Myriad Genetics Inc, Salt Lake City, has enhanced its Prequel prenatal screen to include all 23 chromosome pairs rather than just the standard five chromosomes (13, 18, 21, X, Y) previously tested. The expanded Prequel screen will be available to clinicians and patients starting in February.

“The goal of noninvasive prenatal screening is to provide women with information about the health of the pregnancy,” says James Goldberg, MD, a board-certified medical geneticist and chief medical officer for Myriad Women’s Health. “Our expanded Prequel prenatal screen now provides patients with a comprehensive assessment of all 23 chromosome pairs for aneuploidies, which improves the detection of aneuploidies by about 30%, expanding the clinical utility of the screen.”1

Prequel prenatal screen with expanded aneuploidy analysis can potentially improve birth outcomes by identifying more pregnancies at risk for birth defects and syndromes, as well as those at risk for pregnancy complications due to chromosome changes in the placenta. Better detection improves the opportunity for better monitoring, specialized ultrasounds, and targeted prenatal diagnosis.

“In addition to testing all 23 chromosome pairs, Prequel has a test failure rate of 0.1%, which means patients receive reliable results the first time without the need for retesting,” Goldberg adds.

For further information, visit Myriad Genetics.

Reference

  1. Pescia G, Guex N, Iseli C, et al. Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases. Genet Med. 2017;19(2):169–175; doi:10.1038/gim.2016.72.

Featured image: Three-dimensional rendering of human chromosomes. Illustration by Sashkinw courtesy Dreamstime.