Understanding Non-Invasive Prenatal Testing (NIPT) and its Potential to Detect Genetic Disease

Due to genetic variations, inherited illnesses such as Down’s syndrome, Edwards’ syndrome, and Patau’s syndrome are major health issues throughout the world.

In the healthcare industry, advances in technology have constantly been essential to its overall success.

Technological breakthroughs in the life science industry, such as smart wearable devices, sequencing technologies, gene therapy, and genomic technologies, have opened favorable new channels to mitigate genetic disorders and decrease the overall global economic strain, thanks to developments in genome sequencing and molecular research.

Among the industry’s numerous developments, non-invasive prenatal testing (NIPT) has emerged as one of the most unique solutions for addressing genetic disease issues.

Non-invasive prenatal testing (NIPT) is an advanced approach for detecting chromosomal mutations in the developing fetus. NIPT is currently regarded as an important test for expecting women to give a cost-effective and substantially efficient early detection of genetic diseases.

With next-generation sequencing (NGS), breakthroughs in genomic sequencing technology minimize response time and the complexities of diagnosis.

The NGS technology allows for the development of non-invasive diagnostic techniques for the early and accurate diagnosis of a variety of genetic abnormalities. The number of NIPT tests created utilizing NGS technology is rapidly increasing in the life science business.

NIPT’s Potential for Early Detection of Genetic Disease

Prenatal testing is performed prior to the birth of a baby to detect genetic defects in fetuses who are at a higher risk of acquiring them. Antenatal care is liable for prenatal testing.

It entails a variety of tools and strategies for detecting a variety of genetic diseases in the fetus as well as health issues in pregnant mothers.

These genetic illnesses, many of which are hereditary, are dominant X-linked autosomal recessive syndromes that are easily detectable in both pre and during pregnancy instances.

The chance of chromosomal abnormalities rises to 1/385 live birth rate at the maternal age of 30 years, as per studies.

Due to the rising number of instances of genetic abnormalities such as Down’s syndrome, spina bifida, cleft palate, sickle cell anemia, thalassemia, fragile X syndrome, and Tay–Sachs disease, prenatal testing has become a necessity. Furthermore, all these disorders are the result of gene mutations and a chromosomal structure that is aberrant. As a result, prenatal testing prepares the patient psychologically and assists them in deciding on whether to continue or terminate the pregnancy.

What Is NIPT and How Does It Work?

Prenatal testing can take several forms, including amniocentesis, chronic villus sampling, maternal serum screening, and non-invasive prenatal testing (NIPT), to name a few.

Pregnant women at increased risk of acquiring fetal chromosomal aneuploidies such as Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18), Patau’s syndrome (trisomy 13), and Turner syndrome (monosomy X) are screened using NIPT, which also determines the sex of the fetus.

The NIPT process comprises of multiple phases, each of which varies in complexity depending on the tests and technological method utilized. Isolating plasma from the mother’s blood is the first step in a normal process. After that, plasma is collected and processed for examination of cell-free DNA (cfDNA).

The data is derived from cfDNA that has been produced. The data is subsequently subjected to advanced analysis.

Illumina NIPT analyses cfDNA components throughout the whole genome using whole-genome sequencing with next-generation sequencing (NGS) technology, which has shown benefits over previous NIPT methodology such as targeted sequencing and array-based approaches.

When compared to other methods, whole-genome sequencing has a significantly reduced risk of failure. NGS generates the data quality required for accurate analysis of the tiny quantities of cfDNA detected circulating in blood plasma due to its high sensitivity and precision.

A report on global NIPT market shows NGS as the leading method used to perform the test. The data from the study clearly suggests how NIPT is largely dominated by next-generation sequencing (NGS), holding 53.50% of the total market share in 2020 (by revenue) and 52.28% (by volume).

The increasing advancements in NGS technology, with its massively parallel analysis, ultra-high throughput capability, reduced cost, and easier workflow, have significantly increased the demand for NGS-based NIPT procedures with less turnaround time and more safety and accuracy.

The NIPT is conducted with a simple maternal blood draw, so the mother and the baby cannot be in danger. The blood will be collected and delivered to a specialized facility, where the findings will be analyzed by technicians.

Understanding What the NIPT Test Findings Suggest

The NIPT detects fetal cfDNA in the maternal blood, which is derived from the placenta. This is referred to as the fetal fraction. The fetal fraction must be higher than 4% for the highest reliable test findings. This normally occurs during the tenth week of pregnancy; thus, the test should be done after that.

The fetal cfDNA may be examined in a variety of methods. The most frequent method involves calculating the quantity of maternal and fetal cfDNA. The examination will look at certain chromosomes to check if the proportion of cfDNA on each of them is within normal limits.

The outcome will be negative if it remains inside the specified range. This indicates that the fetus is at a lower risk of developing the genetic disorders prompted by the chromosomes in the issue.

If the cfDNA level is higher than expected, the test will provide a “positive” result, indicating that the fetus is at risk for a genetic disease. However, NIPT isn’t completely definitive. Positive results necessitate further testing to rule out any true-positive chromosomal abnormalities or disease in the fetus.

To conclude…

During the first trimester of pregnancy, the NIPT prenatal testing is a reliable elective screening tool for assessing the genetic risks of fetal chromosomal abnormalities, such as Down syndrome.

When an expectant woman has potential risks for certain genetic illnesses, it’s typically more strongly recommended. While the test isn’t diagnostic, it can provide useful information about the health of the baby.