iGene®Non-Invasive Prenatal Test (NIPT)

iGene® Non-Invasive Prenatal Test (NIPT) that analyses cell-free fetal DNA (cffDNA) present in maternal blood. This DNA comes from the placenta and circulates freely in the maternal bloodstream.

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Test Introduction

iGene® Non-Invasive Prenatal Test (NIPT) that analyses cell-free fetal DNA (cffDNA) present in maternal blood. This DNA comes from the placenta and circulates freely in the maternal bloodstream.

iGene® NIPT screens for Trisomy 21 (Down Syndrome), Trisomy 18 (Edward Syndrome), Trisomy 13 (Patau Syndrome), Sex Chromosome Aneuploidies and selected Deletions1.

What iGene® NIPT covers

iGene® NIPT can detect Trisomy 21, 18, 13, Sex Chromosome Aneuploidies and selected Deletion Syndromes. iGene® NIPT can be performed on expectant mothers who may be considering, or have been offered, prenatal testing for fetal trisomy2.

Trisomy Aneuploidies 1

  • Trisomy 21 (Down Syndrome)
  • Trisomy 18 (Edwards Syndrome)
  • Trisomy 13 (Patau Syndrome)

Sex Chromosome Aneuploidies 3

  • Trisomy X (Triple X Syndrome)

  • Monosomy X (Turner Syndrome)

  • XXY (Klinefelter Syndrome)

  • XYY (Jacobs Syndrome)

Deletion/Duplication Syndromes *

  • 22q11.2 Deletion Syndrome
    (DiGeorge Syndrome)
  • 5p15 Deletion Syndrome
    (Cri du Chat Syndrome)
  • 1p36 Deletion Syndrome
  • 11q23-q25 Microdeletion Syndrome
    (Jacobsen Syndrome)
  • 15q11-q13 Microdeletion Syndrome
    (Prader-Willi/Angelman Syndrome)
  • 4p16.3 Deletion Syndrome
    (Wolf-Hirschhorn Syndrome)
  • Chromosome 9p Deletion Syndrome
  • 17p11.2 Smith-Magenis Syndrome
  • Chromosome 18p Deletion Syndrome
  • 18q22.3-q23 Distal Chromosome
    18q Deletion Syndrome

Additional Trisomies *

  • Trisomy 9

  • Trisomy 16

  • Trisomy 22

Fetal Sex *

  • Information on fetal sex will be reported if requested.

Medical treatment has to be individualised and can only be rendered after adequate assessment of your condition through appropriate clinical examination, and after discussion with your doctor. You should not rely on the information provided herein. Please note that the contents of this page are provided on the understanding that no surgical or medical advice or recommendation is being rendered.

Sources:
1. Zhang et al.,Ultrasound Obstet. & Gynecol 2015
2. Liu H, et al., PLoS One 2016.
3. Jiang F, et al. BMC Medical Genomics, 2012, 5:57.
* Based on in-silico data.

How it Works

Non-invasive prenatal testing (NIPT) is a simple blood test performed during pregnancy. It analyses cell-free fetal DNA circulating in the mother’s blood to detect genetic abnormalities such as Down syndrome. The test is safe, poses no risk to the baby, and provides highly accurate results, which is then sent to a laboratory for analysis. Results are usually available within a week, giving parents valuable information about their baby’s health early in the pregnancy.

Patient Story

A Patient’s Journey: Invasive vs. Non-Invasive Testing

When Emily found out she was pregnant, joy quickly turned to worry. Her family history of genetic conditions made her pregnancy high-risk. She had initially heard about invasive testing, which involved needles and carried a risk of miscarriage. The thought of it filled Emily with dread and anxiety. Then, she learned about non-invasive prenatal testing (NIPT). A simple blood draw from her arm, no risk to her baby, and accurate results. Choosing NIPT allowed Emily to feel at ease, knowing she could monitor her baby’s health without the fear and stress of invasive procedures. When her results came back normal, the relief was immense, allowing her to enjoy her pregnancy with peace of mind.

Other Information

iGene® Non-Invasive Prenatal Test (NIPT)

More than 11 million iGene® NIPT samples processed over 100 countries globally.1

Over 1.93 million pregnancies clinical study done worldwide – established through rigorous validation in a single multicentre NIPT study using iGene® technology platform2.

Importance of Prenatal Testing – Proactive approach to prenatal care

  • Enabling early detection as early as 10 weeks gestation
  • Non-invasive procedure requiring only a maternal blood sample
  • Empower informed decision-making
  • Personalized medical management
  • Peace of mind by reducing uncertainty; timely results in 7 to 10 working days
  • Promoting best outcomes for families facing genetic conditions challenges
  • Suitable for IVF, Egg Donors & Vanishing Twin

Trisomy 21, 18 and 13 are three of the most common chromosomal abnormalities, usually due to the presence of one extra copy of chromosome 21, 18 or 13. iGene® NIPT test is designed to screen for the risk that the fetus is affected by these trisomies, as well as other rare abnormalities including Sex Chromosome Aneuploidies, specified Deletion Syndromes (small missing sections of specified chromosomes)3 and Additional Trisomies. If you wish to find out information on these additional abnormalities, you may choose accordingly.

iGene® Non-Invasive Prenatal Test has an overall detection rate of 99% for Trisomy 21, Trisomy 18 & Trisomy 13 and a False Positive rate of 0.05%4. The test delivers a Positive Predictive Value (PPV) of 92.2% for Trisomy 21 based on a published study of more than 146,000 pregnancies3. If requested, iGene Laboratory will report information on fetal sex for aid in the risk assessment of X-linked disorders.

Source:

  1. https://www.niftytest.com/introduction-to-nifty
    (based on NIPT done on the iGene® NIPT platform)
  2. Ji X, Li J, Huang Y, et al. Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests. Genet Med. 2019;21(10):2293-2302. doi:10.1038/s41436-019-0510-5;
  3. Liu et al., PLoS One 2016;
  4. Zhang et al., Ultrasound Obstet Gynecol 2015.