Protecting babies from damaging pregnancy complications
Prestigious journal Nature has just published some of our work on intrahepatic cholestasis of pregnancy (ICP), a liver disorder that raises the risk of premature birth and stillbirth but isn’t well known or understood as it only affects 1 in 140 pregnancies. ICP can make babies more likely to develop heart disease and other serious health conditions later in life, and scientists including Prof Catherine Williamson from Tommy’s London Research Centre have been looking into whether an acid commonly used to treat mothers with ICP could also prevent these lifelong effects on their babies.
Researchers compared biological samples from pregnant women with untreated ICP, others whose ICP had been treated and some who had not developed ICP at all. They found more cholesterol and other dangerous fatty substances in the umbilical cord blood of babies whose mothers had ICP – but these levels were reversed in mothers whose ICP was treated. These results are really encouraging for the families affected by this rare pregnancy complication. We’re working hard to find the best way to treat women with ICP, and you can read more about our other cholestasis research here.
Diagnosing hidden conditions that raise pregnancy risks
Another exciting rare disease study recently published in Nature showed genetic sequencing could make it easier to spot uncommon conditions, including lupus and other immune disorders – which can lead to serious pregnancy complications, but are so hard to diagnose that mothers often don’t know they’re at risk and therefore can’t take steps to protect themselves and their babies.
Currently it can take more than 20 medical appointments over several years to uncover rare diseases and their causes, but an emerging technology called whole-genome sequencing (WGS) could be used to streamline the process. This ground-breaking work was supported by our London Research Centre team at Guy’s & St Thomas’ NHS Foundation Trust and King’s College London, and some hospitals in our National Centre for Miscarriage Research through Imperial College Healthcare NHS Trust.
Researchers applied WGS techniques to NHS data, studying the detailed genetic make-up of more than 7,000 patients and managing to diagnose 1,138 rare diseases. It’s early days but these findings suggest this technology could one day be part of routine healthcare, helping doctors to diagnose and understand the root causes of many rare diseases; mothers who are struggling to carry babies to full term because of conditions that are challenging to diagnose could benefit enormously from this work. You can read the full investigation on the journal’s website here.