Service
Non-Invasive Prenatal Testing (NIPT)
Early detection of chromosomal abnormalities through cell-free fetal DNA analysis
Key advantages
Non-invasive sample collection via maternal blood draw
High sensitivity and specificity for common aneuploidies (e.g., trisomy 21, 18, 13)
Detection of sex chromosome abnormalities and select microdeletions
Early testing from 10 weeks of gestation
Reduces need for invasive diagnostic procedures like amniocentesis
Supports informed prenatal decision-making and pregnancy management
Compatible with multiple maternal and fetal conditions
Technical specifications
Sequencing depth: High-depth targeted sequencing optimized for low fetal fraction (<4%)
Variant detection: Aneuploidies, CNVs, select microdeletions
Bioinformatics pipeline: Proprietary algorithms for fetal fraction estimation, read alignment, and variant calling
Data output: Raw sequencing data (FASTQ), aligned reads (BAM), and detailed clinical reports
Platforms: Illumina NovaSeq 6000, Illumina NovaSeq X Plus, MGI DNBSEQ-T7, and beyond
Sample type: Maternal plasma (cell-free DNA)
Turnaround time: Typically 5-7 business days