Meet the midwives using genomics to help mothers make the informed choices for themselves and their babies
Steph and Lorna are midwives at Frimley Health NHS Foundation Trust and genomics has transformed the care and support that they can give to families.
Steph is a Genetic Risk Equity Midwife working with mothers who are at greater risk of having a child with a genetic condition. She is passionate about ensuring these mothers have access to accurate and accessible information to understand how the genetics service can help them.
“I regularly work with families who have experienced barriers to healthcare. For example, families where English isn’t their first language which makes it much harder for them to engage with a traditional midwifery team and healthcare in general.”
Before she became a midwife, Steph worked in linguistics, so she is particularly passionate about helping people to overcome any language barriers.
“I worked for many years helping speakers of minority languages to access the same technologies and information as others, but I wanted more human contact. That’s why I decided to train in midwifery.”
When the Genetic Risk Equity Midwife role came up, it gave Steph an opportunity to use all her skills and knowledge.
“Pregnant women are referred to me by the booking midwife when it’s felt that their child may have a higher risk of being born with a genetic condition. That gives me an opportunity to explore their family history in detail and talk through the options that are available to them.”
Many of the women she supports will have an undiagnosed genetic condition going back generations in their family. The antenatal booking appointment and follow-up with Steph is often the first time anyone has taken a family history and joined up the dots.
Steph’s role was initially part of a national project where she worked alongside other specialist midwives and received training from NHS England.
“There are about 10 of us spread across the country, and the group was a great source of support. There was very little about genomics in my midwifery training, so it was a steep learning curve. I also spent time shadowing colleagues from fetal medicine and obstetrics which was very helpful as they often treat pregnancies which have genetic conditions.”
Throughout the pregnancy Steph is there to talk through options, ensuring the mother is always empowered to make her own decisions. Whatever the mother decides, Steph works closely with a wide range of clinical colleagues to ensure that they get the tests and support that they need.
Lorna is a fellow midwife at Frimley Park Hospital where she is responsible for the Antenatal & Newborn Screening Programmes. These national programmes offer screening to pregnant women and their babies for a range of conditions such as sickle cell disease and thalassemia, as well as infectious diseases and screening for fetal anomalies.
One of the biggest changes Lorna has seen in her career is the introduction of the non-invasive prenatal test (NIPT).
The NIPT is a more accurate screening blood test that is offered to women who have received a higher chance Combined or Quadruple screening test result for the possibility of their baby having Down’s syndrome (T21), Edwards’ syndrome (T18), or Patau’s syndrome (T13), without the risk of miscarriage. Since April 2024 NIPT is also available as a first line screening test for women who have had a previous confirmed pregnancy with T21, T18 or T13.
NIPT has been groundbreaking, as it has given women a further choice for testing after an initial higher chance screening result. They can now opt to have a NIPT, a prenatal diagnostic test (like a chorionic villus sample or amniocentesis) or no further testing.
It has also been confirmed that following a 3 year evaluative study that from the 1st of April 2026 the NIPT will continue to be offered to all eligible women, on the NHS.
“Pregnant women are very much supported to make their own decisions. My role is to provide women with evidenced base information and answer all their questions to support them in their own decision making.”
Genomics has had a huge impact on midwifery in recent years. New national research projects, such as the Generation Study which is sequencing the whole genome of 100,000 newborn babies is yet another milestone. The Generation Study offers screening for over 200 childhood – onset rare genetic conditions. The aim is to improve health outcomes for babies with a timelier diagnosis and fundamentally earlier access to care and treatment.
“It’s a hugely exciting time to work in midwifery. There’s so much change and we’re learning something new all the time that can benefit the women and babies we care for. It’s so important that as midwives we ask questions about family history and ensure that we are providing women with accurate information to help them to understand their screening options. Every appointment counts during pregnancy.”
