DNA TestDown syndrome is a chromosomal disorder caused by a gene problem that occurs before birth. Prenatal screenings are recommended for all pregnant women in U.S. to estimate the chance of the fetus having the condition. According to a study published in the New England Journal of Medicine, Roche’s new cell-free DNA analysis test for trisomy 21 (Down syndrome) works better than traditional screening tests in younger, low-risk pregnant women – with some exceptions.

The researchers, Ariosa Diagnostics and the Perinatal Quality Foundation tested nearly 16,000 pregnant women of average age of 30. The mean gestational age at testing was 12.5 weeks. Roche’s Harmony™ Prenatal Test was compared to standard prenatal screening for Down syndrome which relies on biomarkers in the blood and a fetal ultrasound, in this group of women. It was found that

  • The Roche test identified all 38 cases of Down syndrome compared with 30 detected by standard screening
  • The false positive rate for the Roche test was 0.06 percent of the study population compared to 5.4 percent for standard screening

However, some exceptions were noted where the fetal DNA test could not provide reliable results, prompting the researchers to suggest that women who test positive to still confirm the results using a more invasive diagnostic test.

Roche Diagnostics is a leading provider of in-vitro diagnostics and frontrunner in research-focused healthcare, tissue-based cancer diagnostics and diabetes management solutions. The company is known for its quality laboratory equipment including chemistry analyzers, electrolyte analyzers and reflotrons.