Down Syndrome Test

Starting from only £379 with results in 5 working days

With our simple 100% safe prenatal Down Syndrome Test, it is easy to find out if your baby is suffering from Down syndrome with no risks to the mother or baby. This non-invasive prenatal test (NIPT) gives you the opportunity to screen for Down syndrome from just 10 weeks into the pregnancy. All that is needed is a sample of the mother’s blood and, with this, it is possible to determine with an accuracy of 99 per cent whether your baby is affected by Down syndrome.

This test is available for singleton and twin pregnancies as well as egg donors.

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Confidential Down Syndrome Test at Home

Choosing to screen for Down syndrome is not always an easy decision. Using a test from a laboratory with a trusted track record of performing tests of this type will help to make the entire process easier. We work with Genesis Genetics whose Genesis Serenity test provides highly accurate results and also screens for Edwards syndrome and Patau syndrome. The testing can be carried out smoothly and without delay. With our efficient administration and processing, you will be updated immediately of all developments and you will have your test results as soon as possible.

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What is Down Syndrome?

Down Syndrome is a genetic disorder that is caused by the presence of a third copy of chromosome 21. Instead of having 46 chromosomes, someone with Down syndrome has 47. This additional chromosome can be part of a chromosome or an entire copy of that chromosome. The presence of this additional genetic coding can lead to many of the commonly seen characteristics of people with Down syndrome, and the conditions affecting them, such as congenital heart defects.

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How Does the Down Syndrome Test Work?

The Down Syndrome Test just requires a small 10ml blood sample from the pregnant woman. The blood sample can be taken by your own doctor or we can arrange for a nurse to visit you at your home if this is more convenient. Please Contact Us for details and a quote.

The Serenity prenatal test uses verifi® test technology developed by Illumina, the world largest DNA sequencing company. When the blood sample is analysed, it will indicate whether cell free foetal DNA is present, to confirm or dismiss the presence of Down syndrome. The foetal DNA in the mother’s blood will be examined to determine the foetal chromosome ratio. When a child has Down syndrome, additional genetic material will be present and in particular the occurrence of chromosome 21 will be higher, due to the extra full or partial copy.

It should be noted that this is a screening procedure. It is not a diagnostic test. However, although it does not totally replace more invasive diagnostic information gathering from chorionic villus sampling or amniocentesis, it can help expectant mothers avoid undergoing these procedures when it is not necessary.

Invasive procedures such as chorionic villus sampling and amniocentesis are often used to detect Down syndrome. Because they are invasive, there is a small element of risk, particularly with the needle that must be inserted to perform amniocentesis. If the result from our non-invasive test is positive, your healthcare practitioner may recommend diagnostic tests to be absolutely sure of the diagnosis. However, our test is so sensitive and so accurate, that if the results indicate a low to almost no probability of Down syndrome, then it is very unlikely that any further diagnostic testing will be required. Our prenatal, non-invasive procedure can be carried out by all expectant mothers including those expecting twins and egg donors.

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What Are the Chances of Bearing a Child with Down Syndrome?

The condition appears across all cultures, classes and ethnic groupings. It is not considered to be a hereditary condition, and only about 1% of Down syndrome births have any kind of hereditary element. Age is, however, a significant factor. Older mothers tend to have more Down syndrome births. A woman aged 35 has a likelihood of about one in some 350 of producing a child that has Down syndrome. When women reach 40 years of age, their risk of having a child with Down syndrome goes up to almost 1%.

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What Does the Genesis Serenity Down Syndrome Test Detect?

As well as detecting Down syndrome (trisomy 21) this screening procedure will determine the presence of Patau syndrome (trisomy 13) and Edwards syndrome (trisomy 18). In addition, this test can ascertain other pathologies as a result of chromosomal abnormalities – either extra or missing sex chromosomes, also known as chromosomes X and Y.

There is also an option available to screen for sex chromosomes at no extra cost:

  • Monosomy X (MX; Turner syndrome)
  • XXX (Triple X)
  • XXY (Klinefelter syndrome)
  • XYY (Jacobs syndrome)

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What Do My Serenity Test Results Mean?

Your test results will be sent to your healthcare provider and will state whether or not trisomies 21 (Down syndrome), 18 (Edwards syndrome) or 13 (Patau syndrome) are suspected in the pregnancy.

Your results will report one of three possible outcomes: No Aneuploidy Detected, Aneuploidy Detected, or Aneuploidy Suspected.

  • A No Aneuploidy Detected test result means that this test identified the expected number of copies of chromosomes reported.
  • An Aneuploidy Detected test result means that this test identified too many or too few copies of one of the chromosomes as seen on the report. This can indicate either a trisomy or a sex chromosome aneuploidy.
  • An Aneuploidy Suspected test result means that this test identified more copies than expected of the chromosomes reported. This means that your provider should follow up on this result to obtain more information.

In the event of one of the last two results your doctor will discuss what the results mean for you and your baby and will advise on further testing options.
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