Ariosa Diagnostics Comments on ACOG Guidelines for Non-Invasive Prenatal Testing

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On November 21, 2012, the American Congress of Obstetricians and Gynecologists (ACOG) issued
guidance on non-invasive prenatal testing (NIPT), recommending that any woman at high risk of carrying
a fetus with a trisomy be offered NIPT as a prenatal testing option.1 We share ACOG’s view that NIPT is a
safe and effective prenatal testing option, and further believe that any woman, regardless of risk
categorization, can benefit from early and accurate NIPT information.

Ariosa’s Harmony™ Prenatal Test, utilizing a directed approach to cell-free DNA (cfDNA) analysis, has
been studied in more than 6,000 women across multiple sites, with a detection rate for trisomy 21 of
greater than 99 percent and false positive rates less than 0.1 percent.2 Importantly, the Harmony test
has been studied with equally effective results in more than 2,000 women considered to be of average
risk for carrying a fetus with a trisomy.3 Other studies of the Harmony test have shown no significant
differences in the fraction of fetal cfDNA in maternal blood based on maternal age, prenatal screening
results or nuchal translucency measurement. The amount of fetal cfDNA in maternal blood is the
principal factor in successfully detecting trisomies with NIPT.

Today, the options for safely and effectively determining whether a woman is at risk of carrying a fetus
with a genetic condition are greater than ever before. Ariosa recognizes the important role healthcare
providers play in informing patient choice on the course of their prenatal care, including testing options
and follow-up diagnosis and counseling. Ariosa believes that a non-invasive and highly accurate test for
trisomies should be made available to any pregnant woman, and we urge our colleagues at ACOG to
thoroughly evaluate the growing body of research on NIPT for the average-risk population and its
expanding use in clinical practice today.

 



Noninvasive prenatal testing for fetal aneuploidy. Committee Opinion No. 545. American College of Obstetricians and Gynecologists. Obstet Gynecol 2012; 120:1532-4.

Norton, M., Brar, H., Weiss, J., Karimi, A., et al. Non-Invasive Chromosomal Evaluation (NICE) Study: Results of a Multicenter, Prospective, Cohort Study for Detection of Fetal Trisomy 21 and Trisomy 18, Am J Obstet Gynecol. (2012), doi: 10.1016/j.ajog.2012.05.021.

Nicolaides KH, Syngelaki A, Ashoor G, et al. Noninvasiveprenatal testing for fetal trisomies in a routinely screened first-trimester population, Am J Obstet Gynecol. (2012); 207:374.e1-6.