NON-INVASIVE PRENATAL TEST
ABOUT
During pregnancy, fragments of the baby's DNA circulate in the mother's blood stream. By measuring the number of these DNA fragments, the number of chromosome 21, 18 and 13 copies can be determined. Thus, trisomy 21, 18 or 13 can be detected in the baby. The blood sample should be collected at a minimal gestational age of 11 weeks to ensure a sufficient amount of the baby’s DNA circulating in the mother’s blood.
The NIPT has a sensitivity of more than 99%, which means that more than 99 out of 100 babies with trisomy 21, 18 and 13 will be detected by this test, while 1 or fewer will be missed. For 1% the NIPT will lead to a false positive result. This means that when 100 women take the test, 1 of them will be told that there is an increased risk of trisomy 21, even though her baby does not have trisomy 21.
For more information about NIPT, please see our information leaflet in the download section or contact us.
METHODOLOGY
Maternal blood is collected in Streck Cell-Free DNA BCT tubes and cell free DNA (cfDNA) is isolated from the plasma fraction. The isolated cfDNA consists of both maternal as fetal DNA fragments.
The 3' and 5' overhangs of the cfDNA are blunt ended by resp. a 3' exonuclease and a DNA polymerase, followed by 5' adenylation (polynucleotide kinase) in order to generate a substrate for the adapter ligation.
Next, a PCR amplification step is performed to generate sufficient yield for Massive Parallel Sequencing (MPS). More information is available through the buttons below.
cfDNA extraction from maternal blood plasma
End repair + phosphorylation and adenylation
PCR amplification of the cfDNA library
cfDNA extraction from maternal blood plasma
INSTRUMENTS
The following devices are used for Whole Genome Sequencing (WGS) in our premises.
Illumina NovaSeq 6000
Our highest capacity short read sequencer. This device can generate reads up to 250 bp in length (on the SP flowcell) and generate up to 10B reads per flowcell (S4).
CERTIFICATES
141-MED (UZ Brussel)
DOWNLOADS
Aanvraagformulier NIPT - NL
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Brochure d'information TPNI - FR
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Informatiebrochure NIPT - NL
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Information leaflet NIPT - EN
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CONTACTS
BRIGHTcore general inquires
+32 (0)2 477 64 79 (sec)
UZ Brussel
BRIGHTcore
Laarbeeklaan 101
1090 Brussels
Secretariaat Medische Genetica
+32 (0)2 477 64 79 (sec)
UZ Brussel
Centrum Medische Genetica
Laarbeeklaan 101
1090 Brussels
SAMPLE TYPES
We aim to keep the list with sample types updated. However, if you believe we offer this test on other sample types, or if you have a very specific sample type you'd like to evaluate : please contact the corresponding persons for either diagnostic or research purposes.
Tissue | Recipient | Quantity | Transport | Purpose / Extract |
|---|---|---|---|---|
Blood | Streck Cell-Free DNA BCT | 9 ml | Room temperature | cfDNA/ctDNA |
Plasma | DNA LoBind 5 ml tube | > 2ml | Dry ice | cfDNA/ctDNA |
* Microtube can be a either a cryovial or eppendorf tube (0,5 ; 1,5 or 2 ml). Please consider the quality of the tube used (nuclease free ; free of RNA/DNA ; sterile ; LoBind) according to application needed.
DELIVERABLES
Below, you can find the type of data files that can be retrieved for this test.
If you require more information or need a more custom output, please consult our Bioinformatics page.
Deliverable | Description | Research or diagnostic |
|---|---|---|
Raw data - bam file | Binary data file containing the aligned reads | RUO (on request) |
Raw data - fastq file | Data file containing the raw (unaligned) reads | RUO (on request) |
Clinical report | Diagnostic report generated by Clinical Geneticist/ Pathologist / Hematologist | Diagnostic |
PLAN EXPERIMENT
1. For diagnostics
The NIPT is mainly performed as a diagnostic assay. In this case, please contact your General Practitioner, Gynecologist or Clinical Geneticist (Centre for Medical Genetics) to get the diagnosis started.
Be aware that the NIPT is in certain circumstances not advised. For more information on (counter-) indications, please consult the information leaflet.
2. For Research
Alternatively, the NIPT methodology can be applied for other applications in the realm of research, this e.g. to evaluate large chromosomal rearrangements (deletions/duplications) in context of :
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Tumor instability (ctDNA)
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Monitoring of cell cultures
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...
Get in touch (ONLY FOR NEW PROJECTS)
Explain your project, so we can assist you to find the best solution.
Expect questions like :
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What type of sample would you like to analyze?
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Will you handle the DNA extraction (if so, which elution buffer/expected concentrations)?
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How many samples would you like to process?
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How fast do you need the results (TAT) and/or do we need to expedite?
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If you deviate from our sample types, are there test samples available?
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Do you require bioinformatics support or are our standard deliverables ok?
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...
1
Request quotation
Once you know which experiment you want to set up, fill out the 'Quote request' form, with the essential details of your project :
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Coordinates of the person to whom to address the quotation
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Which type of test you'd like to set up
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Will you extract/provide the DNA, or do we need to perform the extraction?
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Do you require bioinformatics support?
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Do we need to expedite (comes at extra cost)?
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...
2
Submit your samples
Once you agree with our terms (quote / TAT / terms & conditions) :
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Fill out our sample submission form
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Send it via email : contact us
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Print out the form and include it with your samples
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Send your samples to us
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Adhere to the corresponding transport conditions listed under Sample types
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Label your tubes/plates correctly : see details here
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Indicate if we can discard your samples after completion of project
3
Your experiment starts
Now it is up to us... We will start your experiment as soon as possible. When expedited, we will start the experiment within 1 week. For standard requests the turn-around-time (TAT) varies :
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In diagnostics : 5 workdays
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In research : 2 months (or otherwise agreed)
The research TAT is generally overestimated, but this extended timeframe allows us to : combine similar requests of multiple scientists and to repeat the experiment in case of issues.
Please refrain from contacting us in case the pre-agreed TAT didn't expire yet.
