Raman spectroscopy for non invasive prenatal testing
Research type
Research Study
Full title
A Raman spectroscopy approach to non-invasive prenatal testing (RNIPT): a pilot study
IRAS ID
252089
Contact name
Cathy Thornton
Contact email
Sponsor organisation
Swansea University
Duration of Study in the UK
1 years, 11 months, 30 days
Research summary
Summary of Research
The National Screening Committee recommends systematic population screening of pregnant women for Down, Edwards or Patau syndrome (Nuchal translucency and blood test at 11 – 14 weeks of pregnancy - the combined test; the quadruple test (blood only) at 14 - 20 weeks). This does not provide a definitive diagnosis but instead provides a measure of risk. If risk is greater than 1/150, women are recommended to undergo non-invasive prenatal testing (NIPT). NIPT uses a maternal blood sample relying on the presence of fetal DNA to apply genetic analysis approaches typically to count the number of fetal chromosomes – i.e. trisomy (3 copies instead of the normal 2) of chromosome 21, 18, 13 for Down, Edwards, or Patau syndrome, respectively. If NIPT gives a high chance result women can opt for invasive tests (chorionic villous sampling and amniocentesis) which have a risk of miscarriage but provide a definitive diagnosis. We are going to investigate the potential for a technique called Raman spectroscopy to be used for analysis of maternal blood for NIPT as well as identifying sex of the baby. Raman is a very cheap and quick test that only needs a small volume of blood plasma (from <1ml blood) in contrast to the current screening cycle than can take weeks and required > 10mls of blood. Our main goal is to see if it can replace the genetic analysis approaches used during NIPT,but Raman spectroscopy could potentially provide a single test for all pregnant women replacing the current stepped approach. Here we want to collect a blood sample from women undergoing amniocentesis to determine how the abundance of fetal DNA in the maternal blood sample affects Raman spectroscopy results.Summary of Results
We have collected blood samples from 10 women undergoing amniocentesis against the anticipated n = 20 but have now ended the study. COVID-19 meant that the study had to be suspended and when the end date of the study arrived we decided to not extend the study as the n = 10 samples that we have should be enough to generate the preliminary data to support a larger follow on study of pregnant women more generally rather than those who undergo amniocentesis specifically.REC name
North of Scotland Research Ethics Committee 2
REC reference
19/NS/0063
Date of REC Opinion
12 Apr 2019
REC opinion
Favourable Opinion