Content Writer-SME
Amniocentesis is a prenatal test performed to assess the overall health of the fetus developing in the mother's womb. With the help of this technique, diagnosis of infection and chromosomal abnormalities in the fetus becomes easier. It can also be used to determine the sex of a child, although due to increasing cases of female foeticide the government has outlawed this practice specifically for sex determination.
However, various birth defects such as Down syndrome, neural defects, abnormal growth of baby can be easily detected with the help of this prenatal technique. A small amount of amniotic fluid present around the baby during pregnancy is collected using a needle and the sample is taken to the laboratory for amniocentesis testing.
In this article, we will learn in detail about the purpose, procedure and risk factors associated with performing the amniocentesis test.
What is Amniocentesis?
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Amniocentesis is a medical procedure, carried out to test the abnormalities such as chromosomal disorders in the developing embryo in the fetus of mother. This test is done to ensure the health of the mother and the fetus so that prospective parents can easily get useful information about their baby and also be prepared for the worst.
- The test is performed on pregnant women, where the doctors examines the amniotic fluid.
- The fetus grows in an amniotic sac and contains amniotic fluid protecting the fetus inside it.
- The procedure of amniocentesis is performed usually during 15-20 weeks of pregnancy.
Purpose of Amniocentesis
Earlier, the test was also used to determine the sex of the unborn baby, but now, the government has banned these types of illegal practices in medical premises. Now, the sex of the fetus is kept a secret only among medical professionals, failing which legal action is taken. Chromosomal disorders and genetically inherited diseases can be detected in developing fetus with the help of amniocentesis.
How is Amniocentesis Test Performed?
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Amniocentesis is carried out using ultrasound technique. To carry out this test, the sample is collected by various techniques like single or double needle technique. To avoid the variation and infections, the collected sample is then sent to the laboratory for testing.
Medical professionals generally recommend amniocentesis testing only if there is a family history of genetically inherited diseases. This procedure is usually performed between 15 and 20 weeks or second trimester of pregnancy. If it is done earlier, it can lead to many complications and risks for both the mother and the fetus. The complete process of amniocentesis is following steps:
1. Ultrasound Evaluation
Before the procedure begins, an ultrasonography which is commonly called ultrasound is done to examine the fetal position, live movements, characteristics of the amniotic fluid, etc.
2. Preparation
The abdomen is cleaned with an antiseptic where the needle is to be inserted. The tools are coated with heparin which prevents blood clotting. Precautionary measures are taken to avoid the risk of infection due to external factors such as air, and microorganisms.
3. Needle Insertion
Once the patient is ready, a needle is inserted through the abdomen and walls of the uterus into the amniotic sac. A small amount of amniotic fluid is collected carefully without touching the fetus. The area chosen to insert the needle is ensured to be away from the fetus.
4. Post Diagnosis
After the procedure, the patient is advised to take rest for the initial 24-hours post procedure avoiding any stressful or heavy-duty work; normal activities are however allowed.
If the procedure was carried out for prenatal diagnosis, then fetal cells can be further separated from the extracted sample using centrifugation, which are then grown in culture medium, fixed and stained. Then under a microscope, chromosomes are examined for any fetal abnormalities.
Why Amniocentesis is Done?
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Amniocentesis is usually recommended to the patient when either of the parents has had a medical history of congenital disabilities in their family or if the mother has previously given birth to a child with a birth defect. Hence, amniocentesis is performed due to following reasons:
- To enable parents to form an idea about the health of their baby before birth and prepare accordingly.
- To check whether the chromosomes of the foetus are normal and do not possess any defect.
- To determine if the fetus has had any infection.
- To determine the development of lungs of the foetus; i.e., whether they are ready to breathe or not.
Advantages of Amniocentesis Test
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Following are the advantages of amniocentesis:
- Amniocentesis helps in providing the health information of developing baby to the parents.
- It has been used for successfully identifying chromosomal abnormalities such as Down Syndrome, Fragile X, Neural Tube Defects, etc.
- It is also helpful in determining genetic disorders such as Tay-Sachs Disease, Sickle Cell Anaemia, Haemophilia, etc.
- This diagnostic test can also be used to detect if the fetus is ready for delivery or not.
- Excess amniotic fluid can also be removed in the case of polyhydramnios with amniocentesis.
Complications of Amniocentesis
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Amniotic fluid procedures are considered to be safe, but sometimes they may pose risks to the mother’s health and the child. According to Preconception and Prenatal Diagnostic Techniques Act, amniocentesis has been banned in India since 1994. The complications of amniocentesis are listed below:
- Infections due to the improper and non-sterile use of tools.
- Preterm labour and miscarriages (they are rare).
- Transferring infections to the unborn child such as HIV and toxoplasmosis.
- Severe leakage.of amniotic fluid.
- Spotting, cramping, and uterine infections.
Things to Remember
- Amniocentesis is a medical test carried out to identify chromosomal diseases.
- The amniotic fluid sample is tested for alpha-fetoprotein (AFP).
- AFP test is carried out to identify fetal disorders and monitor fetal distress.
- Down syndrome and Edward Syndrome can also be examined via amniotic fluid test.
- Premature labor is one of the risks of this prenatal test.
Sample Questions
Ques. What is Amniocentesis? (2 marks)
Ans. Amniocentesis is a prenatal diagnostic test that examines the amniotic fluid from the amniotic sac to determine significant chromosome problems such as Down Syndrome as well as any extra or missing pieces of chromosomes. It is also used for determining genetic disorders and diseases such as cystic fibrosis, sickle cell anemia, etc. It is typically performed between the 14th or 16th week of pregnancy under the recommendation of the doctor in case of any medical history of congenital disabilities in the family.
Ques. In Amniocentesis, what does a positive result depicts? (2 marks)
Ans. If the Amniocentesis bears a positive result, then it is inferred that an abnormality is detected. In such circumstances, it is advisable to discuss the diagnosis and options with an obstetrical geneticist and genetic counselor to receive guidance regarding the post-procedure process.
Ques. What is Amniotic Fluid? (2 marks)
Ans. The fluid sample collected during Amniocentesis is called the amniotic fluid which is the liquid surrounding the immediate fetus. It is the protective liquid contained by the amniotic sac. This fluid works as a cushion for the growing fetus and is essential to facilitate the exchange of nutrients, water, and biochemical products between mother and fetus.
Ques. What are the risks involved in the process of Amniocentesis? (3 marks)
Ans. The Amniocentesis process, though considerably safe, bears a few risk factors, such as:
- The risk of infection due to using non-sterile tools for the procedure, i.e., using non-disinfected needles or non-sterile ultrasound scanners can lead to serious and long-term infections
- The process needs to be carried out in a particular period, if done out of that period or prior, it may result in fatal injuries to the mother as well as the fetus.
- The process may create complications such as preterm labor and delivery or miscarriage.
- Some short-term complications such as mild pain, cramps, and nausea are also involved as side-effects of the procedure.
Ques. What are the precautions to be followed to avoid Post-Procedure complications? (3 marks)
Ans. Although complications of Amniocentesis are rare, a few precautions must be followed to avoid unwanted circumstances. The following steps can be taken to keep the patient on the safer side:
- Avoiding heavy lifting such as grocery, kids, etc.
- No aerobic exercises or activities, i.e. any activity that puts a lot of cardiovascular strain.
- No intercourse.
- Avoid strenuous and vigorous activities as much as possible for the initial 24 hours of post-procedure.
One can get back to a normal schedule the next day, however, patient with persistent complications such as cramps, bleeding, fever, etc must visit to the doctor immediately.
Ques. Why is the process of Amniocentesis banned or has legal restrictions in many countries? (2 marks)
Ans. Amniocentesis is banned or has legal restrictions in many countries due to the possibility of ethical issues. Since the process is capable of determining the gender of the fetus, there are chances where parents may opt for abortion in the case of the girl child. To stop gender discrimination and gender inequality, Amniocentesis is banned in many parts of India and has legal restrictions in many countries.
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