Non-invasive prenatal testing (NIPT)
The Clinical Pathology department at Nottingham University Hospitals NHS Trust has run a successful antenatal screening service for Nottinghamshire, Lincolnshire and Sherwood Forest for over twenty-five years.
The laboratory is fully UKAS accredited (Number 8848) and is compliant with the NHS Fetal Anomaly Screening Programme Service Specification No. 17 and the NHS Fetal Anomaly Screening Programme Handbook. The laboratory participates in external quality assurance and DQASS quality schemes.
The laboratory has a dedicated team of experienced clinical scientists who are fully trained and competency assessed. Laboratory representatives attend all national Fetal Anomaly Screening Programme and Down’s Quality Assurance Support Service (DQASS)
The laboratory has utilised PerkinElmer equipment for over twenty years and was one of the first to adopt the Vanadis technology for NIPT screening.
What is NIPT and what does it screen for?
Non-Invasive Prenatal Testing (NIPT) is a screening test that looks at the baby’s DNA in the mother’s bloodstream to identify if the baby is affected by certain chromosomal abnormalities. It is a very accurate test which only requires a small blood sample taken from the mother.
Is the Vanadis NIPT test safe?
The test requires a blood sample taken from the mother’s arm and carries no risk to the mother or baby.
Which chromosomal abnormalities will NIPT detect?
The Vanadis NIPT test is a targeted test which will identify if the baby has a chance of being affected by Down’s, Edwards’ and Patau’s Syndromes. The test will not screen for all possible chromosomal conditions.
Is the Vanadis NIPT test able to determine the sex of my baby?
The test can determine the sex of your baby with 99.6% sensitivity. As fetal sex determination test option does not have a medical purpose, it does not meet the definition of an in vitro diagnostic device.
How accurate is the Vanadis NIPT test?
The traditional serum screening test consists of a blood test and an ultrasound scan. This test is less sensitive than NIPT as it only detects 86% of babies with Down’s Syndrome and 80% of babies with Edwards’ and Patau’s Syndromes.
What are Down’s, Edwards’ and Patau’s Syndromes?
Down’s Syndrome is a genetic condition caused by an individual having an additional copy of chromosome 21 (three copies of chromosome 21 are present instead of two). It is the most common chromosomal condition seen in children and adults. Down’s Syndrome is characterised by learning difficulties but can also be associated with an increased chance of other medical conditions. As it is a variable condition it is not possible to know how affected a baby will be as some adults are able to lead a fairly independent life although many need continued support.
Edwards’ and Patau’s Syndromes are very rare conditions. Edwards’ Syndrome is caused by an individual having an additional copy of chromosome 18 and Patau’s Syndrome is caused by an individual having an additional copy of chromosome 13. Both conditions are life-limiting and many affected babies die during pregnancy or shortly after birth.
Trisomy 21 (Down’s Syndrome)
- Down’s Syndrome is a genetic condition caused by the presence of three copies of chromosome 21 (instead of the usual two copies)
- Down’s Syndrome is the most common chromosomal disorder at birth
- For every 1,000 births there will be one baby born with Down’s Syndrome
- The incidence of Down’s Syndrome increases with increasing maternal age
- People with Down’s Syndrome have learning difficulties and can also have other medical conditions including heart defects, hearing impairments, thyroid disorders and musculoskeletal problems. There is a wide spectrum of clinical presentations and some people will be more seriously affected than others. Although some children and adults will require life-long support, many can lead independent lives with assistance. The associated medical conditions can be treated.
- The average life expectancy for a person with Down’s Syndrome is 50-60 years
Further information can be found from the Down’s Syndrome Association here:
Tel: 0333 1212 300 (Open Monday to Friday 10am – 4pm)
Trisomy 18 (Edwards’ Syndrome)
- Edwards’ Syndrome is a genetic condition caused by the presence of three copies of chromosome 18 (instead of the usual two copies)
- For every 7,000 births there will be one baby born with Trisomy 18
- Edwards’ Syndrome is a life-limiting condition.
- 5-8% of babies affected with Edwards’ Syndrome survive beyond 1 year without extraordinary medical intervention. With medical intervention the survival rates have increased. The largest Trisomy 18/13 survival study in the USA reported a Trisomy 18 survival rate of 13.5% at 1 year of age and 12.3% at 5 years of age.
- Children with Edwards’ Syndrome have birth defects including heart defects, musculoskeletal defects, hearing loss and cleft palate/lip. Common illnesses associated with Edwards’ Syndrome include feeding difficulties, poor growth, seizures, developmental disorders, chronic constipation, frequent pneumonia and curvature of the spine.
- Supportive treatment is available for the condition
Further information can be found from the Support Organisation for Trisomy 13/18 (SOFT) here: www.soft.org.uk
Trisomy 13 (Patau’s Syndrome)
- Patau’s Syndrome is a genetic condition caused by the presence of three copies of chromosome 13 (instead of the usual two copies)
- For every 10,000-25,000 births there will be one baby born with Trisomy 13
- Patau’s Syndrome is a life-limiting condition.
- 5-8% of babies affected with Patau’s Syndrome survive beyond 1 year without extraordinary medical intervention. With medical intervention the survival rates have increased. The largest Trisomy 18/13 survival study in the USA reported a Trisomy 18 survival rate of 13.5% at 1 year of age and 12.3% at 5 years of age.
- Children with Patau’s Syndrome have birth defects including a small head size, small eyes, cleft palate/lip, brain malformations and kidney defects. 80% of children with Patau’s Syndrome have heart defects and may also be affected with developmental and motor disabilities, interrupted breathing (apnoea) events, feeding difficulties and seizures.
- Supportive treatment is available.
Further information can be found from the Support Organisation for Trisomy 13/18 (SOFT) here: www.soft.org.uk
Who can have the NIPT test?
The test is available to all women from 10 weeks of pregnancy for all single, twin and IVF pregnancies. The NIPT test is not suitable if you have cancer or chromosomal abnormalities including Trisomy 13, 18 and 21, if you have received an organ transplant or received stem cell therapy or immunotherapy within the last 12 months, if you have had a blood transfusion within the last 3 months or if you have a multiple pregnancy greater than twins.
How long will the test take and how are results received?
Test results are typically available within ten days of sample receipt. Reports are issued by the laboratory and sent via E-mail. Written reports are additionally sent by First Class Post using the postal address provided on the request form. Additional reports can be sent directly to midwives/clinical professionals upon provision of full postal addresses and/or nhs.net E-mail addresses.
How are results reported?
Low chance: this means that it is very unlikely that the baby is affected by Down’s, Edwards’ or Patau’s Syndrome.
Increased chance: this means that there is an increased chance that your baby is affected by Down’s, Edwards’ or Patau’s Syndrome. All high chance results should be discussed with your midwife and confirmed by an invasive diagnostic test which could be chorionic villus sampling (CVS) or amniocentesis. Confirmation is required as in a very small number of cases the DNA from the placenta may not represent the DNA of the baby.
Failed test: this means that a result has not been able to be produced. In a very small number of cases it is possible that there is not enough baby’s DNA in the mother’s blood to produce a result.
Inconclusive result: this means that the result is not clear and a result cannot be produced. This is unlikely to occur.
What happens if the NIPT test is unable to produce a result?
Two 10 mL samples of blood will be collected for each NIPT test. If a test produces a “failed or inconclusive result”, the second sample will be tested at no additional cost. If the second test does not produce a result another blood sample will be required. In these cases you must rebook a second test and further payment will be required.
What happens if the NIPT test result is “Increased chance”?
If the test result is high chance you should discuss your results with your midwife. You will be offered an invasive diagnostic test which could be chorionic villus sampling (CVS) or amniocentesis to provide a definitive result and confirm your NIPT test. Your midwife will be able to support you so that an informed decision can be made.
Nottingham University Hospitals NHS Trust provides the Vanadis NIPT test for £310 per test.
The prices of the test includes:
- NIPT testing kit comprising of two blood collection tubes, instructions for blood collection, a request form and pre-addressed packaging for return of blood samples
- NIPT screening test for detection of Trisomy 21 (Down’s Syndrome), Trisomy 18 (Edward’s Syndrome) and Trisomy 13 (Patau’s Syndrome)
- Fetal sex determination (optional at no additional cost)
- Full NIPT report posted to address supplied when booking NIPT test
In the event of a “Failed Test” the second blood sample will be tested at no additional cost to provide maximum possibility for NIPT result.
Book a NIPT Test
Use the NIPT Booking and Payment Portal
The Clinical Pathology Team will contact you on the next working day to confirm your order and to determine if you would prefer to:
- receive your NIPT Testing Kit by post for your blood sample to be collected by your midwife/GP.
- attend the Outpatients Phlebotomy department at either Nottingham City or QMC hospital sites in which case a laboratory representative will meet you with your NIPT testing kit and your blood sample will be taken at the hospital.
- Blood samples will be sent directly to the laboratory if using Nottingham University Hospitals Phlebotomy services. If sample has been collected outside Nottingham University Hospitals, return blood samples with fully completed request form in the pre-addressed packaging provided.
Phone the booking line
Phone the private Patient Booking line on 07812 275822.
- The telephone line is open Monday-Thursday 7:30am – 4pm and on Friday from 7:30am – 12pm.
To contact the laboratory team please email: email@example.com
Further Recommended Resources
Antenatal Results and Choices (ARC):
National charity offering non-directive information and support to parent before, during and after antenatal screening. www.arc-uk.org
Helpline: 0845 077 2290 or 0207 713 7486
(Open Monday to Friday 10am – 5.30pm)
Down’s Syndrome Association
0333 1212 300 (Open Monday to Friday 10am – 4pm)
Support Organisation for Trisomy 13/18 (SOFT)