Published studies

Read published, peer-reviewed studies on Harmony’s clinical performance and the importance of fetal fraction. 

StudySubjectsReference
Clinical Validity and Use
Cell-free DNA analysis for Non-invasive Examination of Trisomy (NEXT) 15,841

N Engl J Med. 2015 Apr 1. [Epub ahead of print] DOI: 10.1056/NEJMoa1407349 

NICE-Cohort validation study (Read Study) 3,228

Norton et al.  Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8.

General screening population, 1st trimester (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.

Kypros Nicolaides clinical implementation (Read Study) 1,005

Gil et al. Ultrasound Obstet Gynecol. 2013 Jul;42(1):34-40.

EU-NITE–European study 520

Verweij et al. Prenat Diagn. 2013 Oct;33(10):996-1001.

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.

Twins study (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.

Sex chromosome aneuploidies (Read Study) 432

Hooks et al. Prenat Diagn. 2014 May;34(5):496-9.

Microarray-based cell-free DNA analysis (Read Study) 878

Juneau et al. Fetal Diagn Ther. 2014;36(4):282-6

Clinical performance with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies (Read Study)   Stokowski et al. Prenat Diagn. 2015 Oct; DOI: 10.1002/pd.4686
Fetal Fraction
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.