Prenatal testing

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 geneticslaboratories@nhs.net (please include ‘prenatal test’ in the subject heading).

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.

Non-invasive prenatal testing (NIPT)

All maternity providers across England are now offering non-invasive prenatal testing (NIPT) as part of the existing NHS screening pathway for high risk pregnancies for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome.

Further guidance and useful information can be found here.

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)

Please speak to your local Clinical Genetics or Fetal Medicine team should you wish order one of these diagnostic tests.