DNA Testing to Explain Recurrent Pregnancy Loss - REPLIES Study (1.0)
Research type
Research Study
Full title
Recurrent Early Pregnancy Loss Investigation by Exome Sequencing -REPLIES Study
IRAS ID
242188
Contact name
Meenakshi Choudhary
Contact email
Sponsor organisation
The Newcastle upon Tyne Hospitals NHS Foundation Trust
Duration of Study in the UK
1 years, 11 months, 31 days
Research summary
Miscarriage is the most frequent outcome of pregnancy and represents the spontaneous loss of the pregnancy before 24 weeks of gestation. Early pregnancy loss affects up to half of pregnancies with the vast majority occurring before the woman recognises the pregnancy. Up to 1 in every 20 women suffer recurrent pregnancy loss defined as more than 2 consecutive pregnancy losses leading to physical, emotional and financial consequences for couples and their families, doctors and health services.
Different maternal conditions may trigger some pregnancy losses, however, genetic abnormalities in the embryo are the most common cause of early pregnancy loss causing up to half of the occurrences. Previous studies determined that errors in the egg formation cause the vast majority of these genetic abnormalities in embryos.
The aim of this study is to gain insight into causes of recurrent pregnancy loss secondary to numerical chromosomal errors such as Down's syndrome using genome and whole exome DNA sequencing and to develop a cost-effective non-invasive diagnostic test that can be adopted by the NHS and incorporated into routine clinical practice.
This is a feasibility pilot study where a small blood sample will be taken for DNA analysis from women with history of recurrent pregnancy loss with minimum one miscarriage secondary to chromosomal segregation error or abnormality such as trisomy.
REC name
West Midlands - Solihull Research Ethics Committee
REC reference
18/WM/0357
Date of REC Opinion
16 Nov 2018
REC opinion
Favourable Opinion