NIPT - EabhaSeq Blog (Page 2)

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NIPT

A collection of 15 posts

AlphaGenome and the Future of Genomic AI - What It Means for Prenatal Diagnostics

AlphaGenome and the Future of Genomic AI - What It Means for Prenatal Diagnostics

In January 2026, DeepMind published AlphaGenome in Nature - a genomic AI model that can process up to one million bases of DNA in a single pass and predict gene expression, chromatin accessibility, histone modifications, transcription factor binding, and three-dimensional genome folding from sequence alone. The model's weights

The Reference Materials Problem in Prenatal Screening

The Reference Materials Problem in Prenatal Screening

In laboratory medicine, reference materials are the foundation of trust. They are well-characterized samples used to validate that a diagnostic test performs as expected - measuring the right thing, at the right sensitivity, with acceptable accuracy. Every clinical chemistry analyzer, every PCR-based infectious disease test, and every tumor marker assay

What is Synthetic cfDNA and Why Does it Matter for NIPT Validation?

What is Synthetic cfDNA and Why Does it Matter for NIPT Validation?

Non-invasive prenatal testing (NIPT) has transformed how we screen for chromosomal conditions during pregnancy. By analyzing fragments of cell-free DNA (cfDNA) circulating in a pregnant person's blood, clinicians can detect conditions like Down syndrome with remarkable accuracy - all from a simple blood draw. But behind every reliable