Noninvasive Prenatal Test Assesses Risk for Aneuploidies

A noninvasive prenatal test (NIPT) employs next-generation sequencing to assess risk for multiple fetal chromosomal aneuploidies from a single blood sample.

Laboratory Corporation of America Holdings (LabCorp; Burlington, NC, USA), a pioneer in diagnostic testing, has announced the availability of the “informaSeq Prenatal Test”—an advanced, noninvasive, next-generation prenatal screening assay that can assess risk for multiple fetal chromosomal aneuploidies from a single maternal blood draw. In addition, there are testing options specifically for several common sex-related aneuploidies. The test is offered through Integrated Genetics, part of the LabCorp Specialty Testing Group of laboratories that offer advanced esoteric and genomic testing (LabCorp also conducts clinical trials testing through its LabCorp Clinical Trials division).

The American Congress of Obstetricians and Gynecologists (ACOG) and the Society of Maternal Fetal Medicine (SMFM) have recognized the tremendous potential of offering cell-free DNA (cfDNA) testing to patients at increased risk of aneuploidy. The informaSeq Prenatal Test is performed using Illumina sequencing technology to generate test data, offering high detection rates (sensitivity) and low false positive rates (specificity), even in samples with a lower fraction of fetal DNA fragments.

In addition to the informaSeq Prenatal Test, Integrated Genetics offers reproductive genetic screening and diagnostic options to support a physician’s pregnancy management protocols. To help physicians and patients understand the results of those tests and identify risk factors, Integrated Genetics employs a large network of Board-certified genetic counselors, helping physicians and patients make more informed decisions.

“The noninvasive informaSeq Prenatal Test provides clinicians with another option to aid in the diagnosis and care of their patients,” said Dr. Mark Brecher, LabCorp’s chief medical officer, “This test is the latest example of LabCorp's continued commitment to introduce diagnostic tools that deliver advanced clinical information, enhance physician decision making, and improve patient outcomes.” “As a global leader in reproductive and genetic health solutions, we are very pleased to support this NIPT offering by LabCorp,” said Tristan Orpin, senior vice president and general manager of Reproductive and Genetic Health for Illumina, “We are committed to making NIPT more broadly available and the launch of this product will help expand access.”

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