MATERNAL BLOOD FOR FETAL DNA (MBFD) / NIPT

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What is NIPT Test?

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

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.
  • 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 10 weeks 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.  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).

How is  NIPT better than others?

  • High sensitivity/specificity for low false positive and negative rates.
  • It has an accuracy of over 99.9%.
  • India’s only NIPT to be validated on the Indian population.
  • Pre and post-test genetic counseling for all patients.
  • Only NIPT to process all samples at our CAP* accredited lab in India, enabling accurate and faster reporting

This is a non-invasive assay used for the detection of Fetal trisomies like Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18) and Patau’s syndrome (Trisomy 13) using Maternal peripheral blood. In addition the assay detects 20 different types of Microdeletion syndromes like DiGeorge, William, Prader Willi, Angelman etc. The specificity of the test is >99% with a false positive rate of <0.05%.

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Key Highlights of  NIPT

1. Comprehensive view of the fetal genome

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

2. Enhanced Test Performance

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

3. Low Test Failure Rates

  •  NIPT offers >99% call rate.

4. Fastest Test results

  • The  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

NIPT is validated using 303 clinical samples from the 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.

What are the conditions that Claria NIPT, NIPT Twins, and Claria NIPT Advanced can detect?

 NIPT can detect common Aneuploidies and Sex Chromosome Abnormalities.

 

 NIPT

  • Trisomy 21 (Down Syndrome)
  • Trisomy 18 (Edwards’ Syndrome)
  • Trisomy 13 (Patau syndrome)
  • Turner Syndrome (Monosomy X/XO)
  • Klinefelter Syndrome (XXY)
  • Triple X (XXX)
  • Jacob’s Syndrome (XYY)

 NIPT Advanced

  • Rare Autosomal Aneuploidies (RAA) include trisomies in chromosomes other than 21, 18 and 13 and monosomies in all 22 chromosomes.
  • Claria NIPT Advanced screens for RAAs in addition to Trisomy 13, 18, 21 and sex chromosomes.

NIPT Twins

  • Trisomy 21
  • Trisomy 18
  • Trisomy 13

This is a non-invasive assay used for the detection of Fetal trisomies like Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18) and Patau’s syndrome (Trisomy 13) using Maternal peripheral blood. The specificity of the test is >99% with a false positive rate of <0.05%.

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