NIPT-eWES（ full content ）

Introduction

AssuriT-eWES-N redefines noninvasive prenatal testing (NIPT) by leveraging cell-free fetal DNA (cffDNA) to deliver comprehensive fetal genomic screening. This assay extends beyond standard NIPT to detect chromosomal aneuploidies, genome-wide CNVs, monogenic disorders (dominant/recessive), UPD, mitochondrial mutations, and zygosity determination without paternal samples—setting a new benchmark for noninvasive prenatal care.

Technology Highlights

Deep Sequencing: 200x depth (30 Gb data) with UMI error correction.

Comprehensive detection:

• Chromosome aneuploidies (T13/T18/T21/sex chromosomes)

• Genome-wide CNVs (>3 Mb)

• Monogenic disorders (dominant via fetal mutation, recessive via maternal carrier + fetal haplotype)

• UPD subtypes (mat/pat origin)

• Mitochondrial variants (>5%)

• Dizygotic twin zygosity

Full Automation: Supports end-to-end workflow from extraction to reporting

Clinical Indications

Routine prenatal screening with expanded scope

High-risk pregnancies (advanced maternal age, abnormal serum screening)

Fetal structural anomalies contraindicated for invasive procedures

Twin pregnancies requiring zygosity and individual risk assessment

Target Population

All pregnant women seeking maximal prenatal genomic insights

Patients with prior inconclusive NIPT results

Twin pregnancies (especially dizygotic)

Families with history of genetic disorders or adverse pregnancy outcomes