Amniocentesis Test: Risks, Procedure, Results, Cost & More

Amniocentesis Test
Editor's Note: This article has been recently updated with latest information and research studies.
 

What is Amniocentesis?

Amniocentesis is a prenatal test that allows your healthcare practitioner to gather information about your baby’s health. In this test, a sample of fluid is removed from the amniotic sac for analysis. Fetal cells, proteins, and fetal urine freely move within this sac.

Why is Amniocentesis Performed?

Amniocentesis can be done for various reasons:

  • Certain conditions such as Edward’s syndrome, Down’s syndrome, Patau’s syndrome can be tested using genetic amniocentesis, where a sample of amniotic fluid of the mother is tested using the genetic apparatuses.
  • Amniotic fluid is sampled to determine if the baby’s lungs are mature enough or not. This is called maturity amniocentesis.
  • Amniocentesis can be used to detect if there is an infection for the baby or not.
  • It is also used to diagnose or rule out an intrauterine infection.

Amniocentesis is most often offered to women who are at increased risk for bearing a child with birth defects. This includes women who:

  • Will be 35 or older when they give birth.
  • Had a screening test result that shows there may be a birth defect or other problem.
  • Have had babies with birth defects in other pregnancies.
  • Have a family history of genetic disorders.
Amniocentesis

What Defects and Disorder can it Detect?

Amniocentesis is used to detect several disorders such as:

  • Nearly all chromosomal disorders, including Down syndrome, trisomy 13, trisomy 18, and sex chromosome abnormalities. Amniocentesis is more than 99 percent accurate in diagnosing these conditions.
  • Several hundred genetic disorders, such as cystic fibrosis, sickle cell disease, and Tay-Sachs disease. The test is not used to look for all of them, but if your baby is at an increased risk for one or more of these disorders, amniocentesis can usually tell you whether it has the disease.
  • Amniocentesis can also be used to diagnose diseases of musculoskeletal system such especially muscular dystrophy. Muscular dystrophy is a genetic condition that causes muscles to be weak gradually.
  • Amniocentesis can also help diagnose Marfan syndrome. Marfan syndrome is also a genetic condition that affects the musculoskeletal system.
  • Neural tube defects such as spina bifida and anencephaly, which is diagnosed by measuring the level of alpha-fetoprotein (AFP) in the amniotic fluid.

Also ReadTips for Healthy Pregnancy!

When is it Performed?

Usually, Amniocentesis is done between 14th and the 12th weeks. Some medical facilities may perform amniocentesis as early as the eleventh weeks.

Is it Risky?

Amniocentesis has some risks, which include:

  • Needle Injury: While these needles injuries are serious but they are very rare. The movement of the baby during amniocentesis is what causes the injury. The baby’s movement of an arm or leg into the path of the needle is what causes the injury.
  • Miscarriage: Research suggests that the risk of miscarriage is higher for amniocentesis done before 15 weeks of pregnancy. Second-trimester amniocentesis carries a less risk of miscarriage.
  • Infection: Uterine infection is rate during amniocentesis.
  • Leaking Amniotic Fluid: In rare occasions, patients might have some leaks of the amniotic fluid from the vagina. If the leakage continues in a chronic way then some orthopedic problems might arise for the baby.

What happens during Amniocentesis?

A small area of the abdomen is cleansed with an antiseptic to prepare for the amniocentesis. You may receive a local anesthetic to reduce* any discomfort. The doctor first locates the position of the fetus and placenta with an ultrasound. Under ultrasound guidance, the doctor inserts a thin, hollow needle through your abdomen and uterus, and into the amniotic sac, away from the baby. A small amount of fluid is removed through the needle and sent for laboratory analysis.

Can Normal Activities be Resumed?

After an amniocentesis, it is best to go home and relax for the remainder of the day. You should not exercise or perform any strenuous activity, lift anything over 20 pounds and you should avoid sexual relations.

The day after the procedure, you may resume all of your normal activities unless otherwise directed by your doctor.

When will the Results of Amniocentesis be Received?

The results of the amniocentesis are generally available within 2-3 weeks.

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What are the Reasons to Perform the Test or not to Perform the Test?

These reasons may vary from one person to another. These tests will conform the diagnosis and will let you know if your child has or don’t have the disease you are testing for. This can help you to:

  • Follow probable mediations that exist for this disease.
  • You will be more ready for the lifestyle changes.
  • If your child is a special need child then you can plan earlier and you will be more prepared.
  • You can search for the different sources to coup and identify different support groups.
  • Have more time to make a decision about having this child to term.

Some people have various reasons not to test for Amniocentesis such as:

  • Even if Amniocentesis has small risk of harming the baby but some parents won’t even take that risk for their developing baby.
  • Other reasons may include: moral, religious, or personal reasons.
  • No matter what the outcome is, they are happy with the results.

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Author

Expert Author : Fouzia Khan (Consumer Health Digest)

Fouzia Khan is a graduate from University of Lethbridge. She has years of teaching and research experience in Computer Science and Engineering. Apart from teaching she is passionate about conducting research, writing, and sharing new innovations of science with others.