The Core of Prenatal Genome Analysis: NGS Library Preparation Kit
Celemics: Enabling Precision Genomics from the Start
From prenatal genetic screening to advanced fetal diagnostics, cfDNA sequencing has become one of the most powerful tools in modern precision medicine. However, every accurate analysis begins with one essential step — a precise and reliable library preparation process.
The Celemics NGS Library Preparation Kit supports researchers and clinical laboratories by providing high-quality data with efficient enzymatic reactions, low bias, and excellent conversion efficiency even from low amount (or low-input) DNA samples.
When combined with Celemics’ Target Enrichment technology, the kit enables high-sensitivity and high-efficiency targeted sequencing within a single workflow.
Celemics provides a complete solution for cfDNA sequencing, NIPT analysis, and clinical-grade library construction, empowering researchers worldwide to achieve faster and more accurate genomic insights.
Evolution of Non-Invasive Prenatal Testing (NIPT)
Traditional prenatal genetic testing relied on invasive methods such as amniocentesis or chorionic villus sampling. While highly accurate, these methods carried risks of fetal injury or miscarriage.
Since the 2010s, Non-Invasive Prenatal Testing (NIPT) has rapidly become a preferred alternative by analyzing cell-free DNA (cfDNA) circulating in maternal plasma.
Approximately 5–15% of cfDNA in maternal blood originates from the placenta, known as the fetal cfDNA fraction.
By analyzing this fetal fraction, NIPT can detect chromosomal abnormalities, sex chromosome aneuploidies, and copy number variations (CNVs) with high accuracy.
To ensure successful NIPT results, each step of the workflow — cfDNA extraction, library preparation, target enrichment, and sequencing — must be optimized for sensitivity and reproducibility.
Biological Characteristics of cfDNA
cfDNA consists of short DNA fragments (typically 160–180 bp) released into the maternal bloodstream during cell apoptosis or necrosis.
Because these fragments exist in extremely small quantities and are highly fragmented, minimizing DNA loss during library construction is crucial for ensuring data quality and sensitivity.
| Parameter | cfDNA | |
|---|---|---|
| Origin | Placenta-derived and maternal apoptotic cells | |
| Average fragment length | ~160 bp | |
| Concentration | 1–10 ng/mL in maternal plasma | |
| Key applications | NIPT, fetal chromosomal abnormality detection | |
NGS-Based Approaches for cfDNA Analysis in NIPT
In NGS-based prenatal testing, cfDNA is first converted into a sequencing-ready library and then analyzed using either Whole Genome Sequencing (WGS) or Targeted Sequencing.
Whole Genome Sequencing (WGS): Detects overall chromosomal abnormalities and CNVs across the genome.
Targeted Sequencing: Focuses on specific regions or chromosomes for detecting common aneuploidies such as trisomy 21, 18, and 13.
Both strategies rely heavily on the efficiency and consistency of the library preparation step, especially when working with low-input cfDNA.
Technical Challenges in cfDNA Library Preparation
cfDNA library preparation presents unique challenges compared to genomic DNA (gDNA).
To achieve accurate results, the preparation process must address several key technical issues:
Extremely low DNA input – often less than a few nanograms per sample.
Highly fragmented DNA – requires precise adapter ligation and repair steps.
GC bias and PCR duplication – can compromise sensitivity and accuracy.
Sample loss – must be minimized throughout the workflow to preserve the fetal fraction.
Thus, an effective Library Preparation Kit should integrate optimized end repair, A-tailing, adapter ligation, amplification, and purification processes to ensure maximum recovery and uniformity.
Typical NIPT Library Preparation Workflow
cfDNA Extraction – Isolate high-quality cfDNA from maternal plasma.
End Repair & A-tailing – Polish DNA ends and add A-overhangs.
Adapter Ligation – Ligate sequencing-compatible adapters.
PCR Amplification – Amplify libraries efficiently while minimizing bias.
Hybridization Capture (optional) – Capture target regions or chromosomes.
Sequencing & Bioinformatics Analysis – Detect CNVs and aneuploidies with precision.
Consistency and efficiency at each step are crucial for accurate detection of fetal cfDNA within the maternal cfDNA background.
Celemics Library Preparation Kit: Precision and Performance for cfDNA and NIPT
The Celemics NGS Library Preparation Kit is optimized specifically for challenging cfDNA samples used in Non-Invasive Prenatal Testing (NIPT) and related clinical research.
The kit demonstrates high efficiency for low amount (or low-input) DNA samples, minimizing sample loss and ensuring stable library generation.
Key features:
Optimized enzymatic formulation for fragmented DNA repair and adapter ligation
Uracil-tolerant polymerase system reducing GC bias and duplication
High conversion efficiency from cfDNA to sequencing-ready libraries
Compatibility with both short-read and long-read NGS platforms
Seamless integration with Celemics Hybridization Capture technology for targeted sequencing
With high sensitivity, reproducibility, and compatibility across NGS platforms, the Celemics Library Preparation Kit (See Detail) provides accurate and dependable results for prenatal genomic analysis.
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