Our Mission

The Global NIPT Consortium is a group founded by Illumina and other institutions with experience in cell free DNA (cfDNA)-based prenatal screening for chromosome abnormalities (also known as non-invasive prenatal testing, NIPT). Its members have a significant interest in creating a global forum to generate evidence and awareness around the utility and best practices of NIPT for conditions beyond the common aneuploidies of trisomies 21, 18, and 13 (Expanded NIPT).

Who we are

Founded by Illumina and other institutions with experience in Expanded NIPT, the Global NIPT Consortium has a significant interest in creating a global forum to generate evidence and awareness around the utility and best practices for such testing.

We believe that performing NIPT for all chromosome abnormalities, including rare autosomal aneuploidies and copy number variations (CNVs), has the potential to provide pregnant women with more information about the health of the pregnancy, thereby potentially improving pregnancy management and outcomes.

Our initial goal is to publish on the utility and best practices of Expanded NIPT for rare autosomal aneuploidies and CNVs, as well as to develop resources and tools to aid the medical community in their understanding of these results and their discussions with patients.

What is Expanded NIPT?

When NIPT first became available in 2011, it was limited to trisomy 21 and eventually added in the ability to screen for trisomies 18 and 13 and certain sex chromosome abnormalities (SCAs). Since that time, over 700,000 results for expanded NIPT have been reported in 19 peer reviewed publications1. Expanded NIPT enables a comprehensive view of all chromosomes, including the common trisomies (involving chromosomes 21, 18, and 13), rare autosomal aneuploidies, SCAs, and CNVs of at least 7Mb. The collective incidence of these conditions has been shown to be greater than that of trisomies 18 and 13 with a subsequent risk of adverse outcomes, including miscarriage, fetal growth restriction, stillbirth, uniparental disomy and associated risks, spontaneous preterm birth, and abnormal fetal karyotype with associated phenotype.2,3,4 In addition, a recent publication showed that, of their screen positive results, 25% would have been missed when limiting NIPT to trisomies, 21, 18, and 13 and the SCAs.5 Expanded NIPT offers the opportunity to screen for these collectively common conditions that can impact the health and management of a pregnancy.

See what the experts are saying...

In the present study, the rare fetal chromosome anomalies as a group were more frequent than trisomy 13 and almost as frequent as trisomy 18, confirming previous studies.2
In summary, relevant abnormal feto-maternal findings were recorded in…75% [of] single RAT* samples with outcome data available…3
Most respondents (90.4%) were glad to have been offered the choice between GW-NIPT and targeted NIPT; 76.5% chose GW-NIPT…No differences were found in anxiety between women choosing GW-NIPT and targeted NIPT. Most respondents were favorable toward future prenatal screening for a range of conditions, including life-threatening disorders, mental disabilities, disorders treatable in pregnancy and severe physical disabilities, regardless of their choice for GW-NIPT or targeted NIPT…In conclusion, women who chose first-tier NIPT were satisfied with the choice between GW-NIPT and targeted NIPT, and most women were favorable toward a broader future screening offer.6
In conclusion, about one in every 275 women in a general obstetric population opting for GW-NIPT receives an additional finding. The majority of additional findings identified by GW-NIPT have clinical impact. Most fetal chromosomal aberrations are pathogenic and associated with severe clinical phenotypes. (Assumed) CPM is significantly associated with adverse perinatal outcomes, requiring tailored obstetric care.7
NIPT for aneuploidies of all autosomes and large CNVs of at least 7 Mb has a low "non-reportable"-rate (<0.2%) and allows the detection of additional conditions of clinical significance…Our results support previous work showing that NIPT detection of CNVs has clinical value that may extend beyond the detection of fetal anomalies.8
We suggest that if cfDNA testing uncovers CPM, this does not mean cfDNA testing is ‘false positive.’ The detection of CPM needs adequate laboratory work and specific genetic counseling, including backup risk for low-level true fetal mosaicism and a higher risk for poor pregnancy outcomes.9

*RAT – rare autosomal trisomy, CPM – confined placental mosaicism, GW-NIPT – genome-wide NIPT

    1. Data on file. Illumina, Inc. 2021
    2. Van Opstal et al (2018). Origin and Clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPT: results of the TRIDENT study. Genetics in Medicine, 20(5): 480-485.
    3. Pertile et al (2017). Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease. Science Translational Medicine, 9(405): 1-11.
    4. Scott et al (2018). Rare autosomal trisomies: Important and not so rare. Prenatal Diagnosis, 38(10): 765-771.
    5. Soster et al (2021). Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants. Genetics in Medicine, 23(7): 1349-1355.
    6. van der Meij et al (2023). Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program. Eur J Hum Genet, 31(5):555-561.
    7. van Prooyen Schuurman et al (2022). Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study. Am J Hum Genet, 109(6):1140-1152.
    8. Harasim T et al (2022). Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations. J Clin Med, 11(2):372.
    9. Basaran et al (2022). Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies. Genes (Basel), 13(12):2389.