Resources

Harmony Performance in the General Population Published in the New England Journal of Medicine

Dr. Ron Wapner presents the NEXT study data published in the New England Journal of Medicine. Study results: Harmony outperforms first trimester combined screening in both detection and false-positive rate in a head to head comparison blinded study (n=15,841)

Published Studies

Clinical Validity and Use

Study	Subjects	Reference
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	3,228	Norton et al. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8.
General screening population, 1st trimester	2,049	Nicolaides et al. Am J Obstet Gynecol. 2012 Nov;207(5):374.e1-6.
Trisomy 13	1,949	Ashoor et al. Ultrasound Obstet Gynecol. 2013 Jan;41(1):21-5.
Kypros Nicolaides clinical implementation	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	400	Ashoor et al. Am J Obstet Gynecol. 2012 Apr;206(4):322.e1-5.
FORTE	338	Sparks et al. Am J Obstet Gynecol. 2012 Apr;206(4):319.e1-9.
DANSR	298	Sparks et al. Prenat Diagn. 2012 Jan;32(1):3-9.
Ob/Gyn real world experience	289	Fairbrother et al. Prenat Diagn. 2013 Jun;33(6):580-3.
Twins study	275	Mar Gil et al. Fetal Diagn Ther. 2014;35:204-11.
Sex chromosome aneuploidies	177	Nicolaides et al. Fetal Diagn Ther. 2014;35(1):1-6.
Sex chromosome aneuploidies	432	Hooks et al. Prenat Diagn. 2014 May;34(5):496-9.
Microarray-based cell-free DNA analysis	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		Stokowski et al. Prenat Diagn. 2015 Oct; DOI: 10.1002/pd.4686

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Fetal Fraction

Study	Subjects	Reference
Maternal weight effects–commercial data	22,000	Wang et al. Prenat Diagn. 2013 Jul;33(7):662-6.
Consistent in high and low-risk women	3,007	Brar et al. J Matern Fetal Neonatal Med. 2013 Jan;26(2):143-5.
Maternal weight and fetal factors, study 2	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	70	Struble et al., Fetal Diagn Ther. 2014;35:199-203.

Brochures

Harmony Prenatal Test for Expecting Parents
An overview of the Harmony Prenatal Test: what it is, how it differs from other tests, what to expect when taking this simple blood test, and questions to ask your healthcare provider.

Harmony Prental Test Brochure for Expecing Parents

Links

Support and Advocacy Groups

Find links to organizations that offer information and resources for both expecting parents and healthcare providers on genetic conditions and trisomy testing.

Information about trisomies and other genetic conditions

Many organizations offer education on genetic conditions such as Down syndrome and support to affected families. See below for a brief description of the genetic conditions that Harmony tests for and links to support and advocacy group websites.

Down syndrome (trisomy 21)

Down syndrome is the most common chromosome condition, occurring in about 1 in 700 births*. Down syndrome affects physical and intellectual development and may shorten lifespan. Down syndrome is a genetic condition that happens when an extra chromosome (chromosome 21) originates in the formation of either the sperm or the egg called “trisomy”.* Even though Down syndrome is “genetic”, it is not typically an inherited condition.

* https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html

NIH Genetics Home Reference
https://ghr.nlm.nih.gov/condition/down-syndrome

Lettercase
http://lettercase.org/

National Association for Down Syndrome
https://nads.org/

National Down Syndrome Congress
http://www.ndsccenter.org/

National Down Syndrome Society
http://www.ndss.org/

Trisomy 18

Trisomy 18 is associated with a high rate of miscarriage. Infants born with trisomy 18 syndrome may have various medical conditions and a shortened lifespan. It is estimated that trisomy 18 syndrome is present in approximately one out of every 5,000 newborns.¹ Trisomy 18 is due to an extra copy of chromosome 18. Even though trisomy 18 is “genetic”, it is not typically an inherited condition.

NIH: Genetics Home Reference
https://ghr.nlm.nih.gov/condition/trisomy-18

Chromosome 18 Registry and Research Society
www.chromosome18.org

Trisomy 18 Foundation
www.trisomy18.org

Trisomy 13

Trisomy 13 is associated with a high rate of miscarriage. Infants born with trisomy 13 usually have severe congenital heart defects and other medical conditions. Survival beyond the first year is rare. It is estimated that trisomy 13 is present in approximately 1 out of every 16,000 newborns.** Trisomy 13 is due to an extra chromosome 13. Even though trisomy 13 is “genetic”, it is not typically an inherited condition.

NIH: Genetics Home Reference
**https://ghr.nlm.nih.gov/condition/trisomy-13

SOFT (Support for Trisomy 13/18)
www.trisomy.org

Sex Chromosome Aneuploidies

Turner syndrome, in which one X chromosome is present instead of two, affects 1 in 2,000 girls. Klinefelter syndrome, in which an extra X chromosome is present, affects 1 in 500-1000 boys. Other X and Y chromosome-related conditions affect as many as 1 in 650 newborns. The features of these conditions are variable.

The Turner Syndrome Society of the United States
turnersyndrome.org

AXYS
genetic.org

The Focus Foundation
thefocusfoundation.org

These links are provided solely as a resource to the reader. Roche is not affiliated with, nor endorses any of the listed organizations and hereby disclaims any responsibility or liability for any of the content or advice provided by any such organizations.

¹"American Pregnancy Association." American Pregnancy Association. American Pregnancy Association, n.d. Web. 12 Oct. 2012. www.americanpregnancy.org/main/statistics.html

The Harmony Prenatal Test is a non-invasive prenatal test (NIPT) based on cell-free DNA analysis and is considered a prenatal screening test, not a diagnostic test. Harmony does not screen for potential chromosomal or genetic conditions other than those expressly identified in this document. Before making any treatment decisions, all women should discuss their results with their healthcare provider, who can recommend confirmatory, diagnostic testing where appropriate. The Harmony Prenatal Test was developed, and its performance characteristics determined by Ariosa Diagnostics, Inc., a CLIA-certified and CAP-accredited clinical laboratory in San Jose, CA USA. This testing service has not been cleared or approved by the US FDA. HARMONY and HARMONY and Design are trademarks of Ariosa Diagnostics, Inc. in the US. HARMONY is a trademark of Roche in other countries. All other trademarks are the property of their respective owners.

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