Non-Invasive Fetal Whole Genome Sequencer PrenatalSeq Gains CE Certification: Complete Fetal Genome Reconstruction From Maternal Plasma
Illumina launches non-invasive fetal whole genome sequencer PrenatalSeq, completely reconstructing fetal genome from cell-free fetal DNA in maternal plasma, covering over 5,000 monogenic inherited diseases.
Illumina announced on December 2 that its non-invasive fetal whole genome sequencer PrenatalSeq has received CE certification. The device can completely reconstruct the fetal genome from cell-free fetal DNA in maternal plasma after 12 weeks of gestation, requiring only 10 milliliters of maternal peripheral blood, covering over 5,000 known monogenic inherited diseases.
Unlike existing non-invasive prenatal testing that primarily screens for chromosomal abnormalities, PrenatalSeq extends detection to single nucleotide variants, small insertions/deletions, and structural variants. In 5,000 clinical validations, the system achieved 99.7% detection rate for chromosomal aneuploidies and 96.2% for monogenic diseases.
Illumina's CEO said PrenatalSeq will enter the European market in Q1 2030, priced at approximately $1,500. US FDA approval is expected in the second half of 2030.
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