Claria Carrier Screening Test

You can now recommend Whole
Genome Sequencing based
Claria NIPT from as early as
the 9th week of pregnancy

Claria Non Invasive Prenatal Test (NIPT)

Claria Carrier Screening Test

You can now recommend SNP based
Claria NIPT from as early as
the 9th week of pregnancy

Claria Non Invasive Prenatal Test (NIPT)

Now available in India for the very first time, MedGenome Claria NIPT is an integrated solution of WGS based NIPT along with a highly customised and free genetic counselling service. Claria NIPT empowers you to guide and provide great clarity to your patients from as early as the 9th week of a pregnancy..

Claria NIPT

Aneuploidy (Singleton and Twins)

  • Trisomy 21 (Down Syndrome)
  • Trisomy 18 (Edwards’ Syndrome)
  • Trisomy 13 (Patau syndrome)
  • Monosomy X (Turner Syndrome) *
  • Other Sex Chromosomal abnormalities *
* Not available for twins

Aneuploidy

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

Microdeletions

Microdeletions occur in 1-7% of all structurally normal pregnancies. They cause severe physical and/or intellectual impairments.

  • 22q11.2 Deletion Syndrome
  • 1p36 Deletion Syndrome
  • Prader-Willi Syndrome
  • Angelman Syndrome
  • Cri-du-chat Syndrome

List of Conditions Tested by Claria NIPT

Trisomy 21

Down syndrome

Trisomy 18

Edward’s syndrome

Trisomy 13

Patau syndrome

Triploidy

Monosomy X

Turner syndrome

Sex
Chromosome
Trisomies

22q11.2
deletion
syndrome

1p36
deletion
syndrome

Prader Willi syndrome*

Angelman syndrome*

Cri-du-chat syndrome

Claria NIPT now also screens for Twins, Egg Donor and Surrogate Pregnancies

For the first time in India Claria NIPT determines

- Zygosity information
- Individual foetal fractions for dizygotic twins
- Monosomy X risk for monozygotic twins

Reported ConditionsSingletonTwins, Egg Donor and Surrogate
Trisomy 21YesYes
Trisomy 18YesYes
Trisomy 13YesYes
Monosomy XYesNo
Sex Chromosome Trisomies*YesNo

Increased Number of Doctors in India Recommending Claria NIPT to Expecting Patients

Medgenome Claria NIPT Advantage

The unique molecular biology, bioinformatics and human approach, utilised by Claria NIPT provides greater quality control capability, making it one of a kind solution. Claria NIPT provides:

1. Comprehensive view of the fetal genome
  • Screens entire fetal genome* and not just trisomies in chromosomes 21, 18, and 13 which represent only a small portion of the genome
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. Fastest Test Results
  • 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 high risk cases and the low risk cases.

An absolutely FREE genetic counselling service.

Expert genetic counselling and a knowledge centre to help and guide your patients through the entire testing process

Superior over other NIPT’s

Claria NIPT can be performed from as early as the 9th week of gestation – earlier than any other test.

Offers consistently high levels of detection across all evaluated chromosomes.

Highest levels of sensitivity and lowest levels of false positives even at low foetal fractions

Claria NIPT does NOT perform gender determination.
All samples for Claria NIPT are collected only at certified PCP&NDT certified labs.

Reimbursement on diagnostic testing.

If the patients report comes in as a “HIGH RISK”, MedGenome will offer a complete reimbursement on the further confirmatory test

Medgenome Lab located in India – Unlike most other NIPT solution providers, MedGenome is the only entity to have a state-of-the-art lab in India. The samples do not need to be sent overseas for screening and therefore our response time is 2X faster. It only takes 10 to 15 days for the report and saves valuable time of your patient during the pregnancy.

Compliance

MedGenome is a PC & PNDT certified company. We adhere to the Pre-Natal Diagnostics Techniques (Regulation & Prevention of misuse) Act , 1994

MedGenome Claria NIPT does not disclose or test for the sex of the foetus.

Claria NIPT v/s Traditional Tests

With a sensitivity of over 99.84% and a false positive rate of less than 1%, every Claria NIPT report provides a personalized risk score which is far more accurate than traditional screening procedures.

Claria NIPT screens for more chromosomal abnormalities with greater accuracy. Compared to first trimester screenings Claria NIPT has higher sensitivity and low false positive rate for the conditions screened.

Accuracy chartFirst Trimester Screen
(Sensitivity & False Positive Value)
MedGenome NIPT
(Sensitivity & False Positive Value)
Trisomy 21
Down’s Syndrome
row1-1row1-2
row1-3row1-4
Trisomy 18
Edwards Syndrome
row2-1row2-2
row2-3row2-4
Trisomy 13
Patau Syndrome
row3-1row3-2
row3-3row3-4
Monosomy X
Turner Syndrome
Does not screen
row4-1row4-2
Triploidy
Does not screen for
row5-1
Optional Microdeletion Syndromes
22q 11.2 deletion
DiGeorge Syndrome
Does not screen for
row6-1
Monosomy X
Turner Syndrome
Does not screen for
row7-1

Panorama NIPT Vs Traditional Tests

* Additional microdeletions include Angelman, Cri-du-chat, 1p36 deletion & Prader-Willi

Trimester Screening & NIPT
MedGenome Claria NIPT and Claria NIPT plusMaternal Serum Screening (MSS)Chorionic Villus Sampling (CVS)Amniocentesis
SCREENING TESTSDIAGNOSTIC TESTS
Timing>9
weeks
11-13 weeks
and/or
15-22 weeks
10-12
weeks
15-22
weeks
False
Positive
Rate
<1% 5%<<% <<1%
No. of Chromo. Conditions Tested>5+ Conditions
T21
T18
T13
Monosomy X
Triploidy, SCA
Microdeletions*
2-3 Conditions
T21
T18
& sometimes T13
All
chromosomes
All
chromosomes
PPV91% for T215%
*The only validated study in India (Wapner and Gross)

Claria NIPT v/s
Other NIPT Offerings

Non Invasive Prenatal Maternal Blood Testing
FeatureCLARIA NIPT and Claria NIPT plusOthersSignificance
Fetal Fractionright-1cross-1Huge advantage,
reduces false negatives
ValidationExtensiveVariableHuge advantage,
reduces false negatives
Validation in Indiaright-2cross-2Shows effectiveness
in Indian scenario
PC & PNDT certifiedYesNot knownMandatory in India
LaboratoryBengaluruShipped outsideReduces transit time and
need for redraws
Maternal contributionright-3cross-3Reduces false positives
Vanishing Twinright-4cross-4Reduces false positives,
>15% False positives in others
Triploidyright-5cross-5Severe birth defects risks
to mother, preeclampsia, cancer
Microdeletionright-6cross-6First and only validated study

The Methodology

Claria NIPT based on Illumina VeriseqTM Solution v2 brings this whole-genome sequencing (WGS) approach to NIPT. Sequencing of the full fetal genome provides a comprehensive view of the chromosomes. This method offers an enhanced counting technique along with cutting edge algorithms to determine the risk of aneuploidies based on a ratio between chromosomes of interest to multiple reference chromosome.

Availability Centres

Samples for MedGenome NIPT are only collected at PCP-NDT certified centres.

Contact us Today
Call us at 1800 103 7590
Email us at doctorsupport@medgenomeclaria.com

Validated Performance
of Panorama NIPT

Validation
T21, T18, T13, and MX3
Clinical Outcomes
T21, T18, T13, and MX4 (Aneuploidy Incidence)
SensitivitySpecificityPPV*
High Risk**
98%(98/100)
98%98
99.5%(389/391)
99.5100
82.9%(2.4%)
82.9%83
Average Risk**
100%(5/5)
100%100
100%(389/391)
100100
87.2%(1.0%)
87.2%87

*PPV = Positive Predictive Value
– Dar et al, November 2014
**For the purposes of calculating PPV, high risk was defined as women of or above the age of 35 at the time of delivery, and average risk was defined as women below the age of 35.

Fetal DNA & Maternal Testing

Patient Conversation

It can be administered early into the pregnancy, at 9 weeks – earlier than any other prenatal test, which empowers the parents to make informed decisions about the future of their baby.

MedGenome (Available from week 9)
99%
Integrated Screening (Available from week 15)
96%
Serum Integrated Screening (Available from week 15)
88%
Quad Screening (Available from week 15)
81%
First Trimester Screening (Available from week 15)
80%

The international society of PreNatal diagnostics recognises that NIPT can be very useful as a screening test for women. A positive / high risk report must be confirmed by an invasive test.

Medgenome Claria NIPT is backed by 21st century technology and PURE SCIENCE, and does not rely on any traditional methodology which are low on accuracy. It uniquely distinguishes between fetal and maternal cell-free DNA, leading to fewer false positives and a higher accuracy of over 99.84%.

Due to the higher false positive rates in traditional screening tests, many women might have to undergo the invasive tests of Amniocentesis /CVS unnecessarily and which carry a slight risk factor of miscarriage.

Medgenome
0.1%
Serum Integrated Screening
7%
Quad Screening
10%
Quad Screening
9%

The Claria NIPT screening test provides a more comprehensive basic panel compared to any other screening methods.

In the event of a positive result for any of the patients we will cover the costs for doing an AmnioCentesis test for that patient.

If you don’t
tell them,
who will?

Join us in empowering your patients with
the best options in genetic screening.

Become a Provider

Joining our provider network is very simple.
All you need to do is

email us at diagnostics@medgenomeclaria.com
or dial 1800 – 1037590

Our representative will get in touch with you within 24 hours to help you with the registration. You can then start prescribing the test right away and help your patients gain clarity about their genetic health.