Abstract

We thank Drs Reiss and Cherry for their interest in our article1Nicolaides K.H. Syngelaki A. Ashoor G. Birdir C. Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.Am J Obstet Gynecol. 2012; 207: 374.e1-374.e6Abstract Full Text Full Text PDF PubMed Scopus (308) Google Scholar and the important points they have raised in their letter. Cell free DNA testing has the highest detection rate and lowest false-positive rate of all currently available screening tests for trisomy 21. However, as we highlight in our article, cell free DNA testing is not a diagnostic test and therefore all screen positive results require further investigation with invasive testing. We thank Drs Reiss and Cherry for their interest in our article1Nicolaides K.H. Syngelaki A. Ashoor G. Birdir C. Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.Am J Obstet Gynecol. 2012; 207: 374.e1-374.e6Abstract Full Text Full Text PDF PubMed Scopus (308) Google Scholar and the important points they have raised in their letter. Cell free DNA testing has the highest detection rate and lowest false-positive rate of all currently available screening tests for trisomy 21. However, as we highlight in our article, cell free DNA testing is not a diagnostic test and therefore all screen positive results require further investigation with invasive testing. Still a screening test: more attention needed to noninvasive prenatal test false-positive ratesAmerican Journal of Obstetrics & GynecologyVol. 209Issue 2PreviewThe study of Nicolaides et al,1 “Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population,” demonstrates that techniques analyzing cell free fetal DNA in the maternal circulation can perform well to detect aneuploidy in a general obstetric population. However, we must consider the impact of false-positive results before promoting this technique as a primary screening tool. The proportion of false- to true-positive results will be much higher among pregnancies in low-risk women. Full-Text PDF

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