With Non-Invasive Prenatal Testing (NIPT), molecular genetics enables the correlation between changes in the structure and sequence of human genes and their functional implications for protein activities, ultimately influencing health and disease outcomes.1
Cell-free DNA (cf-DNA) fragments obtained from maternal plasma can be purified and labeled with “universal sequence adapters” to create a library suitable for amplification via Next-Generation Sequencing (NGS) or other advanced technologies.2
Sample type: Maternal blood
Analyte: cf-DNA
The genetic material can be analyzed to accurately assess the likelihood of genetic abnormalities or aneuploidies within the fetus's genome.
Through genetic sequencing and identifying potential errors, healthcare professionals and parents can gain valuable insights into the possible health risks or diseases that their future child may face.
This information, in conjunction with genetic counseling, empowers parents to make informed decisions and better prepare for their child's health.
Common challenges resulting in test failure
Test failures are no-call or inconclusive NIPT results due to laboratory or technical issues. Some common challenges are listed below.
1. Inadequate sample collection or preservation during transport
High redraw rate
High redraw rate for laboratories with long turn-around-times (TATs) is especially common in Middle Eastern countries.
Storage and transport of blood samples
The rupture of red blood cells, referred to as hemolysis, and white blood cell lysis, together with other concerns, can inhibit proper analysis of cell-free nucleic acids.
The lysis of white blood cells releases cellular DNA and RNA into the plasma which can mask cf-DNA/cf-RNA concentrations, making sequencing more difficult and expensive.
The lysis of red blood cells releases contents into the plasma that can co-elute with or harm nucleic acids, resulting in inhibited sequencing performance.
Costly and stressful endeavor
Test failures necessitate retesting, resulting in additional costs and increased wait times for expectant mothers and families.
2. Poor test sensitivity
Low fetal fraction
The fraction of fetal DNA over all the DNA present in a mother's blood is referred to as the fetal fraction. Typically, a fetal fraction of less than 4% is considered “low” (source).
Low fetal fraction is generally caused by testing too early in the gestation period but can also be caused by poor extraction of cf-DNA from the maternal blood, resulting in a very low yield.
Inadequate extraction techniques
cf-DNA relates to small fragments of DNA and is typically present in low concentrations within blood plasma, making it an inherently difficult analyte to extract. As a result, the purification of cf-DNA must be highly sensitive and well-developed.
The challenge
Inadequate sample collection or preservation during transport.
The solution
cf-DNA/cf-RNA preservative tubes
- Preserve cf-DNA for 30 days at room temperature and ~8 days at 37 °C
- No plasma volume loss after transportation
- Prevent hemolysis
- Avoid apoptosis of blood cells and fragmentation of genomic DNA
- High quality and quantity of cf-DNA
Image Credit: Norgen Biotek Corp.
The challenge
Poor test sensitivity due to low fetal fraction or inadequate extraction methods.
The solution
Plasma/serum cell-free circulating DNA purification kits (Midi)
- Isolate inhibitor-free cf-DNA (circulating)
- Compatible with Norgen’s cf-DNA and Streck cf-DNA
- BCT® Tubes
- Purification is based on spin column chromatography using Norgen’s proprietary resin separation matrix
Image Credit: Norgen Biotek Corp.
The solution
Plasma/serum cfc-DNA advanced purification kit
- Spin column format
- Adaptable plasma and serum input volumes
- Minimal high molecular weight gDNA contamination in purified cfc-DNA
- Isolate inhibitor-free circulating cf-DNA
- Purify superior quantity and quality DNA in 45 minutes
- Compatible with fresh, preserved, or frozen serum/plasma prepared from blood collected on Norgen’s cf-DNA/cf-RNA Preservative Tubes, Cell-Free DNA BCT ®
- (Streck), Heparin, EDTA, or Citrate
- Automation capacities
Image Credit: Norgen Biotek Corp.
References and further reading
- Ishida, C. and Gupta, V. (2022). Genetics, Molecular Testing. (online) PubMed. Available at: https://www.ncbi.nlm.nih.gov/books/NBK560712/.
- Illumina. Types of NIPT Technology | Whole-genome sequencing vs targeted. (online) Available at: https://www.illumina.com/clinical/reproductive-genetic-health/nipt/labs/nipt-technology-types.html (Accessed 8 May 2022).
About Norgen Biotek Corp.
Norgen Biotek: Advancing science with best-in-class, scientist-backed innovations
Norgen Biotek is a fully integrated biotechnology company that focuses on providing complete workflows for molecular biology sample preparation and analysis. With a diverse portfolio of over 600 products, the company delivers high-performance, user-friendly, and cost-effective solutions.
Scientifically driven, industry trusted
Norgen kits cover a broad range of applications from collection and preservation to isolation and purification. Our expert R&D team continuously develops cutting-edge technologies that set new industry standards for RNA, DNA, protein, and exosomal isolation, ensuring superior yield, purity, and integrity from even the most challenging sample types.
Unparalleled performance
At the heart of Norgen’s success is its patented Silicon Carbide (SiC) Technology. This proprietary resin exhibits uniform binding affinity for all RNA species, regardless of molecular weight or GC content. This ensures the full diversity of small and microRNA are captured while eliminating the need for phenol extraction. This innovative technology sets Norgen kits apart from others, positioning them as leaders in RNA purification.
Comprehensive solutions for any challenge
Norgen is committed to providing high-quality kits capable of processing a wide range of sample types, from ultra-low input samples such as liquid biopsies to highly impure samples like stool or soil. Our sample collection and preservation devices for stool and saliva simplify handling by rendering samples non-infectious by preventing microbial growth and inactivating viruses, while our blood and urine preservation solutions ensure the stability of highly vulnerable cell-free nucleic acids.
To meet varying research demands, we offer multiple isolation methods including, but not limited to high-throughput and automation-ready magnetic bead-based formats. Additionally, our multiple-analyte kits enable the simultaneous purification of RNA, DNA, and proteins, maximizing data extraction from a single sample.
Norgen offers an extensive variety of TaqMan qPCR kits designed for molecular diagnostic use, including lyophilized kits for easy shipping. Library preparation kits for both DNA and RNA samples are also available to support genomic applications. Norgen recently released their EXTRAClean technology, an innovative solution that minimizes background noise while providing high-purity RNA, significantly enhancing NGS performance.
Why choose Norgen?
- Scientist-Driven Innovation – Developed by leading experts in molecular biology
- Proven Quality & Reliability – ISO 9001 and ISO 13485 certified, indicating a commitment to selling high-quality products
- Global Presence – We ship to over 150 countries and have a network of 60+ distributors
- Award Winning – Norgen Biotek Corp. was honored with the 2021 Innovative Leaders Award, and recognized as the 2024 Rapid Star Award Winner in the PCR category.
- Innovative Products – Hold more than thirty issued and pending patents for products presenting solutions for all research & clinical applications
Driven by a mission to accelerate scientific discoveries, Norgen Biotek actively supports researchers by providing educational resources, technical workshops, and application notes. Their NorBlog serves as a hub for the latest scientific discoveries, protocol optimizations, and industry trends.
Explore Norgen Biotek’s innovative solutions today and take your research to the next level.
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