Prenatal-Reproductive genomic testing
The prenatal diagnosis and reproductive medicine section of the department carries out genetic testing for a range of clinical referrals including prenatal diagnosis, recurrent miscarriage, infertility and cases of fetal loss.
WMRGL provides local, regional and national testing for the clinical indications listed below.
Further information is also provided in the NHS England Genomic Medicine Service Test directory regarding eligibility for specific tests. Test Directory
Core tests
Please contact bwc.rglprenatal@nhs.net
- Common aneuploidy testing (QF-PCR for trisomies 13,18,21) – R401
- Fetus with likely chromosomal abnormality (chromosomal microarray analysis)– R22
- Fetal anomalies with a likely genetic cause (rapid prenatal exome testing)– R21
- Recurrent miscarriage with products of conception available for testing (QF-PCR and chromosomal microarray analysis) – R318
Specialist tests
Please contact bwc.nipd@nhs.net
- Non-invasive prenatal sexing – R251
- Non-invasive prenatal diagnosis (NIPD) using paternal exclusion testing for very rare conditions where familial mutation is known - R249
- NIPD pre-pregnancy test work-up - R389
- NIPD for congenital adrenal hyperplasia (CYP21A2 haplotype testing ) – R250
- NIPD for cystic fibrosis (haplotype testing) – R304
- NIPD for Duchenne and Becker muscular dystrophy (haplotype testing) – R310
- NIPD for Spinal Muscular Atrophy – R311
- NIPD for FGFR3-related craniosynostosis syndromes – R309 - coming soon
Rapid Prenatal Exome testing R21
Please contact bwc.rglprenatalexome@nhs.net
Rapid Prenatal exome testing is available in the Test Directory for pregnancies where the fetus has multiple anomalies on fetal ultrasound scan, with a likely monogenic cause. Testing is provided by two Genomic Laboratory Hubs for the whole of England. WMRGL provides local and national testing for the following regions with referral through the local home GLH (Genomics Laboratory Hub):
Central and South GLH
Yorkshire and North East GLH
North West GLH
Guidance documents for referral of patients are linked below. Testing can only be requested through specialist MDT following review in a tertiary fetal medicine unit and after discussion with a Consultant Clinical Geneticist.
Rapid Prenatal Exome testing documents
- NHSE Guidance Document – Rapid Exome sequencing Service for fetal anomalies testing
- R21 Test Request form for Rapid Exome Sequencing
- R21 - Information for Parents
- R21 Frequently Asked Questions about Rapid Prenatal Exome Sequencing
- R21 Patient Record of Discussion regarding Prenatal Exome Sequencing
- R21_Inclusion/Exclusion_Criteria
- Fetal Medicine Pathway and Checklist for R21 Testing Ongoing Pregnancy
NIPT for Down, Edwards and Patau syndrome
Please contact bwc.niptscreening@nhs.net
NIPT is a non–invasive prenatal screening test for identification of trisomy 13, 18 and 21 using maternal blood. Testing can be performed from 10 weeks gestation (confirmed by scan). NIPT is provided as part of the FASP pathway for women who have received a higher chance result (between 1 in 2 and 1 in 150) from either the combined or quadruple test in both singleton and twin pregnancies. For further information, please refer to NHSE operational guidance on NIPT (NHS Fetal Anomaly Screening Programme (FASP) overview).
NIPT can also be offered for women with a confirmed previous affected pregnancy with any full trisomy for chromosome 21, 18 or 13 via the National Genomic Test Directory (R445).
This test is also available on a private basis at a cost of £275. Please note that fetal sex is not reported as part of this test. Patient samples must be referred to the lab from a healthcare provider.
The below documents contain information for clinicians wanting to send patient samples to the laboratory for testing;