NIPSIGEN - Clinical translation of NIPD for single gene disorders.
Research type
Research Study
Full title
Translation of non-invasive prenatal diagnosis for single gene disorders into a clinical setting.(NIPSIGEN)
IRAS ID
127489
Contact name
Stephanie K Allen
Contact email
Sponsor organisation
Birmingham Women's Hospital
Research summary
Current prenatal genetic testing is by amniocentesis or chorionic villus sampling which each carry miscarriage risks. Recently developed tests, called “non-invasive” prenatal diagnosis (NIPD), do not have miscarriage risks. These are possible since the discovery that there is a small amount of a baby’s genetic material, known as free fetal DNA, present in a pregnant mothers blood. Tests for some genetic disorders, such as the muscle disorders Duchenne and Becker muscular dystrophies, are currently being developed. However because there are thousands of different genetic disorders, many extremely rare, it is challenging to make these tests available to a wide range of different families. This project will accelerate the safe transfer of genetic research into improved patient care for many different genetic disorders. Removing the miscarriage risk with the introduction of NIPD will increase the acceptability, and therefore availability of prenatal genetic testing for many couples. The development of noninvasive prenatal diagnosis will involve optimisation and validation of experimental techniques on maternal plasma samples from women undergoing CVS or amniocentesis for that particular single gene disorder. We are therefore planning to collect plasma samples from these women, along with information regarding the pregnancy,for optimisation and validation of testing for the disorder that the prenatal testing was carried out. The study will be conducted in the Regional Genetics Laboratory at Birmingham Women’s Hospital, and participants will be recruited through Clinical Genetics Units across the United Kingdom. Patients are referred to these clinics for counselling and genetic testing as they have a family history of a single gene disorder.
REC name
North West - Greater Manchester West Research Ethics Committee
REC reference
13/NW/0580
Date of REC Opinion
22 Aug 2013
REC opinion
Further Information Favourable Opinion