Cell-free fetal DNA testing: who is driving implementation?

• Published in: Genetics in medicine Vol. 15; no. 6; pp. 433 - 434
• Main Authors: Mozersky, Jessica, Mennuti, Michael T.
• Format: Journal Article
• Language: English
• Published: New York Elsevier Inc 01-06-2013; Nature Publishing Group US; Elsevier Limited
• Subjects: 631/208/2489/1381; 631/208/2489/1512; Biomedical and Life Sciences; Biomedicine; Cell-Free System; commentary; DNA; Genetic Testing; Human Genetics; Humans; Laboratory Medicine; Prenatal Diagnosis
• ISSN: 1098-3600; 1530-0366
• DOI: 10.1038/gim.2012.156

The introduction of noninvasive cell-free fetal DNA (cffDNA) testing to detect fetal Down syndrome, and several other aneuploidy syndromes, signals a major shift in prenatal screening and diagnostic practice. Its arrival comes 15 years after Lo and colleagues reported the presence of circulating fetal DNA in maternal plasma. It has received much attention, both expectant and cautionary. The cffDNA testing enables prospective parents to obtain information about common survivable fetal aneuploidies with a high level of accuracy and without the risk of a diagnostic procedure. In comparison with other methods of aneuploidy screening, cffDNA testing offers several advantages. It usually involves testing of a single blood sample that may be obtained as early as 10 weeks of gestation and does not require ultrasound data. The cffDNA testing has higher sensitivity and a lower false-positive rate as compared with other screening methods and is therefore likely to result in less anxiety and fewer invasive tests. Eventual adoption of cffDNA testing as the primary method for aneuploidy screening could greatly streamline the process and result in important benefits to women.