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Non-Invasive Prenatal Testing for trisomies 21, 18 and 13 (NIPT) The prenatal trisomy screening test based on a simple maternal blood sample DS29-INTGB-HP - August 2017 Brochure for healthcare professionals

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Page 1: Non-Invasive Prenatal Testing for trisomies ... - Ninalia NIPT · Non-Invasive Prenatal Testing for trisomies 21, 18 and 13 ... (ACOG) and the Society for ... Ninalia NIPT is a screening

Non-Invasive Prenatal Testing for trisomies 21, 18 and 13 (NIPT)The prenatal trisomy screening test based on a simple maternal blood sample

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Brochure for healthcare professionals

Page 2: Non-Invasive Prenatal Testing for trisomies ... - Ninalia NIPT · Non-Invasive Prenatal Testing for trisomies 21, 18 and 13 ... (ACOG) and the Society for ... Ninalia NIPT is a screening

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What is the Ninalia screening test?

Ninalia Non-Invasive Prenatal Testing (NIPT) is an innovative genetic screening test that detects the main fœtal aneuploidies i.e. trisomy 21, 18 or 13 in pregnant women at risk from these pathologies.

The non-invasive screening test uses cell-free DNA from a maternal blood sample, ensuing no risk to the fœtus.

In many cases, NIPT eliminates the need for invasive sampling, thus reducing the associated risk to the foetus.*

* Non-invasive prenatal testing of trisomies 21, 18 and 13 could make 95% of invasive tests, (with an associated risk of miscarriage of around 0.5 to 1%), redundant (source: French National College of Gynaecologists and Obstetricians (CNGOF))

What is cell-free DNA?During pregnancy, the placenta releases cell-free DNA which circulates in the maternal blood stream.

As a result, maternal blood contains a mix of fœtal and maternal DNA in varying proportion. This proportion is the fœtal fraction.

Our laboratory isolates this circulating DNA in order to detect the presence of genetic material relating to chromosomes 21, 18 or 13.

If the fetal fraction is too low, a new sample may be required for analysis.

What is the technology used?Since october 2014, Eurofins Biomnis has chosen to collaborate with the company Illumina, a world leader in DNA sequencing, for non-invasive screening for the main chromosomal abnormalities.

The new VeriSeq NIPT method offers improved performances in order to enhance patient care.

Cell-free maternal DNA Cell-free fœtal DNA

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Ninalia performance An excellent detection rate of Ninalia : 99%

Extremely low failure rate: 0.68%*

Short turnaround time: 5 business days A complete marked solution

Who should avail of the Ninalia screening test?Eurofins Biomnis follows the International recommendations of the American Congress of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) in relation to the indications for non-invasive prenatal screening for patients with a greater risk.

MAIN RECOMMENDATIONS(absence of ultrasound abnormalities)

Risk greater than 1/1000 according to maternal serum markers

Mothers aged ≥ 38 years for patients that did not benefit from the maternal serum markers

assay

History of pregnancy with foetal aneuploidies

Relative is carrier of a Robertsonian translocation involving chromosome 13 or 21

Twin pregnancy

1st line screening

*Data from the supplier Illumina, February 2017.

Down syndrome

99%*

99,9%*

Sensitivity

Specificity

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Diagnostic strategy for T21

From 10 weeksof pregnancy 1 single blood draw

Shipment to Eurofins Biomnis France

Results sent to healthcare prescriber within 5 business days*

Sample collection by the healthcare provider

Analysis of the mainfœtal aneuploidies:trisomies 21, 18 and 13

Eurofins Biomnis’ geneticists are available to advisehealthcare provider, if required

Medical consultationand Ninaliaprescription

Negative resultPositive result

Confirmation of the diagnosis by fœtal karyotype testing on an invasive sample

Conventional medical and

ultrasound follow-up

Absence of ultrasound abnormalities

Non-invasive prenatal screening for Down syndrome, Edwards' syndrome and Patau syndrome

High risk Medium risk Other cases

Combined screening for Down syndromeUltrasound and Maternal Serum Markers

Step by step guide to Ninalia

What does Ninalia screen for?It screens for the main fetal aneuploidies i.e. trisomy 21, 18 and 13.

Depending on local regulation, the test also provides optional fœtal gender and sex chromosomes aneuploidies.

For any further information, please contact Eurofins Biomnis International Division at :

[email protected]

* For example, if the sample is received in Eurofins Biomnis on a Tuesday, the results will be sent to the healthcare provider the following Monday

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To know more about Ninalia and to order the sampling kit, please visit:

www.nipt-biomnis.com

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Eurofins BiomnisInternational Division17/19 av. Tony Garnier BP 7322 - 69357 LYON Cedex 07 FRANCE

E-mail: [email protected]

About Eurofins Biomnis Eurofins Biomnis, European leader in specialised medical pathology, has its origins in the laboratory established by Marcel Mérieux in 1897. Its primary focus is the performance of highly specialised analyses requiring the use of high-expertise test procedures.

Eurofins Biomnis is active in all fields of medical pathology, in particular fœtal biochemistry and prenatal diagnostics.

Geneticists, qualified in prenatal diagnosis and responsible for Eurofins Biomnis tests are available to prescribers to provide the best possible support in the implementation of this

genetic test.

Ninalia : at a glance NIPT stands for Non-Invasive Prenatal

Testing

Ninalia NIPT is a screening test for pregnant women at risk of trisomy 21, 18 and 13.

It is without risk to fœtus since this test requires a simple maternal blood draw collected by healthcare providers

Ninalia can be performed from 10 weeks of pregnancy

Results are sent to healthcare providers within 5 business days upon reception at Eurofins Biomnis

Highly accurate test with a detection rate of 99% and an extremely low failure rate

Over 15,000 Ninalia tests have been performed to date

Ninalia is NF EN ISO 15189 accredited*

The assurance of Eurofins Biomnis expertise. The laboratory is based in France and is the European leader in specialised medical pathology.

*Accreditation delivered by the Cofrac (N#8-1973 & N#8-1110, available on www.cofrac.fr) D

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