The Harmony prenatal test is a simple, safe and non-invasive test that allows you to assess the risk of chromosomal disorders such as Down's syndrome and other trisomies. The test also allows you to determine the sex of the child and detect the risk of sex chromosome disorders (X, Y). It is performed with a blood sample taken from the mother. When should I do the Harmony Prenatal Test?

Contents:

  1. Harmony test - effectiveness
  2. Harmony test - trisomy
  3. Harmony test - sex chromosome disorders
  4. Harmony test - when to perform?

Prenatal Harmony Testis based on the latest advances in non-invasive prenatal testing. It is a simple and safe blood test for mother and baby to assess the risk of certain trisomies in the fetus.

Harmony test - effectiveness

There are other non-invasive screening for fetal genetic defects using maternal serum chemistry and / or ultrasound. However, for trisomy 21, the false-positive rate is as high as 5% and the false-negative rate is as high as 30%.

These tests may therefore erroneously indicate the existence of a trisomy in the fetus, in a situation where the result should be negative (the test result is then false positive) or, on the contrary, they may falsely indicate the absence of a fetal trisomy, even though trisomy does exist ( the test result is then false negative).

The Harmony Test False Positive and False Negative Rates are significantly lower.

Diagnostic tests, such as amniocentesis or chorionic villus sampling (CVS), are very accurate in diagnosing fetal trisomy, however, as invasive tests, there is a risk of losing a baby.

The Harmony Prenatal Test detects more than 99% of fetal trisomy 21 cases with a false-positive rate of less than 0.1%.

Harmony test - trisomy

Human cells contain 23 pairs of chromosomes that carry genetic information, made of DNA strands and proteins. Trisomy is a chromosomal disorder where three copies of the chromosome are present instead of the normal two.

  • Trisomia 21

This is the most common form of trisomy in newborn babies. It consists in the presence of an extra copy of the chromosome21. This genetic abnormality causes Down syndrome.

The disease presents with mental retardation of varying severity - from mild to moderate. Patients also suffer from abnormal structure of the digestive system and congenital heart defects. Down syndrome is estimated to occur in 1 in 740 births.

  • Trisomy 18

This defect is related to the presence of an extra copy of chromosome 18. Trisomy 18 causes Edwards syndrome and is associated with a high risk of miscarriage.

Infants born with Edwards syndrome have many abnormalities that shorten their life significantly. Edwards syndrome is diagnosed at 1 in 5,000 births.

  • Trisomy 13

This trisomy develops when an extra copy of chromosome 13 appears. This is the cause of Patau syndrome, which is at high risk of miscarriage. Infants with trisomy 13 typically develop serious congenital heart disease and other severe abnormalities.

Children with this defect rarely live to a year. The prevalence of trisomy 13 is estimated at 1 in 16,000 births.

Harmony test - sex chromosome disorders

The sex chromosomes (X and Y) determine the sex. Abnormalities of the X and Y sex chromosomes, which lead to many diseases, can be due to the absence of one copy of a chromosome, the presence of an extra copy, or the presence of an incomplete copy.

Harmony test with the option of X, Y chromosome analysis allows you to assess the risk of syndromes:

  • XXX
  • XYY
  • XXYY
  • XXY (Klinefelter's syndrome)
  • monosomy X (X0) in girls (Turner syndrome)

The severity of symptoms associated with these syndromes varies greatly. If they do occur, they are usually of mild physical or behavioral disturbance.

Harmony test - when to perform?

The Harmony Prenatal Test can be ordered by a gynecologist in the case of women who are at least 10 weeks pregnant. It is executed in the case of:

  • single pregnancies from in vitro fertilization (IVF) regardless of the method used, including pregnancies from a foreign ovum
  • twin pregnancies (two-fertile) from natural conception and pregnancies conceived after implantation of their own egg. The test does not identify the risk of mosaicism, partial trisomies, or translocations
  • NIFTY test: non-invasive prenatal testing. What is, how much does it cost?
  • SANCO test - sensitivity. What defects does the fetus detect?
  • Double test in pregnancy - PAPP-A and betahCG. Standards and results
  • Triple test: non-invasive prenatal test
  • Fetal translucency assessment - non-invasive prenatal examination
About the authorAnna Jarosz A journalist who has been involved in popularizing he alth education for over 40 years. Winner of many competitions for journalists dealing with medicine and he alth. She received, among others The "Golden OTIS" Trust Award in the "Media and He alth" category, St. Kamil awarded on the occasion of the World Day of the Sick, twice the "Crystal Pen" in the national competition for journalists promoting he alth, and many awards and distinctions in competitions for the "Medical Journalist of the Year" organized by the Polish Association of Journalists for He alth.

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