Using fetal DNA to find reasons for miscarriage

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

Tommy’s is supporting research into how a simple blood test could help parents suffering miscarriage to find explanations for their loss.

More than half of miscarriages are related to genetic problems in the baby. However, when it happens, many parents aren’t given a reason why.

For years, tests in the second and third trimester have used 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 by simple blood testing. This is called Non-Invasive Prenatal Testing, or NIPT.

So far, this type of test has not been used in early 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.

A recent small-scale study looked at 50 women who had had miscarriages, and managed to detect DNA in 38 women. Of these pregnancies, 8 babies had extra chromosomes. Depending on where the extra chromosome is accidentally added, the baby can develop Down’s syndrome or a number of other genetic disorders.

The positive conclusion was that cffDNA stays in the mother’s blood as long as the placenta is still in the womb. On the basis of these results, we are carrying out a larger trial, looking at 320 women suffering from miscarriage over 2 years. We have started collecting blood samples from all women to look at the cffDNA and see if we can find out if there were genetic reasons for miscarriage.

We hope that in the future this research will help us to give parents explanations, where before they were simply left without a reason.

Thanks for your interest in our research

Tommy's funds research across the UK investigating the reasons for pregnancy complications and loss. Maternal and fetal research is underfunded and we need your support to continue. There are many small and large ways you can support us, find out more here.


This study is fully funded by Tommy's and takes place in a Tommy's centre

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