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Elodie Scalici, Samir Hamamah, Reply: Cell-free nucleic acids as non-invasive biomarkers of gynecological disorders, fetal aneuploidy and constitutional maternal chromosomal mosaicism, Human Reproduction Update, Volume 21, Issue 5, September/October 2015, Page 692, https://doi.org/10.1093/humupd/dmv014
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Sir,
We thank Drs Chu and Peters for their interest in our review on the use of circulating nucleic acids (microRNAs and cell-free DNA) as non-invasive biomarkers of gynecological and pregnancy-related disorders.
We agree with Drs Chu and Peters that non-invasive prenatal testing (NIPT) is not perfectly reliable. Indeed, a positive cell-free DNA testing result does not always imply the presence of fetal aneuploidy. As it was specified by Drs Chu and Peters in their Letters to the Editor, Wang et al., reported that NIPT can have very high false-positive rates, for instance up to 7% for trisomy 21 detection (Wang et al., 2014). This finding illustrates the necessity to be careful in the case of positive results and to confirm them systematically before taking any decision concerning the pregnancy management. Moreover, it is also important to understand the possible causes of discordant results that decrease the positive predictive value of this test, in order to improve its clinical development and applications.
