title: Cell-free DNA: Comparison of Technologies.
abstract: 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.
authors.affiliation: Department of Obstetrics & Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, 1695 Eastchester Road, Bronx, New York 10461, USA.
authors.forename: Pe'er
authors.initials: P
authors.lastname: Dar
authors.affiliation: Department of Obstetrics & Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, 1695 Eastchester Road, Bronx, New York 10461, USA.
authors.forename: Hagit
authors.initials: H
authors.lastname: Shani
authors.affiliation: 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: evans@compregen.com.
authors.forename: Mark I
authors.initials: MI
authors.lastname: Evans
mesh_terms: D000782:Aneuploidy; D004247:DNA / Q000097:blood; D019175:DNA Methylation; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D011296:Prenatal Diagnosis / Q000379:methods*; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D004247:DNA
keywords: Cell-free fetal DNA; DNA methylation; Multiple parallel shotgun sequencing; Next-generation sequencing; Noninvasive prenatal screening; Selected probes; Selective sequencing; Single nucleotide polymorphisms