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NIPT Non-Invasive

PrenatalTesting

Extended test

NIPT

It can be performed from the 10th week of pregnancy, and is a blood test which does not pose any risk to the pregnancy. The test starts with an ultrasound scan to confirm the dates of the pregnancy and presence of a foetal heartbeat.

NIPT ExtendedCRGH is pleased to offer this new test on request, however we recommend that you read the information carefully before deciding to have this test.

Extended NIPT is similar to the Basic NIPT test, but can detect rare trisomies (3rd copies of a chromosome) for all chromosomes, rather than just the common ones included in the Basic test. The test can be done from 10 weeks pregnancy, and is a blood test which does not pose any risk to the pregnancy. The test starts with an ultrasound scan to confirm the dates of the pregnancy and presence of a foetal heartbeat.

This test is primarily intended for use when there is already a suspicion of a problem with the pregnancy, such as abnormalities found on a scan.

As for the Basic NIPT test, your blood sample is sent off for analysis of DNA fragments from the pregnancy that are floating in your blood. These fragments can be identified according to which ‘chromosome’ (DNA string) they belong to, and how many copies of each chromosome are present in the pregnancy. There should be two copies of each chromosome in the pregnancy. The test is intended to identify if there is a 3rd copy of any chromosome in the pregnancy.

This test detects >99% of cases of Down syndrome (Trisomy 21) and the majority of cases of Trisomy 13 (Patau syndrome) and Trisomy 18 (Edward syndrome).

At CRGH we are pleased to be able to offer you the

most accurate form of Down syndrome screening, in the form of

the Non-Invasive Prenatal Test (NIPT).

Unlike the Basic NIPT test, the extended test does not report if there is an abnormality in the number of X and Y chromosomes eg. Turner syndrome (a single X chromosome), or Klinefelter syndrome (XXY).

The extended test will report if any other rare trisomies (3rd copies) are detected for any other chromosome (chromosomes 1 – 22). Please be aware that aside from trisomies of chromosomes 13,18, 21, any other trisomy is likely to be an early indicator of an impending miscarriage.

The accuracy of the test for chromosomes 1-22 is lower than for the common trisomies. If a rare trisomy is found, there is a small chance that it is only present in some cells of the pregnancy (not all), but this cannot be determined by the NIPT test. All abnormal results must be confirmed by an amniocentesis test.

If any other changes are found in the quantity of DNA on the test ie. a small deletion of a relevant section of a chromosome, these may be reported. This could have implications for the health of the pregnancy or the mother. Accuracy of these results is lower than for whole chromosome analysis.

There is a small chance of having a baby with a chromosome abnormality, despite a normal result on this test. There is also a chance that after receiving an abnormal result on this test, an amniocentesis test will show a normal result (a false positive NIPT result).

Abnormalities in individual genes are not detectable. If you have a personal or family history of a specific genetic condition, please book a consultation with our Genetic Counsellor before proceeding with any tests.

Results take 10 working days.

CRGH is a one minute walk from Great Portland Street underground station.

230 - 232 Great Portland StreetLondon W1W 5QS

IGENOMIX is a company providing advanced services in reproductive genetics.

www.igenomix.co.uk

The UK charity ARC (Antenatal Results and Choices) can be contacted on 0845 077 2290 or 0207 713 7486 via mobile and are able to provide further support to parents before, during and after antenatal screening.

www.arc-uk.org

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Contact Us: For more information about NIPT at CRGH, please contact: Reception: +44 (0)20 7837 2905 (Mon-Fri 8.30am-6pm)or email: info@crgh.co.uk

www.crgh.co.uk

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© Copyright The Centre for Reproductive & Genetic Health January 2019