Amniocentesis Testing Explained

By: Laura Evans

One important prenatal screening test is called the amniocentesis test. If your doctor has suggested that you have this test, here's what you need to know.

Amniocentesis Test
Doctors recommend having an amniocentesis after your 15th week of pregnancy if you are concerned about genetic problems. An amniocentesis for mature lungs is usually done after the 36th week. Amniocentesis can test for several health issues in your baby, including-

  • Cystic Fibrosis. Cystic Fibrosis is a progressive disease that affects lungs and the digestive system. This is a hereditary disease.
  • Down Syndrome. Down Syndrome is a condition where a child has 47 chromosomes instead of 46. This leads to a characteristic appearance that can include a below-normal height, almond-shaped eyes and big hands with stubby fingers. The condition also usually results in mild mental retardation.
  • Hemophilia. Hemophilia is a hereditary condition where blood does not clot normally.
  • Mature lungs. A maturity amniocentesis tests for lung development and maturity.
  • Rh incompatibility. Rh incompatibility is a condition where a mother and baby have different Rh factors in their blood. This is usually not a problem for a first pregnancy, but it can be a problem for second or later pregnancies. If a mother and baby have different Rh factors, the mother's body might treat the baby's blood as a foreign substance and attack it. This disease can be treated today before a baby is born in most cases.
  • Sickle Cell disease. Sickle Cell Anemia and Sickle Cell Trait are hereditary diseases that cause red blood cells to harden when they don't get enough oxygen. This can lead to blocked blood vessels and blood clots.
  • Spina Bifida. Spina Bifida is a condition where the spinal cord or the coverings of the spine are not completely developed. It can lead to problems with physical and mental development.

Administering the Test
During an amniocentesis test, your doctor may administer a local anesthetic to help with any pain that you might experience. Using an ultrasound to locate your baby, your physician will insert a thin syringe through your abdomen until the needle reaches your uterus. Your doctor will then withdraw several teaspoons of amniotic fluid to use for testing purposes. You can have this procedure done in your physician's office.

Doctors will usually discuss having an amniocentesis test with you if:

  • You are 35 or older. Women over the age of 35 are at a higher risk for having babies with chromosomal problems.
  • You get an abnormal reading from other prenatal screening tests
  • You have had an earlier pregnancy that resulted in a baby with a birth defect.
  • You need to have an early delivery. This will test your baby's lung maturity.
  • Your family has a history of genetic disorders

Amniocentesis Risks
Amniocentesis is a procedure with a low risk to mother and child. As with any invasive procedure, there are some risks, including-

  • Cramping
  • Injury to your baby. Although this is rare, occasionally a baby's arm or leg may move into the line of the syringe.
  • Leaking amitotic fluid. According to the Mayo Clinic, only about 1% of all women experience this.
  • Light bleeding. Roughly 3% of women who have an amniocentesis experience this.
  • Miscarriage, although the risk is only slight.
  • Rh problems. If you suspect that you and your baby have different Rh factors, your physician will administer a drug that will prevent your body from developing antibodies to your baby's blood, should some of it enter your bloodstream.

Amniocentesis and You
Should you have an amniocentesis? The biggest advantage of the procedure is knowing in advance if your baby has a genetic or developmental problem. If your baby does have a problem, you can discuss the problem with a genetic counselor and possibly start treatments for your baby before he or she is born. You will be able to choose a hospital that specializes in delivering and caring for special-needs newborns. You will also be able to prepare yourself, your family and your friends for the arrival of a special child.

The disadvantages of the procedure include the slight risks of injury to you and your baby. In rare cases, a physician may not draw enough amniotic fluid, so the test will need to be repeated.

The bigger disadvantage for many prospective parents is finding out that the baby has a developmental or genetic disorder. This could leave you facing the dilemma of whether or not you want to carry your baby to term.

Deciding whether to have an amniocentesis test can be difficult. Make sure that you thoroughly discuss the test with your physician and understand the implications of having this procedure. Involve your partner in the decision-making process, and weigh the risks and benefits in your particular situation.

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