Genetic testing identifies the risk of pre-eclampsia, a disease during pregnancy months before symptoms

By analyzing maternal, fetal, and placental RNA that circulates in the mother’s blood during pregnancy, researchers predicted preeclampsia and preterm birth in about the same proportion in 75% of cases. Nature..

“Over the years, what has been disastrously revealed is a clinical biomarker that tells someone that they may be at increased risk of preterm birth, preeclampsia, or complications during pregnancy. And the lack of good clinical risk stratification techniques and tools, “Author Thomas McElrath, MD, PhD, The doctor in charge of maternal-fetal medicine at Brigham and Women’s Hospital told Healio.

Researchers have developed a way to detect the disease early and treat it therapeutically by examining the progression of seven genes that are consistently involved in preeclampsia in mothers and babies during pregnancy. Stated.

Pattern change

Researchers have extracted cell-free RNA (cfRNA) from a single blood test from the mother and sequenced a set of genes from this material at various times during pregnancy at 1,840, and their activity was such as the fetal heart. Confirmed to reflect the expected physiological changes at that time of the mother’s uterine and cervical development and changes.

Thomas McElras

“Every week we see a nearly kaleidoscopic pattern of expression of thousands of genes, and the next week we’ll see a slightly different pattern,” says Machaerus. “You can look at the normal pattern of gene set expression during pregnancy.”

Researchers said the test was “Reliable prediction of pre-eclampsiaWith a sensitivity of 75% and a positive predictive value of 32.3% (standard deviation, 3%), it is seven times the current clinical method. The technique also functions similar to late-gestation ultrasonography in estimating the progression of pregnancy and is superior to late-gestation ultrasonography, the researchers said.

“We have documented how these patterns change, and that’s the real innovation here,” says McElrath. “Basically, once you have a map of normal RNA expression as your pregnancy progresses, you can start looking at what the abnormalities look like.”

A positive test correctly identified 73% of individuals who gave birth pretermly more than 3 months before the onset of clinical symptoms or childbirth. Such windows may allow providers to design clinical interventions for women identified as at risk.

“We were able to confirm that she was receiving proper medical prophylaxis,” McElrath said. Health providers may prescribe low-dose aspirin to reduce the risk of pre-eclampsia, schedule these women for more frequent clinical visits, or move these women to a more suitable environment for high-risk patients. It can be done, Mr. Mackerus said. They can also be trained to monitor their blood pressure.

Improvement of preventive care

Clinical factors such as age, race, and maternal weight did not improve the performance of the screening model, the researchers added, and the cfRNA profile is itself a strong predictor of pre-eclampsia, and thus the disease. It is deeply rooted in the underlying mechanism of the human population and shows that it has the potential to be more generalized.

“We are really starting to explain things at a very basic biological level,” McElrath said.

By aggregating eight independent studies Cohort containing multiple ethnic groups, Nationality and socio-economic status, researchers said they have collected the largest and most diverse set of maternal transcriptomes to date.

“In today’s world, where the issue of discrimination and fairness is very relevant, the idea of ​​being able to remove racial variables from clinical risk calculations was important,” McElrath said.

Researchers also hope that the cfRNA sequence will improve preventive care for preeclampsia, preterm birth, gestational diabetes, and other maternal conditions, and ultimately advance the study of fetal complications. Said.

“You can start investigating your baby’s growth problems and potential metabolic or internal problems in your baby in ways you haven’t seen before. Note that you’re receiving RNA signals from your baby itself. Please, “said Machalas. “This can really enhance what future monitoring can do.”

In addition, researchers said that analysis of the cfRNA profile could allow researchers to develop new treatment strategies and select clinical trial candidates more efficiently.

“If you have a disease that occurs in about 7% of all pregnancies, you actually need to enroll tens of thousands of individuals to get 1000 cases of preeclampsia,” McElrath said. .. “If we can identify people at high risk, we can do these studies much more efficiently and in a timely manner.”

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