Prenatal diagnosis and reproductive medicine

The prenatal diagnosis and reproductive medicine section of the genetics laboratory carries out genetic testing for a range of clinical referrals including prenatal diagnosis, recurrent miscarriage, infertility, cases of fetal loss, and genetic disorders of sexual development.  These referrals are covered in more detail in the linked sections below.

Reproductive medicine

Recurrent miscarriage

Testing in patients with recurrent miscarriage is offered in line with the guidance offered by Royal College of Obstetricians and Gynaecologists with frontline testing performed on tissue samples from the third and subsequent recurrent miscarriage.  Analysis of parental blood samples is offered as an additional private test.  Please contact the laboratory for details.

Fetal losses with congenital anomalies

Genetic testing is offered as part of investigations into the cause of fetal loss.  This testing is offered in collaboration with Perinatal Pathology, and may include various investigations including QF-PCR, subtelomere MLPA and chromosomal microarray analysis.

Infertility investigations

Genetic testing is offered as part of investigations for reduced fertility.  Referrals for subfertility should follow the NICE guidelines and British Fertility Society guidelines for male subfertility.   Chromosome analysis may be performed for suitable referrals, together with cystic fibrosis carrier status studies in cases of non-obstructive azoospermia.  Y chromosome microdeletion testing is available at an additional cost.

For sample requirements please see the test directory.

Disorders of sexual development

Disorders of sex development (DSDs) refer to congenital disorders where the chromosomal, gonadal or anatomical sex is atypical. Patients typically present neonatally with ambiguous genitalia preventing immediate gender assignment, during adolescence where atypical sexual development becomes apparent, or with a family history of a disorder. Genetic testing for patients with ambiguous genitalia or disorders of sexual development (DSD) is available within the laboratory.  This includes: cytogenetic analysis, chromosomal microarray analysis, testing for congenital adrenal hyperplasia (21-hydroxylase deficiency), and a next generation sequencing panel which includes sequencing of 30 genes associated with DSD.

For details please see the test directory or contact the laboratory.

Prenatal diagnosis

Genetic testing by prenatal diagnosis is offered to women with pregnancies at an increased risk of genetic abnormality.  We provide a comprehensive genetic service including conventional chromosome analysis, chromosomal microarray analysis and rapid diagnostic molecular testing.

Indications for prenatal diagnosis include an increased risk from serum screening, an abnormal finding on ultrasound scan, or a family history of chromosome abnormality or single gene disorder.

Testing can be performed on samples including amniotic fluid samples, chorionic villus, fetal blood, and maternal blood.

Samples referred due to an abnormality on ultrasound scan are tested by QF-PCR analysis for rapid detection of trisomies 13, 18 or 21, and sex chromosome abnormalities, and further testing is provided by chromosomal microarray analysis. Samples referred due to increased serum screening risk are tested by QF-PCR analysis for rapid detection of trisomies 13, 18 or 21 only.  Additional fetal sexing or karyotyping for these samples is available as a private service, with pricing available upon request.

Testing is available for many single gene disorders where indicated – this testing will either be performed in-house, or by another laboratory where not available at WMRGL.  This is usually co-ordinated through the Clinical Genetics Service.  Please enquire for more details.

For sample requirements and reporting times please see the test directory.

Non-Invasive Prenatal Diagnosis (NIPD) And Non-Invasive Prenatal Testing (NIPT)

NIPD is offered for determination of fetal sex in pregnancies at risk of a sex-linked condition or congenital adrenal hyperplasia.  This testing is usually available in conjunction with our Clinical Genetics Service.  Testing is performed on a sample of blood taken from the mother around 9 weeks gestation.  Please contact the laboratory for further information.

NIPD is offered for a range of single gene disorders including DMD, CF and SMA. Referrals should be made in conjunction with Clinical Genetics. Please contact bwc.rglprenatal@nhs.net for further information and to request Streck™ blood collection tubes and information leaflets.

NIPT to detect trisomies 13, 18 and 21 (the Lucina test) is also available. Please see the below Lucina NIPT Referral Pack for further information.

Lucina NIPT Referral Pack

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 provided as part of this test.

The below documents contain information for clinicians wishing to send patient samples to the laboratory for this testing:

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 and patient referral stickers 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.