East Genomics

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Prenatal testing

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.

Urgent advice: ALERT! New test added to the national Genomic Test Directory

NIPT - R445 Common Aneuploidy Testing

Any 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.

This pathway is due to be implemented within maternity services across the East of England by 1st April 2024.

All testing will be routed via the NIPT laboratories commissioned by the Fetal Anomaly Programme.


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.

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: NEW Nov 23: 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.

You can find the resources on the NEY GMSA website here.

Red cell disorder testing

The North West GLH (Manchester) is the designated centre for East GLH referrals Haemoglobinopathies. As per the standard pathway, all prenatal samples should be sent to your local laboratory for DNA preparation, routine testing and rapid transfer to the North West GLH.

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 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.

Learn more about this pathway here: found here. (opens in a new tab)

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.

This will be implemented into maternity services by 1st April 2024. Please contact your Antenatal Screening or Fetal Medicine team for more information.

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.