What is the NIPT?
Non-invasive prenatal testing (NIPT) analyses cell free DNA in maternal blood and gives a strong indication of whether the baby is at high or low chance of having trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) or trisomy 13 (Patau syndrome).
- The test identifies 99%, but not all, of the babies with trisomy 21, 98% of babies with trisomy 18 and 90% of babies with trisomy 13.
- If you decide to have the test you will be asked to sign a consent form by one of our doctors or an appropriately trained member of our staff. We will then draw a small amount of blood from a vein in your arm. This may cause some discomfort but the sample is usually taken very quickly. Sometimes there can be some bruising after a blood sample is taken.
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When do I expect to get the NIPT results?
- The results from the test will generally be available within 4 business days and we will notify you as soon as we receive them by phone and email/letter.
- In about 2% of cases the test does not give a result. This is due to technical problems with the analysis of the sample and does not suggest that there is a problem with the baby. If you want you can have the test repeated (at no cost) and there is a 65% chance that the test will give a result.
What would the NIPT results show?
- If the NIPT shows that there is a high chance that the baby has trisomy 21 or 18 or 13 it does not mean that the baby definitely has one of these conditions. If you want to be certain if the baby has one of these conditions you should have CVS or amnio.
- If the NIPT shows that there is a low chance (less than 1 in 10,000) that the baby has trisomy 21 or 18 or 13 it is unlikely that the baby has one of these conditions.
Do I need to have any other tests?
- The NIPT does not provide information on other rare chromosomal abnormalities. If the scan at 11-13 weeks shows a high nuchal translucency (more than 3.5 mm) or major defects, such as exomphalos, holoprosencephaly, heart abnormalities or megacysis, the chance for some rare chromosomal conditions may be high. In such cases you may choose to have CVS or amnio.
- The NIPT does not provide information on physical defects, such as heart or brain abnormalities and spina bifida, or fetal growth. It is therefore advisable that you still have ultrasound scans at 11-13 weeks and at 20-22 weeks to examine the fetal anatomy and at 30-32 weeks to examine the fetal growth.
What is the cost of the NIPT?
- If your pregnancy is less than 11+4 weeks you can have a viability scan and NIPT from 10 weeks at a total cost of £400.
- If your pregnancy is 11+4 weeks or more you can have a nuchal scan (11+4 -13+6 weeks), or a mini-anomaly scan (14-19 weeks), or an anomaly scan (19-24 weeks) or a wellbeing scan along with a NIPT on the same appointment for a total cost of £500.
Who carries out the analysis of your blood for the NIPT?
We will send your blood sample along with your personal information (including name, date of birth, gestational age) to a company called TDL Genetics, which is based in London, United Kingdom. The laboratory will extract cell-free DNA from your blood and carry out the NIPT on the cell-free DNA.
There will be no further clinical testing on this blood and your blood sample will be discarded once we have confirmed the results with you. Your blood sample or the extracted DNA samples will not be used for any other purpose.