Non-Invasive Prenatal Testing (NIPT) is a cutting-edge advanced next-generation sequencing (NGS) healthcare screening tool used during pregnancy to identify high-risk chromosomal abnormalities in the developing fetus.
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Non-invasive prenatal screening techniques can detect chromosomal abnormalities including Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13).
These extraordinary assays examine cell-free DNA (cfDNA) in the maternal bloodstream, providing crucial information about the fetus' genetic health without invasive diagnostic techniques. Unlike traditional procedures, this novel treatment is non-invasive and does not cause direct harm to the fetus.
This cfDNA will convey genetic information from the developing fetus, providing insight into the health of the genetics being examined as well as the fetus' sex. However, the NIPT design focuses on identifying aneuploidies, which is a disorder characterized by an aberrant number of chromosomes.
cffDNA Vs maternal cfDNA
Cell-free fetal DNA (cffDNA) in maternal blood is an intriguing feature of prenatal molecular diagnosis. This unusual genetic material is made up of severely fragmented parts that range in size from 50 to 200 base pairs.
The difficulties in determining the origin of these pieces, whether they come from the developing fetus or the maternal genome, present a barrier in NIPT tests.
Despite these complications, technical improvements and sophisticated analytical procedures have enabled the detection and separation of cffDNA from maternal blood, paving the way for non-invasive prenatal testing.
The different properties of cell-free fetal DNA (cffDNA) and maternal cell-free DNA (cfDNA) in the bloodstream reveal information about their biological activities. The DNA length surrounding the histone core protein in nucleosomes varies between cffDNA and maternal cfDNA.
CffDNA has tighter winding, resulting in fragments that are roughly 20 base pairs shorter than maternal cfDNA. Simply put, the "histone core protein in nucleosomes" are the small spools that wrap around our genetic material, DNA.
These spools, which resemble beads on a string, help organize and bundle the DNA, playing an important role in how genetic information is stored and accessible within our cells. This disparity is thought to be caused by enhanced processing or metabolism of cffDNA as compared to most circulating maternal DNA.
The average reported length of cffDNA pieces is around 143 base pairs, whereas maternal cfDNA is slightly longer, at about 166 base pairs. These subtle differences in length add to the complexities of extracting and studying these two forms of cell-free DNA.
How does Non-Invasive Prenatal Testing (NIPT) use next-generation sequencing (NGS) to assess the risk of chromosomal abnormalities in the developing fetus?
Next-Generation Sequencing (NGS) and Non-Invasive Prenatal Testing (NIPT) are advanced genetic analysis methods. NGS is a high-throughput DNA sequencing approach that allows for the quick sequencing of complete genomes or specific sections.
Its efficiency and scalability have transformed genomics, enabling researchers to evaluate massive amounts of genetic data fast and precisely. NGS has a wide range of uses, including discovering genetic alterations, better understanding complicated diseases, and enabling tailored therapy.
Next-Generation Sequencing (NGS) is a critical component of Non-Invasive Prenatal Testing (NIPT), transforming the landscape of prenatal genetic screening.
NIPT uses NGS technology to examine cell-free fetal DNA (cffDNA) in the maternal circulation, providing a non-invasive and highly accurate way to detect chromosomal abnormalities in the growing fetus.
NGS identifies aneuploidies such as Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome) by sequencing and analyzing specific sections of the fetal genome.
The high throughput and precision of NGS make NIPT a strong tool in early pregnancy, giving patients with vital insights into their fetus' genetic health.
The incorporation of NGS into NIPT highlights the synergy between sophisticated genomic technologies and prenatal care, resulting in safer and more complete prenatal screening choices.
What does NIPT entail?
The sample collection procedure for NIPT is simple and provides little danger to both the mother and the growing fetus. A tiny blood sample is normally obtained from the pregnant lady using a simple venipuncture procedure.
This blood sample contains cell-free fetal DNA (cffDNA), which comes from the placenta and circulates in the maternal bloodstream, as well as maternal cfDNA. Importantly, this cffDNA contains genetic information from the growing fetus, enabling for a non-invasive evaluation of its chromosomal status.
The blood sample is obtained and sent to a facility equipped with advanced molecular biology techniques, such as Next-Generation Sequencing (NGS).
In the lab, cffDNA is collected and submitted to NGS analysis, which sequences particular sections of the fetal genome and looks for chromosomal abnormalities.
The noninvasive nature of NIPT sample collection minimizes the hazards associated with invasive treatments such as amniocentesis, making it a safer alternative for patients.
Future of NIPT
The future of Non-Invasive Prenatal Testing (NIPT) looks bright as continuous research and technical improvements refine and expand its capabilities. One significant direction is to improve non-invasive prenatal diagnosis' ability to detect a larger range of genetic abnormalities other than common aneuploidies.
As our understanding of the human genome grows, NIPT will most likely become a more comprehensive tool, allowing for the identification of rare genetic disorders and providing an improved understanding of the fetal genetic landscape for systematic examinations, better decision-making, and genetic counselling follow-up.
In addition, the incorporation of modern technologies, such as artificial intelligence and machine learning, is expected to play a critical role in determining the future of NIPT. These technologies can greatly increase the quality and efficiency of data analysis, resulting in more trustworthy test findings.
The continuous investigation of novel biomarkers in drug discovery may help improve NIPT's diagnostic skills even further.
As research and innovation continue, the future landscape of NIPT has the potential to give expectant parents ever more specific and individualized information about their baby's health, ushering in a new era of prenatal care.
What Sapio does to improve NIPT diagnostic testing, from tracking to reporting
Sapio Sciences provides solutions that track requests for NIPT tests, from collecting to reporting results. Sapio Sciences systems can follow the sample's travel from when it arrives at the lab/hospital until when it is delivered via the NIPT protocol.
These samples must be analyzed within five days of collection from the expecting woman. However, if centrifuged, they can be stored for up to ten days.
Sapio tracks the samples' storage location and processing progress, and if a sample is not processed within the stated time limit, it contacts the appropriate parties and requests a fresh sample.
Sapio will wait for the Quality Control data from the sample and the final report produced by the VeriSeq instrument. Once the final report is generated, it is sent back to the requester so that Sapio can keep record of all yearly total samples, reagents used, and any specimen failures or reprocessing that may arise.
About Sapio Sciences
Sapio Sciences' mission is to improve lives by accelerating discovery, and because science is complex, Sapio makes technology simple. Sapio is a global business offering an all-in-one science-aware (TM) lab informatics platform combining cloud-based LIMS, ELN, and Jarvis data solutions.
Sapio serves some of the largest global and specialist brands, including biopharma, CRO/CDMOs and clinical diagnostic labs across NGS genomic sequencing, bioanalysis, bioprocessing, stability, clinical, histopathology, drug research, and in vivo studies. Customers love Sapio's platform because it is robust, scalable, and with no-code configuration, can quickly adapt to meet unique needs.
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