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Clin Lab Med. 2016 Jun;36(2):199-211. doi: 10.1016/j.cll.2016.01.015. Epub 2016 Mar 18.

Cell-free DNA: Comparison of Technologies.

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Department of Obstetrics & Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, 1695 Eastchester Road, Bronx, New York 10461, USA.
Department of Obstetrics and Gynecology, Mt. Sinai School of Medicine, New York, NY, USA; Comprehensive Genetics and Fetal Medicine Foundation of America, 131 East 65th Street, New York, NY 10065, USA. Electronic address:


Cell-free fetal DNA screening for Down syndrome has gained rapid acceptance over the past few years with increasing market penetration. Three main laboratory methodologies are currently used: a massive parallel shotgun sequencing (MPSS), a targeted massive parallel sequencing (t-MPS) and a single nucleotide polymorphism (SNP) based approach. Although each of these technologies has its own advantages and disadvantages, the performance of all was shown to be comparable and superior to that of traditional first-trimester screening for the detection of trisomy 21 in a routine prenatal population. Differences in performance were predominantly shown for chromosomal anomalies other than trisomy 21. Understanding the limitations and benefits of each technology is essential for proper counseling to patients. These technologies, as well as few investigational technologies described in this review, carry a great potential beyond screening for the common aneuploidies.


Cell-free fetal DNA; DNA methylation; Multiple parallel shotgun sequencing; Next-generation sequencing; Noninvasive prenatal screening; Selected probes; Selective sequencing; Single nucleotide polymorphisms

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