Folic Acid Deficiency & Birth Defects

Anemia (low red blood cells) from folic acid deficiency was once a somewhat common health complication in newborn babies. Today, thankfully, this type of infant anemia is very rare thanks to a better understanding of folic acid deficiency.  We now know that folic acid helps women to get pregnant and maintain and healthy pregnancy.  

Moms now have access to prenatal vitamins and prenatal care promoting foods that are rich in folic acid. Although neonatal anemia from folic acid deficiency is very rare now, it still does occur in some cases and it can lead to major medical problems for the baby.  The key is doctors have to educate patients about folic acid deficiency.  Hopefully, our website is also helping properly spread the word. 

Folic acid deficiency or Folate deficiency is the lack of sufficient folic acid in the blood. Folic Acid is a type of B Vitamin that plays a key role in the production of red blood cells in the body. If there is not enough red blood cells in the body than a person will most likely be anemic. Everyone needs folic acid but it is particularly important for women who are pregnant. Healthy folic acid levels and intake during pregnancy helps prevent certain types of birth defects.  A new study suggests folic acid supplements are helpful in preventing gestational diabetes. 

Folic acid helps to fuel to the production of red blood cells. Red blood cells are the most numerous type of cells inside the human body. They carry oxygen to all organs and tissue in the various parts of the body. If a person is anemic they don't have enough red blood cells and the blood cannot bring enough oxygen to the organs and tissues. This will prevent the body from functioning properly.

Folic acid cannot be naturally stored inside the body. This means that folic acid must be continuously replenished every day through food consumption. Folic acid deficiency occurs anytime folic acid levels in the body drop below a certain normal point. There are different causes for folic acid deficiency, some that are controllable and others that are not. Some causes include:

• Lack of Folic Acid in Diet: Folic Acid is in green leafy vegetables, fresh fruits, fortified cereals, yeast, and meats. Not eating enough of these food can lead to folic acid deficiency. .
• Too much alcohol intake: Over time, too much alcohol makes it harder for the intestines to absorb things like folic acid
• Certain diseases: Diseases such as celiac disease and cancer can cause low levels of folic acid.
• Certain medications: Some medications can prevent the body from absorbing folic acid such as phenytoin, methotrexate, sulfasalazine, triamterene, pyrimethamine, trimethoprim-sulfamethoxazole, and barbiturates.
• Pregnancy: Pregnant mothers are more susceptible to folic acid deficiency because the developing fetus needs more folic acid. The pregnant mother absorbs the acid more slowly.
• Genetics: Issues with folic acid absorption can run in families. Infants with this issue need treatment immediately to avoid long- term problems.

Although symptoms vary from person to person, some symptoms may include:

• Fatigue and lack of energy
• Feeling short of breath
• Headaches
• Pale Skin
• Decreased appetite
• Irritability
• Diarrhea
• Smooth and tender tongue

Many folate deficiency symptoms may be similar to other blood conditions making prompt and accurate diagnosis difficult. It is important to receive a proper diagnose from a healthcare provider.

A physician will order blood tests and a complete blood count test to measure the number and size of the red blood cells. If there is folic acid deficiency, there will be low counts of red blood cells and/or large and immature blood cells.

The primary goal of treatment is to increase the body's folic acid level. The most common recommend treatment is taking folic acid tablets daily until the deficiency is neutralized. However, if the folic acid level is too low, a doctor may recommend receiving folic acid intravenously. In addition to taking the supplements, doctors will also recommend eating foods that are high in folic acid such as spinach, leafy greens, oranges, and pinto beans.

Folic acid deficiency is especially dangerous in pregnant women because not only are they more susceptible to the condition but folate deficiency can result in harmful or fatal consequences for the baby.

Having proper levels of folic acid is crucial before and during pregnancy. It can reduce the risk of certain neural tube birth defects such as spinal bifida and anencephaly. Each year, there are about 4,000 pregnancies that are affected by spina bifida or anencephaly. Fifty to seventy percent of these cases can be prevented if expecting mothers consumed at least 400 micrograms of folic acid every day before and during early pregnancy. However, only about 30% of women know that a lack of folic acid before and during pregnancy can cause several neural tube defects on to baby.

In addition to the neural tube defects, infants suffering from folic acid deficiency are at a higher risk for low birth weight, nervous system damage, still birth, brain damage, and heart defects. Healthcare providers have the duty of informing patient about proper prenatal care. Because folic acid deficiency can be avoided with proper vitamin intake, it is crucial for doctors to emphasize the importance of folic acid supplements.

If a fetus is lacking folic acid, there are only few signs that indicate such issue. Often times, the symptoms are recognized after the birth defect has occurred. Some common signs of birth defects resulting from folic acid deficiency are

• An opening in the baby's back exposing the spine and spinal cord
• Paralysis
• Inability control bladder and bowel
• Accumulation of fluid in the brain
• Partially formed brain and spinal cord

Folic Acid Deficiency occurs commonly in newborns and infants as well. Infants require high amounts of folic acid because it helps stimulate DNA replication and cellular growth. Infants who have folic acid deficiency may show signs of dyspnea, heart palpitations, weakness, glossitis, nausea, low body weight, headache, fainting, irritability, pallor and jaundice.

Folic Acid Deficiency - Studies & Research

Chang, S., et al. "The effect of folic acid deficiency on Mest/Peg1 in neural tube defects." International Journal of Neuroscience (2020): 1-10. (This study looked at the mechanics behind folic acid deficiency’s impact on the Mest/Peg1 gene in neural tube defect cases. The researchers found that folic acid increased Mest/Peg1 expression through hypermethylation modification. They also found that it also inhibited Lrp6 gene expression, which might impact nervous system development via Wnt pathway inactivation.)  

Maldonado, E., et al. "Maternal Folic Acid Deficiency Is Associated to Developing Nasal and Palate Malformations in Mice." Nutrients. 13.1. (2021): 251. (This study looked at the association between folic-acid deficient diets and craniofacial abnormalities. The researchers fed this diet to female mice. They found that the mice fetuses experienced several abnormalities including cleft palates, septum malformations, nasopharynx duct shapes, and epithelium and cilia abnormalities. The researchers concluded that this study showed how important maternal folate intake was to embryonic midface craniofacial development.)  

Sendeku, F.W., Azeze, G.G., and Fenta, S.L. "Adherence to iron-folic acid supplementation among pregnant women in Ethiopia: a systematic review and meta-analysis." BMC Pregnancy and Childbirth. 20.1 (2020): 1-9. (This study looked at the factors that affect iron-folic acid supplementation (IFAS) rates among pregnant Ethiopian women. The researchers found that educational status, supplement knowledge, anemia knowledge, current anemia status, early antenatal care registration, and education on IFAS affected IFAS rates in Ethiopia. They concluded that these findings helped design strategic policies that prevent anemia and other conditions related to iron and folic acid deficiencies.)  

Sijilmassi, O., et al. "Multifractal analysis of embryonic eye structures from female mice with dietary folic acid deficiency. Part I: Fractal dimension, lacunarity, divergence, and multifractal spectrum." Chaos, Solitons & Fractals. 138. (2020): 109885. (This study looked at the association between low maternal folic acid status levels and embryonic eye structures in mice. The researchers found that maternal folic acid deficiencies changed eye tissues’ fractal characteristics. They also found significant differences among control and folic acid deficient female mice in the cornea, lens, retinal, and vitreous.)  

Valentin, M., et al. "Acid folic and pregnancy: A mandatory supplementation." Annales d'Endocrinologie. Vol. 79. No. 2. Elsevier Masson, 2018. (This study found that high folic doses prevented the recurrence of neural tube deficits. They also found that lower doses prevented the first neural tube deficit occurrence. The researchers concluded that the public should know of folic acid supplementation’s necessity.)