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Baby check: Amniocentesis

BY LIANE CLORES, RN JUNE 16, 2014


George and Rita are so excited, after years of waiting, finally theyre going to have
a baby. Their excitement cannot be controlled as they excitedly pick out
suitable baby names, buy baby clothes and baby things. Theyre just so excited to
meet the fruit of their love. However, all excitement turns into anxiety as their doctor
advises them an amniocentesis.
Amniocentesis? What is that all about? Is there something wrong with ourbaby?
Questions flood their mind as they think about their child and imagine possible worst
case scenarios happening.
No, this cant be. Please let there be nothing wrong. Please let all be well They say
to their own selves as they contemplate on what their doctor said and pray for a
miracle.
Amniocentesis: Should I be worried?
Amniocentesis is defined as a procedure in which amniotic fluid, the fluid that
surrounds and protects the baby during pregnancy, is removed from the
uterus for testing or treatment. This fluid contains fetal cells and various
chemicals produced by the baby. It is used in the prenatal diagnosis of
chromosomal abnormalities and fetal infections during pregnancy. In other
words, it is done to look for birth defects and genetic problems in the
developing baby. It can also be used for sex determination.
Amniocentesis is a diagnostic test, not a screening test, is 99% accurate for
diagnosing Down syndrome and is usually done between 14 and 20 weeks.
Usually, it is done early in pregnancy to diagnose chromosomal and other
fetal problems such as:
Down syndrome (trisomy 21) (genetic amniocentesis)
Trisomy 13 (genetic amniocentesis)
Trisomy 18 (genetic amniocentesis)
Fragile X (genetic amniocentesis)
Rare, inherited metabolic disorders(genetic amniocentesis)
Neural tube defects (anencephaly and spina bifida) by alpha-fetoprotein levels
(genetic amniocentesis)
Genetic amniocentesis is generally offered when the test results might have a
significant impact on the management of the pregnancy or your desire to
continue the pregnancy.
With maturity amniocentesis, a sample of amniotic fluid is tested to determine
whether the babys lungs are mature enough for birth.
Occasionally, amniocentesis is used to evaluate a baby for infection or other
illness.
Rarely, amniocentesis is used to decrease the volume of amniotic fluid.
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
How it is performed
During this procedure, a
small amount of fluid from the sac around thebaby in the womb (uterus) is
removed and is most often done in a doctors office or medical center. But
first, a pregnancy ultrasound (with a full bladder) may be done in order to help
the health care provider see where the baby is in your womb. Also, blood may
be taken to find out your blood type and Rh factor. You may get a shot of
medicine called RhoGAM if you are Rh negative.
Before the procedure, a local anesthetic can be given to the mother in order
to relieve the pain felt during the insertion of the needle used to withdraw the
fluid. Sometimes, the medicine is given through a shot in the skin on the belly
area. When the anesthetic takes effect, a needle is usually inserted through
the mothers abdominal wall, then through the wall of the uterus, and finally
into the amniotic sac. With the aid of ultrasound-guidance, a physician
punctures the sac in an area away from the fetus and extracts approximately
20ml of amniotic fluid.
The fluid is then sent to a laboratory. Testing may include:
Genetic studies
Measurement of alpha-fetoprotein (AFP) levels
Results come back in about 2 weeks.
This procedure may also be done at times later in pregnancy in order to
diagnose infection, to check to see if the babys lungs are developed and
ready for delivery, and to remove excess fluid from around the baby when an
abnormally high amount of fluid is made (polyhydramnios).
Risks when performing this procedure are minimal, but may include:
Infection or injury to the baby (Rarely, amniocentesis might trigger a uterine
infection)
Miscarriage (Research suggests that the risk of miscarriage is higher for
amniocentesis done before 15 weeks of pregnancy);
Leaking of amniotic fluid (Rarely, amniotic fluid leaks through the vagina after
amniocentesis)
Needle injury (during amniocentesis the baby might move an arm or leg into the
path of the needle).
RH sensitization (Rarely, amniocentesis might cause the babys blood cells to
enter the mothers bloodstream)
Vaginal bleeding
Results
So, the test is done and now youre waiting for the results. Normal results
reveal no genetic or chromosome problems seen in the baby and that
Bilirubin and alpha fetoprotein levels appear normal. However, even with
normal results after an amniocentesis, a baby may still have other types of
birth defects.
An abnormal result may mean the baby has a gene or chromosome problem
(Down syndrome or other abnormalities) and birth defects may be present that
involve the spine or brain (spina bifida).

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