirthDefects.html
http://www.cdc.gov/features/pregnancy/

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.

The conditions listed below, even though rare, are some of the most commonly diagnosed congenital birth defects that may result in pregnancy termination. Click on each congenital birth defect for brief information describing it. Further information may be obtained from the web sites listed with each birth defect or by speaking with your obstetrician or other health care provider.

pdf file Anencephaly
pdf file Congenital heart defects
pdf file Diaphragmatic hernia
pdf file Dandy-Walker Syndrome
pdf file Down syndrome
pdf file Omphalocele
pdf file Skeletal dysplasia
pdf file Spina bifida
pdf file Trisomy 13
pdf file Trisomy 18

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://www.dhss.mo.gov/AlternativesToAbortion/. 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:

Cardinal Glennon Children’s Hospital
St. Louis, Missouri
314-577-5639

Children’s Hospital at University Hospital and Clinics
Columbia, Missouri
573-882-6991

Children’s Mercy Hospital
Kansas City, Missouri
816-234-3290

St. Louis Children’s Hospital
St. Louis, Missouri
314-454-6093

References:

Centers for Disease Control and Prevention (CDC). Birth Defects http://www.cdc.gov/az/b.html

2004 Annual Report Metropolitan Atlanta Congenital Birth Defects Program.
Centers for Disease Control and Prevention, National Center on Birth Defects and
Developmental Disabilities and the Metropolitan Atlanta Congenital Birth Defects
Program.