is spina bifida genetic

Genetics and spina bifida


What is spina bifida?

Spina bifida is a birth defect in which the spine does not form completely. Seven out of every 10,000 babies born in the United States have spina bifida. This means that every day approximately 8 babies are born with spina bifida. Spina bifida occurs in the first month of pregnancy - before most women find out they are pregnant.
What causes spina bifida?
The exact cause of spina bifida is unknown. It is believed that spina bifida is caused by a combination of genetic factors (of one or more genes) and environmental factors. Therefore, it is possible that when a person has inherited genes that make her prone to spina bifida, there is also something in the environment that causes spina bifida to develop.
How can spina bifida be prevented?
There is no guaranteed method to avoid birth defects, but there are ways to reduce the risk. According to some studies, when a woman takes folic acid (a B vitamin that dissolves in water) before becoming pregnant and during the first trimester of pregnancy, the chances of the baby being born with a spine can be reduced by up to 75 percent. bifida. Therefore, it is recommended that all women of childbearing age take 0.4 milligrams (400 micrograms) of folic acid each day, especially one month before becoming pregnant and during the first trimester of pregnancy. Women who have already had a pregnancy with spina bifida are advised to take a higher dose of folic acid - they should take 4.0 milligrams each day. This dose of 4.0 milligrams of folic acid should be prescribed and supervised by the doctor. Such a high dose should not be obtained by increasing the dose of a multivitamin complex containing folic acid, since high levels of the other vitamins can be harmful. However, some women despite supplementing their diet with folic acid can still have a baby with spina bifida. Folic acid does not prevent all cases of spina bifida.
Are there factors that increase the chances of having a pregnancy with spina bifida?
Yes. Genetics, environmental factors and certain diseases or medicines, among others, affect the outcome of a pregnancy. These factors include:

    A previous pregnancy with spina bifida (which increases the chances of a woman having an affected pregnancy by 20 to 50 times)

    Family history of spina bifida in other relatives, even if they are distant relatives, such as siblings, parents, uncles / aunts, grandparents, cousins, etc.

    If the mother has diabetes that requires insulin

    If the mother consumes certain anticonvulsant medications

    If the mother has obesity diagnosed by a doctor

    Race / ethnic group (spina bifida is more common among whites than among African Americans and more common among Hispanics than non-Hispanics)

Other factors that are not so common but may also increase a woman's chances of having a baby with spina bifida are:

    Being exposed to high temperatures early in pregnancy (eg, prolonged high fever and using hot tubs and saunas for a long time)

    If the father has been exposed to Agent Orange

Can genetic research help?
The scientific community recognizes that there is a relationship with genetics. Currently, researchers are trying to identify the specific gene or genes that help spina bifida develop. It is hoped that these discoveries can at some point help to better understand how spina bifida develops and thus find better treatments and even a cure. Genetic discoveries could also lead to new genetic tests to determine the likelihood that an individual or couple has a baby with spina bifida.
Should I talk to a genetic counselor?
If you want to know more about your chances of having a baby with spina bifida or another neural tube defect, talk to a genetic counselor. A genetic counselor can suggest appropriate tests, explain procedures and test results, present options and answer your questions.
How can I find a genetic counselor?
To find a genetic counselor in your area, please contact the National Society of Genetics Counselors (National Society of Genetic Counselors):