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Amniocentesis Test: Know all about benefits, risks, and accuracy

Amniocentesis Test: Know all about benefits, risks, and accuracy

During pregnancy, the developing baby is surrounded by a fluid called amniotic fluid, which resembles much like water. Amniotic fluid has much value and contains live fetal cells and various other things, including...

Introduction

During pregnancy, the developing baby is surrounded by a fluid called amniotic fluid, which resembles much like water. Amniotic fluid has much value and contains live fetal cells and various other things, including alpha-fetoprotein (AFP). They give valuable information about the health of your baby before delivery.

In the case of a higher risk of birth defects in the baby, the doctor may order a test called amniocentesis (or amnio). It is also advised when the mother has any signs of infection or there is a chance of early delivery. While a blood test, it depicts if a person is at risk only, amniocentesis is useful in making a diagnosis as well.

So, amniocentesis is a prenatal test, which is invasive because the doctor takes a sample of the amniotic fluid. For the test, the sample (less than an ounce) of the amniotic fluid is removed through a fine needle inserted into the uterus through the abdomen, under the guidance of ultrasound. After that, the sample is sent to a lab for testing and checking the baby’s chromosomes. These tests include the karyotype test, microarray analysis, and the FISH test.

The need for an amniocentesis test

Amniocentesis is an indispensable test to know more about some specific problems and birth defects such as Down syndrome, a chromosomal abnormality. Before an amniocentesis, doctors will perform a complete anatomical ultrasound

Amniocentesis is a little risky for the mother and the baby. Hence, this prenatal test is done on a woman who has a great risk for genetic diseases. It is also advised to those women who may:

  • Have a problematic ultrasound or abnormal lab screens
  • Have a genetic predisposition to certain birth defects
  • Have had previously a pregnancy or a child with a birth defect
  • Had shown abnormal genetic test results in the current pregnancy, etc

Amniocentesis is indeed unable to detect every birth defect, but still, it can help detect the following conditions (especially when the parents carry a significant genetic risk):

  • Down syndrome
  • Cystic fibrosis
  • Sickle cell disease
  • Tay-Sachs and similar diseases
  • Muscular dystrophy

Amniocentesis also can detect certain neural tube defects (these are diseases where there is improper development of the brain and spinal column), such as spina bifida and anencephaly. 

Although certain defects cannot be detected by amniocentesis, they can be detected by the ultrasound that is performed at the time of amniocentesis. The ultrasound will help in detecting birth defects such as cleft palate, club foot, cleft lip, or heart defects. On the other hand, there are certain birth defects, which cannot be detected by either ultrasound or amniocentesis.

It is worthwhile to mention that a woman, who is having an amniocentesis, may ask to find out the sex of the baby. An amniocentesis can be the most accurate way to find out that.

An amniocentesis in the third trimester is rarely performed, but it can detect if the baby's lungs are mature enough for delivery, or evaluate the amniotic fluid for infection. 

When is an amniocentesis performed and what about its accuracy?

A doctor will schedule an amniocentesis, between the 15th and 18th week of pregnancy if there is any need for it due to the above-mentioned reasons. Regarding the accuracy of amniocentesis, it is almost about 99.4%.

However, amniocentesis may be unsuccessful occasionally as a result of technical snags, such as being unable to collect a sufficient amount of amniotic fluid or failure of the cells collected to grow when cultured. 

Risk factors of Amniocentesis 

Yes, amniocentesis may carry certain risks. An amniocentesis may cause a miscarriage, which has less than 1% chance. Although extremely rare, amniocentesis may cause injury to the baby or mother, cause an infection, and may trigger preterm labor. These risk factors are higher in women who are carrying twins.

So, can a woman opt-out and decide not to have an amniocentesis? Yes, she can.

She will be given genetic counseling before amniocentesis. The doctor will discuss in detail about potential risks and benefits of amniocentesis. After that, a woman can choose whether she is ready to undergo the procedure.

Amniocentesis: The complete process

For the procedure of amniocentesis, a small area of the abdomen of the woman will be cleansed with an antiseptic. The doctor may also give a local anesthetic (pain-relieving medication) to assuage any discomfort. After that, the doctor will try to locate the position of the fetus and placenta with the help of an ultrasound. 

Under the guidance of the ultrasound, the doctor then inserts a thin, hollow needle through the abdomen and uterus, which goes into the amniotic sac, but away from the baby. With the help of a needle, the doctor removes a small amount of fluid (less than an ounce) from it that will be sent for laboratory analysis.

In case, a woman is carrying twins and each baby has an amniotic sac, the doctor will take two samples. It is worthwhile to mention that amniocentesis is a little trickier in the case of twin babies compared to single babies. One must confirm beforehand that the doctor or technician who is conducting the amniocentesis has previous experience with multiples.

It's likely for some women to experience slight discomfort or cramping akin to menstrual cramps during or shortly after undergoing amniocentesis.

Once the amniocentesis is over, one should go home and relax for the rest of the day. They should not perform any exercise or any strenuous activity. It is advisable not to lift anything over 20 pounds (including children), or have sex.

The doctor may prescribe medications every four hours to relieve discomfort. From the next day of the procedure, one may resume all normal activities unless otherwise advised by the doctor. It is always better to strictly follow the doctor’s advice throughout the pregnancy. If there is fever or bleeding, vaginal discharge, or abdominal pain, the doctor should be called immediately. 

Conclusion

Once the amniocentesis is done, the results are generally available within two to three weeks. If you want to know about amniocentesis test costs in Delhi, talk to your laboratory or healthcare facility for an exact quote. If there is a delay in the reports, you should call your doctor for the reason. Certain birth defects are treated by the doctor while the baby is still in the womb. Talk about every issue or concern you may have with the doctor.

FAQs

What happens if the amniocentesis test is positive?

If an amniocentesis test result is positive, the baby likely has one of the conditions they were tested for. However, a normal result does not mean that a baby will be completely healthy. It is because this test only checks for conditions resulting from certain genes and it cannot exclude every problem.

Is the amniocentesis test painful?

The amniocentesis is usually not painful. However, the mother may feel slightly uncomfortable during the process. Some women do mention experiencing pain similar to period cramps or feeling pressure when the needle is taken out. 

Is amniocentesis safe for the baby?

An Amniocentesis test is generally very safe, even for the baby. But it does carry some risks. One must weigh the risks before the procedure. Consider and mull what if something might be wrong with your baby. There is a chance that the test may lead to a miscarriage. 

Why is amniocentesis banned in India?

Amniocentesis is a threat to the girl child and may lead to female foeticide as it detects the sex of the fetus. In India, it can be dangerous due to the risk of rampant cases of female foeticide. That is why it carries a statutory warning and ban to abolish female foeticide.

What is the cost of amniocentesis in India?

The cost for amniocentesis in India may vary depending on several factors like the facility or hospital, extra screenings required, the doctor’s fees, and the overhead cost of the laboratory, etc. However, to take a general approach, it may start from a minimal range of Rs. 7000, and the maximal range can be Rs. 18,000.

Do I need bed rest after amniocentesis?

If you want to know what to expect after an amniocentesis, it is important to note that there is no need for bed rest after the procedure. However, it is important to avoid doing heavy work including exercising, or heavy weight lifting for about 24 to 48 hours after the process is over.

What happens if amniocentesis is negative?

It is good to know that in most cases of amniocentesis, the results are negative. It implies that the baby doesn't have any of the problems tested for. However, there are chances that the results may be negative from amniocentesis, but still, the baby may be born with the condition tested for, or they may have another chromosomal condition.