NIPT plus（AssuriT-A⁺）

Introduction

Research indicates that the prevalence of pathogenic copy number variations (pCNVs) in fetuses ranges from 1.6% to 1.7%, substantially exceeding the incidence rates of Trisomy 21, Trisomy 18, and Trisomy 13. Furthermore, pCNVs carry a high recurrence risk and represent a major genetic etiology of fetal congenital malformations, intellectual disabilities, and other birth defects. To date, no effective therapies exist for these disorders.NIPT-plus, an advanced version of NIPT, achieves this expansion without altering clinical procedures, increasing blood collection, or extending the reporting timeline. Through experimental optimization and enhanced algorithms, NIPT-plus can detect not only Trisomy 21, 18, and 13 but also other chromosomal aneuploidies and microdeletions/microduplications.

Why Choose AssuriT-A⁺

1.Non-invasive Sampling: Only 8–10 mL of maternal peripheral blood is required, significantly mitigating risks of infection and miscarriage inherent to invasive procedures such as amniocentesis.

2.Comprehensive Genomic Coverage: Simultaneously detects over 120 prevalent chromosomal aneuploidies, microdeletion syndromes, and microduplication syndromes.

3.High Resolution Analysis: Identifies microdeletions and microduplications exceeding 3 million base pairs (3 Mb) with high specificity.

4.Robust Quality Control: Incorporates accurate, gender-agnostic fetal fraction quantification via single-nucleotide polymorphism (SNP) profiling.

5.Automated Clinical Interpretation: Generates ClinGen-compliant annotations for candidate copy number variants (CNVs).

Applicable Clinical Scenarios

• Singleton or twin pregnancies at gestational age ≥9 weeks

• Presence of ultrasonographic soft markers