DISCOVER™ Non Invasive Prenatal Screening

Why Expanded Carrier Screening

Every woman who wants to know more about her pregnancy should be offered non-invasive prenatal screening (NIPT).

100X lower false positives

The false positive rate of NIPT is 100x lower than serum screening in patients in the general obstetric population.1

20X better positive predictive value

Positive predictive value (PPV) is 20-fold higher than in standard serum screening.1

Recognized by medical societies

Professional societies such as ACOG and ACMG endorse and/or recognize NIPS as a screening option for all pregnant women.2,3

The Discover™ NIPT a test is for pregnant women to estimate the
probability that their fetus is affected with:• Trisomy 21 (Down’s Syndrome)

• Trisomy 18 (Edward’s Syndrome)
• Trisomy 13 (Patau’s Syndrome)

*Fetal sex determination is also a posssible result from this test.

How does the test work?

The Discover™ NIPT test directly measures DNA ratios in the maternal plasma to calculate the risks of the fetus being affected with Trisomy 21, 18 or 13.
During pregnancy the placenta leaks cell-free DNA which circulates in the maternal bloodstream. As a result, a maternal plasma sample contains a mixture of placental and maternal circulating DNA.

The Discover™ NIPT test employs Next Generation Sequencing (NGS) technologies to count the number of fragments of the chromosomes to calculate this ratio, hence providing a risk of an affected pregnancy.

Key features of the test

• CE-IVD NIPT which allows local screening for pregnant women
• Results available in 3-5 days
• >99% detection and <1% false positive rate for trisomy 21, 18 and 13
• Low re-draw reate of < 0.5%
• Measures fetal fraction, requiring as little as  2%
• My NIPT® portal for safe and secure exchange or results
• The only NIPT with the option to incorporate the prior risk from the combined test

Discover™ PORT

Discover™ PORT is a data exchange portal that enables the exchange of patient results easily and securely between the laboratory and the clinician. Healthcare professionals can track the status of the submitted samples and communicate with the laboratory. High risk results are highlighted in the portal and a notification sent to alert you that a high risk result has occurred.

The portal also has the capability to monitor and track pregnancy outcomes, order stock and securely communicate with the laboratory.

Sample:

A maternal blood sample is taken from 10 weeks gestation. Massive Genomics recommends a 10ml blood sample either using Streck or EDTA-based whole blood collection tubes.

• If using Streck cell-free DNA BCT CE tubes, the blood is stable for up to 14 days if stored and transported at 6-37°C. The plasma can then be extracted on receipt at the MASSIVE GENOMICS laboratory.
• If the standard K2EDTA or EDTA KE tubes are used, the sample is stable for up to 8 hours at room temperature.

Who can have the NIPT test?

• All singleton and twin pregnancies
• Fertility assisted pregnancies including surrogates, donor or IVF pregnancies.
• Women who are at least 10 weeks pregnant.
•The Discover™ NIPT test should not be used for multiple pregnancies where there are more than two fetuses.
•The Discover™ NIPT test should not be used if the mother has cancer, has had a recent blood transfusion or where the mother is known to be chromosomal aneuploidy for trisomy 21.

Discover™ NIPT results

The Discover™ NIPT test incorporates the background risk into its algorithms to give the most accurate result possible. By default, this risk is the maternal age, however, results from the combined test can be included to further increase
accuracy.

Discover™ NIPT test results are exportable in common formats to enable further off-line local analysis and test performance monitoring. Reports can be customized to suit clinic requirements and include report translations in the
local language.

The Discover™ NIPT test report gives a clear, easy to interpret result of high risk or low risk for each trisomy. High risk results should be confirmed with a follow up diagnostic procedure.

Discover™ NIPT sample report

Benets of the Discover™ NIPT test

Due to its fast turnaround time and high detection rate, the Discover™ NIPT test can be an ideal companion in a contingent screening programme.

Enabling a higher overall detection rate while keeping the false positive rate low. For many women with an initial highrisk result from first trimester screening, this means they will not need to undergo a follow up invasive procedure such
as an amniocentesis which carries a small risk of miscarriage.

The Discover™ NIPT test is a regulated, CE-IVD screening test that enables clinical laboratories to offer NIPT testing locally with a rapid turnaround. This allows pregnant women and their families to receive the information they need to make an informed choice safely and quickly, reducing anxiety and giving peace of mind

Responsible Screening

Massive Genomics work closely with healthcare providers to ensure that all users of the Discover™ NIPT test are suffciently trained to offer the test to
pregnant mothers.

The complexity of prenatal screening, understanding when it is appropriate to offer the Discover™ NIPT test, and fitting it into to the existing care pathway is
often not so simple.

At Massive Genomics we work in close collaboration with our labs, hospitals and clinics to ensure the Discover™ NIPT test becomes an integral part of
prenatal screening. We can highlight best practice in terms of clinical
implementation and the importance of genetic counselling, before and after the test.