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    Noninvasive prenatal testing: A new standard of care?


    Many studies have validated NIPT to accurately detect trisomy 13, trisomy 18, and trisomy 21 using shotgun sequencing and massively parallel genomic sequencing (MPGS) while other researchers have capitalized on the power of other next-generation sequencing (NGS) modalities to detect fetal autosomal trisomies, sex chromosome aneuploidies, and triploidy.5-7 In the first part of this 2-part genetic-technology review, we will discuss the current NIPT landscape and compare/contrast NIPT technologies. 

    Option 1: MaterniT21

    The first NIPT to come to the commercial market was MaterniT21, which was developed by Sequenom and designed for trisomy 21 detection. It was released in 2011, followed in 2012 by MaterniT21 PLUS, which has the ability to diagnose not only trisomy 21, but also trisomy 13 and 18. Sequenom is also utilizing MPGS for their test.

    In theory, NGS allows for multiple studies of multiple pieces/regions of DNA to be analyzed in parallel (at the same time), which allows for efficient evaluation of the whole genome rather than just specific targets that are representative of a discrete chromosome, as is done with fluorescence in situ hybridization (FISH). In Sequenom’s initial clinical validation studies of nearly 2000 specimens for each trisomy, they were able to achieve almost 100% sensitivity and specificity; trisomy 21: 99.1%/99.9%, trisomy 18: >99.9%/99.6%, trisomy 13: 91.7%/99.7%, Down syndrome and other trisomies: >99.9% detection.8-10

    Option 2: Verifi

    The next test to come to market was Verinata Health’s Verifi, which similarly capitalizes on the power of MPGS but also utilizes a propriety algorithm called SAFeR. According to the Verinata Health website, the SAFeR method calculates a normalized chromosome value (NCV) for each chromosome, thereby reducing data variation. They state that in a large-scale study population (no reference is provided on their website), “approximately 0.2% to 0.6% of results were classified as ‘Aneuploidy Suspected’ for each particular chromosome.” Because both aneuploid and euploid samples can be categorized as “Aneuploidy Suspected,” the chances of a false positive are higher without the SAFeR method.11

    By expanding the sensitivity and overall capability to detect aneuploidies, Verinata Health openly states that their test can be used for twins. However, it would not be possible to distinguish which twin has an abnormal result without further invasive testing.


    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 ...


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