The test provides fetal chromosome, single-gene, patient carrier, and fetal RhD screening from a single blood draw as early as eight weeks gestation.
Myriad Genetics announced the full commercial launch of its FirstGene Multiple Prenatal Screen, a laboratory test that performs four prenatal genetic screens simultaneously from one blood sample, according to a company press release.
The test can be administered as early as eight weeks gestation and provides results in approximately 10 days. It integrates fetal chromosome screening, fetal single-gene screening, patient carrier screening, and fetal RhD screening into one report. According to the company, the screen has an analytical sensitivity greater than 98% and an analytical specificity greater than 99%.
“The FirstGene screen represents the next generation of prenatal genetic screening, using a novel approach to derive a wide range of clinical insights from a single blood sample,” says Brian Donnelly, chief commercial officer at Myriad Genetics, in a release.
Test Components and Performance
The assay includes a fetal chromosome screen to assess risk for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), sex chromosome aneuploidies, and 22q11.2 microdeletion (DiGeorge syndrome). It also features a fetal single gene screen for 19 recessive conditions that does not require a sample from a reproductive partner, according to Myriad Genetics.
Additionally, the patient carrier screen evaluates the pregnant individual for 20 recessive conditions, including cystic fibrosis, spinal muscular atrophy, sickle cell disease, and fragile X syndrome. The fetal RhD screen assesses compatibility between the patient and the fetus by evaluating the Rhesus D status, the company says.
Streamlining Prenatal Care
The screen was developed using a data-driven approach that involved analytical testing and performance validation, according to the company. Myriad Genetics reports that the test is designed to streamline prenatal screening by combining multiple modalities into a single order without the need for a reproductive partner sample.
“The FirstGene screen allows obstetricians to order multiple recommended prenatal genetic screens from one maternal blood sample, helping clinicians deliver more complete information earlier in pregnancy and support timely, informed conversations with patients,” says Dr Dallas Reed, principal medical advisor at Myriad Genetics, in a release.
The company reports that the FirstGene screen is now part of a portfolio of prenatal testing options that includes other screens for carrier status and fetal gender.
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