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;
- 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
- Non-invasive prenatal sexing – R251 [pdf] 259KB
- Non-invasive prenatal diagnosis (NIPD) using paternal exclusion testing for very rare conditions where familial mutation is known - R249 [pdf] 289K
- NIPD pre-pregnancy test work-up - R389 [pdf] 289K
- NIPD for congenital adrenal hyperplasia (CYP21A2 haplotype testing ) – R250 [pdf] 259KB
- NIPD for cystic fibrosis (haplotype testing) – R304 [pdf] 262KB
- NIPD for FGFR3-related craniosynostosis syndromes – R309 – available soon
- NIPD for Duchenne and Becker muscular dystrophy (haplotype testing) – R310 [pdf] 289KB
- NIPD for Spinal Muscular Atrophy – R311 [pdf] 259KB
Rapid Prenatal Exome testing R21
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 [pdf] 777KB
- R21 Test Request form for Rapid Exome Sequencing [pdf] 3MB
- R21 Frequently Asked Questions about Rapid Prenatal Exome Sequencing [pdf] 250KB
- R21 Patient Record of Discussion regarding Prenatal Exome Sequencing [pdf] 246KB
NIPT for Down, Edwards and Patau syndrome
Lucina NIPT is a private non–invasive prenatal test being offered through the NHS West Midlands Regional Genetics Laboratory for identification of trisomy 13, 18 and 21 using maternal blood. Please note that fetal sexing information is not routinely provided as part of this test, however if there is a clinical indication from ultrasound scan findings, screening for Turner syndrome (monosomy X) can be performed.
If you would like to offer this testing to your patients, please contact firstname.lastname@example.org for more information and to request for Streck™ blood collection tubes to be sent to your department. Patient samples must be referred to the lab from a healthcare provider. If you do not wish to offer this service directly to your patients, local patients may instead be referred via Birmingham Women’s Hospital’s maternity service.
The below documents contain information for clinicians wanting to send patient samples to the laboratory for testing;