With the detection of free fetal DNA, a completely new method of screening for a chromosomal disorder in the unborn child has recently been available. As in the first-trimester screening or the screening methods in the second trimester, no invasive procedure (no pruning or chorion villus biopsy) is required. Only a positive (ie conspicuous) result has to be clarified by a fruit water investigation or chorion biopsy biopsy. The false positive rate of the new method is, however, very low, so that a high risk finding for a chromosomal disorder is usually confirmed.
How does the investigation work?
In maternal blood, the hereditary information of the child is already present early in pregnancy, in addition to hereditary information (the mother).
In the Ariosa Harmony test, specific areas of the cell-free fetal DNA, which are typical for the particular chromosome, are amplified and then statistically evaluated.
What does the Ariosa Harmony test mean?
The Harmony test has been scientifically researched so far. In a large number of clinical trials, the high detection rate and the very low false positive rate of less than 0.1% were detected.

With the X, Y analysis, the sex of the unborn child can be predicted with an accuracy of> 99%. The risk of diseases of the sex chromosomes can also be assessed, whereby the rate of detection varies according to the type of disturbance observed.
The Harmony ™ Prenatal Test is an early and reliable test for detecting a trisomy 21 (Down syndrome) and other chromosome disorders.
The test can also determine the fetal sex and disorders of the sex chromosomes (X, Y). However, this may only be communicated to you under Austrian law after the 12th week of pregnancy.
They also have the right not to know the gender.
How does the Harmony Prenatal test differ from other prenatal tests?
In other non-invasive screening tests, such as blood serum tests and ultrasound, the rate of false positive results is up to 5%. At the same time, 5 - 15% of a trisomy 21 of the unborn child is not detected during the first trimester screening, depending on the age of the mother. Thus, the screening tests so far may falsely result in a positive (conspicuous) result for a fetal trisomy, although this is in fact negative (inconspicuous) (false positive result). A false positive result in the screening test means an unnecessary invasive examination of the fruit water or chorion villus biopsy for you and your child.
The screening tests can also show that there is no fetal trisomy, although this actually exists (false negative result).
The rates for false positive and false negative results are significantly lower in the Harmony test than in the previous non-invasive tests that are not based on the detection of free fetal DNA in maternal blood.

Restrictions of the Harmony test
Despite considerable improvements compared to the previous non-invasive tests, the detection rate of the Harmony test is not 100%, which is why the test is a screening test rather than a diagnostic test. A positive result should therefore always be confirmed with a second, diagnostic, invasive method (chorionic villus biopsy or amniocentesis) with subsequent chromosome analysis.
False-negative results may also occur. This is the case, in particular, for the trisomy 13, of which, according to the current state, only about 8 out of 10 cases are detected with the Harmony test. However, the trisomy 13 is relatively easily detected in the ultrasound examination within the framework of the first trimester screening. This is why the Harmony test can not replace a thorough ultrasound examination.
A limited detection rate is also expected for twin pregnancies. Exact scientific data are currently not available for twin pregnancies (as of 8/2013).
As mentioned above, the Harmony test can not replace a detailed ultrasound examination in which structural changes, such as organs such as the heart, can be detected in the unborn child. The Harmony test also does not recognize other hereditary diseases, such as mucoviscidosis or the like.
The so far available cffDNA tests are also unable to recognize so-called chromosome mosaics, partial trisomies or translocations.
Who can request the Harmony test?
The Harmony Prenatal test can be performed in women who are at least 11 weeks pregnant (week 10 + 0).
The Harmony test can also be performed on all pregnancies that have been caused by in vitro fertilization (IVF), irrespective of whether egg donation is present or not.
The Harmony test also works for twins. As noted above, however, the rate of recognition for twin pregnancies is probably not as high as for singles. However, a statement about gender-disordered disorders (X, Y) such as Turner or Klinefelter syndrome is currently not possible with twins.
How can the Harmony test be requested?
Please discuss with me before you decide whether the Harmony Prenatal test is suitable for you.
You can request the test in my ordination. Prerequisite for a requirement is a detailed consultation.
I will take your blood and send it to the Fetomed laboratory, together with the completed and signed request form. The Fetomed laboratory sends your blood to Ariosa, a certified laboratory in the USA.
What is the cost of the test and how long does it take?
The test costs 600 euros and includes the investigation of the risk of trisomy 21, trisomy 18 and trisomy 13. This price includes all laboratory and shipping costs, as well as the consultation costs.
The result is usually about 10 days before. In a few cases, the proportion of childlike DNA (cffDNA) in the blood can be relatively low and therefore no result can be obtained. In these cases, the test is automatically repeated by Ariosa. If no clear results can be obtained during the test repeat, the Ariosa test will not be invoiced. If necessary, The injection of a new blood sample is useful at a somewhat later stage because the content of fetal (childish) DNA in maternal blood increases with increasing gestation period.
How is payment made?
Payment is only possible in advance.
Further information can also be found on the homepage of the company Ariosa