Down Syndrome Screening: What to Do Next? - Obstetrics and Gynecology

Q: Down Syndrome Screening: What to Do Next?

Hello： In response to your question regarding Down syndrome screening, the current screening is performed through a blood test between the 15th and 20th weeks of pregnancy (ideally between the 16th and 18th weeks). <br>This test measures "α-FP" (alpha-fetoprotein) and "β-HCG" (be

Screening for Down syndrome?

Dr.
Wang: Hello! I have a question to ask you.
I have been undergoing examinations at Cathay since the beginning of my pregnancy.
On August 11, when I was exactly 12 weeks along, I had the nuchal translucency screening and blood tests done.
The nuchal translucency measurement was 2.3 mm, which the doctor said was normal.
However, today, on August 21, I received a notification that my blood test results were elevated and that I need to undergo amniocentesis.
I find it puzzling that the doctor hasn't even reviewed the report yet and is already recommending amniocentesis, which makes me feel uneasy.
Additionally, my colleagues have mentioned that I did the tests too early, which could lead to inaccurate results.
So, I would like to ask Dr.
Wang what I should do now.
I am really worried.

Xiao Hui, 20~29 year old female. Ask Date: 2003/08/21

Dr. Wang Jionglang reply Obstetrics and Gynecology

Hello: In response to your question regarding Down syndrome screening, the current screening is performed through a blood test between the 15th and 20th weeks of pregnancy (ideally between the 16th and 18th weeks).
This test measures "α-FP" (alpha-fetoprotein) and "β-HCG" (beta-human chorionic gonadotropin), and, in conjunction with the mother's age and gestational age, calculates the risk of Down syndrome.
Additionally, an ultrasound examination is conducted primarily to measure the nuchal translucency at the back of the fetus's neck to check for any abnormalities.
As for your blood test at 12 weeks, aside from the routine tests included in the first prenatal visit, some hospitals may also test for "α-FP." If the "α-FP" levels are elevated, there may be concerns about potential neural tube defects in the central nervous system, which can be monitored through follow-up ultrasound scans.
Since you are currently 28 years old and not considered a high-risk pregnancy, you can proceed with the maternal serum screening for Down syndrome once you reach 15 weeks.
Wishing you a healthy and beautiful baby.

Reply Date: 2003/08/21

More Info

Hello! It's understandable to feel anxious when navigating prenatal screening results, especially regarding Down syndrome. Let's break down the situation and discuss what steps you can take moving forward.

Firstly, it’s important to understand the purpose of the tests you underwent. The nuchal translucency (NT) scan, which measures the fluid at the back of the baby's neck, is typically performed between 11 and 14 weeks of pregnancy. A measurement of 2.3 mm is generally considered normal, as the typical range is up to 3.5 mm. However, the NT scan is just one part of a combined screening process that also includes blood tests to assess the risk of chromosomal abnormalities, including Down syndrome.

The blood test you had is likely a part of the first-trimester screening, which looks for specific markers in your blood that can indicate an increased risk for Down syndrome and other conditions. If your blood test results came back with elevated markers, it can lead to a higher risk assessment, prompting your healthcare provider to recommend further testing, such as amniocentesis.

Amniocentesis is a diagnostic procedure that involves taking a small sample of amniotic fluid surrounding the baby to test for genetic conditions. While it is a more definitive test than the screening tests, it does carry some risks, including a small chance of miscarriage. Therefore, it is usually recommended when there is a significant concern based on screening results.

Your feelings of confusion and concern are valid, especially since it seems that the doctor recommended amniocentesis based on preliminary blood test results without a full review of your case. It’s crucial to have clear communication with your healthcare provider. Here are some steps you can take:
1. Request a Follow-Up Appointment: Schedule a time to discuss your results in detail with your doctor. Ask them to explain the reasoning behind the recommendation for amniocentesis and how they interpreted your blood test results.

2. Ask Questions: Prepare a list of questions to ensure you cover all your concerns. For example, you might ask:
- What specific markers were elevated in my blood test?
- How do these results correlate with the NT scan?
- What are the risks and benefits of proceeding with amniocentesis?
- Are there alternative options available for further testing?
3. Consider a Second Opinion: If you still feel uneasy after your discussion, seeking a second opinion from another obstetrician or a maternal-fetal medicine specialist can provide additional insights and help you feel more confident in your decision-making.

4. Take Your Time: If possible, don’t rush into the decision for amniocentesis. It’s essential to feel comfortable and informed about your choices. You can ask if there are other non-invasive options available, such as non-invasive prenatal testing (NIPT), which analyzes fetal DNA in your blood and can provide information about the risk of Down syndrome with a lower risk of complications compared to amniocentesis.

5. Support: Don’t hesitate to reach out to support groups or counseling services for expectant parents facing similar concerns. Sharing experiences with others can provide emotional support and help you feel less isolated during this time.

In conclusion, while the recommendation for amniocentesis may seem premature without a thorough review of your results, it is essential to engage in open dialogue with your healthcare provider. By asking questions and seeking clarity, you can make an informed decision that aligns with your values and concerns. Remember, you are not alone in this journey, and there are resources available to support you. Wishing you the best as you navigate this process!

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