Clinical Validity and Use

Study Subjects Reference
Cell-free DNA analysis for Non-invasive Examination of Trisomy (NEXT) (Read study) 15 841 N Engl J Med. 2015 Apr 1. [Epub ahead of print] DOI: 10.1056/NEJMoa1407349
Non-Invasive Chromosomal Evaluation (NICE) Study (Read Study) 3 228 Norton et al. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8.
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population (Read Study) 2 049 Nicolaides et al. Am J Obstet Gynecol. 2012 Nov;207(5):374.e1-6.
Trisomy 13 (Read Study) 1 949 Ashoor et al. Ultrasound Obstet Gynecol. 2013 Jan;41(1):21-5.

First-trimester risk assessment based on ultrasound and cell-free DNA vs combined screening (Read Study)

 1 376 Kagan KO et. al. Ultrasound Obstet Gynecol. 2017 Sep;51: 437–444.
Kypros Nicolaides clinical implementation (Read Study) 1 005 Gil et al. Ultrasound Obstet Gynecol. 2013 Jul;42(1):34-40.
Microarray-based cell-free DNA analysis (Read Study) 878 Juneau et al. Fetal Diagn Ther. 2014;36(4):282-6
Clinical performance of NIPT using microarrays or next generation sequencing (NGS) (Read Study) 799 Stokowski et al. Prenat Diagn. 2015 Oct; DOI: 10.1002/pd.4686
EU-NITE–European study 520 Verweij et al. Prenat Diagn. 2013 Oct;33(10):996-1001.
Sex chromosome aneuploidies (Read Study) 432 Hooks et al. Prenat Diagn. 2014 May;34(5):496-9.
High-risk population, 1st trimester (Read Study) 400 Ashoor et al. Am J Obstet Gynecol. 2012 Apr;206(4):322.e1-5.
FORTE (Read Study) 338 Sparks et al. Am J Obstet Gynecol. 2012 Apr;206(4):319.e1-9.
DANSR (Read Study) 298 Sparks et al. Prenat Diagn. 2012 Jan;32(1):3-9.
Ob/Gyn real world experience (Read Study) 289 Fairbrother et al. Prenat Diagn. 2013 Jun;33(6):580-3.
Trisomy Risk Assessment in Twin Pregnancies (Read Study) 275 Mar Gil et al. Fetal Diagn Ther. 2014;35:204-11.
Sex chromosome aneuploidies (Read Study) 177 Nicolaides et al. Fetal Diagn Ther. 2014;35(1):1-6.

Fetal Fraction

Study Subjects Reference
Maternal weight effects–commercial data (Read Study) 22,000 Wang et al. Prenat Diagn. 2013 Jul;33(7):662-6.
Consistent in high and low-risk women (Read Study) 3,007 Brar et al. J Matern Fetal Neonatal Med. 2013 Jan;26(2):143-5.
Maternal weight and fetal factors, study 2 (Read Study) 1,949 Ashoor et al. Ultraound Obstet Gynecol. 2013 Jan;41(1):26-32.
Maternal weight and fetal factors, study 1 400 Ashoor et al. Fetal Diagn Ther. 2012;31(4):237-43.
Fetal fraction in twins (Read Study) 70 Struble et al., Fetal Diagn Ther. 2014;35:199-203.