What is NIPT?

MedGenome Claria NIPT is a simple, safe, and non-invasive prenatal screening test that provides assurance to expectant parents with accurate genetic information about their baby. The test uses advanced bioinformatics technology to evaluate foetal DNA (of placental origin) in maternal blood.

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Prevalence

  1. [1] Morris JK1, Wald NJ, Mutton DE, Alberman E. Comparison of models of maternal age-specific risk for Down syndrome live births. Prenat Diagn. 2003 Mar;23(3):252-8.
  2. [2] Combined prevalence using higher end of published ranges from Gross et al. Prenatal Diagnosis 2011; 39, 259-266;

What are the common conditions that Claria NIPT and Claria NIPT plus can detect?

Claria NIPT can detect common aneuploidies, Sex Chromosome Abnormalities, and Triploidy.

Claria NIPT

Aneuploidy (Singleton and Twins)

  • Trisomies 21
  • Trisomies 18
  • Trisomies 13
  • Monosomy X
  • Other Sex Chromosomal abnormalities

Claria NIPT Plus

Aneuploidy

  • Trisomy 21 (Down Syndrome)
  • Trisomy 18 (Edwards’ Syndrome)
  • Trisomy 13 (Patau syndrome)
  • Triploidy
  • Monosomy X (Turner Syndrome)
  • Klinefelter Syndrome, Triple X
  • Jacob’s Syndrome

Microdeletions

  • Microdeletions are identified in about 6% of structurally abnormal and 1%-7% (should be 1.7%) of all structurally normal pregnancies. They cause severe physical and/or intellectual impairments. Some of the common microdeletions are:
  • 22q11.2 Deletion Syndrome
  • 1p36 Deletion Syndrome
  • Prader-Willi Syndrome
  • Angelman Syndrome
  • Cri-du-chat Syndrome

Claria NIPT does not test for the gender of the fetus. MedGenome is a PC & PNDT certified company

Key Highlights of Claria NIPT

1. Comprehensive view of the fetal genome

  • Screens entire fetal genome* and not just trisomies in chromosomes 21, 18, and 13

2. Test Performance

  • Sensitivity and specificity of >99.9% for Trisomy 21, 18, 13
  • >99% call rate

3. Low Test Failure Rates

NIPT test failure or no call rates vary significantly based on the test methodology used. Tests that use a targeted approach have demonstrated higher rates of test failure than WGS-based tests, in both validation and clinical experience studies. WGS assays provide ample data across the entire diploid genome. This coverage produces an analytical reference that current analytical techniques can use to reduce assay- and sample-specific biases. These normalization steps lead to high sensitivity when working with low fetal fraction samples, which means correct aneuploidy calls can be made in the range of fetal fractions that typically requires QC rejection when using targeted approaches1.

4. Low Test Failure Rates

  • The Claria NIPT offers a fast three-step automated workflow for NIPT
  • The turn around time is less than or equal to 7 working days

5. Extensive Validation on Indian Samples

Claria NIPT is validated using 303 clinical samples from Indian population which included both known high risk samples and samples tested with cross platform. The validation successfully identified 51 high risk cases and the low risk cases.

[*] Aneuploidies for other chromosomes will be available soon. [1] Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem. 2014;60(1):243-250.

Why do you need the NIPT test?

  • Helps identify fetuses at risk of serious chromosomal abnormality
  • Gives reassurance to expecting parents
  • Leads to better management of a child’s genetic health by providing early information. Early information about the child’s genetic health leads to better management
  • Prepares for the birth and early intervention wherever possible

When can the NIPT test be done?

The NIPT screening test can be performed from as early as the 9 to 10 week of pregnancy.

Who needs to get tested?

All pregnant women who need insight into their baby’s development can avail the test, regardless of their age. Claria NIPT is recommended for all types of pregnancies. Medical societies today, support the use of NIPT as the first line of screening for all pregnancies, irrespective of the risk. For physicians, it is important to recommend this test for pregnancies where:

  • The woman is above 30 years of age
  • A high risk for abnormality is found serum screening
  • Certain abnormalities on ultrasound are identified
  • There is a family history of chromosomal conditions or birth defects
  • Couples have had a child with a chromosomal disorder
  • A couple has a history of infertility or pregnancy loss (miscarriages or stillbirths)

Why is Claria NIPT better?

Claria NIPT is better because:

  • High sensitivity/ specificity for low false positive and negative rates
  • It has an accuracy of over 99.9%
  • Only NIPT to be validated in the Indian patient group
  • Reports fetal fraction in each case, providing greater confidence in the results of the test
  • FREE pre and post-test genetic counselling for all patients
  • Only NIPT to process all samples at our CAP* accredited lab in India, enabling accurate and faster reporting
*: College of American Pathologist (CAP)- This is the highest standard of quality accreditation that is given to a diagnostic lab globally.

Claria NIPT workflow

  • To book the test, talk to our local representative or dial 1800 103 3691 or Book a Test online or diagnostics@medgenome.com
  • A quick and simple blood draw from the mother’s arm, posing no risk to the baby
  • The sample is shipped to MedGenome and analyzed using Next Generation Sequencing technology
  • The result is generated within 7 working days of receiving the sample
  • Free Genetic Counselling is offered to help you understand the results

Brochures

NIPT (With Microdeletions)

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