NIPD-Single Gene

Introduction

AssuriT-MD is a cutting-edge noninvasive prenatal diagnostic (NIPD) solution leveraging next-generation sequencing technology for early detection of monogenic disorders. Utilizing haplotype-based analysis of cell-free fetal DNA (cffDNA), it enables accurate diagnosis as early as 7 gestational weeks without invasive procedures, covering multiple high-incidence genetic diseases including thalassemia, DMD, and SMA.

Technology Highlights

SEGSNP Capture Design: Simultaneously enriches:

• Full exons and ±200bp intronic ranges of target genes

• Flanking 1 Mb regions with high-frequency SNPs for fetal haplotype reconstruction

• Autosome SNPs/Y-specific loci for fetal fraction quantification and sex determination

Early Detection: Robust sensitivity at ≥7 gestational weeks.

Clinical-Grade Accuracy: Validated in 500+ pedigrees (100% concordance with invasive testing).

Disease-Optimized Panels: Validated protocols for 13 monogenic disorders.

Clinical Indications

Prenatal diagnosis for families with established monogenic disorder history

Early-stage fetal genetic risk assessment for high-penetrance disorders

Cases with contraindications to invasive procedures (e.g., placental abruption, bleeding diatheses)

Target Population

Families with prior affected children carrying pathogenic variants in test-included disorders

Couples with confirmed carrier status through preconception screening (require grandparents' samples)