Neural Tube Defect Risks in Down Syndrome Screening - Obstetrics and Gynecology

Share to:

Down syndrome screening - Neural tube defects


Doctor, I apologize for bothering you, but I would like to inquire about the risk value of neural tube defects being 1 in 565.
Is this a reference value? Additionally, the fetal alpha-fetoprotein level is 2.12, and the doctor mentioned that I am at high risk and need to undergo a high-level ultrasound, but I have to wait.
I am very worried right now.
I am a carrier of hepatitis B, and I am concerned about my baby.
Could you please tell me if the probability of my baby having a neural tube defect is very high?

Luò lí, 20~29 year old female. Ask Date: 2022/11/12

Dr. Cao Guotao reply Obstetrics and Gynecology


Hello, a blood test is just a preliminary assessment; a high-level ultrasound is necessary to determine if there are any issues.
Generally, the likelihood of problems is low.
Wishing you good health.

Reply Date: 2022/11/12

More Info


When it comes to understanding the risks of neural tube defects (NTDs) in the context of Down syndrome screening, it's important to clarify a few key points. The risk value of 1:565 indicates that, based on the screening tests, there is a 1 in 565 chance of the fetus having a neural tube defect. This is considered a higher risk compared to the general population, where the baseline risk is typically lower, around 1 in 1,000 to 1 in 2,000, depending on various factors including maternal age and family history.

The presence of elevated levels of certain markers, such as alpha-fetoprotein (AFP) and other proteins in the maternal serum, can indicate an increased risk for NTDs. In your case, the reported value of 2.12 for the fetal protein could suggest an abnormality, prompting your physician to recommend a high-level ultrasound for further evaluation. This type of ultrasound is more detailed and can help visualize the fetal anatomy, including the spine and brain, to check for any signs of neural tube defects or other abnormalities.

Regarding your concern about being a hepatitis B carrier, it is understandable to be worried about the health of your baby. However, having hepatitis B does not directly increase the risk of neural tube defects. The primary risk factors for NTDs include maternal diabetes, obesity, certain medications, and nutritional deficiencies, particularly a lack of folic acid before and during early pregnancy. It is crucial to ensure that you are taking adequate prenatal vitamins, especially those containing folic acid, as this can significantly reduce the risk of NTDs.

While the risk of neural tube defects is indeed elevated in your case, it is essential to remember that many pregnancies with elevated screening results can still result in healthy babies. The high-level ultrasound will provide more information and help determine if any further testing, such as amniocentesis, is necessary. This procedure can provide definitive information about genetic conditions and other abnormalities.

In summary, while the risk of neural tube defects in your pregnancy is higher than average, it is not an absolute indication that your baby will be affected. The follow-up ultrasound will be crucial in assessing the situation further. It's also important to maintain open communication with your healthcare provider, who can guide you through this process and address any concerns you may have. Additionally, consider discussing your hepatitis B status with your doctor to ensure that both you and your baby receive appropriate care and monitoring throughout the pregnancy.

Similar Q&A

Understanding Neural Tube Defects: Risks, Testing, and Child Health

Hello, doctor. My wife had a blood test for Down syndrome screening during her first pregnancy, and the screening included a risk value for "neural tube defects," which was found to be 1 in 27, clearly abnormal. A high-level ultrasound was performed, and the doctor did ...


Dr. Dong Yuhong reply Obstetrics and Gynecology
Hello: If you have related concerns, you can seek relevant examinations. However, there is currently no direct causal relationship between having an extra vertebra, bone cancer, and the values from screening tests. Thank you!

[Read More] Understanding Neural Tube Defects: Risks, Testing, and Child Health


Understanding Neural Tube Defects: Risks and Ultrasound Insights During Pregnancy

Hello, I underwent maternal blood screening for Down syndrome when I was 17 weeks pregnant. The doctor mentioned that the test primarily checks for two conditions: one is Down syndrome, and the other assesses whether the baby may have neural abnormalities. The doctor said that th...


Dr. Li Guanghan reply Obstetrics and Gynecology
Hello: If the maternal blood screening indicates a higher probability of neural tube defects, an amniocentesis or a high-level ultrasound examination should be performed. If further testing shows no abnormalities, there is no need for excessive concern. Hsinchu Hospital, Departme...

[Read More] Understanding Neural Tube Defects: Risks and Ultrasound Insights During Pregnancy


Essential Prenatal Screening: Understanding Tests for Down Syndrome and More

Hello, doctor! I have several questions. 1. If I undergo a quadruple marker screening for Down syndrome (which can detect neural tube defects), should I also test for spinal muscular atrophy? 2. What is the risk of miscarriage associated with amniocentesis, and what are the other...


Dr. Zhong Yipei reply Obstetrics and Gynecology
Hello: Your questions are answered as follows: 1. The quadruple marker screening for Down syndrome (which can detect neural tube defects) and spinal muscular atrophy are different tests and cannot replace each other. 2. Amniocentesis has approximately a 0.5% risk of causing misca...

[Read More] Essential Prenatal Screening: Understanding Tests for Down Syndrome and More


Understanding Down Syndrome Screening: Key Considerations for Expecting Mothers

Hello Doctor: I am currently 20 weeks pregnant and last week I received the maternal serum screening report for Down syndrome, which showed a risk of 1 in 1000. During a previous ultrasound, I asked the doctor to check the nuchal translucency, and the doctor reported it to be abo...


Dr. Lü Lizheng reply Obstetrics and Gynecology
I later discovered that my cousin had a baby with Down syndrome when she was 33 or 34 years old, which made me very concerned about whether I might be in a high-risk group. [Most cases of Down syndrome are caused by mutations, and only a very small percentage are due to hereditar...

[Read More] Understanding Down Syndrome Screening: Key Considerations for Expecting Mothers


Related FAQ

Neural Tube Defects

(Obstetrics and Gynecology)

Down Syndrome

(Obstetrics and Gynecology)

High-Risk Pregnancy

(Obstetrics and Gynecology)

Conception

(Obstetrics and Gynecology)

Sexually Transmitted Disease

(Obstetrics and Gynecology)

Umbilical Cord Blood

(Obstetrics and Gynecology)

Menstrual Abnormalities

(Obstetrics and Gynecology)

Prenatal Check-Up

(Obstetrics and Gynecology)

Due Date

(Obstetrics and Gynecology)

Spontaneous Miscarriage

(Obstetrics and Gynecology)