Improving antenatal care with genetic testing
Dr Dagmar Tapon is a genetic counsellor at Queen Charlotte’s and Chelsea Hospital’s Centre for Fetal Care. As a successful scientist, Dr Tapon became interested in psychology and decided to combine her genetic expertise with counselling, which she describes as the perfect combination. Here, Dr Tapon talks about the role of genetic counselling in antenatal care and innovative new tests which aim to improve early detection of genetic disorders for our patients.
What is genetic counselling?
Dr Dagmar Tapon "The information from test results can often be difficult for patients to adjust to; my role is to explain the findings, help people to come to terms with their news and support patients in a non-judgmental way to make decisions based on test results and their own values and beliefs."
As a specialist genetic counsellor based in fetal medicine I see expectant parents who have had difficult news from a prenatal test, a previous pregnancy that was affected by a genetic condition or family histories of genetic conditions.
The information from test results can often be difficult for patients to adjust to; my role is to explain the findings, help people to come to terms with their news and support patients in a non-judgmental way to make decisions based on test results and their own values and beliefs. Counselling is a very important part of my role and we support every individual or couple differently depending on their situation.
In the Centre for Fetal Care, we all work together and share our unique speciality knowledge. I work with consultant obstetricians, midwives, neonatologists, cardiologists and neurologists to manage each pregnancy. We carry out extensive testing to find out as much information as we can for patients, looking at the prognosis and management of each pregnancy individually.
We currently offer diagnostic testing, such as amniocentesis, to women with a higher chance that their baby could have a genetic condition. Traditionally the testing we’ve been able to offer has been limited to testing for common chromosome conditions such as Down syndrome, Edwards syndrome or Patau syndrome.
At the Centre for Fetal Care we have recently taken part in national studies to develop new prenatal genomic testing, called prenatal exome sequencing, to improve detection rates of genetic conditions. Thanks to these studies and other research, this new testing has been available to NHS patients since 1 October 2020. I also run virtual training sessions with other trusts across north west London to raise awareness of this new service.
As part of prenatal testing, prenatal exome sequencing will be used in cases where we think there may be a condition which is due to one particular gene. This type of condition would not be picked up with the chromosome testing we have traditionally offered. The new test will be offered to pregnant women with a higher chance of their baby having a genetic condition. Patients have an amniocentesis and then we use the sample taken from this test for sequencing.
Research shows prenatal exome sequencing improves detection rates in pregnancies where we know there is an underlying condition that we haven’t been able to test for up until now. Counselling can be very challenging in situations where we can’t offer a prognosis for people to understand. We hope that through this new test, we will be able to provide our patients with more answers and help them to better manage their pregnancies.
We want to give some indication of what future pregnancies might be like and the chance of the same genetic condition reoccurring. When people receive difficult news during a pregnancy or lose their baby because of a fetal abnormality, they can sometimes feel too frightened to try for another baby. Some patients have said it was by having counselling and getting support that they had the courage to try again and go on to complete their family.
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