Non Invasive Prenatal Testing – NIPT
Accurate Downs syndrome testing – without the miscarriage risk
What is this test?
This is a newly available blood test to identify Downs (Trisomy 21), Edwards (18) & Patau (13) syndromes affecting a pregnancy. These are the conditions which are related to increased maternal age, and replace the need for screening blood tests and invasive testing (CVS or Amniocentesis) in the vast majority of cases.
How does the test work?
The test takes two 10ml samples of maternal blood and the laboratory uses genetic tests to identify the free fetal DNA which is outside the fetal and maternal cells. The test looks at the amount of DNA from the chromosomes concerned, and can tell whether there are 2 (normal) or 3 copies (trisomy).
At what stage of pregnancy can I have it done?
It can be done from 10 weeks gestation, which is assessed at the time of the blood test by ultrasound scanning. The baby’s length measurement (CRL) needs to be 32mm at the time the blood is taken.
Is it suitable for everyone?
No but the only exceptions are twin pregnancies and donor eggs pregnancies.
How much does it cost?
The cost is £550 to include the dating/viability scan at 10 weeks.
Who does the test?
The clinicians at the Practice will undertake the blood test and the scan for you, and the staff in the practice and laboratory will work together to make the result accurate, explain it to you and to send reports out to you.
Does it always work?
No. The laboratory are currently quoting a 3 to 5% failure rate, but in those cases the blood test can be repeated and therefore overall there are only about 1 in 750 couples who will not get an answer after 2 blood samples. We would offer a full refund if there were no result possible, but not if the result required a second or even third test to be done.
Is the test available in the NHS?
No. The cost of the test makes it unlikely that it will be introduced in the NHS in the near future.
Do I need ultrasound scans as well?
Yes. You need a dating / viability scan to ensure the pregnancy is on-going and that you are at least 10 weeks pregnant. We also strongly advise a detailed scan at 13 – 14 weeks and again at 18 – 22 weeks. We can do all of these scans for you to the highest possible standards privately.
When is my result available?
The result is available in 10 to 14 days after the blood test is taken.
Can it tell me the sex of the baby?
No. A scan after 16 weeks can tell you the sex of your baby.
Does it tell me if the baby has any other problems?
No – This test is designed to identify Down syndrome with accuracy. Other structural problems (ie spina bifida, heart, brain or kidney problems) may be diagnosed by ultrasound scanning.
How will I get my results?
The result will be telephoned to you and then e-mailed so that you have both an immediate and a written report.
What is involved?
The doctors and staff in the Practice will complete the screening process for you. You will have a scan to confirm viability and a simple blood test.
Do I still need a CVS or amniocentesis if the blood test shows the pregnancy is affected?
Yes – Licensing issues mean that the laboratory cannot give a categorical 100% result. For the foreseeable future they recommend an invasive test (CVS or Amniocentesis) is done to confirm their findings. This is a failsafe for all concerned and is the responsibility of all the professional staff involved to ensure that the test is fully supervised and audited during the introductory stages. If the need should arise we would either undertake the invasive test privately or refer you into the NHS system prior to any further actions being taken.
What are my options if my baby has Downs syndrome?
The big decision that you will have to make is whether to continue with the pregnancy or opt for a termination of the pregnancy. Almost all maternity units in the UK would offer a termination for this reason. Some doctors and midwives might not agree with that course of action but they should always be able to refer to other colleagues who are able to support a safe termination of the pregnancy. Many couples need much more information about Downs syndrome before they make their decision. This can be with a fetal medicine, neonatal, paediatric or genetic specialist. Sometimes they will be helped to decide by having a detailed structural scan of the baby which we can provide here alongside