The authors wish to thank Prof. Giuseppe Novelli for the provision of plasmids containing the cDNA of LOX-1 and LOXIN. The authors would also like to thank Dr. Chris Rogers for statistical analysis and Dr. Ray Bush, Paul Savage, and Yvonne Johnson for technical assistance. “
“Since becoming clinically available in late 2011, cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) for fetal aneuploidy has seen an unprecedented rapid adoption into clinical care.1 This followed multiple publications on methodologies, validation, and test performance,2, 3, 4, 5, 6, 7, Selleckchem Dorsomorphin 8, 9, 10, 11, 12, 13 and 14 all demonstrating

improved sensitivities and lower false-positive Protease Inhibitor Library molecular weight (FP) rates than current screening methods. Opinion statements by national and international professional societies support the clinical use of NIPT in pregnant women, with most recommending use restricted to women at high risk for fetal aneuploidy.15, 16 and 17 Two approaches to NIPT have been developed and commercialized. In the first approach, fetal chromosome copy number is determined by comparing the number of sequence reads from the chromosome(s) of interest to those from reference chromosomes.7, 8, 11, 12, 13, 18, 19, 20, 21 and 22 The second approach entails

targeted amplification and sequencing of single-nucleotide polymorphisms (SNPs).2, 3, 4, 5, 23 and 24 This approach requires a sophisticated informatics-based method to compute aneuploidy risk through SNP distribution. Validation of the SNP-based NIPT method at 11-13 weeks’ gestation was recently reported, demonstrating high sensitivity and specificity for detection of trisomy 21, trisomy 18, trisomy 13, Turner syndrome (monosomy X), and triploidy.2 and 3 Despite hundreds of thousands of tests already having been performed worldwide, there are few large-scale TCL reports describing performance of NIPT in actual clinical settings,22 and 25 with most studies reporting on <1000 total patients.26, 27, 28 and 29

Here, laboratory and clinical experience of >31,000 women who received prenatal screening with a SNP-based NIPT is reported. This is a retrospective analysis of prospectively collected data on 31,030 cases received for commercial testing from March through September 2013. This study received a notification of exempt determination from an institutional review board (Albert Einstein College of Medicine Institutional Review Board: no. 2014-3307). Samples were classified as out of specification and excluded in cases of gestational age <9 weeks, multiple gestation, donor egg pregnancy, surrogate carrier, missing patient information, sample received >6 days after collection, insufficient blood volume (<13 mL), wrong collection tube used, or if the sample was damaged.