Overview

Minagene’s NIPT Advanced utilizes massively parallel next-generation sequencing and advanced bioinformatics to perform comprehensive non-invasive prenatal testing via analysis of cell-free fetal-derived circulating cell-free DNA from maternal peripheral blood. Beyond conventional NIPT, it facilitates multi-dimensional genomic profiling
to enable detection of both common and rare autosomal aneuploidies, unbalanced chromosomal rearrangements, and pathogenic copy number variants.

Methodology

Unique molecular identifier-based sequencing of circulating cfDNA at ≥30X depth of coverage allows for whole-genome haplotype construction and improved variant resolution. Proprietary algorithms leveraging Bayesian likelihood ratios evaluated against comprehensive genome-wide genotype and phenotype databases achieve precise risk estimation for aneuploidies encompassing all autosomes, sex chromosomes, mitochondrial disorders, and pathogenic CNVs ≥3Mb.

Key Highlights of Minagene's Advanced NIPT

  • Screens for rare autosomal aneuploidies undetected by standard NIPT
  • Identifies incidental findings such as pathogenic homozygous/hemizygous CNVs
  • Addresses scenarios requiring assessment of uniparental disomy or triallelic inheritance
  • Provides results within a short period accompanied by genetic counseling from board-certified specialists
  • Presents a safe alternative to invasive testing when abnormal ultrasound findings or elevated risk profiles warrant advanced prenatal diagnosis

When to consider Minagene’s Advanced NIPT

Minagene’s NIPT Advanced Test is indicated for high-risk patients such as those with positive family histories, advanced maternal age, abnormal ultrasonography findings, history of recurrent pregnancy loss, or carrier status of translocations. It represents a definitive frontline examination when definitive diagnosis of sizable fetal genomic imbalances is imperative.