Pregnancy is a very exciting time for you, the expectant mother. However, it is also normal to have some fears and doubts about the health of your unborn baby. During this time, along with the scans and blood tests that the doctor performs, you may also be asked about a test that sometimes has a complicated name. ' Amniocentesis ' is one such test. You may have felt scared when you heard this name. So, let's talk about this very simply today, so that all your questions about it are cleared up.
Simply put, what is amniocentesis?
You know, there is a watery liquid around the baby in the womb. We call this 'amniotic fluid'. This liquid is not just water. It contains the baby's living cells, proteins (for example, alpha-fetoprotein - AFP), and many important things. These can reveal a lot about the baby's health, especially genetic information.
Amniocentesis is a procedure that involves inserting a very thin needle through your abdomen, under the guidance of a scan, and taking a small sample (about a teaspoon) of amniotic fluid. The baby's cells are examined and information about the baby's chromosomes is obtained. Special tests such as `(karyotype test)` and `(FISH test)` can be used for this.
The important thing is that a simple blood test (like NIPT ) only looks at whether the baby is 'at risk' of developing a certain disease. However, an amniocentesis test can definitively diagnose whether a certain birth defect is present or not .
What can be found in this test?
Doctors don't recommend this test for everyone. Because it carries a very small risk, it's only done for mothers who are at high risk of developing genetic conditions. Imagine, a doctor might suggest this test in a situation like this:
- If you notice any abnormalities in a scan or blood test you have had.
- If anyone in your or your husband's family has had genetic diseases or birth defects.
- If you have previously had a child with a birth defect.
- If the results of another genetic test done during this pregnancy are abnormal.
Although amniocentesis cannot detect all birth defects, it can identify the following major genetic conditions .
| Medical condition | A simple explanation |
|---|---|
| Down syndrome | A condition caused by the presence of an extra chromosome. |
| Sickle cell disease | It is a disease caused by a change in the shape of red blood cells. |
| Cystic fibrosis | Production of thick mucus in places like the lungs and digestive system. |
| Muscular dystrophy | It is a disease in which muscles gradually weaken and atrophy. |
| Neural tube defects | A baby's brain and spinal cord not developing properly. For example, spina bifida. |
Also, the scan performed at the same time as this test can sometimes detect other birth defects, such as cleft palate/lip. If you want, this test can also determine the baby's sex with 100% accuracy .
When is this test done?
This test is usually done between 15 and 18 weeks of pregnancy.
How accurate is this?
Amniocentesis is about 99.4% accurate . Very rarely, results may not be available due to technical reasons, such as insufficient fluid being collected.
Risks and options of the test
This is the biggest problem that many people have. In fact, the chance of miscarriage from this test is very small . That is , less than 1% (roughly 1 in 1000) . Apart from that, the chances of things like injury to the mother or baby, infection, etc. are also very rare.
On the other hand, it is also stated that there is a very small chance that the baby will develop a condition called Rhesus disease (where antibodies in the mother's blood destroy the baby's blood cells) or a foot disorder called club foot.
Do you really want to do this? No. This is entirely a decision between you and your husband. Before the test, your doctor or genetic counselor will explain all the pros and cons to you. Then you can make the decision.
Are there other options?
Yes. There is an alternative test called `(chorionic villus sampling - CVS)`. This involves taking a very small sample of the placenta instead of the baby's amniotic fluid. One advantage of the CVS test is that it can be done very early in pregnancy, between 10 and 13 weeks. However, it also carries a small risk. Talk to your doctor to decide which is best for you.
How to perform the test
This process is not as scary as it sounds. The entire process takes about 30 minutes.
1. Preparation: First, a small area of your abdomen will be cleaned with an antiseptic solution. A local anesthetic may be given to the area to reduce pain.
2. The scan: The doctor then uses the scanner to find the exact location of the baby and the placenta.
3. Taking the sample: Then, under the supervision of the scan, a thin needle is very carefully inserted through the abdomen into the uterus, taking a small amount of fluid from the amniotic sac where the baby is.
4. After: After the sample is taken, you will be observed for about an hour to make sure there are no side effects. You may experience some mild cramping, similar to menstrual cramps. This is normal.
Results and what to do next
It usually takes 2 to 3 weeks for the full test results to be available. For some conditions, such as Down syndrome, initial results may be available in a few days.
If the results show any problems, you will have the opportunity to speak with a counselor or doctor to discuss the situation and your options moving forward. Some birth defects (such as spina bifida) can now be treated surgically while the baby is still in the womb.
Rest after the test
It is very important to go home and rest well on the day of the test.
- Don't do any exercise.
- Do not lift anything heavier than 20 pounds (including children).
- Don't have sex.
- If you have any discomfort, you can take paracetamol every 4 hours.
From the next day, unless the doctor gives you other advice, you can return to work as usual.
If you have these symptoms, call your doctor immediately.
- Fever or chills.
- Vaginal discharge of blood or other fluid.
- Frequent uterine contractions (abdominal cramping).
- A stomach ache that is more severe than a normal cramp.
Take-Home Message
- Amniocentesis is a test to determine if the baby has any birth defects.
- This is not a test for everyone. It is only recommended for those who are at higher risk due to specific reasons such as family history or scan reports.
- Although there is a very low risk of miscarriage, it is important to be aware of it.
- The final decision on whether or not to have this test is up to you and your husband.
- Talk to your doctor without hesitation about any fears or doubts you may have.
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