Safe Method.

Secure Result.

The Harmony® Test


Harmony® Prenatal Test

The Harmony® Test is a prenatal screening test for chromosomal disorders. It is characterized by excellent clinical validation and high reliability. This high reliability of the Harmony® Test has been confirmed in numerous clinical studies which have been published in peer-reviewed scientific journals.

In all studies combined, the Harmony® Test correctly detected 99.5 % of all fetal trisomy 21 cases in singleton pregnancies1.

In one of the largest clinical study performed to date for this kind of prenatal screening test, involving 18,955 normal risk pregnancies, the Harmony® Test had a false-positive rate of only 0.06 % (NEXT-Study)2. These data, obtained with a previous version of the Harmony® Test (next generation sequencing), are fully transferable to the new microarray-based Harmony® Test, which has an even higher precision2. A recent study of the Harmony® Test based on the microarray technology, shows a detection rate of >99 % for trisomy 21 and a detection of all trisomy 18 and 13 cases. There were no false-positive results1.


Advantages of the Harmony® Test

Excellent detection rate

>99 % detection rate for trisomy 21 in published studies.

Barely any other NIPT method has been investigated in trials as thoroughly as the Harmony® Test. In all studies combined, the Harmony® Test correctly detected 99.5 % of fetal trisomy 21 in singleton pregnancies4. A recent study of the Harmony® Test based on the microarray technology, shows a detection rate of >99 % for trisomy 21 and a full detection of all trisomy 18 and 13 cases. There were no false-positive results 4.


Low false-positive rate

Only 0.06% for trisomy 21.

In one of the largest NIPT studies to date (NEXT Study) exact data on the false-positive rate of the Harmony® Test could be provided because of the high number of cases (18,955 normal risk pregnancies). The false-positive rate of the Harmony® Test was only 0.06% for trisomy 216. All trisomy 21 cases were detected.


High success rate

Only 1.4 % of the samples could not be analysed on the first attempt7 and only 0.6% could not be analysed after repetition of the test.

The Harmony® Test is characterised by a very high success rate. According to our own data, 98.6 % of tests can be performed successfully on the first attempt. This has been confirmed by an independent investigation by the study group of Prof. Nicolaides (Professor of Fetal Medicine at Kings College and University College, London)8.

The probability that a Harmony® Test can be performed successfully or not depends largely upon how much cell-free fetal DNA (cffDNA) there is in the mother’s blood. The proportion of cffDNA depends on both the week of pregnancy (the earlier this is, the less cffDNA is found) and the mother’s weight (the higher this is, the less cffDNA will be found).

Cell-free fetal DNA (cffDNA) in the mother's blood

Cell-free fetal DNA (cffDNA) in the mother’s blood


Fast reporting of results

Average turn-around time of the results is 3 business days – at no extra cost.

The unique design of the Harmony® Test permits an average processing period of only three working days from receipt of the samples until the delivery of the results. This has been made possible by the use of microarray technology, which replaces time-consuming sequencing. The time needed for this step can thus be cut from 56 to only 7.5 hours. Microarray technology is also superior to sequencing in terms of accuracy in this application 9


Low price

The Harmony® Test analyses only chromosomes 22, 21, 18, 13, and the X and Y chromosomes, which permits a significant increase in the method’s efficiency 10. Instead of randomly sequencing parts of the entire genome, the Harmony® Test focuses on the chromosomes of interest; this allows a much more detailed analysis of these chromosomes with the Harmony® Test than with conventional NIPT methods, which are based on sequencing the complete cell-free DNA (“Massively Parallel Shotgun Sequencing”, MPSS).

The consequences are a greater accuracy and much less laboratory time, which is also reflected in the low costs of the test. Thereby – independent of the desired test option – all samples are analyzed with the method published in numerous studies.


Highly-qualified team of physicians for interpretation of results and counseling

The team at Cenata GmbH includes highly-qualified physicians and scientists including specialists in human genetics, laboratory medicine, and obstetrics and gynaecology.

Our team is looking forward to answer your questions on prenatal diagnoses, NIPT and the interpretation of the Harmony® Test.


The Harmony® Test compared to other prenatal test methods

The Harmony® Test permits the detection of numerical chromosomal disorders in the unborn child by taking a sample of the mother’s blood, eliminating the risk miscarriage inherent in invasive methods. The informative value of the Harmony® Test, particularly for trisomy 21, is thus many times higher than traditional first trimester screening.

The Harmony® Test does have limitations, as it cannot detect mosaics or structural chromosomal changes. It is also not possible to identify any physical or other disorders of the unborn child. A number of these illnesses can be detected with an accurate ultrasound scan, often from the 12th/13th week of pregnancy. A genetic test such as the Harmony® Test complements, but never replaces, a thorough ultrasound scan.

The following table compares the available prenatal test methods:

Patient type of intervention


Independent of the GC distribution in a sample

Heparin treatment affects the GC content of a blood sample. NIPT tests based on “random massively parallel sequencing” (rMPS) therefore have more failed tests and false results 11, 12, 13.
The Harmony® Test uses the DANSR (Digital Analysis of Selected Regions) method. Thanks to this unique analysis of specific regions of DNA, the Harmony® Test is independent of the GC distribution in a sample 14.



Test variants

  • Harmony® Test
    for trisomies 21,18, and 13

  • Harmony® Test
    for trisomies 21, 18, 13, and X/Y (XO, XXX, XXY, XYY, XXYY)

  • DiGeorge syndrome (Microdeletion 22q11.2) optional

  • Fetal sex determination optional

In addition to the costs for the Harmony® Test itself, your physician will provide services associated with the Harmony® Test (counseling, blood draw, examination). Please enquire at your physician beforehand about the costs of these services. Without any extra costs it takes on average 3 business days to process the Harmony® Test after the sample is received by the laboratory.

(Business days = Mo-Fr, public holidays excluded)


The Harmony® Test is currently still a privately paid service, thus we advise checking coverage policies with your health insurance plan prior to having the Harmony® Test performed. In some cases it is possible to have costs reimbursed by health insurance plans upon application; we provide forms and documentation in our downloads section to give you the best possible assistance.


  1. Stokowski R, Wang E, White K, Batey A, Jacobsson B, Brar H, Balanarasimha M, Hollemon D, Sparks A, Nicolaides K, Musci TJ.: Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies. Prenat Diagn. 2015 Sep 1
  2. Juneau K, Bogard PE, Huang S, Mohseni M, Wang ET, Ryvkin P, Kingsley C, Struble CA, Oliphant A, Zahn JM: Microarray-based cell-free DNA analysis improves noninvasive prenatal testing. Fetal Diagn Ther. 2014;36(4):282-6. doi: 10.1159/000367626 . Epub 2014 Sep 12.
  3. Stokowski R, Wang E, White K, Batey A, Jacobsson B, Brar H, Balanarasimha M, Hollemon D, Sparks A, Nicolaides K, Musci TJ.: Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies. Prenat Diagn. 2015 Sep 1
  4. Stokowski R, Wang E, White K, Batey A, Jacobsson B, Brar H, Balanarasimha M, Hollemon D, Sparks A, Nicolaides K, Musci TJ.: Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies. Prenat Diagn. 2015 Sep 1
  5. Stokowski R, Wang E, White K, Batey A, Jacobsson B, Brar H, Balanarasimha M, Hollemon D, Sparks A, Nicolaides K, Musci TJ.: Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies. Prenat Diagn. 2015 Sep 1
  6. Norton ME ,Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, Tomlinson MW, Pereira L, Spitz JL, Hollemon D, Cuckle H, Musci TJ and Wapner RJ: Cell-free DNA Analysis for Noninvasive Examination of Trisomy. N Engl J Med. 2015, Apr 1, DOI: 10.1056/NEJMoa1407349
  7. Kagan, K. O., Sroka, F., Sonek, J., Abele, H., Lüthgens, K., Schmid, M., Wagner, P., Brucker, S., Wallwiener, D. and Hoopmann, M. (), First trimester screening based on ultrasound and cfDNA vs. first-trimester combined screening – a randomized controlled study. Ultrasound Obstet Gynecol. Accepted Author Manuscript. doi:10.1002/uog.18905
  8. Bevilacqua E, Gil MM, Nicolaides KH, Ordoñez E, Cirigliano V, Dierickx H, Willems PJ, Jani JC. Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies. Ultrasound Obstet Gynecol. 2014 Oct 9. doi: 10.1002/uog.14690.
  9. Juneau K, Bogard PE, Huang S, Mohseni M, Wang ET, Ryvkin P, Kingsley C, Struble CA, Oliphant A, Zahn JM: Microarray-based cell-free DNA analysis improves noninvasive prenatal testing. Fetal Diagn Ther. 2014;36(4):282-6. doi: 10.1159/000367626. Epub 2014 Sep 12.
  10. Eiben B, Glaubitz R, Kagan KO: Nichtinvasive Pränataldiagnostik ETS und NGS-basierte Tests. Med Gen 2014, Epub ahead of print. DOI 10.1007/s11825-014-0021-3
  11. Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, McBride C, Zahn J, Lee K, Shen N, Doshi J, Sun M, Garrison J, Sandler J, Hollemon D, Pattee P, Tomita-Mitchell A, Mitchell M, Stuelpnagel J, Song K, Oliphant A. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn. 2012 Jan;32(1):3-9. doi: 10.1002/pd.2922.
  12. Chiu RW, Sun H, Akolekar R, Clouser C, Lee C, McKernan K, Zhou D, Nicolaides KH, Lo YM. Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21. Clin Chem. 2010 Mar;56(3):459-63. doi: 10.1373/clinchem.2009.136507.
  13. Fan HC, Quake SR. Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One. 2010 May 3;5(5):e10439. doi:10.1371/journal.pone.0010439.
  14. Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Apr;206(4):319.e1-9. doi: 10.1016/j.ajog.2012.01.030.
© 2016 Roche Diagnostics and Cenata GmbH. All rights reserved. Cenata® and the Cenata-Logo are registered trademarks of Cenata GmbH. HARMONY® is a registered trademark of Roche. All other trademarks are the property of their respective owners.