Protecting your baby but giving you the answer you need
All parents want the best reassurance for their pregnancy and all want to protect their unborn baby as best they can.
If you are considering or have had screening for Chromosomal conditions including Down’s syndrome it is a reality that 1 in 30 women can be given a high risk result with the NHS combined screen. You may be advised that you should have an amniocentesis or chorionic villus biopsy (CVS) to assess your baby’s chromosome pattern. The possibility of miscarriage from this test is approximately 1%.
There is a NEW accurate alternative which is safe, simple and risk free.
Non-Invasive Prenatal Testing (NIPT) is available to all pregnant women to screen your pregnancy for the risk of being affected with the most common chromosomal conditions and as such carries no risk of miscarriage and thus risk free to your pregnancy.
Non-Invasive Prenatal Testing (NIPT) has the best detection rate of all screening tests. One meta-analysis has shown that the detection rate and false-positive rate for NIPT for screening for Down’s syndrome are 99% and 0.1% respectively (Gil et al., 2015)
It MUST be made clear that Non-Invasive Prenatal Testing (NIPT) is not classed as diagnostic test like amniocentesis or CVS but it will give you the reassurance to the highest degree possible that you are making the right choices should you need further testing.
About Non-Invasive Prenatal Testing (NIPT)
Non-Invasive Prenatal Testing (NIPT) is the most accurate screening test for Down’s Syndrome and other trisomy conditions. It is available to ALL women from 10 weeks+ gestation including multiple, IVF, self and non-self pregnancies.
From a simple sample of venous maternal blood taken form the mother’s arm and combined with an ultrasound scan to confirm pregnancy, NIPT technology detects free floating fetal DNA (cfDNA) in the mother’s bloodstream using next generation sequencing technology, coupled with advanced bioinformatics analysis.
NIPT will estimate the risk of your baby having a common chromosome condition called a trisomy. The most common trisomies are Trisomy 21 (Down’s Syndrome), Trisomy 18 (Edwards’ Syndrome) and Trisomy 13 (Patau’s Syndrome). The detection rate is more than 99% accurate.
In addition to screening for chromosomal trisomy conditions most NIPT screens will offer analysis of the X and Y sex chromosomes. In singleton pregnancies it will identify the possible gender of your baby. In twin pregnancies when using Genesis Serenity® it will check for the presence of the Y chromosome, this will tell you that at least one of the babies you are expecting is possibly male. Accuracy of gender determination using NIPT is >98% but is it always advised to have the gender checked at your 20 week ultrasound anatomy scan. The assessment of your baby’s gender or fetal sex is entirely optional.
Since NIPT can identify X & Y chromosomes most screens will offer you the option to screen for the risk of sex aneuploidy conditions including Turner’s (Monosomy X), Klinefelters (XXY), Triple-X (XXX) and Karyotype XXY. The screening for sex aneuploidy conditions is not common practice; it requires appropriate counselling and is an option.
With new advancements in screening testing for some micro-deletions abnormalities is possible. Again, this is optional and can incur an optional charge. Screening for these conditions is not common practice and again requires appropriate counselling. Read more.
NIPT Test Options
There are only a few recognised companies / laboratories in the world currently offering NIPT screening the common companies, origin and their NIPT tests are listed below:
- Ariosa : USA: Harmony™
- BGI Health : China: NIFTY™
- Genesis Genetics : UK : Serenity™ (powered by Verifi®)
- Illumina : USA: Verifi®
- Natera : USA: Panorama™
- Premaitha : UK : IONA®
- Sequenom : USA: MATERNIT21™ PLUS
Highlighted in BOLD are the tests we can offer you at this is my. Click onto the test to find out more about it.
At this is my we realise that everyone is an individual and as such should we offer you a number of NIPT screening options, those available through this is my ltd are high-lighted above in bold letters. We are happy for you to call us to discuss your options.
At this is my we want to be able to offer NIPT screening at an affordable price so more pregnant women have access to this NEW screening test.
Once you have decided which test is best for you we offer you the following options for your NIPT screen:
Blood Sample Only: We can send a NIPT kit out in the post to you to have the sample taken locally to you and you then simply return by Royal Mail Special Delivery.
Blood Sample Only taken at a this is my: Baby Centre: Simply book an appointment at your chosen this is my: location and we will have trained staff to take the sample and help you complete the consent / order form.
Blood Sample and Ultrasound Scan: Book your NIPT screen and ultrasound scan at one of this is my: locations and have a scan to confirm pregnancy, gestational age and if over 11+ weeks gestation appropriate first or second trimester fetal anatomy check including, Nuchal measurement, nose bone determination and ductus venosus blood flow for complete reassurance.
All NIPT screens need an ultrasound scan to confirm a viable pregnancy and the gestational age of your pregnancy. A simple venous maternal blood sample is taken.
The screen can be undertaken at any time from 10 weeks gestational age.
The NIPT test alone does not provide screening for conditions such as mosaicism, partial trisomy, translocations or triploidy (exception Natera’s Panorama™ screen).
If you are a known carrier of a translocation and you are aware of where the translocation occurs we may be able carry out further analyses for this. Please ask us if you have any uncertainties.
Your sample is sent to a specialist laboratory where the cfDNA analysis is performed. A signed request and consent is needed to take the sample and to approve transportation along with your personal data. Please be aware that the laws applicable to your personal data outside the UK are different from those operating within.
Testing of your blood sample is dependent on the amount of cfDNA circulating within it, sometimes there is not enough. In these cases the result can be delayed as further analysis is needed and in some cases another blood sample or redraw would be required.
Your result for NIPT screening will depend on the test you choose and can vary from 3 – 12 days after dispatch of you sample from our screening centre.
It should also be noted that all NIPT screens do not test for anatomical defects within your baby such as spina bifida, abdominal wall defects and other structural problems, these checks are ideally performed at 11+ weeks and at your 20 week anatomy scan.
If you are having your screen at one of this is my: centres and you are over 11+ weeks gestation in your pregnancy we will perform a first trimester anatomy check as part of your test.
Whatever your result, this is my: is there to support you.
Most women will come back with a ‘low risk’ result and therefore it is very unlikely that the baby has one of these conditions. However, there is a very small risk that not all trisomy fetuses will be detected.
A ‘high risk’ result is indicative of a very high chance your pregnancy being affected with a trisomy condition. Overall the test identifies more than 99% of T21, T18 and T13 pregnancies.
A positive or high risk result does not definitely mean your baby is affected, although it is very likely. If you receive a positive result, an amniocentesis or CVS is generally advised to confirm the result as this is still a screening test.
The number of women likely to receive a false-positive high-risk result is only 0.1%.
We interpret all results in the context of clinical and familial data and we recommend you continue with your usual scan appointments following testing.
Should the NIPT be returned as low-risk but the Nuchal+ Scan reveal a high-risk issue, then a rare chromosomal defect or other structural problems cannot be ruled out and you may then still wish to consider an amniocentesis or CVS.
NIPT testing alone does not provide information on physical defects, mosaicism, partial trisomy, translocations or triploidy and thus it is essential that a detailed ultrasound scan is undertaken for full evaluation purposes.
NIPT testing with any company is dependent on the amount of cfDNA circulating within it, sometimes there is not enough. In these cases the result can be delayed as further analysis is needed and in some cases another blood sample or redraw would be required.
Blood samples are usually dispatched the next working day after the sample draw.
If you have recently undergone a blood transfusion, transplant surgery, immunotherapy or stem cell therapy please speak with an advisor at this is my prior to the blood sample being taken.
Turnaround Time (TAT) is estimated when the sample reaches the laboratory in working days (NOT calendar days). It is estimated that 95% of sample will have a result within this time scale. When further sequencing is needed in order to obtain a result, TAT can be slightly longer.