Using fetal DNA to find reasons for miscarriage

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

Many parents who suffer a miscarriage don’t get an explanation for their loss. Tommy’s is supporting research into how a blood test could give parents the answers they need.

Start: 2016

End: 2019

Why do we need this research?

More than half of miscarriages are related to genetic problems in the baby. But even in apparently healthy pregnancies, there may be genetic problems which are not being picked up with current methods. Either way, when miscarriage happens, many parents aren’t given a reason why.

Cell-free fetal DNA

Currently, tests in the second and third trimester use a baby’s DNA to find out the sex of the baby, as well as to diagnose genetic diseases. This DNA – known as cell-free fetal DNA (cffDNA) – is shed from the placenta into the mother’s blood, where it can be picked up in a blood sample. This is called Non-Invasive Prenatal Testing, or NIPT.

So far, this type of test has not been used in the first trimester of pregnancy. However, we think that testing the baby’s DNA in this way will help give parents who have suffered miscarriage an explanation for their loss.

What’s happening in this project?

Researchers funded by Tommy’s are studying the DNA from babies and parents to investigate whether it could reveal clues for why miscarriages happen.

Following a small pilot project, the team have now recruited 320 pregnant women to a new study. These women had either had a recent miscarriage, or have had multiple miscarriages in the past. The team are collecting blood samples from all the women to look at the cffDNA, and see if it can reveal if there were genetic reasons for miscarriage.

The researchers have also carried out a review of all existing studies into the role of DNA in miscarriage. They found a few genetic variations which have been repeatedly linked to having multiple miscarriages. Their work confirms that identifying the genes involved in recurrent miscarriage would be valuable to help parents understand their loss, and help to predict which couples have a higher chance of miscarriage.

What difference will this project make?

This project will help us to better understand the link between our genes and recurrent miscarriages. Our researchers hope that their work will lead to a new blood test which could give parents explanations for their loss, and indicate whether they are at risk of miscarriages 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.

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