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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 made technology transfer and became the first in Russia and the CIS equipped by Roche (who acquired Ariosa Diagnostics Inc. in 2015) to perform 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.