Harmony prenatal test - Warsaw

See also: Nifty Test, PAPP-A Test, SANCO Test.

What information can the Harmony prenatal test provide?

Harmony prenatal test determines the risk of trisomy in the fetus based on measurement of the relative number of chromosomes in the mother's blood. Harmony test assesses the risk of trisomy 21, 18 and 13 in the fetus, but does not exclude all abnormalities.

Harmony prenatal test detects > 99% of trisomy 21 cases in the fetus, and the false positive rate is < 0.1%.

Who can have the Harmony prenatal test performed?

A doctor may order the Harmony prenatal test for women who are at least 10 weeks pregnant. Harmony test is available for women with single or twin pregnancies, as well as after in vitro fertilization. The test is not intended to assess the risk of mosaicism, partial trisomies or translocations. All additional questions regarding the Harmony prenatal test should be directed to the doctor ordering the test.

How does the Harmony test work?

Harmony prenatal test is a non-invasive test that allows analysis of cell-free DNA (cfDNA) from the mother's blood.

The test involves taking the mother's blood and sending the sample to a laboratory in Germany.

Results are obtained within 2 weeks.

What diseases does the Harmony test detect?

The test aims to facilitate assessment of the risk of the three most common trisomies, i.e., genetic defects of the fetus related to maternal age:

Trisomy 21 is caused by the presence of an extra copy of chromosome 21, which causes Down syndrome. Children born with Down syndrome may have mild to moderate intellectual disability, heart defects or other dysfunctions. Down syndrome is estimated to occur in 1:740 of all children born.
Trisomy 18 occurs when an extra copy of chromosome 18 appears. Trisomy 18 causes Edwards syndrome and is associated with a high risk of miscarriage. Children born with Edwards syndrome may have various birth defects and very limited life expectancy. The incidence of Edwards syndrome is estimated at 1:5000 births.
Trisomy 13 is the result of the presence of an extra copy of chromosome 13. Trisomy 13 causes Patau syndrome and is associated with a high risk of miscarriage. Children born with Patau syndrome may have severe congenital heart defects and other disorders. Cases of survival beyond 1 year are extremely rare. The occurrence of trisomy 13 is estimated at approximately 1:16,000 births.

In addition, the test allows detection of sex chromosome number disorders (X0, XXX, XXY, XYY, XXYY).

Does the Harmony test allow assessment of fetal sex?

Yes. When performing the Harmony prenatal test, you can choose the option of analyzing X and Y chromosomes to obtain information about the fetal sex and sex chromosome number disorders.

Who can have the Harmony test performed?

The test is intended for patients in at least the 10th week of single or twin pregnancy, resulting from natural or in vitro fertilization. Harmony prenatal test is not suitable for patients with multiple pregnancies with more than 2 embryos – triplet pregnancy and higher order pregnancies.

Who should have the Harmony test performed?

Every pregnant woman, regardless of age, history, or course of the current pregnancy, should be offered the possibility of prenatal genetic diagnosis. The choice of method depends on the clinical situation and the patient's decision.

Testing of free fetal DNA in the mother's blood is a modern diagnostic method that has only recently been available commercially. There are currently no recommendations from the Polish Gynecological Society regarding indications for performing the test.

Based on a review of the literature, a particular group of pregnant women who should be recommended to have the HARMONY test are:

pregnant women determined to perform a reliable non-invasive test to exclude Down syndrome
pregnant women over 35 years of age who are afraid of invasive diagnostics
pregnant women with an abnormal screening test result (genetic ultrasound + PAPP-A test) who are afraid of invasive diagnostics
pregnant women with contraindications to genetic diagnostics, e.g., threatened miscarriage, taking anticoagulants, maternal infectious diseases (hepatitis B, HIV)
pregnant women in pregnancies obtained as a result of long-term infertility treatment, including in vitro fertilization

Harmony test is taken during clinic opening hours. Waiting time for results is 14 working days from the moment the sample is delivered to the laboratory.