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Amniocentesis is a test done on pregnant women to check the health of the baby. It involves taking a small sample of the amniotic fluid, the liquid around the baby. This fluid has material like fetal cells that can provide important information about the baby’s condition.
Fetuses grow in the uterus, specifically in the amniotic sac, filled with a liquid called amniotic fluid. The amniotic fluid surrounds the fetus as it grows, and it also allows the fetus to move and breathe.
During amniocentesis, the doctor uses a needle to take a sample of amniotic fluid to study it for signs of birth defects since the fluid can contain some of the baby’s cells.1 It’s also considered less risky than getting DNA samples directly from the fetus, which is why some people prefer it.
Amniocentesis is usually used to diagnose genetic birth defects. This means it can be useful if you have a high risk of having a child with a genetic condition. You might be at high risk if you:2
Not all pregnant women need to get an amniocentesis. However, your doctor could recommend one or more genetic testing methods if you meet one or more risk factors or had a similarly complex previous pregnancy.
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Amniocentesis is usually performed to diagnose genetic disorders. The common genetic conditions that it tests for are:3
Healthy humans have two copies of each chromosome. People with three copies of certain chromosomes have these conditions.
Because amniotic fluid contains parts of the fetus’ DNA, amniocentesis allows a doctor to look at fetal DNA in the fluid to see how many of each chromosome the fetus has.3
Amniocentesis can also diagnose cystic fibrosis, neural tube defects, sickle cell disease, and other fetal abnormalities and genetic conditions.1,2
Amniocentesis is a versatile procedure and can be performed for many different reasons. Some of the most common ones are:1
You should wait until at least week 15 of your pregnancy to have an amniocentesis.
Before 15 weeks of pregnancy, there is a greater risk of complications.1 This invasive procedure is usually performed between 15 and 20 weeks of pregnancy.3
Amniocentesis is an outpatient procedure, meaning you will not need to stay at the hospital overnight when you have one. The steps involved in amniocentesis are the following:1
Amniocentesis is generally considered to be a safe procedure. However, remember that any medical procedure will have risks associated with it.
There is a low risk of miscarriage as a result of amniocentesis. This risk can be less than 1% if you have no other risk factors for miscarriage.
Some diseases, like HIV, can be transferred from the parent to the child during amniocentesis. If you have HIV, you should start taking antiretroviral drugs before undergoing amniocentesis. Reducing the viral load through medication lowers the risk of transmission to the fetus.
If you are taking blood thinners, you should stop taking them for two to three days before the procedure. Your doctor might need to temporarily alter your prescription if you take blood thinners and require amniocentesis.1
Other possible complications of amniocentesis include:4
Positive amniocentesis results mean your child will be born with a genetic or chromosomal condition.
Usually, this indicates Down Syndrome, Edward Syndrome, or Patau Syndrome. These are all conditions caused by extra copies of certain chromosomes.1
While receiving positive amniocentesis results can be difficult, it can also prompt early meetings with relevant experts. Disability experts, geneticists, and others can help you interpret your results, what they mean for you and your child, and how to best manage the pregnancy going forward.
This can mean making arrangements to properly accommodate the child or the decision to terminate the pregnancy.1,3
Amniocentesis is just one of many possible prenatal tests that can tell you more about the fetus’s health. Chorionic Villus Sampling (CVS) and non-invasive prenatal testing (NIPT) are also commonly performed. Here are some alternatives to amniocentesis that can also double as genetic tests.
Like amniocentesis, CVS is an invasive procedure that can diagnose genetic conditions.
Instead of taking a sample of the amniotic fluid, CVS involves taking a sample of the placenta, also located in the amniotic sac.
CVS tests for similar genetic conditions as amniocentesis but can be performed earlier. While amniocentesis is done during week 15 of the pregnancy at the earliest, CVS is usually performed from 11 to 14 weeks.
CVS can be performed by piercing the abdomen with a needle line in amniocentesis. It can also be performed by inserting a tube through the cervix.5
Unlike amniocentesis, NIPT is a non-invasive test.
Instead of examining the amniotic fluid, NIPT only requires taking a sample of your (the mother’s) blood. When you are pregnant, your blood will contain bits of DNA from the fetus, which can be analyzed. These blood cells may be able to tell you about potential genetic disorders.6
Amniocentesis is a diagnostic test, which means that it can tell you whether or not the fetus has a particular condition. In contrast, NIPT is a screening test that can only tell you about the risk the fetus will be affected by a condition.
Instead of a positive or negative result, NIPT can tell you if the fetus has an increased risk of being affected by a genetic disease. A high-risk result does not mean a genetic disorder is certain and will require further testing to confirm.6,7
Ultrasound is essential for monitoring the health of the fetus during pregnancy. It can even detect potential genetic disorders by looking at the amount of fluid behind the neck of the fetus.
However, when it comes to genetic disorders like Down syndrome, ultrasound findings are not definitive. Further tests like amniocentesis will be necessary to diagnose the condition.8,9
Amniocentesis is extremely accurate when it comes to diagnosing Down Syndrome. An amniocentesis result will be accurate almost 100% of the time. However, not all genetic disorders can be detected by amniocentesis.1
Amniocentesis can cost around $4,000. However, this price varies greatly depending on location and insurance coverage.10
After amniocentesis, you will be monitored for some time.
When recovering from an amniocentesis, you can experience some cramping, similar to menstrual cramps, and light vaginal bleeding or spotting. These are normal and should resolve a few hours after the procedure.
You can take paracetamol to help with the pain, but ibuprofen or aspirin should be avoided.3
After amniocentesis, keep an eye out for vaginal bleeding, severe pain, fever, or leaking vaginal fluid, as amniotic fluid can leak from the vagina after amniocentesis. If you experience any of these, be sure to consult your doctor.1
Remember to monitor how you feel after the procedure to minimize the risk of pregnancy loss. Keeping your healthcare provider in the loop is also important.
No, bed rest is not necessary after amniocentesis.
Generally, you should be able to go about your day normally, but it is best to avoid strenuous physical activity for the rest of your day after the procedure.1
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