GOSH Introduce Non- Invasive Prenatal Testing


The North East Thames Regional Genetics Laboratory, based at Great Ormond Street Hospital, has launched its own non-invasive prenatal testing (NIPT) service to screen for Down's syndrome.

 

If you are considering using NIPT, please read the information below carefully.

 

All referrals must come through a healthcare professional in an NHS hospital. 

There is a charge made for this test.

The test is currently under consideration by the National Down Syndrome Screening Programme but NIPT is not yet commissioned for delivery within the NHS. Therefore, although the test is carried out in our NHS laboratory, we have to cover our costs by making this charge.

 

For the first time this test is being carried out entirely in a UK NHS laboratory and has been made possible by NIHR funding for the RAPID (Reliable Accurate Prenatal non-Invasive Diagnosis, RP-PG-0707-10107) project.  The test has been developed and validated in the North East Thames Regional Genetics Laboratory with analysis performed by our clinical scientists using our unique bioinformatic pipeline (RAPID-R1). This test is now in clinical service after successful analysis of more than 2700 samples performed as part of our evaluation study.

 

NIPT is more accurate than the standard screening tests that are available. The test is performed on a sample of the mother's blood, which is taken from the arm like a normal blood test after 11 weeks gestation (as confirmed by ultrasound scan). Results will be available within 5-10 working days of the blood sample arriving in our laboratory.

 

NIPT is not yet accurate enough to give a definite answer as to whether or not a baby has Down's syndrome. An invasive test (CVS or amniocentesis) is still necessary to confirm diagnosis following a positive NIPT result.

 

If anything is unclear, ask your healthcare professional.

 

Information for patients:

NIPT leaflet colour

NIPT leaflet b/w

 

Information for Healthcare Professionals:

 

NIPT aneuploidy referral card

NIPT service information sheet

 

Press Coverage

  ITV online article

 BBC online

 

1Lo K, Boustred C, Chitty LS, Plagnol V:  RAPIDR: an analysis package for non-invasive prenatal diagnosis of aneuploidy.  Bioinformatics 2014;30:2965-7

© 2011 Great Ormond Street Hospital for Children NHS Trust