Noninvasive Prenatal Test Screens Blood for Chromosomal Abnormalities

Physicians will have access to a new noninvasive prenatal test, which uses cell-free fetal DNA in circulating maternal blood.

The test, called Panorama, uses cell-free fetal DNA in circulating maternal blood to screen for chromosomal abnormalities associated with trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and monosomy X (Turner syndrome). Panorama can be used as early as the ninth week of pregnancy.

Quest Diagnostics (Madison, NJ, USA), a diagnostic information services company, and Natera (San Carlos, CA, USA), an innovator in prenatal genetic testing, announced that Quest Diagnostics will offer physicians access to Panorama, the new noninvasive prenatal test developed by Natera.

Physician will be able to forward specimens for testing to Natera's Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory in San Carlos (CA, USA), which developed and validated the lab-developed Panorama test. The test will be made available to physician clients of Quest Diagnostics in certain regions in March and nationwide in the United States in April 2013.

In December 2012, the American Congress of Obstetricians and Gynecologists (ACOG) issued a medical opinion stating that cell-free fetal DNA testing is one option that can be used as a primary screening test in women at increased risk of aneuploidy. It may also be offered as a follow-up test for women with a positive first-trimester or second-trimester screening test result.

A “low risk” Panorama test result indicates a lower likelihood that a pregnancy is affected. With this information, a woman may consider, in consultation with her physician and results of other medical assessments, whether to pursue or forgo invasive diagnostic testing, which carries a slight risk of miscarriage. A “low risk” Panorama result does not guarantee an unaffected pregnancy.

"Cell-free fetal DNA testing is a significant advance in prenatal screening," said Charles Strom, MD, PhD, senior medical director, genetics, Quest Diagnostics Nichols Institute. "By offering physicians and women access to Panorama, Quest Diagnostics is delivering on its commitment to provide clinically important innovations aligned with guideline-based care."

Natera is a leading genetic testing company that has developed a proprietary bioinformatics-based technology (NATUS) to deliver accurate and comprehensive high-throughput testing for reproductive indications from minute quantities of DNA. Natera operates a CLIA-certified laboratory in San Carlos (CA, USA) providing a host of preconception and prenatal genetic testing services.

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