Cenata GmbH | Paul-Ehrlich-Str. 23 | D-72076 Tübingen | Tel. 07071 – 565 44 430 | Fax 07071 – 565 44 444

Cenata GmbH | Paul-Ehrlich-Str. 23 | D-72076 Tübingen | Tel. 07071 – 565 44 430 | Fax 07071 – 565 44 444

Frequently Asked Questions

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FOR EXPECTANT PARENTS

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FAQ

You can filter the FAQs here:

The Harmony® Test is a non-invasive prenatal test (NIPT). The Harmony® Test analyses fetal DNA that can be found freely in the mother’s blood. For this kind of chromosome analysis, only a blood sample has to be taken from the mother, so there is absolutely no risk for your child.

The Harmony® Test allows you to determine the risk of trisomy 21 (Down syndrome), trisomy 18 and trisomy 13. Numerical anomalies of the sex chromosomes can also be identified.

The Harmony® Test can be carried out on women who are in at least the 11th week of pregnancy (as of week 10+0). The Harmony® Test analysis is based on the detection of cell-free fetal DNA (cffDNA,) in the mother’s blood. Since the proportion of this cffDNA depends upon the week of pregnancy and must be over 4%, an earlier analysis is not possible.

No, you only have to provide a blood sample in special test tubes for the Harmony® Test. Prior to carrying out a Harmony® Test, your physician should give you an ultrasound scan to determine the gestational age, and to determine if it is a singleton or multiple pregnancy. German law also requires that you receive comprehensive counseling before any genetic test is performed.

The cost of the Harmony® Test depends upon which chromosomal disorders are analysed. Please ask your local distributor for the actual Harmony® Test price.

No. In a very small number of cases, it may not be possible to evaluate results of the Harmony® Test. One common cause of this is that the proportion of fetal DNA (cffDNA) is too low in the mother’s blood. There are other technical reasons why it may not be possible to evaluate the Harmony® Test; in all of these cases, the test will be repeated automatically by Cenata. If no clear result is obtained with the second test, we notify your physician that the findings could not be analysed. In this case you will not be charged for the test by Cenata. You may wish to submit a new blood sample at a slightly later point in time since the content of fetal DNA in the mother’s blood increases with the length of pregnancy.

The Harmony® Test is a service that you have to pay for privately, as the costs are not currently reimbursed by public health insurance plans. Private health insurance plans normally cover these costs.We recommend that you check with your health insurance plan prior to having the test performed to see if they will cover the cost. The invoice you receive from Cenata shows the cost of the services rendered according to GOÄ (statutory scale of fees for physicians). You can download forms and templates from our homepage that can be used to apply for a reimbursement of the costs by your health insurance plan. On the basis of this application, a number of public health insurance plans now reimburse the costs of the Harmony® Test.

Sex determination is possible, irrespective of the method of conception (natural, by egg donation, or by in vitro fertilisation). If you would like to know the probable sex of your child this must be indicated on the request form which you should complete together with your physician when he/she takes your blood sample.
In accordance with the Genetic Diagnostics Act, we are only allowed to inform you of the sex of your child when you reach week 14+0 of your pregnancy. If you wish to be informed of the sex and have not yet reached the 14th week of your pregnancy, we will initially only send your physician partial findings, without the sex of your child. When week 14+0 of the pregnancy is reached we will automatically send your physician a report on the sex of the fetus.

The Harmony® Test offers the opportunity of determining the sex of your unborn child. If you decide on the test option that analyses trisomies 21, 18, 13 but without an analysis of X/Y chromosomal disorders, you can request sex determination as an extra service. Please ask your local provider about the prices. In accordance with the Genetic Diagnostics Act, your physician is only allowed to inform you of the sex of your child when you reach week 14+0 of your pregnancy. If you wish to be informed of the sex and have not yet reached the 14th week of your pregnancy, we will initially only send your physician partial findings without the sex of your child. When week 14+0 of the pregnancy is reached we will automatically send your physician a report on the sex of the fetus.

Yes, the Harmony® Test is also possible with twin pregnancies. You will learn whether one of your unborn children has trisomy 21, 18 or 13. The analysis of X- and Y-chromosomal anomalies is not possible for twin pregnancies at the present time.

No. The cost for the Harmony® Test does not differ if you have a singleton or twin pregnancy. The price of the Harmony® Test depends on the test variant you choose. Please ask your local distributor for the actual Harmony® Test price.

The analysis of the fetal sex is based on the detection of sequences of the Y-chromosome, which is only available in male fetuses. If the Harmony® Test detects a sequence of a Y-chromosome it means that most probably at least one or even two of the fetuses are male. If the Harmony® Test does not detect a Y-chromosome, it means that the twins are most likely female.

Yes. You can use the Harmony® Test even if your pregnancy is the result of an in vitro fertilisation. Please let us know if you had an egg donation or not. The Harmony® Test can not determine a result in case of a secret egg donation.
If you are expecting only one child, all three Harmony® Test options are possible. If you are expecting twins, only the Harmony® Test option for trisomies 21, 18 and 13 + the fetal sex is possible at present.

The Harmony® Test is still possible in the case of egg donation; it affects neither the detection rate nor the false positive rate. The laboratory, however, must be informed of the egg donation in order to perform the appropriate bioinformatic analyses. In case of a secret egg donation the Harmony® Test can not determine a result. If you have forgotten to note an egg donation when completing the request form, this can still be taken into account before the analysis is performed.

As a result of the unique design of the Harmony® Test, your physician will be sent the laboratory findings on average after 3 working days. This is possible because of the use of very reliable and accurate microarray technology, which replaces time-consuming sequencing. The time needed for this laboratory step can thus be reduced significantly. Your physician will receive the results by fax and will then discuss them with you.

In accordance with the German Genetic Diagnosis Act, the results of the Harmony® Test will only be sent to the responsible physician of your choice. Your physician remains your main contact person before, during and after the performance of the Harmony® Test.

If the Harmony® Test returns a positive result, there is a relatively high probability that your child has one of the tested chromosomal disorders. However, since the test can also produce a false positive result, a positive (ie. abnormal) finding must always be confirmed by a second diagnostic, invasive method (chorionic villus sampling or amniocentesis). Subsequent chromosome analysis of those samples can then provide definitive diagnostic results. During genetic counseling, your physician will explain in detail the possible effects of the probable chromosomal disorder for your unborn child and provide you with information about further counseling options.

A negative Harmony® Test result with no associated pathological ultrasound findings allows you to rule out the tested chromosomal disorders in your unborn child with a high degree of probability. The exception is trisomy 13, which is detected in only approximately 85 – 90% of cases by non-invasive tests of maternal blood (NIPT), based upon the latest figures. However, this chromosomal disorder is very rare (with a frequency of 1:16000, depending on the mother’s age) and can be easily detected by an ultrasound scan, e.g. during first trimester screening. All NIPT methods have limitations when it comes to the detection of mosaics or structural chromosomal changes. A negative test result therefore does not rule out the possibility of other disorders in your unborn child. A number of these disorders can be detected with an accurate ultrasound scan, for example, often from the 12th week of pregnancy. This is why a genetic test such as the Harmony® Test can never replace a thorough ultrasound scan.

Yes, there are other NIPT providers in Germany. However, they either work with the rMPS method, which is based on a random sequencing of all free DNA fractions in the maternal blood, or by analysing single-nucleotide polymorphisms. The Harmony® Test has a much greater sequencing depth through the specific sequencing of the chromosomes in question (DANSR analysis). This means that is it less susceptible to interferences and more efficient since it concentrates on key sequences.

It is known that treatment with heparin (low molecular weight heparin [LMWH] therapy) leads to a shift of the GC distribution of free fetal DNA in the mother’s blood. In the Harmony® Test, the distribution of GC content is pre-defined in the analysis method and the informative value is therefore not affected by a heparin therapy. Other NIPT methods are based on the random sequencing of all free DNA fractions in maternal blood and are therefore less accurate during heparin therapy, resulting in increased test failures and a higher number of false positive and false negative results.
The Harmony® Test is not affected by heparin treatment, and no other interactions between medications and NIPT methods are known to date.

The Harmony® Test analysis is based on the analysis of free fetal DNA (cffDNA,) in the mother’s blood. The proportion of cffDNA must be at least 4% for the test to be performed. This proportion is normally above 4% in week 10+0 of pregnancy. The weight of the pregnant woman also affects the proportion of cffDNA. After a second blood sample at a later point in time during the pregnancy, the number of tests that cannot be analysed drops to 0.6%. This means that of 167 samples that are sent to us, only one remains that cannot be evaluated.
Further reasons why the test may fail include an undisclosed egg donation, the death of one fetus in what was previously a twin pregnancy (“vanishing twin”), placental mosaics or previously unknown maternal chromosomal disorders. There will be no costs to you if no result can be obtained.

Scientific studies show that the Harmony® Test only returns a false positive result in 0.04% of cases1. This is 5 times lower than NIPT methods that are based on the random mass parallel sequencing (rMPS) of fetal DNA fractions in the mother’s blood and approx. 80 times lower than traditional first trimester screening. The very rare false positive results are usually due to a difference between the genetic type of the cells in the placenta and the genetic type of the child. Since the cell-free fetal DNA comes from the placenta, the Harmony® Test basically reflects the genetic situation in the placenta. This means, for example, that some of the cells in the placenta display a trisomy and others do not (mosaic). In these cases the Harmony® Test may show a high risk for a trisomy even though the child has healthy chromosomes.

Another reason for a false positive result is the death of a fetus in what was previously a twin pregnancy. If the deceased fetus suffered from a chromosomal disorder this can lead to an apparently false positive result of the Harmony® Test since the placental material of the deceased fetus may remain for some period of time and cell-free DNA can be released into the maternal blood.

Because of the possibility of false positive results, a positive (abnormal) finding must always be confirmed by a second diagnostic, invasive method (chorionic villus sampling or amniotic puncture) with subsequent chromosome analysis before any further decisions can be made about the pregnancy.

The Harmony® Test has an excellent detection rate for trisomy 21 of 99.3%. The detection rate for trisomy 18 is 97.4%. However, false negative results can also occur. This is particularly the case for trisomy 13 (detection rate of trisomy 13: 93.8%)1. However, trisomy 13 is detected relatively reliably in the ultrasound examination as part of the first trimester screening.

Twin pregnancies may also limit the detection rate. A study by Prof. Nicolaides in London showed a detection rate of approx. 93% for trisomy 21 in twins3.

You should inform your physician directly of your decision. Since you have a right not to know in accordance with the German Genetic Diagnostics Act, the physician will then not inform you of the result of the Harmony® Test. The Harmony® Test can also be stopped at any time during the analysis. In this case, you will only be charged for the costs incurred up to the time at which the test is discontinued.

FAQ

You can filter the FAQs here:

The Harmony® Test is a non-invasive prenatal test (NIPT). The Harmony® Test analyses fetal DNA that can be found freely in the mother’s blood. For this kind of chromosome analysis, only a blood sample has to be taken from the mother, so there is absolutely no risk for your child.

The Harmony® Test allows you to determine the risk of trisomy 21 (Down syndrome), trisomy 18 and trisomy 13. Numerical anomalies of the sex chromosomes can also be identified.

The Harmony® Test can be carried out on women who are in at least the 11th week of pregnancy (as of week 10+0). The Harmony® Test analysis is based on the detection of cell-free fetal DNA (cffDNA,) in the mother’s blood. Since the proportion of this cffDNA depends upon the week of pregnancy and must be over 4%, an earlier analysis is not possible.

No, you only have to provide a blood sample in special test tubes for the Harmony® Test. Prior to carrying out a Harmony® Test, your physician should give you an ultrasound scan to determine the gestational age, and to determine if it is a singleton or multiple pregnancy. German law also requires that you receive comprehensive counseling before any genetic test is performed.

The cost of the Harmony® Test depends upon which chromosomal disorders are analysed. Please ask your local distributor for the actual Harmony® Test price.

No. In a very small number of cases, it may not be possible to evaluate results of the Harmony® Test. One common cause of this is that the proportion of fetal DNA (cffDNA) is too low in the mother’s blood. There are other technical reasons why it may not be possible to evaluate the Harmony® Test; in all of these cases, the test will be repeated automatically by Cenata. If no clear result is obtained with the second test, we notify your physician that the findings could not be analysed. In this case you will not be charged for the test by Cenata. You may wish to submit a new blood sample at a slightly later point in time since the content of fetal DNA in the mother’s blood increases with the length of pregnancy.

The Harmony® Test is a service that you have to pay for privately, as the costs are not currently reimbursed by public health insurance plans. Private health insurance plans normally cover these costs.We recommend that you check with your health insurance plan prior to having the test performed to see if they will cover the cost. The invoice you receive from Cenata shows the cost of the services rendered according to GOÄ (statutory scale of fees for physicians). You can download forms and templates from our homepage that can be used to apply for a reimbursement of the costs by your health insurance plan. On the basis of this application, a number of public health insurance plans now reimburse the costs of the Harmony® Test.

Sex determination is possible, irrespective of the method of conception (natural, by egg donation, or by in vitro fertilisation). If you would like to know the probable sex of your child this must be indicated on the request form which you should complete together with your physician when he/she takes your blood sample.
In accordance with the Genetic Diagnostics Act, we are only allowed to inform you of the sex of your child when you reach week 14+0 of your pregnancy. If you wish to be informed of the sex and have not yet reached the 14th week of your pregnancy, we will initially only send your physician partial findings, without the sex of your child. When week 14+0 of the pregnancy is reached we will automatically send your physician a report on the sex of the fetus.

The Harmony® Test offers the opportunity of determining the sex of your unborn child. If you decide on the test option that analyses trisomies 21, 18, 13 but without an analysis of X/Y chromosomal disorders, you can request sex determination as an extra service. Please ask your local provider about the prices. In accordance with the Genetic Diagnostics Act, your physician is only allowed to inform you of the sex of your child when you reach week 14+0 of your pregnancy. If you wish to be informed of the sex and have not yet reached the 14th week of your pregnancy, we will initially only send your physician partial findings without the sex of your child. When week 14+0 of the pregnancy is reached we will automatically send your physician a report on the sex of the fetus.

Yes, the Harmony® Test is also possible with twin pregnancies. You will learn whether one of your unborn children has trisomy 21, 18 or 13. The analysis of X- and Y-chromosomal anomalies is not possible for twin pregnancies at the present time.

No. The cost for the Harmony® Test does not differ if you have a singleton or twin pregnancy. The price of the Harmony® Test depends on the test variant you choose. Please ask your local distributor for the actual Harmony® Test price.

The analysis of the fetal sex is based on the detection of sequences of the Y-chromosome, which is only available in male fetuses. If the Harmony® Test detects a sequence of a Y-chromosome it means that most probably at least one or even two of the fetuses are male. If the Harmony® Test does not detect a Y-chromosome, it means that the twins are most likely female.

Yes. You can use the Harmony® Test even if your pregnancy is the result of an in vitro fertilisation. Please let us know if you had an egg donation or not. The Harmony® Test can not determine a result in case of a secret egg donation.
If you are expecting only one child, all three Harmony® Test options are possible. If you are expecting twins, only the Harmony® Test option for trisomies 21, 18 and 13 + the fetal sex is possible at present.

The Harmony® Test is still possible in the case of egg donation; it affects neither the detection rate nor the false positive rate. The laboratory, however, must be informed of the egg donation in order to perform the appropriate bioinformatic analyses. In case of a secret egg donation the Harmony® Test can not determine a result. If you have forgotten to note an egg donation when completing the request form, this can still be taken into account before the analysis is performed.

As a result of the unique design of the Harmony® Test, your physician will be sent the laboratory findings on average after 3 working days. This is possible because of the use of very reliable and accurate microarray technology, which replaces time-consuming sequencing. The time needed for this laboratory step can thus be reduced significantly. Your physician will receive the results by fax and will then discuss them with you.

In accordance with the German Genetic Diagnosis Act, the results of the Harmony® Test will only be sent to the responsible physician of your choice. Your physician remains your main contact person before, during and after the performance of the Harmony® Test.

If the Harmony® Test returns a positive result, there is a relatively high probability that your child has one of the tested chromosomal disorders. However, since the test can also produce a false positive result, a positive (ie. abnormal) finding must always be confirmed by a second diagnostic, invasive method (chorionic villus sampling or amniocentesis). Subsequent chromosome analysis of those samples can then provide definitive diagnostic results. During genetic counseling, your physician will explain in detail the possible effects of the probable chromosomal disorder for your unborn child and provide you with information about further counseling options.

A negative Harmony® Test result with no associated pathological ultrasound findings allows you to rule out the tested chromosomal disorders in your unborn child with a high degree of probability. The exception is trisomy 13, which is detected in only approximately 85 – 90% of cases by non-invasive tests of maternal blood (NIPT), based upon the latest figures. However, this chromosomal disorder is very rare (with a frequency of 1:16000, depending on the mother’s age) and can be easily detected by an ultrasound scan, e.g. during first trimester screening. All NIPT methods have limitations when it comes to the detection of mosaics or structural chromosomal changes. A negative test result therefore does not rule out the possibility of other disorders in your unborn child. A number of these disorders can be detected with an accurate ultrasound scan, for example, often from the 12th week of pregnancy. This is why a genetic test such as the Harmony® Test can never replace a thorough ultrasound scan.

Yes, there are other NIPT providers in Germany. However, they either work with the rMPS method, which is based on a random sequencing of all free DNA fractions in the maternal blood, or by analysing single-nucleotide polymorphisms. The Harmony® Test has a much greater sequencing depth through the specific sequencing of the chromosomes in question (DANSR analysis). This means that is it less susceptible to interferences and more efficient since it concentrates on key sequences.

It is known that treatment with heparin (low molecular weight heparin [LMWH] therapy) leads to a shift of the GC distribution of free fetal DNA in the mother’s blood. In the Harmony® Test, the distribution of GC content is pre-defined in the analysis method and the informative value is therefore not affected by a heparin therapy. Other NIPT methods are based on the random sequencing of all free DNA fractions in maternal blood and are therefore less accurate during heparin therapy, resulting in increased test failures and a higher number of false positive and false negative results.
The Harmony® Test is not affected by heparin treatment, and no other interactions between medications and NIPT methods are known to date.

The Harmony® Test analysis is based on the analysis of free fetal DNA (cffDNA,) in the mother’s blood. The proportion of cffDNA must be at least 4% for the test to be performed. This proportion is normally above 4% in week 10+0 of pregnancy. The weight of the pregnant woman also affects the proportion of cffDNA. After a second blood sample at a later point in time during the pregnancy, the number of tests that cannot be analysed drops to 0.6%. This means that of 167 samples that are sent to us, only one remains that cannot be evaluated.
Further reasons why the test may fail include an undisclosed egg donation, the death of one fetus in what was previously a twin pregnancy (“vanishing twin”), placental mosaics or previously unknown maternal chromosomal disorders. There will be no costs to you if no result can be obtained.

Scientific studies show that the Harmony® Test only returns a false positive result in 0.04% of cases1. This is 5 times lower than NIPT methods that are based on the random mass parallel sequencing (rMPS) of fetal DNA fractions in the mother’s blood and approx. 80 times lower than traditional first trimester screening. The very rare false positive results are usually due to a difference between the genetic type of the cells in the placenta and the genetic type of the child. Since the cell-free fetal DNA comes from the placenta, the Harmony® Test basically reflects the genetic situation in the placenta. This means, for example, that some of the cells in the placenta display a trisomy and others do not (mosaic). In these cases the Harmony® Test may show a high risk for a trisomy even though the child has healthy chromosomes.

Another reason for a false positive result is the death of a fetus in what was previously a twin pregnancy. If the deceased fetus suffered from a chromosomal disorder this can lead to an apparently false positive result of the Harmony® Test since the placental material of the deceased fetus may remain for some period of time and cell-free DNA can be released into the maternal blood.

Because of the possibility of false positive results, a positive (abnormal) finding must always be confirmed by a second diagnostic, invasive method (chorionic villus sampling or amniotic puncture) with subsequent chromosome analysis before any further decisions can be made about the pregnancy.

The Harmony® Test has an excellent detection rate for trisomy 21 of 99.3%. The detection rate for trisomy 18 is 97.4%. However, false negative results can also occur. This is particularly the case for trisomy 13 (detection rate of trisomy 13: 93.8%)1. However, trisomy 13 is detected relatively reliably in the ultrasound examination as part of the first trimester screening.

Twin pregnancies may also limit the detection rate. A study by Prof. Nicolaides in London showed a detection rate of approx. 93% for trisomy 21 in twins3.

You should inform your physician directly of your decision. Since you have a right not to know in accordance with the German Genetic Diagnostics Act, the physician will then not inform you of the result of the Harmony® Test. The Harmony® Test can also be stopped at any time during the analysis. In this case, you will only be charged for the costs incurred up to the time at which the test is discontinued.

FAQ​

You can filter the FAQs here:

The Harmony® Test is a non-invasive prenatal test (NIPT). The Harmony® Test analyses fetal DNA that can be found freely in the mother’s blood. For this kind of chromosome analysis, only a blood sample has to be taken from the mother, so there is absolutely no risk for your child.

The Harmony® Test allows you to determine the risk of trisomy 21 (Down syndrome), trisomy 18 and trisomy 13. Numerical anomalies of the sex chromosomes can also be identified.

The Harmony® Test can be carried out on women who are in at least the 11th week of pregnancy (as of week 10+0). The Harmony® Test analysis is based on the detection of cell-free fetal DNA (cffDNA,) in the mother’s blood. Since the proportion of this cffDNA depends upon the week of pregnancy and must be over 4%, an earlier analysis is not possible.

No, you only have to provide a blood sample in special test tubes for the Harmony® Test. Prior to carrying out a Harmony® Test, your physician should give you an ultrasound scan to determine the gestational age, and to determine if it is a singleton or multiple pregnancy. German law also requires that you receive comprehensive counseling before any genetic test is performed.

The cost of the Harmony® Test depends upon which chromosomal disorders are analysed. Please ask your local distributor for the actual Harmony® Test price.

No. In a very small number of cases, it may not be possible to evaluate results of the Harmony® Test. One common cause of this is that the proportion of fetal DNA (cffDNA) is too low in the mother’s blood. There are other technical reasons why it may not be possible to evaluate the Harmony® Test; in all of these cases, the test will be repeated automatically by Cenata. If no clear result is obtained with the second test, we notify your physician that the findings could not be analysed. In this case you will not be charged for the test by Cenata. You may wish to submit a new blood sample at a slightly later point in time since the content of fetal DNA in the mother’s blood increases with the length of pregnancy.

The Harmony® Test is a service that you have to pay for privately, as the costs are not currently reimbursed by public health insurance plans. Private health insurance plans normally cover these costs.We recommend that you check with your health insurance plan prior to having the test performed to see if they will cover the cost. The invoice you receive from Cenata shows the cost of the services rendered according to GOÄ (statutory scale of fees for physicians). You can download forms and templates from our homepage that can be used to apply for a reimbursement of the costs by your health insurance plan. On the basis of this application, a number of public health insurance plans now reimburse the costs of the Harmony® Test.

Sex determination is possible, irrespective of the method of conception (natural, by egg donation, or by in vitro fertilisation). If you would like to know the probable sex of your child this must be indicated on the request form which you should complete together with your physician when he/she takes your blood sample.
In accordance with the Genetic Diagnostics Act, we are only allowed to inform you of the sex of your child when you reach week 14+0 of your pregnancy. If you wish to be informed of the sex and have not yet reached the 14th week of your pregnancy, we will initially only send your physician partial findings, without the sex of your child. When week 14+0 of the pregnancy is reached we will automatically send your physician a report on the sex of the fetus.

The Harmony® Test offers the opportunity of determining the sex of your unborn child. If you decide on the test option that analyses trisomies 21, 18, 13 but without an analysis of X/Y chromosomal disorders, you can request sex determination as an extra service. Please ask your local provider about the prices. In accordance with the Genetic Diagnostics Act, your physician is only allowed to inform you of the sex of your child when you reach week 14+0 of your pregnancy. If you wish to be informed of the sex and have not yet reached the 14th week of your pregnancy, we will initially only send your physician partial findings without the sex of your child. When week 14+0 of the pregnancy is reached we will automatically send your physician a report on the sex of the fetus.

Yes, the Harmony® Test is also possible with twin pregnancies. You will learn whether one of your unborn children has trisomy 21, 18 or 13. The analysis of X- and Y-chromosomal anomalies is not possible for twin pregnancies at the present time.

No. The cost for the Harmony® Test does not differ if you have a singleton or twin pregnancy. The price of the Harmony® Test depends on the test variant you choose. Please ask your local distributor for the actual Harmony® Test price.

The analysis of the fetal sex is based on the detection of sequences of the Y-chromosome, which is only available in male fetuses. If the Harmony® Test detects a sequence of a Y-chromosome it means that most probably at least one or even two of the fetuses are male. If the Harmony® Test does not detect a Y-chromosome, it means that the twins are most likely female.

Yes. You can use the Harmony® Test even if your pregnancy is the result of an in vitro fertilisation. Please let us know if you had an egg donation or not. The Harmony® Test can not determine a result in case of a secret egg donation.
If you are expecting only one child, all three Harmony® Test options are possible. If you are expecting twins, only the Harmony® Test option for trisomies 21, 18 and 13 + the fetal sex is possible at present.

The Harmony® Test is still possible in the case of egg donation; it affects neither the detection rate nor the false positive rate. The laboratory, however, must be informed of the egg donation in order to perform the appropriate bioinformatic analyses. In case of a secret egg donation the Harmony® Test can not determine a result. If you have forgotten to note an egg donation when completing the request form, this can still be taken into account before the analysis is performed.

As a result of the unique design of the Harmony® Test, your physician will be sent the laboratory findings on average after 3 working days. This is possible because of the use of very reliable and accurate microarray technology, which replaces time-consuming sequencing. The time needed for this laboratory step can thus be reduced significantly. Your physician will receive the results by fax and will then discuss them with you.

In accordance with the German Genetic Diagnosis Act, the results of the Harmony® Test will only be sent to the responsible physician of your choice. Your physician remains your main contact person before, during and after the performance of the Harmony® Test.

If the Harmony® Test returns a positive result, there is a relatively high probability that your child has one of the tested chromosomal disorders. However, since the test can also produce a false positive result, a positive (ie. abnormal) finding must always be confirmed by a second diagnostic, invasive method (chorionic villus sampling or amniocentesis). Subsequent chromosome analysis of those samples can then provide definitive diagnostic results. During genetic counseling, your physician will explain in detail the possible effects of the probable chromosomal disorder for your unborn child and provide you with information about further counseling options.

A negative Harmony® Test result with no associated pathological ultrasound findings allows you to rule out the tested chromosomal disorders in your unborn child with a high degree of probability. The exception is trisomy 13, which is detected in only approximately 85 – 90% of cases by non-invasive tests of maternal blood (NIPT), based upon the latest figures. However, this chromosomal disorder is very rare (with a frequency of 1:16000, depending on the mother’s age) and can be easily detected by an ultrasound scan, e.g. during first trimester screening. All NIPT methods have limitations when it comes to the detection of mosaics or structural chromosomal changes. A negative test result therefore does not rule out the possibility of other disorders in your unborn child. A number of these disorders can be detected with an accurate ultrasound scan, for example, often from the 12th week of pregnancy. This is why a genetic test such as the Harmony® Test can never replace a thorough ultrasound scan.

Yes, there are other NIPT providers in Germany. However, they either work with the rMPS method, which is based on a random sequencing of all free DNA fractions in the maternal blood, or by analysing single-nucleotide polymorphisms. The Harmony® Test has a much greater sequencing depth through the specific sequencing of the chromosomes in question (DANSR analysis). This means that is it less susceptible to interferences and more efficient since it concentrates on key sequences.

It is known that treatment with heparin (low molecular weight heparin [LMWH] therapy) leads to a shift of the GC distribution of free fetal DNA in the mother’s blood. In the Harmony® Test, the distribution of GC content is pre-defined in the analysis method and the informative value is therefore not affected by a heparin therapy. Other NIPT methods are based on the random sequencing of all free DNA fractions in maternal blood and are therefore less accurate during heparin therapy, resulting in increased test failures and a higher number of false positive and false negative results.
The Harmony® Test is not affected by heparin treatment, and no other interactions between medications and NIPT methods are known to date.

The Harmony® Test analysis is based on the analysis of free fetal DNA (cffDNA,) in the mother’s blood. The proportion of cffDNA must be at least 4% for the test to be performed. This proportion is normally above 4% in week 10+0 of pregnancy. The weight of the pregnant woman also affects the proportion of cffDNA. After a second blood sample at a later point in time during the pregnancy, the number of tests that cannot be analysed drops to 0.6%. This means that of 167 samples that are sent to us, only one remains that cannot be evaluated.
Further reasons why the test may fail include an undisclosed egg donation, the death of one fetus in what was previously a twin pregnancy (“vanishing twin”), placental mosaics or previously unknown maternal chromosomal disorders. There will be no costs to you if no result can be obtained.

Scientific studies show that the Harmony® Test only returns a false positive result in 0.04% of cases1. This is 5 times lower than NIPT methods that are based on the random mass parallel sequencing (rMPS) of fetal DNA fractions in the mother’s blood and approx. 80 times lower than traditional first trimester screening. The very rare false positive results are usually due to a difference between the genetic type of the cells in the placenta and the genetic type of the child. Since the cell-free fetal DNA comes from the placenta, the Harmony® Test basically reflects the genetic situation in the placenta. This means, for example, that some of the cells in the placenta display a trisomy and others do not (mosaic). In these cases the Harmony® Test may show a high risk for a trisomy even though the child has healthy chromosomes.

Another reason for a false positive result is the death of a fetus in what was previously a twin pregnancy. If the deceased fetus suffered from a chromosomal disorder this can lead to an apparently false positive result of the Harmony® Test since the placental material of the deceased fetus may remain for some period of time and cell-free DNA can be released into the maternal blood.

Because of the possibility of false positive results, a positive (abnormal) finding must always be confirmed by a second diagnostic, invasive method (chorionic villus sampling or amniotic puncture) with subsequent chromosome analysis before any further decisions can be made about the pregnancy.

The Harmony® Test has an excellent detection rate for trisomy 21 of 99.3%. The detection rate for trisomy 18 is 97.4%. However, false negative results can also occur. This is particularly the case for trisomy 13 (detection rate of trisomy 13: 93.8%)1. However, trisomy 13 is detected relatively reliably in the ultrasound examination as part of the first trimester screening.

Twin pregnancies may also limit the detection rate. A study by Prof. Nicolaides in London showed a detection rate of approx. 93% for trisomy 21 in twins3.

You should inform your physician directly of your decision. Since you have a right not to know in accordance with the German Genetic Diagnostics Act, the physician will then not inform you of the result of the Harmony® Test. The Harmony® Test can also be stopped at any time during the analysis. In this case, you will only be charged for the costs incurred up to the time at which the test is discontinued.

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