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Non-invasive prenatal testing (NIPT)

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Non-Invasive Prenatal Testing (NIPT)-

At present, there are 2 options to ascertain the chromosome health of a foetus in pregnant women:

    • Non-invasive Method. e.g. Combined test(NIPT).
    • Invasive Method. This is a diagnostic test with 100% detection for the aneuploidies but there is a small risk of miscarriage. e.g. CVS and amniocentesis
  • NIPT, is a technique which analyses cell-free fetal DNA circulating in maternal blood, for prenatal screening and testing of trisomy 21, trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome); we can also screen for other abnormalities including triploidy and microdeletion.
  • The testing is non-invasive, involving a maternal blood draw, so the pregnancy is not put at risk for miscarriage or other adverse outcomes associated with invasive testing procedures.
  • DNA from the fetus circulates in maternal blood. Unlike intact fetal cells in maternal blood, which can persist for years after a pregnancy, circulating cell-free fetal DNA (ccffDNA) results from the breakdown of fetal cells (mostly placental) and clears from the maternal system within hours. Fetal DNA detected during a pregnancy, therefore, represents DNA from the current fetus.
  • The proportion fetal DNA derived from the placenta with respect to total amount of cfDNA is known as the fetal fraction.
  • Indications for NIPT:
    • advanced maternal age
    • an abnormal serum screen
    • personal or family history of aneuploidy
    • abnormal ultrasound
  • The NIPT test requires taking a small maternal blood sample. cfDNA in the maternal blood is then analysed with our proprietary genetic sequencing technology and bioinformatics pipelines to screen for any chromosomal abnormality in the foetus.

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Non-invasive prenatal testing (NIPT) (1)


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