Myriad Genetics has unveiled pioneering research results for their non-invasive prenatal testing (NIPT) technology at the Society for Maternal-Fetal Medicine Conference, marking a significant advancement in early pregnancy genetic screening capabilities.
Revolutionary Early Detection Technology
The company's Prequel® Prenatal Screen with AMPLIFY™ technology has emerged as the first and only prenatal cell-free DNA (cfDNA) screening test capable of providing results at just eight weeks' gestational age. This technological breakthrough demonstrates a remarkable 2.3-fold average increase in fetal fraction detection, enabling healthcare providers to gather critical genetic information significantly earlier in pregnancy than previously possible.
Comprehensive Screening Capabilities
The enhanced screening platform can assess various chromosomal conditions, including:
- Down syndrome
- Edwards syndrome
- Patau syndrome
- Sex chromosome abnormalities
- Expanded aneuploidies
- Select microdeletions, including 22q11.2
Advanced Mosaic Detection Method
Dale Muzzey, PhD, Chief Scientific Officer at Myriad Genetics, presented additional research focusing on improving the detection of sex chromosome anomalies (SCA). The team has developed a novel "depth trajectory" method within their upcoming FirstGene™ product, designed to identify mosaic maternal aneuploidy by analyzing the relationship between read depth and DNA fragment size.
This innovation addresses a significant challenge in current cfDNA screening assays, which often show relatively low positive predictive value (PPV) for SCA calls due to various factors including statistical error, confined placental mosaicism, and maternal mosaicism.
Clinical Impact and Patient Benefits
The ability to conduct genetic screening at eight weeks gestation represents a substantial improvement in prenatal care timelines. This earlier screening window enables:
- Earlier risk assessment for chromosomal abnormalities
- Opportunity for chorionic villus sampling at 10 weeks when clinically indicated
- More time for informed decision-making regarding pregnancy management
- Alternative to traditional amniocentesis typically performed at 15 weeks
The advancement in testing capabilities empowers healthcare providers and patients with crucial genetic insights earlier in pregnancy, potentially leading to more timely and informed clinical decisions regarding prenatal care and management strategies.
