Folic Acid Metabolism Gene Testing in Prenatal Care - Obstetrics and Gynecology

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Folic acid metabolism gene testing is an emerging area in prenatal care that has gained attention for its potential implications in maternal and fetal health. This testing focuses on identifying genetic variations that may affect how a person metabolizes folic acid, which is crucial for DNA synthesis and repair, as well as for the proper development of the fetal neural tube.

1. Prevalence of Testing in Taiwan: In Taiwan, the uptake of folic acid metabolism gene testing is relatively low compared to other prenatal screenings. While there is a growing awareness of the importance of genetic testing, many healthcare facilities may not yet offer this specific test due to various factors, including cost, availability of technology, and the need for specialized interpretation of results. As prenatal care evolves, it is likely that more clinics will begin to incorporate such tests into their offerings.

2. Prevalence of Genetic Variations: The prevalence of folic acid metabolism gene abnormalities in the Taiwanese population is considered low. However, certain genetic polymorphisms, such as those in the MTHFR gene, can affect folate metabolism and may increase the risk of neural tube defects (NTDs) in offspring. Understanding the frequency of these variations can help in assessing the risk for families with a history of NTDs or other related conditions.

3. Timing of Testing During Pregnancy: At 13 weeks of pregnancy, the critical period for neural tube development has already passed, as this typically occurs within the first month of gestation. Therefore, the significance of conducting folic acid metabolism gene testing at this stage may be limited. However, it can still provide valuable information for future pregnancies, especially for women who may have a family history of folate-related issues or for those who are planning to conceive again.
In terms of folic acid supplementation, it is generally recommended that women of childbearing age take folic acid before and during early pregnancy to reduce the risk of NTDs. The standard recommendation is 400 micrograms of folic acid daily, but women with a history of NTDs or those with specific genetic mutations may require higher doses, as advised by their healthcare provider.

In conclusion, while folic acid metabolism gene testing is not widely utilized in Taiwan, it holds potential for understanding individual risks related to folate metabolism. For pregnant women, especially those in their first trimester, the focus should remain on adequate folic acid intake through diet and supplements. If you have concerns about your folic acid levels or genetic predispositions, it is advisable to discuss these with your healthcare provider, who can offer personalized recommendations based on your health history and current pregnancy.