Nipt Restuls Taking a Long Time Baby Center
NIPT National Evaluative Roll-Out
We are pleased to inform patients that from ist June 2021 , not-invasive prenatal testing (NIPT) will be offered inside the national screening pathway for Down's syndrome, Edwards' syndrome and Patau's syndrome.
The SAFE test will be provisioning a service for many (just not inclusive of all) NHS trusts across Yorkshire and Humberside, South London and Southward England every bit part of the national roll-out of NIPT.
The offer of NIPT will only be to women who accept had a combined or quadruple test on or after the 1st June 2021. For more data and so please speak to your local antenatal screening team.
Please refer to Screening tests for you and your babe for more information on NIPT within the national screening pathway. If you have received a higher gamble combined or quadruple test results delight refer to your choices later a college chance screening event.
For patients accessing the Safety test outside of this national pathway please continue to access the information available on this website.
What is NIPT?
Non-Invasive Prenatal Testing (NIPT) is a blood test taken from the mother in pregnancy, that uses cutting edge DNA technology to evaluate whether a baby has a high chance of a certain chromosomal status.
What is the Safety test?
The St George'southward Antenatal Fetal Evaluation (SAFE) test is a NIPT exam is a screening test for Down's, Edwards' and Patau's syndromes only, in line with UK National Screening Committee (UKNSC) recommendations. The test is performed by taking a pocket-sized sample of the mother'due south blood. which is then sent to the NHS laboratory at St George's Hospital for cess. The results are typically available within seven calendar days from sample receipt.
How does the SAFE test work?
During pregnancy the placenta sheds cell free DNA (cfDNA) into the mother's bloodstream. As a result, the mother's blood contains a mixture of placental and maternal cfDNA. By evaluating the cfDNA in the blood and combining this with the mother's groundwork run a risk of a trisomy (mother'due south age or the combined examination results offered within the NHS), a likelihood ratio is obtained to predict whether or non the babe is more than likely to have a chromosomal status such as Down syndrome.
Why have the Prophylactic examination?
Equally part of the national screening pathway women are offered the 'combined exam' in the starting time trimester of pregnancy. This evaluates hormonal blood levels with ultrasound findings to assess the chance of chromosomal or structural anomalies. Although the range of conditions that can be detected past this method is broader than the number of conditions identified by the SAFE examination, the SAFE test has a higher detection rate for Down'south, Patau's and Edward's syndrome.
In addition if the 'combined test' result is available, the Rubber test is able to incorporate this to provide a more than individualised consequence.
What is Down syndrome?
People with Downwards's syndrome (or Trisomy 21) have an extra re-create of chromosome 21 (three chromosome copies rather than the usual two). Effectually ane in every 1000 babies born in the Uk will have Down's syndrome and there are over 40,000 people in the United kingdom of great britain and northern ireland with the condition. Anyone can have a baby with Down syndrome, although the take chances increases for older mothers, most babies with Down's syndrome are built-in to younger women.
Downward'southward syndrome is a life-long condition typically associated with some level of learning disability. Some health conditions are more common in people with Downwardly'southward syndrome, although most medical issues can be treated. Downs' syndrome is extremely variable and it is impossible to know what life volition be similar for you and your baby. Some children and adults will need long term support, notwithstanding many young people attend mainstream schools and live adequately independent lives with varying degrees of assistance.
Tin can the SAFE test screen for all conditions?
No-Downward's syndrome is the most mutual condition looked for besides as two rarer and weather known as Edwards' syndrome (trisomy eighteen) and Patau'south syndrome (trisomy 13).
What are Edwards' and Patau's syndrome?
Edwards' and Patau's syndromes are life limiting weather and will crusade a wide variety of developmental and health difficulties, some of which can be very serious. Effectually 70% of pregnancies affected by Edwards' and Patau'south syndrome will terminate in miscarriage or stillbirth. Partial forms of Edwards' and Patau'southward syndrome have a lesser affect upon the child.
Who can accept the SAFE test?
The test is suitable from ten weeks of pregnancy for all single and identical twins pregnancies, including IVF, egg donor or surrogate pregnancies. For non-identical and vanishing twin, test sensitivity is reduced.
The test is not suitable for multiple pregnancies (greater than twins), if the mother has cancer, a chromosomal or genetic condition (including Down syndrome). Information technology is also unsuitable for mothers who have undergone a blood transfusion in the last iv months, had transplant surgery, immunotherapy or stalk cell therapy.
Clinical Performance
| Clinical operation of the SAFE/IONA®examination | ||||
|---|---|---|---|---|
| Sensitivity | Specificity | Positive Predictive Value (PPV) | Negative Predictive Value (NPV) | |
| Trisomy 21 | >99% | >99% | >99% | >99% |
| Trisomy 18 | 98.3% | >99% | 96.seven% | >99% |
| Trisomy 13 | >99% | >99% | >99% | >99% |
| These statistics are based on post-market surveillance of the IONA® Nx examination in 9,575 singleton and monochorionic twin pregnancies, from a population of women who are predominantly at a higher take chances of having a infant with a trisomy such as Down's syndrome. Right every bit of 11th June 2021. PPVs and NPVs are specific to the population and vary by prevalence of trisomy in the population being tested. For example, PPVs would be expected to be lower if IONA® Nx is tested in a population of women who are predominantly at a lower chance of having a baby with a trisomy such as Down's syndrome. | ||||
The SAFE test uses the IONA® Nx workflow supplied by Yourgene Health. For information on current clinical performance, visit www.yourgene-health.com/nipt/iona-nx/for-clinical-laboratories/clinical-performance
Note: The SAFE test only offers screening for Trisomy 21, 18 and 13 therefore whatsoever other statistics shown on the Yourgene website do non apply to the SAFE test.
DEFINITIONS:
Sensitivity – the proportion of people/babies confirmed to have a condition that is reported as higher risk from an NIPT screening examination
Specificity – the proportion of people/babies confirmed not to have a conditionthat is reported as lower chance from an NIPT screening test
Detection rate – the proportion of truly affected pregnancies that are reported as high hazard.
Positive predictive value (PPV)– this is the number of truly positive cases that have been identified out of all the cases that have been reported every bit screen positive/high chance.
Negative predictive value (NPV) – this is the number of truly negative cases that take been identified out of all the cases that have been reported equally screen negative/low hazard
How is the Safety test reported?
Low gamble: means that information technology is very unlikely that your pregnancy is affected past trisomy 21, 18 or 13, and therefore very unlikely that your babe has Down's, Edwards' or Patau's syndrome.
High chance: means that in that location is an increased hazard that your baby volition have trisomy 21, eighteen or 13 and that the consequence should be confirmed by an invasive diagnostic test.
No call result: in a very pocket-size number of cases (ane in 200) tests may not yield a consequence for a variety of reasons. In this instance the clinical team volition discuss your bachelor options.
What happens if I go a "loftier run a risk" outcome?
If the Condom test result shows a high adventure of a chromosomal condition you will be offered an invasive diagnostic test such every bit amniocentesis or chorionic villus sampling (CVS). These tests give a definite 'yes' or 'no' outcome as to whether your babe has Down'south, Edwards' or Patau'due south syndrome. Both procedures involve using a fine needle to collect either a small sample of the amniotic fluid that surrounds the infant (amniocentesis) or a small sample of cells from the placenta (CVS).Although these invasive procedures give a definitive diagnosis they do carry a pocket-size adventure of miscarriage. The chance of miscarriage is oftentimes a dilemma for parents, with many women opting to take NIPT, such every bit the Rubber test before proceeding to an invasive procedure.
Information technology is important to call up that NIPT is a screening test which means that occasionally false positive and false negative results exercise occur. Information technology is a skillful idea to consider the need to be sure about the diagnosis compared to the chance of miscarriage associated with the invasive process. Some women, who would go along their pregnancy anyway, may be happy to continue without invasive testing. An invasive test would exist needed to confirm the Safe test consequence for those considering termination of pregnancy.
Your midwife and/or obstetrician volition be on paw to reply any questions you may have and to back up you through this time.
Who can I contact for further information?
If you take any questions nearly the SAFE examination, please contact your named midwife or consultant obstetrician. To contact directly, please e-mail: theSAFEtest@nhs.internet
Other useful organisations
NHS website
Down syndrome Association
Tel: 020 8682 4001
Positive well-nigh Down's syndrome
Tel: 07814 929306
Support Organisation for Trisomy 13/eighteen (SOFT) UK
Tel: 03300881384
Antenatal Results and Choices (ARC)
Tel: 020 7631 0285
Nearly St George's University Hospitals NHS Foundation Trust
The maternity unit of measurement at St George's University Hospitals NHS Foundation Trust is a regional and tertiary referral unit ranking 1 of the safest in the state. Delivering over v,000 babies each year, the unit of measurement has achieved exceptional clinical outcomes, the highest possible external accreditation and boasts the highest 'midwife: birth' ratios in London. The unit has consultant and midwifery led maternity care and state of the art equipment, including neonatal intensive care and a special care baby unit.
The Fetal Medicine Unit at St George's Infirmary is a leading 3rd referral centre and research centre located within a purpose built unit. Information technology houses state of the art facilities for all aspects of care from routine assessment upward to invasive procedures, including fetal surgery (surgery in the womb). The unit routinely accepts referrals from the x commune general hospitals in the south-west London region including approximately 35,000 women a year for antenatal care. Extra-regional referrals are also received for complex fetal surgical procedures and maternal care from other hospitals in the UK and Europe. The unit of measurement has recognised international expertise in the clinical and supportive direction of high-adventure care in pregnancy.
The Prophylactic exam is a CE-marked in vitro diagnostic test from Yourgene Wellness plc (The IONA® exam). Yourgene Health plc is a UK based molecular diagnostics company working in partnership with St George's University NHS Hospitals Foundation Trust to create a UK Centre of Excellence in bringing the first regulated NIPT test to more pregnant women.
Source: https://www.stgeorges.nhs.uk/service/maternity-services/your-pregnancy/fetal-medicine-unit/the-safe-test/
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