Using fetal DNA to find reasons for miscarriage

Many parents who suffer a miscarriage don’t get an explanation for their loss. Researchers supported by Tommy’s have been finding out whether a simple blood test could give parents the answers they need.
  • Authors list

    Stephanie Allen, Graham Fews, Susan Hamilton, Emily Colley, Fiona Togneri, Arri Coomarasamy, Abey Eapen, Paul Smith 

    Start date: 2016
    End date: 2019

Why do we need this research?

More than half of miscarriages are related to genetic problems with the baby. Sadly, it is not always possible to tell whether miscarriage occurred because of a genetic problem, meaning that parents sometimes don’t find out why their miscarriage happened.

We urgently need new ways of testing for genetic abnormalities so that more parents get the answers they need.

Cell-free fetal DNA

A simple blood test – called Non-Invasive Prenatal Testing, or NIPT – can now be used in the second or third trimester of pregnancy to find out the sex of the baby, as well as to diagnose genetic diseases. This blood test looks at something called cell-free fetal DNA (cffDNA), which is DNA that is shed from the placenta into the mother’s blood.

Before carrying out this research, this type of test had not been used in the first trimester of pregnancy. However, our team wanted to find out whether testing the baby’s DNA in this way could help give parents who have suffered miscarriage an explanation for their loss.

What happened in this project?

Researchers funded by Tommy’s studied DNA from babies and parents to find out whether it could reveal clues about why miscarriage happened.

Following a small pilot project, the team recruited 320 pregnant women to a new study. These were women who’d either had a recent miscarriage, or who’d experienced multiple miscarriages in the past. The team collected blood samples from all the women to look at the cffDNA and see if it revealed any genetic reasons for miscarriage.

The researchers also carried out a review of all existing studies into the role of DNA in miscarriage and identified several genetic abnormalities that seemed to be linked to miscarriage.

What difference will this project make?

This project has shown that it may be possible to use a simple blood test to find out whether miscarriage was caused by a genetic problem with the baby. Our researchers hope that this blood test can be used in the future to give parents an explanation for their loss, and to indicate whether they are at risk of another miscarriage in the future.

Thanks for your interest in our research

Tommy's funds research across the UK investigating the reasons for miscarriage, stillbirth and premature birth. We can keep you updated on ways you can support our work. If you would like to join our fight against baby loss and premature birth, click here.