NIPT Test Cost, Genetic Disorders Covered, Report

NIPT stands for non-invasive prenatal testing. This blood test is done in the early phase of pregnancy to detect genetic birth defects in the fetus. After the 10th week of pregnancy, the DNA of the fetus starts circulating in the mother’s blood which is called cell-free DNA. These are the small fragments of DNA found in the blood, not like normal DNA which is found in all cells of the body. By assessing these DNA fragments, genetic diseases are detected in the baby. This test is still a screening test and does not confirm the presence of genetic disease 100 percent. NIPT test cost varies from  Rs 10000 to Rs 30000 and depends on the lab and the city.

A Brief About NIPT Test

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NIPT Test Cost

NIPT test cost in India varies from Lab to Lab in India. The price may vary somewhere between Rs 10,000/- to Rs 30000/-. Price fluctuation depends on other factors such as the number of genetic parameters included in the test as well as city, collection charges, and the report delivery.

NIPT Test Cost in Popular Labs India

 

City Wise NIPT Test in India

 

What is the NIPT Test for?

In a non-invasive prenatal test, the cell free DNA is examined to detect genetic disease in the unborn baby. This test is done in the first trimester just after the pregnancy has completed 10th week. This test helps diagnose Down syndrome, Edward’s syndrome, and Patau’s syndrome. In most of the lab deletion and duplication of the X and Y chromosome is also included in the test.

However, this is only a screening test, in which it is ascertained whether there is any such disorder in the child or whether there is no possibility of having such a disorder.

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Why is the NIPT test called Non – Invasive?

This test is called non-invasive because the test is done through the mother’s blood outside the womb and hence it does not pose any risk to the fetus. This is only the screening test and if the report comes with high risk then there is an option for invasive test procedures such as Chorionic Villi Sampling (CVS) and Amniocentesis.

 

When to do the NIPT test?

The NIPT test can be done in the first trimester of pregnancy, just after the pregnancy has completed 10th week of gestational age. Doctors recommend this test in the early phase of the first trimester if the expectant mother is older than 35 years, if she has given birth to an abnormal child or has gone through a recurrent miscarriage.

 

Which women should get NIPT?

In the following conditions, women should get the NIPT test done:-

1. Family history of genetic conditions.
2. Women are older than 35 years of age.
3. Previous baby with down’s syndrome.
4. Abnormal findings in ultrasound and high risk of the marker screening test.

What genetic disorders does NIPT test for?

The genetic conditions/disorders covered in this test are:-

1. Down Syndrome (Trisomy 21)
2. Edwards Syndrome (Trisomy 18)
3. Patau’s Syndrome (Trisomy 13)
4. Micro Deletion and Duplications
5. Some gonosomal aneuploidies such as XYY syndrome, Klinefelter Syndrome, Turner Syndrome, and Triple X.

 

What is Trisomy 21 or Down Syndrome?

In Down syndrome, a  baby is born with an extra copy of chromosome 21. Normally, a cell has 23 pairs of chromosomes. In the case of Down’s syndrome, there is the presence of one additional copy of chromosome 21 that’s why this is called trisomy.

This condition can cause delays in the physical and mental development of the child.

This condition cannot be prevented but can be detected before birth. Babies with down’s syndrome are at higher risk of certain medical conditions. Some people with Down syndrome require special medical facilities for the whole of their lives, but some lead a healthy life.

 

What is Trisomy 18 or Edward Syndrome?

In the case of Edward’s syndrome, there is an extra copy of chromosome 18 in the body and hence called trisomy 18. This is a rare but very dangerous condition and is mostly found in girl children.

Children with chromosome 18 do not survive more than a year. 

Children who survive for almost a year, and may face many serious problems related to brain and physical development. 

This problem develops in the fetus and affects the growth and development of the unborn child. Therefore it is very important to get a proper gynaecological check during the pregnancy and follow the advice of the doctor.

What is Trisomy 13 or Patau’s Syndrome?

Patau syndrome is a genetic condition in which extra copies of chromosomes are found in chromosome 13. This is rare but a serious condition. 

The condition severely hampers the development of the child and in many cases leads to miscarriage or death of the child shortly after birth. Babies with trisomy 13, grow slowly in the womb and after birth can have low birth weight, as well as many other serious diseases.

This genetic condition can only be detected through early screening tests and ultrasonography.

What is microdeletion and duplication of chromosomes?

This microdeletion and duplication syndrome is caused by some microscopic duplication and deletion in the chromosomes. The conditions arising from this microdeletion and duplication are noticed after the birth of the baby.

A baby diagnosed with this syndrome can cause conditions like heart defects, feeding problems, failure to thrive, developmental delay, and autism.

These conditions diagnosed after physical appearance are confirmed by the more sophisticated test like microarray.

 

What are gonosomal aneuploidies?

Gonosomes are the sex chromosomes that are X and Y. Any extra or lower number of copies in the sex chromosomes are called gonosome aneuploidies. 

These gonosomal aneuploidies are as follows:-

1. XYY syndrome, 
2. Klinefelter Syndrome, 
3. Turner Syndrome, and 
4. Triple X.

1.XYY Syndrome:- This is the syndrome only found in the male with an extra copy of the Y chromosome. In normal conditions, there is only one X and one Y chromosome in a male. 

Males with this XYY syndrome have noticeable signs and symptoms such as abnormal height, low muscle tone or weakness, widely spaced eyes, etc.

Problems associated with XYY syndrome are autism, ADHD and behavioral problems, and many more.

2.Klinefelter Syndrome:- This syndrome also occurs in males only and happens due to the presence of extra copies of X chromosomes. 

Not all babies born with Klinefelter Syndrome have noticeable symptoms. But some babies have weak muscular strength and quiet personalities. They take longer to do things like sit up, crawl, walk and speak.

Boys with this syndrome have a slower rate of testicular development which thereby leads to low production of testosterone hormone and sperm.

A lower ability to produce testosterone hormone can lead to many problems in the later stages of life. 

3.Turner Syndrome:- This syndrome is only found in girl children. Normal females contain two X chromosomes but in Turner Syndrome, there is a missing one X chromosome. 

Girls born with this syndrome show signs and symptoms as they are shorter than other peer groups, have a lower average height and have other physical features. 

The problems associated with this syndrome can be such as the are unable to develop ovaries and secondary sexual characters. They are infertile as adults. Turner Syndrome can be diagnosed by tests like Karyotype and NIPT.

4.Triple X Syndrome:- Triple X syndrome only occurs in female children with the presence of an extra copy of the X chromosome in the cells. Hence this is called trisomy X syndrome.

Girls with Triple X syndrome can show signs and symptoms such as abnormal height than the average height, widely spaced eyes, muscle weakness, or low muscle tone. 

Problems associated with triple X syndrome are anxiety, depression, and ADHD (attention deficit hyperactivity disorder). These can be problematic in the early days of life but can be lowered in later stages of life. They can be easily manageable through treatment.

NIPT Test Report

The reports of this test are usually available within 2 to 3 weeks. 

If the report is negative, it means that the risk of the child getting these syndromes is very low. The accuracy of this test is 97% to 99%. From this, it can be found out whether the child is at risk of having any commonly found genetic disorders.

Conclusions

The NIPT test can screen genetic conditions and therefore it is very easy to confirm with the other diagnostic test in the early phase of pregnancy. The price of NIPT in many labs varies in different labs and provides many discount offers with many benefits.

Diagnosis of the genetic diseases in the early stage of pregnancy can give relief to the expectant parents.

Frequently Asked Questions – FAQs

Q 1 :- How accurate is the NIPT test for down syndrome?

Ans :- NIPT test for down syndrome is 97% – 99% accurate.

Q 2 :- Is the NIPT test done in India?

Ans :- Yes.

Q 3 :- How to Prepare for the NIPT test?

Ans :- No preparation is required for the NIPT test.

Q 4 :- Can the NIPT test be wrong?

Ans :- NIPT test report can be false positive.

Q 5 :- Does NIPT test for autism?

Ans :- Yes, it is covered in microdeletion and duplication.

Q 6 :- Is NIPT covered by insurance?

Ans :- Yes, it is covered in insurance.

(Disclaimer: Information provided in this piece of article is purely for educational purposes only. All results must be clinically correlated with the patient’s data to make an accurate diagnosis.)

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References 

1. Medlineplus; What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?
2. Cleveland; NIPT test