Harmony prenatal test

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The Harmony test assesses the risk of fetal trisomy in pregnancies of 10 weeks or more and also includes the option for assessing the Y chromosome, which can provide information on the sex of the fetus.

PRENATAL HARMONY TEST

It is a non-invasive prenatal diagnostic test that accurately detects the most common fetal trisomies, trisomy 21 or Down syndrome, trisomy 18 or Edwards syndrome, trisomy 13 or Patau syndrome, aneuploidy of the X and Y chromosomes (Turner syndrome, Klinefelter, XYY) and fetal sex from the 10th week of pregnancy until the end.
It is a safe and risk-free test for the mother and the fetus as it is performed on a simple maternal blood sample.

HOW IT WORKS

The test is a combination of the latest scientific findings in the field of prenatal diagnosis and innovative molecular biology technologies. Numerous scientific studies have demonstrated the presence of fetal DNA in maternal blood during the entire pregnancy. Total DNA (fetal and maternal) is extracted from the blood, then the fetus is identified, which differs from the mother’s because it is in the form of small fragments. Markers identifying fetal chromosomes 13, 18, 21, X and Y are sequenced and analysed by direct analysis of the fetal DNA itself. This allows to investigate if there is an extra copy of the chromosome analyzed.

HOW ACCURATE IT IS

The test has a diagnostic reliability of more than 99% for trisomy 21 with a false positive rate of less than 0.1%. Il test di cromosomi X e Y offre una precisione maggiore del 99% nella determinazione del sesso del feto. Il test determina il rischio di aneuploidia dei cromosomi X e Y.

COMPARISON OF PRENATAL TESTS

Advantages and limitations

Prenatal screening tests of the first trimester of pregnancy, such as the measurement of nuchal translucency combined with the two biochemical markers, free-βHCG and PAPP-A, are non-invasive prenatal tests, but have a false positive rate of up to 5% and do not detect correctly up to 30% of cases of trisomy 21. These tests can, in fact, report a positive for a fetal trisomy even if in reality we are in the presence of a pregnancy with a healthy fetus (false positive) or could report a negative for a fetal trisomy, while in fact we are in the presence of a pregnancy with a fetus affected by fetal trisomy (false negative). Prenatal diagnostic tests, such as amniocentesis and villocentesis, although having a diagnostic reliability of more than 99% for all fetal trisomies and aneuploidies, are highly invasive and present a potential risk to the health of the pregnant woman and the fetus (to the point of causing abortion).

 

 

WHAT HAPPENS IF THE TEST IS SUCCESSFUL?

Any positive result, after appropriate genetic counselling, can be confirmed by chromosomal analysis by amniocentesis.

WHO CAN ACCESS

  • HARMONY Prenatal Test can be performed from the 10th week of pregnancy.
  • It can be performed in the case of a spontaneous pregnancy with a single fetus and “in vitro” fertilization (IVF, ICSI) either with self-donation or from donors of non-parental oocytes, but always in the presence of a single fetus.
  • It can be performed in case of spontaneous twin pregnancy and “in vitro” fertilization with self-donation of oocytes. In twin pregnancies it is not yet possible to perform the test for the X and Y chromosomes, but only for the 13, 18, 21 chromosomes.
  • The test does not assess the risk of mosaicism, partial trisomy or translocations.

ACOG (American College of Obstetricians and Gynecologists) www.acog.org, SMFM (Society for Maternal-Fetal Medicine) www.smfm.org, ISPD (International Society for Prenatal Diagnosis) www.ispd.org and NSGC (National Society of Genetic Counselors) www.nsgc.org, also recommend its use in pregnancies considered to be at high genetic risk.

LEAD TIMES

Twelve working days.

EASY

All you need is a common maternal blood sample that can be taken from the eleventh week of gestation.

ACCURATE

  • High accuracy in detecting the most common fetal trisomies and aneuploidies
  • Very low false positive rate (less than 0.1%)
  • Individual results that can be clearly interpreted, also by means of graphs

 

They are performed by appointment:

  • OSTETRIC ECOGRAPHY 1st and 2nd LEVEL
  • ANEUPLOIDY SCREENING: COMBINED TEST (BI-TEST)
  • PREECLAMPSIA SCREENING AND GROWTH RETARDATION
  • HARMONY TEST
  • GENETIC OR PREMORPHOLOGICAL ULTRASONOGRAPHY
  • FETAL ECHOCARDIOGRAPHY
  • STUDY OF TWIN PREGNANCIES
  • CARDIOTOCOGRAPHY
  • AMANIOCEANTICS
  • VILLOCENTESI