Prenatal Diagnosis & Reproductive Medicine

Project leads: Stephanie Allen, Dom McMullan, Elizabeth Young, Sue Hamilton -

West Midlands Regional Genetics Laboratory is a leading centre in the development and implementation of new Prenatal Diagnostic testing within the UK NHS.   

This includes the development of “non-invasive prenatal testing” for pregnancies at risk of either a chromosome abnormality or a monogenic disorder, and also development and evaluation of the new rapid fetal exome service. 

We work closely with clinical colleagues in Fetal Medicine, Clinical Genetics, Obstetrics and Gynaecology. 


Grants and Collaborations 



Collaboration with EXPRESS study (led by North Thames Genomic Laboratory Hub) and referrers.

Evaluation of rapid fetal exome service. 



Collaboration with Tommy’s miscarriage centre.

Investigation of cell-free fetal DNA (cffDNA) in the evaluation of miscarriage.  



Health Innovation Challenge Fund

Prenatal assessment of genomes and exomes (PAGE). (£4,062,337) 



Health Innovation Challenge Fund

Translation of non-invasive prenatal diagnosis (NIPD) for selected single gene disorders into a clinical setting. (£398,877). 

*Winner of 2017 WM Academic Health Science Network Innovation Award 


Key Publications 

Mone F, Abu Subieh H, Doyle S, Hamilton S, McMullan DJ, Allen S, Marton T, Williams D, Kilby MD. Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study. Ultrasound Obstet Gynecol. 2021 Dec 23. doi: 10.1002/uog.24842. Epub ahead of print. PMID: 34940998.

Castleman JS, Wall E, Allen S, Williams D, Doyle S, Kilby MD. The prenatal exome - a door to prenatal diagnostics? Expert Rev Mol Diagn. 2021 May;21(5):465-474. doi: 10.1080/14737159.2021.1920398. Epub 2021 May 6. PMID: 33877000.

Kodabuckus SS, Quinlan-Jones E, McMullan DJ, Maher ER, Hurles ME, Barton PM, Kilby MD. Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation. Fetal Diagn Ther. 2020;47(7):554-564. doi: 10.1159/000504976. Epub 2020 Jan 21. PMID: 31962312; PMCID: PMC7446299.


Young E, Bowns B, Gerrish A, Parks M, Court S, Clokie S, Mashayamombe-Wolfgarten C, Hewitt J, Williams D, Cole T, Allen S. Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders. J Mol Diagn. 2020 Sep;22(9):1151-1161. doi: 10.1016/j.jmoldx.2020.06.001. Epub 2020 Jun 15. PMID: 32553884; PMCID: PMC7471768.


Colley E, Devall AJ, Williams H, Hamilton S, Smith P, Morgan NV, Quenby S, Coomarasamy A, Allen S. Cell-Free DNA in the Investigation of Miscarriage. J Clin Med. 2020 Oct 26;9(11):3428. doi: 10.3390/jcm9113428. PMID: 33114508; PMCID: PMC7693881.


Mone F, O'Connor C, Hamilton S, Quinlan-Jones E, Allen S, Marton T, Williams D, Kilby MD. Evolution of a prenatal genetic clinic-A 10-year cohort study. Prenat Diagn. 2020 Apr;40(5):618-625. doi: 10.1002/pd.5661. Epub 2020 Feb 21. PMID: 32037575.


Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31. PMID: 30712880; PMCID: PMC6386638.


Quinlan-Jones E, Lord J, Williams D, Hamilton S, Marton T, Eberhardt RY, Rinck G, Prigmore E, Keelagher R, McMullan DJ, Maher ER, Hurles ME, Kilby MD. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies. Genet Med. 2019 May;21(5):1065-1073. doi: 10.1038/s41436-018-0298-8. Epub 2018 Oct 8. PMID: 30293990; PMCID: PMC6752266.


Togneri FS, Kilby MD, Young E, Court S, Williams D, Griffiths MJ, Allen SK. Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory. Genet Res (Camb). 2019 Dec 9;101:e11. doi: 10.1017/S0016672319000119. PMID: 31813398; PMCID: PMC7044975.


Deans ZC, Allen S, Jenkins L, Khawaja F, Gutowska-Ding W, Patton SJ, Chitty LS, Hastings RJ. Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme. Prenat Diagn. 2019 Apr;39(5):379-387. doi: 10.1002/pd.5438. Epub 2019 Mar 12. PMID: 30767256; PMCID: PMC6619285.


Chong HP, Hamilton S, Mone F, Cheung KW, Togneri FS, Morris RK, Quinlan-Jones E, Williams D, Allen S, McMullan DJ, Kilby MD. Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases. Prenat Diagn. 2019 Nov;39(12):1064-1069. doi: 10.1002/pd.5545. Epub 2019 Aug 22. PMID: 31393021.


Colley E, Hamilton S, Smith P, Morgan NV, Coomarasamy A, Allen S. Potential genetic causes of miscarriage in euploid pregnancies: a systematic review. Hum Reprod Update. 2019 Jul 1;25(4):452-472. doi: 10.1093/humupd/dmz015. PMID: 31150545.


Jenkins LA, Deans ZC, Lewis C, Allen S. Delivering an accredited non-invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice. Prenat Diagn. 2018 Jan;38(1):44-51. doi: 10.1002/pd.5197. PMID: 29266293.


Deans ZC, Allen S, Jenkins L, Khawaja F, Hastings RJ, Mann K, Patton SJ, Sistermans EA, Chitty LS. Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion. Prenat Diagn. 2017 Jul;37(7):699-704. doi: 10.1002/pd.5068. Epub 2017 Jun 8. PMID: 28497584; PMCID: PMC5525582.


Allen S, Young E, Bowns B. Noninvasive prenatal diagnosis for single gene disorders. Curr Opin Obstet Gynecol. 2017 Apr;29(2):73-79. doi: 10.1097/GCO.0000000000000347. PMID: 28134670.


Parks M, Court S, Bowns B, Cleary S, Clokie S, Hewitt J, Williams D, Cole T, MacDonald F, Griffiths M, Allen S. Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage. Eur J Hum Genet. 2017 Apr;25(4):416-422. doi: 10.1038/ejhg.2016.195. Epub 2017 Jan 25. PMID: 28120840; PMCID: PMC5386415.


Parks M, Court S, Cleary S, Clokie S, Hewitt J, Williams D, Cole T, MacDonald F, Griffiths M, Allen S. Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage. Prenat Diagn. 2016 Apr;36(4):312-20. doi: 10.1002/pd.4781. Epub 2016 Feb 23. PMID: 26824862; PMCID: PMC4864947.



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