How NIPT or Non-Invasive Prenatal Testing is Helpful for Pregnant Women?

Some parents need to know every possible information about the baby before they are born. Pregnant women specifically have several questions running in their minds about their unborn child. Getting non-invasive prenatal testing done can help such parents. Understanding the limits and benefits of non-invasive prenatal testing (NIPT) can provide help in making better decisions related to the child.

What is non-invasive prenatal testing (NIPT)?

NIPT is a type of parental screening that checks the DNA of a baby’s placenta in the blood sample of the pregnant woman for checking the chances of a genetic disorder in the child.

However, the non-invasive prenatal testing (NIPT) cannot determine the accurate possibilities whether the baby has the chromosomal disorder or if there are any changes in the future. The test can help in knowing the accurate possibilities of the child having the genetic abnormality. The accuracy percentage of the test is 97 to 99 %.

The NIPT result can help the doctors and parents decide further steps. It includes having tests like amniocentesis (amnio) or chorionic villus sampling (CVS). These tests examine the baby’s genetic material, which is gathered from the placenta, to tell the exact possibilities, whether the baby has chromosome abnormality or not. However, they are said to be invasive, which means the possibility of miscarriage is slightly high.

How does non-invasive prenatal testing work?

NIPT works by collecting the small parts of the Deoxyribonucleic acid (DNA), called cell-free DNA, found floating in the blood of the mother’s body. Most fragments are from the body of the mother, but few fragments are found from the placenta and thus carry the fetus DNA.

The cell-free DNA is isolated from the blood to examine several abnormalities and to identify the chromosome-specific fragments coming from. By checking the fragment’s proportions, it is easy to determine if they are coming from such a person having 46 chromosomes.

What can the NIPT detect?

The main aim of the test is to detect aneuploidies, where the chromosome number is high in every cell, and for detecting trisomies that cause Edwards, Patios, and Downs syndromes.

As chromosomes can help in determining the fetal sex, the exact sex can also be determined after 63 days of gestational age.

Following are the reasons behind the need for the NIPT:

• It helps in identifying the fetuses at potential risk of severe chromosomal abnormality.
• It helps in leading to effective management of the genetic health of the child by providing information about the diseases.

Who can get the NIPT done?

All women who are pregnant and want to know about their baby’s development can choose to get the test. Generally, NIPTs are suggested for all kinds of pregnancies. For physicians, it becomes mandatory to advise NIPT for pregnant women where:

• The age of the women is more than 30 years
• High risks are found in the serum screening
• Certain abnormalities were found in the ultrasound
• There is a past family history of birth defects or chromosomal conditions
• Past couple history of pregnancy loss or infertility

Limitations and challenges of NIPT

While NIPT can be useful, it has got certain limitations too. In many cases, the tests result in false positives. It can result in getting unnecessary diagnostic procedures.

In addition, getting the result negative doesn’t mean there is no presence of chromosomal abnormalities in the fetus, and getting information about other chromosomal disorders via NIPT is not possible.

Also, predicting the sex of the child is possible with the help of the NIPT with full accuracy, which may lead parents to take illegal steps.

Market overview of NIPT

Currently, NIPT is said to be the most useful test for pregnant women to get cost-effective and early information about genetic disorders. The market is growing because of the increasing insurance coverage and reimbursement policies across the world.

Also, the continuous investments by the healthcare sector and companies for meeting the demand for genetic disorders are one of the factors driving the growth of the NIPT market globally.

As per the BIS Research report, the value of the non-invasive prenatal testing (NIPT) market in 2020 was $2.52 billion. In the coming years, it is supposed to grow and touch $12.61 billion by 2031 at a CAGR of 15.79%.

Advancements in sequencing technologies can help to reduce the diagnosis complexity of next-generation sequencing (NGS). The technology of NGS is helping to provide different opportunities for developing the non-invasive procedures of the diagnostic for detecting several genetic disorders in the child.

Several companies are indulging in the development and research of NIPT products based on NGS technology. Furthermore, the advancements in sequencing technologies in the science industry are helping companies in detecting early genetic diseases and providing the exact results for remaining highly competitive in the NIPT market.

Conclusion

The demand for NIPT in the market is increasing at a high pace because of the early detection of genetic problems, availability of screening technologies, and increasing demand for the consumer. Since the NIPT can help parents to know about the unborn child, it provides extra time for taking corrective steps in case of any genetic disorders found.