How is the NIPT or non-invasive prenatal testing helpful for pregnant women?

When women are pregnant, they have several questions running in their minds about their baby. Getting the non-invasive prenatal testing (NIPT) done can help to know about the chances of a baby getting affected with a genetic condition like Down syndrome.

If the result of NIPT is positive, and to know about the genetic condition the baby is suffering from, a patient needs to get the diagnostic testing done. Some parents need to know every possible information about the baby before the baby is born. Understanding the limits and benefits of non-invasive prenatal testing (NIPT) can facilitate better decision-making among couples with respect 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 NIPT cannot determine the accurate possibilities of whether the baby would develop any chromosomal disorder or if there would be any changes in the body of the child in future. However, the test can help in knowing the accurate possibilities of the child having a genetic abnormality. The accuracy percentage of the test ranges from 97% to 99 %.

The NIPT screening result can help the doctors and parents decide the further steps towards child health. 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, the test 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 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 extracted from the placenta and carry the fetus DNA .

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

What can the NIPT detect?

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

Chromosomes can help in determining the fetal sex, and the same can also be determined after 63 days of the gestational period.

Following are reasons behind the growing demand for the NIPT:

• It helps in identifying the fetuses at potential risk of severe chromosomal abnormality.
• It leads to effective management of the genetic health of the child by providing critical information about any potential disease beforehand.

Who can get the NIPT done?

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

• The age of the women is more than 30 years.
• High risks are found in the serum screening.
• Certain abnormalities are found in the ultrasound.
• Past family history of any birth defects or chromosomal abnormality conditions.
• The couple has a 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 test results in false positives. This can result in getting unnecessary diagnostic procedures for the patients. In addition, getting a negative result doesn’t mean there is no presence of chromosomal abnormalities in the fetus, and it is also not possible to get information about other chromosomal disorders via NIPT.

Also, predicting the sex of the child is possible with the help of NIPT with full accuracy. Parents that get prior information about the child’s sex can cause confusion and lead them to take wrong 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 investment by the healthcare sector and companies for meeting the surging demand for genetic disorders testing is one of the key 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. However, in the coming years, it is expected 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 complexities associated with next-generation sequencing (NGS). The NGS technology is helping to provide different opportunities for developing non-invasive procedures for the diagnosis and detection of several genetic disorders among children.

Several companies are indulging in the development and research of NIPT products based on NGS technology. Furthermore, the advancements in sequencing technologies in the healthcare industry are helping companies in the early detection of genetic diseases and providing them with accurate results, thereby boosting their shares in the NIPT market.

Conclusion:

The demand for NIPT in the market is increasing at a high pace because of the growing need for the early detection of genetic problems, availability of screening technologies, and increasing demand for such testings from the consumer’s end. Since NIPT can help parents to be aware of their child’s disease beforehand, this provides extra time to the parents for taking corrective steps in case any genetic disorders are found.