High Neural Tube Defect Index During Pregnancy

The neural tube defect index is excessively high?

During pregnancy, if tests for Down syndrome and neural tube defects show elevated risk levels, can a routine ultrasound during the 16th week of gestation detect any brain or spinal cord issues in the fetus? Also, is fetal movement present at this stage?

Xiao Lin, 30~39 year old female. Ask Date: 2013/08/16

Dr. Cao Guotao reply Obstetrics and Gynecology

Hello, the results for the neural tube defect index are elevated, and an ultrasound scan should be performed to check for any issues with the neural tube (brain and spine).
Generally, significant defects should be detectable, and anencephaly can definitely be identified.
As for fetal movement, if this is the second pregnancy, it should be noticeable around 16 weeks.
Wishing you good health.
Sincerely, Dr.
Tsao Kuo-Tao, Director of the Department of Obstetrics and Gynecology, Taipei Hospital, Ministry of Health and Welfare.

Reply Date: 2013/08/16

More Info

During pregnancy, the concern about neural tube defects (NTDs) and conditions like Down syndrome is quite common, especially when screening results indicate a higher risk. Understanding the implications of these results and the subsequent steps is crucial for expectant parents.

Neural tube defects are serious congenital anomalies that occur when the neural tube, which eventually develops into the brain and spinal cord, fails to close completely during the early stages of fetal development. This can lead to conditions such as spina bifida or anencephaly. The incidence of NTDs is approximately 1 in 1,000 births, but certain factors, including maternal health, nutritional status, and genetic predispositions, can influence this risk.

When a screening test indicates a high risk for NTDs, it is essential to follow up with more definitive diagnostic tests. While standard ultrasounds can provide valuable information about fetal anatomy, they may not always detect subtle defects, especially in the early stages of pregnancy. A high-level ultrasound, or targeted ultrasound, is more detailed and can help visualize the fetal spine and brain more clearly. This type of ultrasound is typically performed between 18 to 20 weeks of gestation, but it can be done earlier if there are specific concerns.

Regarding fetal movement, it is generally expected that fetal movements may begin to be felt by the mother around 18 to 20 weeks of gestation, although some women may notice them earlier. However, the presence or absence of fetal movement does not directly correlate with the presence of neural tube defects. It is important to note that even if a fetus has an NTD, it may still exhibit normal movements.

If the initial screening results are concerning, healthcare providers often recommend additional testing, such as amniocentesis, which can provide more definitive information about the fetus's genetic makeup and the presence of certain conditions. However, this procedure does carry a small risk of miscarriage (approximately 1 in 1,000), and the decision to proceed should be made after careful consideration and discussion with a healthcare provider.

In terms of managing anxiety and concerns during this time, it is vital to maintain open communication with your healthcare team. They can provide reassurance, additional information, and support throughout the process. Additionally, ensuring adequate folic acid intake before and during pregnancy is known to reduce the risk of NTDs, so discussing nutritional strategies with a healthcare provider can also be beneficial.

In summary, while high-risk screening results can be alarming, they are not definitive diagnoses. Follow-up with high-level ultrasounds and possibly genetic testing can provide clarity. It is essential to stay informed, seek support, and maintain regular prenatal care to ensure the best possible outcomes for both the mother and the baby.

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