Should You Consider Amniocentesis During Pregnancy?

Q: Should You Consider Amniocentesis During Pregnancy?

Dear Fancle：<br>1. <br>Even at 21 weeks, amniocentesis can still be performed; in fact, with more amniotic fluid, it becomes easier to conduct.<br>2. <br>Most cases of Down syndrome, about 99%, are caused by mutations and are not related to family genetics, so your cousin's secon

Is amniocentesis necessary?

Dear Dr.
Lu,
Hello, I am a pregnant woman currently at 21 weeks and 4 days, undergoing prenatal check-ups with my doctor.
During my first prenatal visit, the doctor performed a nuchal translucency scan and stated that the results were within the normal range.
In my second check-up, my blood test for maternal serum screening showed a risk of 1 in 413 for Down syndrome.
The doctor mentioned that when compared to the first nuchal translucency result, we could multiply by 1/5, which brings the risk down to approximately 1 in 2000.

Last Saturday (February 2), I had a detailed anatomy scan, and all of the baby's organs appeared to be normal, which gave me great peace of mind.
However, yesterday I heard that my cousin's second child underwent amniocentesis and was found to have chromosomal abnormalities, leading to the decision to terminate the pregnancy.
My cousin's wife is currently 37 years old, and their first child was born healthy.
Since they are close relatives, I can't help but feel saddened and worried.
I have researched a lot online and found that there are cases where both nuchal translucency and maternal serum screening results were normal, yet the baby was still born with Down syndrome.

I am very anxious and would like to ask for your advice.
Additionally, since I am already at 21 weeks, is it still possible to undergo amniocentesis? Thank you, Doctor.
Sincerely,
Fancle, an anxious mother

Fancle, 20~29 year old female. Ask Date: 2013/02/07

Dr. Lü Lizheng reply Obstetrics and Gynecology

Dear Fancle:
1.
Even at 21 weeks, amniocentesis can still be performed; in fact, with more amniotic fluid, it becomes easier to conduct.
2.
Most cases of Down syndrome, about 99%, are caused by mutations and are not related to family genetics, so your cousin's second child's condition does not concern you.
3.
Indeed, your risk is very low, approximately 1 in 2,000.
Although the risk is low, it is not zero; on average, one out of every 2,000 pregnant women may be affected.
4.
If you are still concerned, there are new non-invasive prenatal testing methods available on the market, with an accuracy rate of up to 97%, although they tend to be more expensive.
5.
Amniocentesis can also be considered, but it coincides with the holiday season.
If you wish to proceed, you can call to discuss it first.
Wishing you peace and health,
Dr.
Li-Cheng Lu
Director, Department of Obstetrics and Gynecology
Taoyuan Hospital, Ministry of Health and Welfare

Reply Date: 2013/02/07

More Info

Amniocentesis is a prenatal diagnostic procedure that can provide valuable information about the genetic health of a fetus. It involves taking a small sample of amniotic fluid, which contains fetal cells, and analyzing it for chromosomal abnormalities and genetic disorders. Given your current situation at 21 weeks and 4 days of pregnancy, it's understandable that you have concerns about the health of your baby, especially after hearing about your relative's experience.

Based on the information you provided, your initial screenings (nuchal translucency and maternal serum screening) showed normal results, but the maternal serum screening indicated a risk of 1:413 for Down syndrome. While this risk is higher than average, it is still considered a relatively low risk. The nuchal translucency measurement being within normal limits is a positive sign, as it is often used as a marker for potential chromosomal abnormalities.

Amniocentesis is typically offered to women who have an increased risk of chromosomal abnormalities, such as those with abnormal screening results, advanced maternal age, or a family history of genetic disorders. Since you are already in the second trimester, you are within the window for amniocentesis, which is usually performed between 15 and 20 weeks of gestation, but it can be done later if necessary. At 21 weeks, you can still undergo the procedure, and it may provide you with the reassurance you seek regarding your baby's health.

However, it is essential to discuss the potential risks and benefits of amniocentesis with your healthcare provider. While the procedure is generally safe, there is a small risk of complications, such as miscarriage (estimated at about 1 in 300 to 1 in 500 procedures), infection, or injury to the fetus. Your doctor can help you weigh these risks against the benefits of obtaining more definitive information about your baby's genetic health.

If you decide to proceed with amniocentesis, the results typically take about 1-2 weeks to come back. This information can help you make informed decisions about your pregnancy and prepare for any potential outcomes. Additionally, if you are feeling anxious or overwhelmed, consider discussing your feelings with a mental health professional or a support group for expectant mothers. Emotional support can be invaluable during this time.

In summary, amniocentesis can be a useful tool for assessing the genetic health of your fetus, especially given your concerns and the previous family history of chromosomal issues. Since you are within the appropriate gestational age for the procedure, it is advisable to have a thorough discussion with your healthcare provider about your specific situation, the risks and benefits of the procedure, and any other options available to you. Ultimately, the decision should be based on your comfort level and the information you wish to obtain regarding your baby's health.

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