your guide to NIPT - CRGH · NIPT It can be performed from the 10th week of pregnancy, and is a...
4
Clinical excellence & bespoke fertility care your guide to NIPT Non-Invasive Prenatal Testing Basic test
Transcript of your guide to NIPT - CRGH · NIPT It can be performed from the 10th week of pregnancy, and is a...
Clinical excellence &bespoke fertility care
your guide to
NIPT Non-Invasive
PrenatalTesting
Basic 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.
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).
NIPT Basic (also known as NACE)Your blood sample is then 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 that chromosome are present in the pregnancy.
There should be two copies of each chromosome in the pregnancy, but if a 3rd copy of chromosome 21 is detected, this indicates Down syndrome or ‘Trisomy 21’. This test detects >99% of cases of Down syndrome and has a higher accuracy than other types of Down syndrome screening.
The test also detects the majority of cases of Trisomy 13 (Patau syndrome) and Trisomy 18 (Edward syndrome), but it is slightly less accurate than for Downs.
The test can inform you of the sex of the pregnancy, determined by the number of X and Y chromosomes: XX for a female and XY for a male.
If there is an abnormality in the number of X and Y chromosomes this will also be reported eg. Turner syndrome (a single X chromosome), or Klinefelter syndrome (XXY). Accuracy for this result is lower than for chromosomes 13,18, 21.
We strongly recommend that all abnormal results should be confirmed by having an amniocentesis test at 15 - 16 weeks of pregnancy.
There is a small chance of having a baby with Trisomy 13,18 or 21 or a sex chromosome abnormality, despite a normal result on this test. There is also a small 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
MARYLEBONE RD A501
MARYLEBONE RD A501
CLEVELAND ST
GREAT PO
RTLAND
ST
PARK
CRE
SCEN
T M
EWS
HALLAM
ST
GREENWELL ST
BOLSO
VER ST
GREAT PORTLAND ST
PORTLANDHOSPITAL
WE AREHERE
Contact Us: For more information about NIPT at CRGH, please contact: Reception: +44 (0)20 7837 2905 (Mon-Fri 8.30am-6pm)or email: [email protected]
www.crgh.co.uk
Follow us on:
© Copyright The Centre for Reproductive & Genetic Health January 2019
