Amniocentesis: Understanding the risk, benefits, and timing

• Amniocentesis is when a doctor uses a long needle to penetrate the amniotic sac and remove a sample of fluid.
• Amniocentesis is used to understand if the baby is at risk of a defect.
• Risk of miscarriage is below 1%, only marginally higher than a normal pregnancy.

During amniocentesis, your healthcare provider takes a sample of your amniotic fluid to gather information about the health of your baby. The sample is removed using a fine needle and with the assistance of ultrasound.

An amniocentesis can help diagnose a variety of conditions, but is it a necessary diagnostic test for all pregnant women? What are the potential benefits or risks associated with the procedure?

Why is an amniocentesis performed?

This prenatal test is commonly performed to determine if there is a risk your baby has a genetic disorder, chromosome abnormality or neural tube defect.
These conditions include:

• Spina bifida
• Cystic fibrosis
• Down Syndrome: aka Trisomy 21

The test is usually performed in the second trimester, it can also be performed in late pregnancy to diagnose other problems, including:

• Infections
• Lung maturity
• Rh disease: blood type incompatibility problems

Reasons to consider amniocentesis

Your doctor may recommend the procedure if you are at an increased risk for bearing a child with birth defects or chromosome abnormalities. This includes women who:

• Are over the age of 35
• Have a family history of a specific genetic disease, metabolic or chromosomal disorder
• Have a partner who is a carrier of a genetic condition
• Had positive results from another prenatal screening test
• Had a previous child or pregnancy with a birth defect

What are the benefits of amniocentesis?

The primary benefit of this procedure is to validate the diagnosis of an abnormality that has been found with another prenatal test. It is also possible for amniocentesis to show that your baby does not have an abnormality that was initially suspected. In either circumstance, this prenatal test allows you to consider all options available to you and plan the rest of your pregnancy.

Are there any risks involved?

Women who have had an amniocentesis may experience leaking of amniotic fluid, cramping or bleeding. In rare cases, an infection may occur. The risk of miscarriage is also increased. According to Johns Hopkins Medicine, this risk is less than 1 percent and is only marginally higher than the typical risk of miscarriage associated with women who are in their second trimester of pregnancy. If you are considering amniocentesis, discuss your questions and concerns with your doctor.

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Sources : 
•    American Pregnancy Association
•    Johns Hopkins Medicine https://www.hopkinsmedicine.org/health/treatment-tests-and-therapies/amniocentesis
•    Amniocentesis Procedure. Yale School of Medicine