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Amniocentesis: Symptoms, Causes, Treatment, Procedure, Cost and Side Effects

Last Updated: Mar 17, 2022

What is the treatment?

The fetus is surrounded by amniotic fluid during pregnancy, which is a substance much like water. Amniotic fluid is known to carry live fetal cells among other substances present, such as alpha-fetoprotein (AFP). These substances provide significant information about the health of your baby before birth. Amniocentesis can be defines as a prenatal test associated with the removal of a small amount of amniotic fluid from the sac which surrounds the fetus for the purpose of testing.

You might need amniocentesis for the main and most common reason of abnormal prenatal screening. This test helps your doctor in confirming or denying any kind of abnormalities which may have been found during the test. In case you already have had a child with a serious abnormality of the spinal cord (neural tube defect) or brain, or birth defect, this procedure helps by checking and making sure whether your child has the previous mentioned condition. In case you are older than 35 years, your baby is possibly at a higher risk for a chromosomal abnormality called Down syndrome. Amniocentesis diagnoses these abnormalities. In case you or your sexual partner is a carrier of a genetic disorder, like cystic fibrosis, amniocentesis will detect beforehand whether your unborn child suffers with this disorder or not.

What are the symptoms of Amniocentesis?

Amniocentesis is a diagnostic procedure for the confirmation of birth defects. It involves the lab testing of amniotic fluid. Important symptoms associated with the procedure include:

  • Lower abdominal cramps
  • Vaginal bleeding
  • Vaginal leakage of the amniotic fluid
  • Infections
  • Miscarriage or abortion
  • Preterm labor
Summary: Amniocentesis is an invasive, prenatal diagnostic procedure. It is performed to detect fetal developmental abnormalities but may be accompanied by serious symptoms such as severe abdominal cramping, vaginal bleeding, miscarriage, preterm labor, infections, etc.

Can amniocentesis cause autism?

Autism is a neurodevelopmental disorder characterized by impaired social and communication skills. Although the exact cause is still unknown, single gene defects, chromosomal abnormalities, and environmental factors such as neurotoxins are some of the reasons considered for its development.

In some cases, Autism is related to amniocentesis too. It has been found to be linked with elevated fetal testosterone levels in the amniotic fluid when routine amniocentesis is performed.

Summary: Amniocentesis is one of the causative factors for autism, other factors being single gene defect, chromosomal abnormalities, and environmental factors such as neurotoxins. Elevated fetal testosterone levels during amniocentesis are responsible for the disease.

How Amniocentesis is diagnosed?

Amniocentesis is a prenatal diagnostic procedure that is performed in the following steps:

  • Ultrasound monitoring of the fetus: It is performed using an ultrasound transducer. It is used to show the exact position of the developing baby inside the uterus.
  • Taking out the sample: After watching the baby's position on the monitor, a sample of the amniotic fluid is withdrawn using a fine needle. The fluid contains fetal cells as well as the chemicals produced by the fetus. The collected amniotic fluid sample is sent to the laboratory.
Summary: The diagnosis with amniocentesis is done under the supervision of a specialist. Important steps involved are ultrasound monitoring of the fetus, followed by withdrawing the sample of amniotic fluid to be sent for lab testing.

What birth defects are not detected by amniocentesis?

Amniocentesis is an invasive diagnostic procedure used to detect birth defects in a developing fetus. It is usually performed in those cases in which mothers are at significant risks for genetic diseases.

Down syndrome, Sickle cell disease, Cystic fibrosis, Muscular dystrophy, Tay Sachs disease, etc. are some defects that can be detected with this. However, there are certain abnormalities that cannot be detected using this method. Those include:

  • Cleft lip
  • Cleft palate
  • Club foot
  • Heart defects
Summary: Amniocentesis involves lab-testing of the amniotic fluid, followed by the sample analysis at the chromosomal level. It detects certain birth defects excluding cleft lip, cleft palate, club foot, heart defects, etc.

Is amniocentesis a genetic test?

Amniocentesis is certainly a genetic test based upon the genetic or chromosomal analysis of amniotic fluid withdrawn from the uterus. This fluid consists of fetal cells as well as chemicals produced by the developing fetus. It is then sent to the lab for testing.

This procedure confirms some of the birth defects such as Down syndrome, Sickle cell disease, Cystic fibrosis, etc. These are the developmental anomalies associated with an abnormal number of chromosomes in the fetus cells.

Summary: Amniocentesis involves withdrawing a sample of amniotic fluid surrounding the fetus, followed by lab testing of the same. This is done to analyze the chromosomal content of the fetal cells, so as to confirm certain birth defects including Down syndrome, Cystic fibrosis, etc.
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What are the things you should prevent during Amniocentesis?

Depending upon the stages of pregnancy, one can determine the things to be prevented during amniocentesis. It is considered better to prevent the consumption of fluids prior to the procedure in the advanced stages of pregnancy.

This is so because a full bladder may increase the risks of puncture with the amniocentesis needle, causing severe complications.

Summary: It is suggested to prevent the consumption of fluid or water prior to amniocentesis in the advanced stages of pregnancy. This is done as the full bladder has higher risks of puncture with the needle during the procedure, leading to complications.

How is the treatment done?

A sample of the fluid (less than an ounce) is removed by inserting a fine, long and thin needle into the uterus through the stomach. While the baby is in the womb, this fluid surrounds and protects it. This process takes place under the guidance of an ultrasound in order to find out the exact location of the baby in the uterus. An ultrasound is characterized as a non invasive procedure associated with the usage of high frequency sound waves which creates an image of your unborn baby. The amniotic fluid is sent to the laboratory for further analysis by a laboratory technician thereafter. There are a number of different tests which can be performed on the sample of amniotic fluid. These tests include genetic disorders such as cystic fibrosis, spina bifida, and Down syndrome. This factor depends on the indications and the genetic risk for the test. You won’t be requiring a stay in the hospital as this test is an outpatient procedure.

The test result will help confirm whether to continue with the pregnancy or not. The test result will also let you know whether or not the baby is matured enough to be born. This test is also helpful in determining whether or not you need to deliver early in order to negate any kind of complications.

Who is eligible for the treatment? (When is the treatment done?)

Women who are 18 to 20 weeks pregnant are eligible for the test.

Who is not eligible for the treatment?

Women before 20th week of pregnancy are not eligible for the procedure as it may harm the unborn baby, drain the amniotic fluid from the body and increase the chances of miscarriage.

Are there any side effects?

The side effects associated with amniocentesis test are a 0.6% of miscarriage rate if done during the second trimester of pregnancy, cramps, vaginal bleeding, leakage of amniotic fluid out of the body, uterine infection, and the transfer of infection to your unborn baby.

What are the post-treatment guidelines?

After the procedure of amniocentesis is over, it is best for you to go home and relax for the remaining day. Your doctor will strictly advise you to not exercise, lift anything over 20 pounds (children are included), avoid sexual relations and avoid performing any strenuous activity. You may have to take two acetaminophen (Tylenon) every 4 hours in order to relieve discomfort. After the procedure is complete, you can continue all normal activities a day after, unless directed by your doctor otherwise. Do not rush to your workplace or anywhere else which puts physical strain on you as this might harm the baby after the procedure.

Should I go to urgent care for Amniocentesis?

Amniocentesis may be accompanied by some serious health issues which need urgent care and consultation with the doctor. Those symptoms include the following:

  • Moderate to severe abdominal cramping
  • Occurrence of high-grade fever or chills
  • Severe belly pain
  • Bleeding from the vagina
  • Leakage of amniotic fluid from vagina or needle puncture site
Summary: Amniocentesis in some cases, is accompanied by serious symptoms such as severe cramping, pelvic discomfort, vaginal bleeding, vaginal leakage of amniotic fluid, etc. Such conditions need urgent medical care and treatment.

How long does it take to recover?

It just takes a day to return back to normal activities after the procedure of amniocentesis is complete as it is just a test and not a treatment.

What is the price of the treatment in India?

The cost of amniocentesis ranges between Rs. 8,000 to Rs. 12,000.

Are the results of the treatment permanent?

The results of the test are permanent. In case the results of the test are normal, your baby doesn’t have a genetic or chromosomal abnormality. Normal results of amniocentesis demonstrate that your baby is likely to be born with a high rate of survival and health. If the result is negative, then it is a matter of risk for you to continue with the pregnancy as your baby may be born abnormal or with a disorder.

Can you eat and drink before an amniocentesis?

One should have plenty of fluids prior to amniocentesis during early pregnancy stages. This is because a full bladder facilitates a better positioning of the uterus which can give a better view of the same during the procedure.

However, in the later stages of pregnancy, it is suggested to avoid drinking or eating before the procedure. This is because an empty bladder is necessary to reduce the risks of puncture with the amniocentesis needle.

Summary: Eating or drinking prior to amniocentesis depends upon the condition of pregnancy. In the early stages, it is advised to have plenty of fluids before undergoing the procedure while eating or drinking should be avoided in advanced stages.

Can you eat after amniocentesis?

A woman can eat or drink normally as per her wish after the procedure of amniocentesis. There are no restrictions regarding meals. The only things to take care of after the procedure include proper rest and avoiding any strenuous work or activity for a minimum time duration of 24 hours.

Summary: Amniocentesis is followed by some preventative measures which mainly include avoiding strenuous physical activities. But there are no such restrictions with diet or meals, hence a woman can go normal with her dietary intake after the procedure.

When can I exercise after amniocentesis?

Amniocentesis, in certain conditions, may be followed by symptoms including abdominal cramping, severe belly pain, pelvic discomfort, vaginal bleeding, high fever or chills, leaking amniotic fluid from the vagina, or needle puncture site.

Hence, it is better to avoid any strenuous physical activities like exercises for at least 24 to 48 hours after the procedure. Proper rest is important during this time period so as to ensure complete healing and prevention of any further complications. After that, one can resume the normal activities of life.

Summary: Following amniocentesis, proper rest and care are needed for the woman to ensure complete recovery. It is advised to avoid any strenuous physical activity till 24 to 48 hours, thus exercises should be strictly prohibited in such conditions.

What are the alternatives to the treatment?

There are various alternatives to amniocenteses. These involve noninvasive prenatal test, integrated screening, first trimester combined screening, and second trimester quad screen.

References

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Written ByDr. Anand Bhatt MS - Obstetrics and Gynaecolog,PG Diploma in IVF & Reproductive Medicine,Advanced Infertility & ART trainin,MBBS,Diploma in Minimal Access SurgeryGynaecology
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