Non-invasive prenatal testing (NIPT), sometimes called noninvasive prenatal screening (NIPS), is a method of determining the risk of whether the fetus of the mother will be born with certain genetic abnormalities. This testing also analyzes small fragments of Deoxyribonucleic acid (DNA) that are circulating in pregnant woman’s blood. NIPT is a safe and highly effective way of screening for conditions such as Down syndrome (also called trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), monosomy X, and Turner syndrome.
Currently, there is two types of NIPT methods that are commercially available, massive parallel sequencing (MPS) technology and the single-nucleotide polymorphism (SNP) based method. Both NIPT methods screen for fetal genetic disorders that arise from extra or missing chromosomes, such as trisomy 21, trisomy 18, and trisomy 13, along with fetal sex and sex chromosome disorders. NIPT can also screen conditions where a small part of the chromosome is missing, called a microdeletion, such as Di-George, Cri-du-chat, Prader-Willi, or Angelman syndrome. Approximately, 1 in 150 live births is affected by a chromosomal abnormality worldwide.
Shift towards Cell-Free DNA screening
The Discovery of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) has created a rapid shift in the paradigm of aneuploidy screening during pregnancy. It’s a simple blood test that can be performed during pregnancy. Clinical validation studies suggest that NIPT is more accurate than combined first-trimester screening (CFTS), with very high sensitivity (99.3%) and specificity (99.9%) for trisomy 21(Down syndrome).
NIPT is also safer than other invasive diagnostic techniques such as chorionic villus sampling and amniocentesis, which involves a risk of miscarriage (0.1–0.2%). However, NIPT is not a diagnostic test; it can only determine whether there is an increased risk of having a baby with an abnormality. Therefore, a high-risk result should be followed by invasive testing for confirmation. Furthermore, owing to its ability to detect the presence of chromosomal abnormalities in fetuses of pregnant women as early as 9 to 10 weeks of gestation, the demand for non-invasive prenatal testing is witnessing a rapid increase globally.
Advent of Advanced Technologies for NIPT Products
Prenatal diagnosis and prenatal screening have undergone rapid development in the recent years. The advent of next-generation sequencing technology has enabled the sequencing of fetal DNA fragments that can be assembled into a full genetic map, allowing the fetal genome to be scanned prenatally and non-invasively. On the other hand, the inclusion of chromosomal microarray analysis (CMA) has allowed the detection of cryptic genomic imbalances (which were not identified by previous techniques), varying levels of mosaicism, and cases of uniparental disomy (UPD). Developments in modern molecular technologies and the discovery of cell-free fetal DNA in maternal plasma have also led to novel screening methods for fetal chromosomal aneuploidies.
Currently, various types of NIPT tests are available in the market such as Panorama, Vistara, MaterniT GENOME, MaterniT 21 PLUS, Harmony Test, among others which help in the screening of chromosomal abnormalities developing in the fetus. Moreover, several developments have been made to impact the quality of care for expectant mothers such as:
- In January 2022, QIAGEN entered into collaborations with Atila BioSystems to provide non-invasive prenatal testing (NIPT) solutions to QIAGEN’s dPCR franchise.
- In June 2021, Illumina and Next-generation Genomic Thailand announced the launch of next-generation sequencing (NGS)-based VeriSeq NIPT Solution v2 in the country which helps to detect anomalies missed by targeted assays.
- In December 2020, Natera announced expanded coverage from the largest U.S. Health Plan, Aetna, for its non-invasive prenatal testing (NIPT) for all pregnancies.
- In June 2019, Cradle Genomics, a San Diego-based startup secured US$17 Mn in Series A funding to support clinical development, CLIA lab operations, corporate infrastructure, and commercial launch of the tests.
“Prenatal care is a dynamic and continuously evolving field. Development in new molecular technologies and the discovery of cell-free fetal DNA are fueling groundbreaking advancements to improve care for mother and child and to offer parents reproductive options.” - Senior Director, Head of Research & Product Development, Sequencing & Array-based Company, United States
Key Challenges/ Constraints: Non-Invasive Prenatal Testing Market
Some of the key challenges restricting the growth of the non-invasive prenatal testing market are stringent government regulations, and limitations of NIPT such as despite its high accuracy, it is still considered a screening test and false positive and negative results can still occur. NIPT only focuses on the common trisomies and cannot test for other genetic diseases. Various professional committees believe that the implementation of NIPT and the subsequent rise in uptake of prenatal testing is likely to increase the incidence of abortions.
North America: The Largest Non-Invasive Prenatal Testing Market
North America is the largest market for NIPT with >45% revenue share, followed by Europe. The growing prevalence of genetic disorders in newborns associated with increasing maternal age, wider adoption and rising awareness about NIPT among the people, the introduction of new and technologically advanced tests, and the presence of leading players working on fetal and neonatal care in this region are some of the key factors driving the North America market.
The market in Europe is expected to grow significantly over the forecast period due to the adoption of the latest technology, new product launches, increased awareness regarding NIPT, and a strong reimbursement framework for these tests in the region. The Asia Pacific region is expected to witness the highest CAGR in the coming years, as there is an increasing demand for early diagnosis of chromosomal disorders during pregnancies in emerging countries. Also, key market players are expanding their foothold in the emerging Asia-Pacific countries by engaging in partnerships and collaborations with domestic market players due to the presence of a large patient base in the region.
Competitive Landscape Analysis: Non-Invasive Prenatal Testing Market
Some of the prominent players operating in this market are Agilent Technologies, Inc., PerkinElmer, Inc., Illumina, Inc., Eurofins LifeCodexx AG, Natera, Inc., Igenomix SL, F. Hoffman-La Roche Ltd., BGI Genomics, Cradle Genomics, Quest Diagnostics, Progenity, Inc., Berry Genomics, Sequenom, Roche (Ariosa Diagnostics), among others.
The study has been compiled based on the extensive primary and secondary research.
Secondary Research (Indicative List)
To validate research findings (market size & forecasts, market segmentation, market dynamics, competitive landscape, key industry trends, etc.), extensive primary interviews were conducted with both supply and demand side stakeholders.
Supply Side Stakeholders:
- Senior Management Level: CEOs, Presidents, Vice-Presidents, Directors, Chief Technology Officers, Chief Commercial Officers
- Mid-Management Level: Product Managers, Sales Managers, Brand Managers, R&D Managers, Business Development Managers, Consultants
Demand Side Stakeholders:
- Stakeholders in Hospitals, Clinics, Diagnostic Laboratories and Other End Users.
Breakdown of Primary Interviews
Market Size Estimation
Both ‘Top-Down and Bottom-Up Approaches’ were used to derive market size estimates and forecasts.
Research findings derived through secondary sources & internal analysis was validated with Primary Interviews, Internal Knowledge Repository and Company’s Sales Data.