Down Syndrome Screening Results: What Pregnant Women Should Know

Q: Down Syndrome Screening Results: What Pregnant Women Should Know

Hello： The Down syndrome screening index serves as a reference, with an accuracy rate of only about 60-70%. <br>There are still a few cases that may be missed, resulting in the birth of a child with Down syndrome. <br>If you have concerns, you may opt for a high-level ultrasound.

Report on Down Syndrome

Dear Dr.
Lu,
I had a blood test for Down syndrome screening at 15 weeks and 6 days of pregnancy, and the ultrasound showed I was at 15 weeks and 1 day.
My weight is 48.2 kg and my height is 150 cm.
During my 19-week check-up, the report indicated a Down syndrome risk ratio of 1:3637, which the doctor said is considered low risk.
After returning home, I found more information online and wanted to ask: since the Down syndrome risk ratio is 1:3637 and the doctor said it is low risk, I should not need to undergo amniocentesis, correct? The doctor did not mention anything about neural tube defects, only the Down syndrome results, and I am unsure whether I should ask about that or not.

Could you please clarify if pregnant women should inquire about these aspects during check-ups? I have seen online that besides neural tube defects, there are also concerns about AFP levels and other factors.
Do doctors typically inform patients about the Down syndrome risk ratio, and can I feel reassured about everything else? Thank you.

Xiao Yu, 30~39 year old female. Ask Date: 2005/06/29

Dr. Lü Lizheng reply Obstetrics and Gynecology

Hello: The Down syndrome screening index serves as a reference, with an accuracy rate of only about 60-70%.
There are still a few cases that may be missed, resulting in the birth of a child with Down syndrome.
If you have concerns, you may opt for a high-level ultrasound.
If everything appears normal, amniocentesis is generally not necessary.
If the neural tube defect index is elevated, the physician should inform you, and you can also proactively inquire about it.
Sincerely, Dr.
Li-Cheng Lu, Obstetrics and Gynecology.

Reply Date: 2005/06/29

More Info

Understanding Down Syndrome Screening Results: What Pregnant Women Should Know
Congratulations on your pregnancy! It’s completely normal to have questions and concerns about screening results, especially regarding conditions like Down syndrome and neural tube defects. Let’s break down your situation and clarify what you should know.

Understanding Your Screening Results
You mentioned that your Down syndrome screening result was 1:3637, which your doctor classified as a low-risk value. This means that for every 3637 pregnancies with similar characteristics, only one is expected to have a baby with Down syndrome. Generally, a risk ratio of 1:270 or lower is considered high risk, so your result is reassuring.

Should You Consider Amniocentesis?
Amniocentesis is an invasive procedure that carries a small risk of miscarriage (about 1 in 300 to 1 in 500). It is typically recommended for women who are at higher risk for chromosomal abnormalities, such as those with a screening result of 1:270 or lower. Since your result is 1:3637, the recommendation for amniocentesis may not be necessary unless there are other risk factors or concerns. However, it’s essential to have a conversation with your healthcare provider about your specific situation and any additional factors that might influence the decision.

Neural Tube Defects and Other Concerns
You also mentioned concerns about neural tube defects (NTDs) and the AFP (alpha-fetoprotein) levels. The AFP test is often part of the screening for NTDs and can indicate the risk of conditions such as spina bifida or anencephaly. If your doctor did not mention the AFP results, it’s a good idea to ask about them during your next appointment. Elevated AFP levels can indicate a higher risk for NTDs, while low levels can sometimes indicate an increased risk for Down syndrome.

What Questions Should You Ask Your Doctor?
When you go for your next appointment, consider asking the following questions:
1. What are my AFP levels, and how do they relate to my risk for neural tube defects?
2. Are there any other tests or screenings I should consider based on my results?
3. What are the next steps if I want to pursue further testing?
4. What lifestyle changes or supplements (like folic acid) should I consider to support a healthy pregnancy?
5. Are there any signs or symptoms I should be particularly aware of during my pregnancy?

Importance of Open Communication
It’s crucial to maintain open communication with your healthcare provider. They are there to help guide you through your pregnancy and address any concerns you may have. If you feel uncertain about any aspect of your care or your baby's health, don’t hesitate to ask questions or seek clarification.

Conclusion
In summary, your Down syndrome screening result of 1:3637 is reassuring and typically does not warrant invasive testing like amniocentesis. However, it’s essential to discuss your AFP levels and any other concerns with your healthcare provider. Remember, being informed and proactive about your health and your baby’s health is vital during this exciting time. Wishing you a healthy and happy pregnancy!

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