Global NIPT consortium members

By Ashleigh Bouguenon

12 June 2023

Non-Invasive Prenatal Testing (NIPT) is a prenatal screening method that provides information about the risk of chromosome abnormalities by analysing placental DNA that is circulating in a pregnant woman’s blood. Typically, NIPT screens for the most common chromosome abnormalities, including Trisomy 13, 18, 21 and certain sex chromosome disorders.

Expanded or Genome wide NIPT allows for the detection of common chromosomal aneuploidies and provides a comprehensive view of all 23 chromosome pairs. It enables the identification of rare autosomal aneuploidies (RAAs), sex chromosome aneuploidies (SCAs), as well as partial deletions and duplications (also referred to as copy number variations CNVs) that are larger than or equal to 7 Mb. These additional chromosomal abnormalities have been associated with clinically relevant outcomes such as developmental delays, intellectual disabilities, structural anomalies, and adverse pregnancy outcomes.

Next Biosciences’ clinical and scientific team members are part of a Global NIPT Consortium, founded by Illumina and other institutions who have many years of experience offering NIPT. This consortium recently published an article which describes a multi-cohort, global retrospective study that looked at the clinical outcomes of cases with a high-risk NIPT result for a Rare Autosomal Aneuploidy:

A multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes.

The primary aim of the Global NIPT consortium is to generate evidence and awareness regarding the utility and best practices of expanded NIPT. This article will contribute to the existing literature regarding the impact of expanded NIPT findings on the health and management of pregnancies. You can read more about the Global NIPT Consortium here:  Global NIPT Consortium