/ /

  • linkedin
  • Increase Font
  • Sharebar

    Noninvasive prenatal testing: A new standard of care?


    Option 3: Harmony Prenatal Test

    At approximately the same time that Verifi was released, Ariosa Diagnostics launched the Harmony Prenatal Test. That technique addresses one of the main concerns about MPGS, which is that it requires a large amount of DNA for sequencing because of the requirement to analyze the entire genome.

    The Harmony Prenatal Test utilizes a proprietary technology known as digital analysis of selected regions (DANSR), which sequences loci from only the chromosomes under investigation. As such, the assay requires approximately 10 times less DNA sequencing than MPGS approaches. To further enrich their platform, Ariosa Diagnostics also integrated their own statistical algorithm, fetal-fraction optimized risk of trisomy evaluation (FORTE). Essentially, the algorithm integrates age-related risks and the percentage of fetal DNA in the sample to provide an individualized risk score for trisomy. 

    In what some view as one of the landmark studies demonstrating the utility of NIPT, researchers at the University of London screened subjects who were at risk of aneuploidies and had undergone CVS. The DANSR/FORTE combined analysis distinguished all cases of trisomy 21 and 98% of trisomy 18 cases from euploid pregnancies.12

    In an online commentary about the study, the senior author noted that plasma samples were obtained from high-risk pregnancies with some evidence of impaired placental function. (As previously discussed, cfDNA is believed to originate in the placenta.) “As such, the ability to detect aneuploidy with cfDNA is dependent upon assay precision and fetal DNA percentage in the sample rather than the prevalence of the disease in the study population.”13

    That issue was highlighted in a recent report about a study in which aneuploid samples were significantly more likely to not return a result; the number of aneuploidy samples was especially increased among samples with low fetal fraction.14


    Brian A. Levine, MD, MS, FACOG
    Dr. Levine is Practice Director at the Colorado Center for Reproductive Medicine, New York, New York.
    Dan Goldschlag, MD, FACOG
    Dr. Goldschlag is an assistant professor of Clinical Obstetrics and Gynecology and Assistant Professor of Clinical Reproductive Medicine ...


    You must be signed in to leave a comment. Registering is fast and free!

    All comments must follow the ModernMedicine Network community rules and terms of use, and will be moderated. ModernMedicine reserves the right to use the comments we receive, in whole or in part,in any medium. See also the Terms of Use, Privacy Policy and Community FAQ.

    • No comments available


    Latest Tweets Follow