In this topic, we are going to discuss genetics and Spina Bifida (SB). While it’s impossible to completely prevent Spina Bifida, you can take steps to reduce the risk. Understanding the role of genetics in pregnancy can aid in family planning. If you have a family history of Spina Bifida and are considering starting a family, consulting a genetic counsellor about pregnancy, potential risks, and available tests is advisable.

What is Spina Bifida?

Typically occurring in the first month of pregnancy, SB is a birth defect where the spinal cord don’t form properly or in simpler wrods, when the spine of a baby in the womb does not close all the way. Every day, about four to five, out of thousand babies who are born in India, have SB or a similar birth defect.

What causes Spina Bifida?

There is no conclusive data on what is the actual cause. Experts think that both genetics (one or more genes), nutritonal and environmental factors interact to cause SB. Genetics and Spina Bifida are related.

Embryology

The neural tube is a temporary structure formed during embryonic development, serving as the precursor to the central nervous system, which includes the brain and spinal cord. In human embryos, this critical process takes place between days 17 and 28 post-fertilization. Any disruption during this phase of embryogenesis can lead to neural tube defects (NTDs).

During primary neurulation, the brain and spinal cord are developed, particularly the sections from the medulla to the mid-lumbar enlargement. This process shapes, folds, and fuses the neural plate along the midline. Any disruptions in neural tube closure during primary neurulation can result in various neural tube defects (NTDs), including Spina Bifida (SB).

The Impact of Genetics on Spina Bifida

Genetics can influence an individual’s risk of developing Spina Bifida. However, it is not attributed to a single gene. Research on mice has identified over 240 different genetic mutations associated with Spina Bifida. In humans, Spina Bifida has been linked to the autosomal dominant inheritance of specific genes:

• VANGL1
• VANGL2
• FUZ
• CELSR1
• TBXT

The MTHFR gene is another potential link to Spina Bifida. Individuals with mutations in this gene may struggle to metabolize folate, a crucial vitamin for preventing neural tube defects.

How to prevent Spina Bifida?

While it’s impossible to completely prevent birth defects, you can reduce the risk. Research indicates that taking folic acid at least one month before and during the first three months of pregnancy can lower the risk by up to 70 per cent. However, folic acid doesn’t prevent all cases of SB, and some babies may still be affected even with the correct daily intake of folate.

Who is at risk for having a baby with Spina Bifida?

Any woman who can become pregnant has the potential to have a baby with SB. While those with a first-degree relative (parent or sibling) with SB have a higher likelihood, it’s impossible to predict which women will have an affected pregnancy.

Experts recognize that genetics play a role in SB and are actively searching for the specific gene(s) responsible. Over time, researchers expect to clarify how SB develops, potentially leading to new treatments or even a cure. This ongoing research may also result in new tests that help individuals or couples assess their risk of having a baby with SB.

Please Note

The information provided on our website is not intended as medical advice for any individual. Since specific cases may differ from the general information presented, SASHA recommends consulting a qualified medical or other professional for personalized advice.

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