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;

Core tests

  • 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

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

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 bwc.rglprenatal@nhs.net 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;

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