New Test Delivers Four Prenatal Genetic Screens from One Blood Sample

Early, consolidated insights may help clinicians coordinate first-trimester care more efficiently and reduce fragmented laboratory workflows. A new test now combines four guideline-supported prenatal genetic screens into a single maternal blood draw as early as eight weeks’ gestation.

Myriad Genetics (Salt Lake City, UT, USA) has launched FirstGene Multiple Prenatal Screen, presented as the only laboratory test capable of performing four prenatal genetic screens simultaneously from a single maternal blood sample. The test is designed to simplify a traditionally fragmented screening process by providing one integrated report, with results expected in approximately 10 days. According to the company, testing does not require a sample from the reproductive partner.

The screen consolidates four prenatal screening modalities into a single assay. It provides fetal chromosome screening for common aneuploidies, including trisomies 21, 18, and 13, sex chromosome aneuploidies, and 22q11.2 microdeletion. It also includes fetal single-gene screening for 19 common, actionable recessive conditions. In addition, the assay offers patient carrier screening for 20 genetic conditions, including cystic fibrosis, spinal muscular atrophy, sickle cell disease, and fragile X syndrome. A fetal RhD screen is also included to assess RhD compatibility.

Performance metrics presented by Myriad indicate greater than 98% analytical sensitivity and greater than 99% analytical specificity for the overall screen. By component, the fetal chromosome screen is cited at greater than 99% analytical sensitivity and specificity; the fetal single-gene screen at greater than 98% analytical sensitivity and greater than 99% analytical specificity; the patient carrier screen at greater than 99% analytical sensitivity and specificity; and the fetal RhD screen at greater than 99% analytical sensitivity and specificity for copy number variant calling. Analytical validation for the test was published in Clinical Chemistry.

The introduction of FirstGene expands Myriad Genetics' prenatal offering, which also includes the Prequel Prenatal Screen, Foresight Carrier Screen, and SneakPeek Early Gender Test. The company states the combined approach is intended to help clinicians deliver actionable insights earlier in pregnancy.

“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. Providing four key prenatal genetic results with a competitive turnaround time helps clinicians make informed decisions during a patient’s pregnancy. One order. One draw. One report. Four simultaneous screens,” said Brian Donnelly, Chief Commercial Officer at Myriad Genetics.

“As an OB/GYN, I know that in prenatal care, timing and access matter. Every additional test, blood draw or follow-up appointment can create friction for patients and providers alike and may delay access to important information that helps patients better understand their pregnancy. 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,” said Dallas Reed, MD, Principal Medical Advisor at Myriad Genetics.