We read with interest the document, “Prenatal aneuploidy screening using cell free DNA.”

Whereas we support the aim of appropriate counseling on prenatal aneuploidy testing, we were surprised by the overall critical approach to the description of cell-free (cf) DNA technology. We applaud a critical comparison of cfDNA vs other available tests. However, the publication is presented to highlight limitations of cfDNA testing while downplaying its scientifically proven benefits.

While discussing the accuracy of cfDNA aneuploidy screening, the statement neglects to mention the superior performance of this test. It describes a positive predictive value of cfDNA testing ranging from 45% to 96% and suggests this to be low, whereas with current screening, the positive predictive value is 5%.

The document also lists the limitations of cfDNA testing in detail but ignores its clinical value, which has already been robustly shown in published literature. With cfDNA testing, unnecessary invasive tests can be vastly reduced. This should be a key message of this document. Why describe an old committee opinion, from 2012, stating that there was insufficient evidence to support the use of cfDNA testing in the general pregnant population? Many studies since have demonstrated the high accuracy in the average-risk population.

The document contains a lengthy discussion on perceived advantages of false-positive results derived from standard serum-based screening. Many women undergo invasive testing in reflex to these positive test results, which then might reveal some rare other anomalies, for which the screening was not designed and for which patients are typically not counseled. This discussion may be more appropriate if the options were cfDNA vs invasive testing.

The document further incorrectly suggests that most women undergo screening using the integrated approach. The most utilized test globally is the first-trimester combined test. The 11-14 weeks’ gestation limit of the nuchal translucency measurement makes standard testing unavailable for women presenting late for pregnancy care, in contrast to cfDNA testing, which is possible from 10 weeks until the end of pregnancy, a fact worth highlighting.

Lastly, the document unfortunately appeared days prior to the publication of a large prospective study showing superior performance of cfDNA testing compared with the standard first-trimester combined test in a general population of more than 15,000 pregnant women. We would welcome an urgent update of this document, including the latest evidence and a more balanced view on the currently available testing options.