Prenatal genomic testing is delivered by the East GLH laboratories and by our partner GLHs across England.
Prenatal and maternal samples should be sent to your local laboratory at Cambridge, Leicester or Nottingham for testing. Please use the standard test referral form for submitting samples.
Molecular prenatal notification form
To facilitate rapid prenatal testing for familial molecular variants, a prenatal notification form should be sent in advance of the sampling procedure.
Submitting this form helps to ensure that the testing laboratory has all the necessary information and samples available to expedite a rapid report.
Send completed documents and copies of relevant genetic reports to us at cuh.geneticslaboratories@nhs.net (please include ‘prenatal test’ in the subject heading).
Non-urgent advice: Prenatal Invasive Testing videos and information
The North East and Yorkshire Genomic Medicine Service Alliance (NEY GMSA) have produced a series of videos and associated information leaflets for patients on:
- Family History of a Known Genetic Condition: If you are considering a prenatal invasive test when you have a family history of a known genetic condition.
- Following a Higher Chance Screening Result: If you are considering a prenatal invasive test following a higher chance screening result.
- Following an Unexpected Ultrasound Finding: If you are considering a prenatal invasive test following an unexpected finding on your Ultrasound scan.
Red cell disorder testing
All prenatal samples should be sent to your local laboratory for DNA preparation, routine testing. These will then be sent to the North West GLH (Manchester) as the designated centre for East Genomics referrals for haemoglobinopathies.
R21 - Rapid fetal anomalies testing
This is a rapid sequencing service for testing for fetal anomalies with a likely monogenic disorder.
Further information about this test and referral information can be found on the Great Ormond Street Laboratory website. (opens in a new tab)
R21 video - why and how to test
Link: https://www.youtube.com/watch?v=Bq7KsKJkBTI
R21 video - what to discuss with parents and how to take consent
Link: https://www.youtube.com/watch?v=-djzuiomZhM
Non-invasive prenatal testing (NIPT)
All maternity providers across England offer non-invasive prenatal testing (NIPT) as part of the existing NHS screening pathway (opens in a new tab) for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. This offer is available if a woman has received a higher chance result from 1st or 2nd trimester screening tests.
Outside of the NHS screening pathway, NIPT will now be available for women who have had a previous pregnancy or baby with either Down’s syndrome, Edwards’ syndrome and Patau’s syndrome via the National Testing directory.
Non-urgent advice: NIPT - R445 Common Aneuploidy Testing
This test is available to anyone with a previous pregnancy with reported full trisomy of chromosomes 21 (Down’s syndrome), 18 (Edwards’ syndrome) or 13 (Patau’s syndrome) who meet the National Testing Eligibility Criteria.
All testing is via the NIPT laboratories commissioned by the Fetal Anomaly Programme.
PLEASE DO NOT SEND VIA LOCAL GENOMIC LABORATORY HUB.
For service detail please contact your local antenatal screening or fetal medicine team directly for more information.
You can find out all details on the inclusion and exclusion criteria in the National Genomic Testing Directory.
Non-invasive prenatal diagnosis (NIPD)
NIPD can provide vital information about a pregnancy.
Further information on NIPD can be found here. What is NIPD? - Genomics Education Programme (hee.nhs.uk) (opens in a new tab)
Please speak to your local Clinical Genetics or Fetal Medicine team should you wish order one of these diagnostic tests.