Crash the gene or a lack of folic acid

Crash Course on Spina Bifida Spina bifida is defined as a congenital birth defect that occurs when the neural embryonic tube only partially closes during the development of the fetus. (Sikander et al, 2016) This defect is thought to be caused by genetics and environmental factors such as carrying the gene or a lack of folic acid intake during the mother’s first trimester. There are four types of spina bifida, ranging from mild and tolerable to severe and paralyzing. Spina bifida is preventable and can be tested for prenatally.Types Occulta and Myelomeningocele The mildest form is known as spina bifida occulta, where a layer of skin hides the abnormality. People with this type of spina bifida might not even know they have the defect, as only a patch of hair over the malformation gives hint to what lies underneath. Spina bifida occulta does not always develop symptoms so people with this kind can go on to live relatively normal lives. On the opposite end of the spectrum there is the most severe type of spina bifida called myelomeningocele. With this form, the opening allows the spinal cord and spinal nerves to be exposed in a fluid filled sac outside of the body. Myelomeningocele cause many more issues such as incontinence, brain deficits, hip malformation, and loss of sensory and motor functions. (Iqbal et al, 2016) Prevention and Testing The chances of spina bifida occurring in a fetus can be reduced if the mother’s nutritional diet includes folic acid. (Sikander et al, 2016) Pre-conceptional intake of folic acid reduces neural tube defects by 70%. (Iqbal et al, 2016) Subsequently, if a mother wants to know if her fetus has developed spina bifida there are many ways to test for it. These tests include ultrasound, fetal MRI, maternal serum alpha fetoprotein (AFP), and amniocentesis. The best noninvasive test is an ultrasound because it is the safest option. It just involves gel and a painless, noninvasive probe that uses sound waves to make an image. Amniocentesis on the other hand, while up to 100% effective, requires a needle that is inserted into the placenta that can cause infection and spontaneous abortion. (Iqbal et al, 2016) Testing with amniocentesis should be cautiously considered for the very reason that it might cause a mother to terminate the pregnancy.Conclusion Spina bifida occulta can be a manageable defect to live with because the symptoms do not always appear, and there are “simple” surgery procedures to help. However, spina bifida myelomeningocele considerably drops a patient’s standard of life due to paralysis that can occur. It is a good idea to get screened for neural tube defects if suspicion occurs, because it is a difficult congenital abnormality that can cause family and financial issues for caring with a child with spina bifida. Life time care would be needed since there is no cure to repair spina bifida, only constant treatment and surgery. The best way for parents to cope would be to understand what spina bifida is, know what can be done, and prepare financially if necessary. ReferencesM. Sikander, M. Khan, G. Faran, R. Khan, Q. Ain. (2016, Dec 7). Spina Bifida And Blessing of Prenatal Testing: A Review. http://content.ebscohost.com/ContentServer.asp?T=P=AN=123612295=R=a9h=dGJyMMTo50SeqLQ4yNfsOLCmr1Cep65Srq64TK%2BWxWXS=dGJyMPGvrki3qa9RuePfgeyx43zxM. Iqbal, M. Chaudhary, M. Abbus, F. Maqsood, F. Fitima, M. Iqbal. (2016, June 10). Spina Bifida: The Basic and Clinical Review. http://content.ebscohost.com/ContentServer.asp?T=P=AN=117581672=R=a9h=dGJyMNHX8kSeqLU4yNfsOLCmr1Cep7NSsKq4TK6WxWXS=dGJyMPGvrki3qa9RuePfgeyx43zx