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Non-Invasive prenatal testing (NIPT)


NIPT is a non-invasive prenatal testing for fetal chromosome abnormalities, which can be performed as early as 10 weeks in pregnancy to assess the risk of having a child with Down syndrome and other severe genetic conditions.

NIPT analyzes cell-free fetal DNA circulating in maternal blood to screen pregnancies for the most common fetal chromosome aberrations, also the gender of the fetus can be determined.

Non-invasive prenatal testing is strongly recommended if:

  • it is identified an elevated risk of fetal chromosome pathologies based on biochemical screening and ultrasound results;
  • there is a presence of balanced chromosome abnormalities in one of the expectant parents;
  • expectant mother is of over 35 years of age;
  • expectant father is of over 42 years of age.

Starting from Q4 2013, HSCI offers in Russia a service of non-invasive prenatal testing followed by a genetic consultation on the results under Prenetix® brand name*.

Prenetix® service is based on the analysis elaborated in the USA - Ariosa Diagnostics' Harmony™ Prenatal Test that delivers a high level of accuracy on the back of a proprietary cell-free DNA technology (AcfS) including precise measurement of fetal fraction found in maternal blood and individualized results scoring.

Initially it was a send-out test. In 2017 HSCI’s Genetico® laboratory makes technology transfer and becomes the first in Russia and the CIS equipped by Roche (who acquired Ariosa Diagnostics Inc. in 2015) to produce the Harmony Prenatal Test locally.

The test covers the most common chromosomal disorders:

  • Trisomy 21 - Down syndrome (disease prevalence 1 : 700)
  • Trisomy 18 - Edwards syndrome (disease prevalence 1 : 6 000)
  • Trisomy 13 - Patau syndrome (disease prevalence 1 : 7 000)
  • 47,XXY or XXY - Klinefelter syndrome (disease prevalence 1 : 700)
  • 45,X or 45,X0 - Turner syndrome (disease prevalence 1 : 1 500)
  • Other sex chromosome aneuploidies, such as XXX - X chromosome gain in females, and XYY -Y chromosome gain in males (disease prevalence: 1 in 1 000)

The test also allows to identify the future child’s gender – if parents request accordingly.

Why Harmony Prenatal Test?

    • Non-invasive prenatal screening – there is no need to come into contact with the amniotic sac (which in certain cases could lead to a miscarriage or other complications including fetal infection): the test requires a simple blood draw from the pregnant woman’s arm.
    • Effective early in pregnancy term – the test can be performed as early as 10 weeks, giving the family time to make a decision.
    • High degree of accuracy – detection rate is greater than 99% for trisomy 21, a false positive result of less than 0.1% (conventional first trimester screening returns false positive results up to 5% of the time): Harmony may minimize anxiety and follow-up invasive procedures by delivering clear information.
    • Trusted technology – blinded clinical studies in >23,000 women of all ages and risk categories; 1,000,000 pregnancies tested worldwide since Harmony® initial introduction in 2012. 
    • Singleton pregnancies, twin pregnancies, IVF pregnancies (self and non-self egg donors).

* The service is provided by GENETICO LLC (Center of Genetics and Reproductive Medicine GENETICO LLC) – a subsidiary of HSCI.