F.A.Q. For pregnant women

it's your decision
The following information is published to inform about Harmony prenatal test characteristics. Consult your doctor before deciding to run Harmony prenatal tests.

What information that Harmony Prenatal Test is able to provide?
The test detects the presence of the most common fetal trisomies (trisomy 13, 18, 21) and aneuploidy of the X and Y chromosomes (such as the Turner Syndrome, Klinefelter, XYY) measuring the amount of fetal DNA present in maternal blood by means of genetic markers that identify the fetal chromosomes 13, 18, 21, X and Y. it provides information on the sex of the fetus.
The test does not exclude the presence of any other non- common fetal abnormalities.

Who can have the Harmony Prenatal Test ?
All singleton pregnancies and twin

All pregnant women with gestational age of 10 weeks can take the test . Harmony can be executed in the event of a spontaneous pregnancy with a single fetus and from fertilization " in vitro " fertilization (IVF , ICSI ) either with self - donation is from donors not parental oocytes , but always in the presence of a single fetus . Harmony can also be performed in case of spontaneous twin pregnancy and " in vitro " fertilization with self- donation of oocytes . In twin pregnancies still you can not test for the X and Y chromosomes , but only for chromosomes 13 , 18 , 21 .

When can Harmony Prenatal Test ?
From the 10 th week

The test can be performed from the 10th week of gestation. There is no deadline to run because ' the free fetal DNA testing remains in the bloodstream of the mother for the entire duration of the pregnancy.

How do Harmony Prenatal Test?
Just a normal mother of venous blood sampling.
For this reason the test is quite safe for the mother and fetus.
No need to be fast to do so.

As they present the results of Harmony Prenatal Test?
Simple and clear
• "High Risk" or "low risk" for each of trisomies and fetal aneuploidy analyzed
• The results are customized and are derived from the combination of the analysis of fetal DNA in maternal blood, maternal age and gestational age
• The 99.5 % of the values obtained from the tests are performed to one of two extremes *
• The results are reported in a clear and also in graphic form.

How accurate Harmony Prenatal Test?
High screening accuracy
The test has an extremely high diagnostic accuracy rate . The detection of trisomy 21 and aneuploidy of the X and Y chromosomes has a greater accuracy of 99%. The analysis of trisomy 18 has a higher accuracy of 98%; for trisomy 13 the accuracy is 80% (this due to the rarity of fetal abnormality).
For all trisomies and fetal aneuploidies diagnosed with the test has a extremely low false positive rate, to below 0.1 % of the cases.

Harmony Prenatal Test is an analogue of the first screening test and second trimester of pregnancy?
No
The screening tests are probabilistic type of indirect tests that are based on ultrasound examinations on the fetus and/or biochemical investigations of the maternal blood, by means of which some are measured fetal markers which may vary in quantities when they are present some chromosomal disorders.
The test Harmony is instead a direct analysis of fetal DNA present in the maternal blood. In fact the dosa test the relative amount of fetal DNA of chromosomes 13, 18, 21, X and Y to determine trisomies and fetal aneuploidy with great accuracy.

Harmony Prenatal Test is more reliable than the invasive prenatal screening test not currently in use?
Yes
The prenatal screening tests can bring positivity for fetal trisomy although in fact we are in the presence of a pregnancy with healthy fetus (false positive) or may bring negativity to a fetal trisomy, while in reality we find ourselves in the presence of a pregnancy with fetal trisomy (false negative).
These screening tests have a false positive rate of up to 5% and not detect up to 30% of cases of trisomy 21 fetus.

With the Harmony test , the positive and false negative rates are much lower and less than 0.1 % .

Harmony Prenatal Test is safe or is a risk to the health of the mother or the fetus?
Sure
Being run on a common aspiration of the maternal blood, the test is completely safe for both mother and fetus.
Other diagnostic tests such as amniocentesis and chorionic villus sampling, although having high diagnostic accuracy for all trisomies and fetal aneuploidies, are highly invasive and pose a risk of fetal loss, require antibiotic therapy and also entail a risk, albeit minimal, for the mother's health.

What is fetal trisomy?
Each person has 23 pairs of chromosomes, which are strands of DNA and proteins that contain genetic information. Trisomy is an abnormality that occurs when there are three copies of a particular chromosome instead of two.

Trisomy 21 is due to the presence of an extra copy of chromosome 21 and is the most common kind of trisomy at birth. Trisomy 21 is the cause of Down syndrome is associated with mild to moderate intellectual disability and can lead to genetic defects of the digestive system and heart defects. It is estimated that trisomy 21 is present in about 1 in 740 births.

Trisomy 18 is due to the presence of an extra copy of chromosome 18. Trisomy 18 is the cause of Edwards syndrome and is associated with a high rate of miscarriages. Babies born with trisomy 18 may have different cardiac birth defects and other medical conditions and a short life span. It is estimated that trisomy 18 is present in about 1 in 5,000 births.

Trisomy 13 is due to the presence of an extra copy of chromosome 13. Trisomy 13 is the cause of Patau syndrome and is associated with a high rate of miscarriages. Children with trisomy 13 typically have congenital heart defects and other serious medical conditions. Rarely survive beyond the first year of life. It is estimated that trisomy 13 is present in about 1 in 16,000 births.

What is fetal aneuploidy?
Harmony prenatal test analyzes the X and Y sex chromosomes, noting the most 'common fetal aneuploidies, such as Klinefelter syndrome (caused by the presence of a copy in more' of the X chromosome, chromosomal structure with XXX, XYY, XXYY, XXY) and Turner syndrome (lack of a copy of the X chromosome, chromosomal structure 45, X0). These syndromes occur with a gravity 'of highly variable conditions, but most of those affected have mild clinical signs, when manifested.