Each year, 300,000 babies are born with Neural Tube Defects (NTDs) worldwide*1. NTDs are brain and spinal cord developmental defects that happen during early fetal development. Most of these cases are preventable, and Folic Acid (FA) plays a critical role.
What is Folic Acid?
Folic Acid, or FA, is the synthetic form of Folate, the natural form of Vitamin B9. Folate is essential for cell production and growth, DNA formation, and supporting functions of the nervous and immune system. Folate is important for producing and maintaining red blood cells, so a deficiency can cause anemia. FA deficiency can also lead to a higher risk of depression, memory problems, fatigue and loss of appetite. Alcohol abuse, frequent use of antibiotics, diuretics and oral contraceptives, as well as poor diet and smoking can deplete the body’s folate stores. Although the human body needs folate, it cannot produce it and must receive it from foods and dietary supplements. Folate can be found naturally in dark leafy vegetables such as spinach, brussel sprouts and lettuce, as well as in lentils, oranges, milk and whole wheat bread.
What is Folic Acid’s role in pregnancy?
Folate is critically important during pregnancy as it reduces the risk of premature birth. It is also essential for spinal cord growth; a Folate deficiency could lead to severe fetal defects and complications, such as miscarriage or low birth weight. Due to its critical role in fetal development, FA is found in most prenatal vitamins or as a supplement by itself. It is recommended that pregnant women should consume folate-rich foods and take appropriate amounts of FA supplements under the direction of their physician.
What causes NTDs and what role does FA play?
FA is essential for neural tube development and closure, which happens by the 28thday of conception. The neural tube is a structure from which both the brain and the spinal cord will subsequently form. If neural tube fails to close, the embryo develops an NTD.
What are some common NTDs?
A common NTD of the brain is anencephaly, a serious birth defect in which part of the brain may be missing. Sadly, babies born with anencephaly do not survive past infancy. Spina Bifida is a birth defect in which the baby’s spinal column does not properly close during development, leaving the spinal cord exposed. Children with Spina Bifida have mobility and skin problems, and will need surgical interventions.
How can FA prevent NTDs?
To prevent NTDs from occurring, it is essential that pregnant women should take FA supplements during the first 4 weeks following conception when the brain and spine develop. Since a lot of women might not be aware of their pregnancy at that stage, it is recommended that all women who are planning to get pregnant take FA supplements. There are no side effects for taking FA for a lengthy period of time; in fact, research has shown that taking FA for at least 12 months before becoming pregnant could reduce the risk of premature birth by over 50%*2. Additionally, there is conclusive evidence that adequate consumption of FA during pregnancy can significantly reduce NTD occurrence. Studies have shown that 400μg of FA prevents the occurrence of over 50% of NTDs if it is taken before conception and throughout the first trimester of pregnancy*3. Several countries such as the United States, Canada, China and South Africa have launched a mandatory FA fortification of dietary foods such as staple cereal grains, bread, pasta and flour among others. A study examining the results of FDA-required fortification in the United States from 1995-2011 has reported that the birth prevalence of NTDs has decreased by 35% since FA fortification was introduced in 1998*4.
What is the recommended amount of FA supplement?
Several prominent health organizations, such as the CDC, recommend a daily amount of 400μgof FA to be consumed by pregnant women or women wishing to become pregnant. If there is a family history of a NTD, the recommended daily amount increases to 4000μg.
Always discuss with your healthcare provider the right supplements and dosage for you.
*1 Christianson A.L. et al. (2006) ‘Global report on birth defects: the hidden toll of dying and disabled children’. White Plains (NY): March of Dimes Birth Defects Foundation.
*2 Callaway L., et al. (2009) ‘Folic Acid supplementation and spontaneous preterm birth: Adding grist to the mill?’ Plos Medicine 6(5): e10000077
*3Centers for Disease Control and Prevention. (1992) ‘Recommendations for the use of folic acid to reduce the number of cases of Spina Bifida and other neural tube defects’. MMWR. 41: 1-8.
*4 CDC (2015) ‘Updated Estimates of Neural Tube Defects Prevented by Mandatory Folic Acid Fortification – United States, 1995-2011’. MMWR Morbidity and Mortality Weekly Report. 64(01); 1-5.
Throughout pregnancy there is a wish that is universally shared by all prospective parents –to learn that their baby is healthy. Along with the other tests and medical appointments to evaluate the pregnancy and the fetus’s health, growth and development, non-invasive prenatal testing (NIPT) has become a standard part of prenatal care in the past few years. NIPT is a blood test taken by a pregnant woman to check for genetic conditions of the fetus before birth. Despite its recent introduction, NIPT has been widely adopted by the medical community and is routinely requested by prospective parents in addition to traditional screening. Why was there a need for yet another screening test, and how does NIPT differ from the other screening tests that are already established in clinical practice?
To start with, let’s examine the term screening tests. A screening test lets the patient know if there is an increased risk of having the tested condition, and the results are provided in terms of possibilities or risk scores. Whereas, a diagnostic test —such as amniocentesis– provides a verdict on whether or not the patient has the condition tested. The results are definite; a diagnosis is made. Why then opt for a screening test instead of a diagnostic test? In the majority of cases, a screening test can be performed earlier during the pregnancy and is safer than a diagnostic test. As such, it is the ‘first step’ of the diagnostic journey, as only patients who are reported as ‘high risk’ on their screening tests would have to undergo invasive diagnostic tests.
The 1stand 2ndtrimester screening tests include biochemical screening and ultrasound exams. These take place during 11-13 weeks of gestation and in weeks 15-20, and are the routinely established clinical tests to assess certain developmental milestones of the baby. The physician takes into account the fetus’s measurements, the pregnant woman’s hormonal levels and a set of variables such as age, weight or smoking factors to determine if there is an increased risk of the baby having one or more of the conditions tested. If the risk estimated is high, further testing in the form of diagnostic procedures –Chorionic Villus Sampling (CVS) or Amniocentesis– will be recommended by the physician to provide a definite diagnosis. Both of these are characterized as ‘invasive’, as they require inserting a needle through the abdomen into the placenta or the amniotic fluid to collect a sample. Critically, both carry a small risk of pregnancy loss so a lot of prospective parents struggle with the choice to continue with further testing.
The need for NIPT arises because the 1stand 2ndtrimester traditional screening tests rely on statistical formulas that are not patient-specific and a large number of patients end up having to unnecessarily undergo highly stressful and potentially dangerous procedures. Evidently, the basic principle of the ‘screening test’–to be able to test and accurately refer ‘high-risk’ patients for further testing– is not fully met by traditional measures. This leaves a crucial need for a more precise and sensitive screening method to be introduced in clinical practice to increase detection of genetic conditions. This need is addressed by the introduction of NIPTs.
With NIPT, genetic material (DNA) from the baby’s placenta, known as cell-free fetal DNA (cffDNA) can be extracted from the mother’s blood and examined. NIPT involves the use of specialized equipment and software, which analyze the baby’s DNA safely, accurately and affordably as early as the 10thweek of pregnancy. Results are sent to the patients’ healthcare providers within a few working days. Thus, physicians and parents-to-be can learn earlier in the pregnancy if there is an increased possibility of the baby having a genetic disorder. If NIPT results are positive, the patient’s physician will recommend the next steps, taking other clinical findings also into consideration.
The role between traditional screening tests already established in clinical practice and NIPT is synergistic rather than antagonistic. Routine screening tests are routine for a reason –they work. However, the accuracy and sensitivity of traditional prenatal screening can be improved. NIPTs offer more accuracy and have the capacity to test for more conditions, giving patients the information they need to know about the health of their baby. In traditional prenatal screening, age is the biggest factor when it comes to calculating a patient’s risk –the higher the patient’s age, the higher the risk is that the baby has a genetic condition. This reasoning is true for Down syndrome, one of the most common genetic disorders. However, age isn’t the only variable and a lot of younger pregnant women tend to go undiagnosed if they only undergo traditional prenatal screening. Moreover, there are a lot of conditions that are independent of maternal age that NIPT can screen for, such as microdeletions or single gene diseases. These conditions occur randomly and currently cannot be screened by traditional tests. It is therefore critical for all pregnant women to have an NIPT as it provides them with a lot of information they would not otherwise have had, had they only undergone standard prenatal screening.
NIPT is not just another screening test. NIPT gives parents the chance to know their baby without any risk to the pregnancy. NIPTs very high level of accuracy greatly improves prenatal screening. This means that even though pregnant women will still be referred for invasive procedures, those who do not need it will avoid the unnecessary risk exposure. The most important benefit NIPT offers to prospective parents is reassurance and time. Time that allows them to think, reflect and evaluate their choices; to gather all necessary information, decide on their future and manage their clinical care based on informed decisions.
Medical results should always be discussed with your healthcare providers.
For more information on what conditions our NIPT tests, VERACITY and VERAgene, can detect; please visit the tabs ‘VERACITY’ and ‘VERAgene’ on our website at www.nipd.com