CDH affects one in 5,000 babies born in the UK, impacting the foetus’ development of vital organs
Researchers from University College London (UCL) and Great Ormond Street Hospital (GOSH) have developed a new approach to observing human development in late pregnancy to potentially monitor and treat congenital conditions before birth.
Published in Nature Medicine, the study used collected stem cells from late pregnancy to create and grow cell models, known as organoids, to retain babies’ biological information.
The study of stem cell organoids aims to facilitate the monitoring of foetal development in late pregnancy, model disease progression and test new treatments for diseases including congenital diaphragmatic hernia (CDH).
Affecting one in 5,000 babies born in the UK, CDH occurs when there is a hole in the diaphragm, which can lead to the foetus’ bowel, stomach or liver being moved into the chest cavity during pregnancy.
Researchers extracted and characterised live cells from 12 pregnancies as part of routine diagnostic testing and used single-cell RNA sequencing to identify which tissues they came from.
The stem cells were collected through the amniotic fluid surrounding the child to overcome sampling restrictions, as the child would not be touched during the collection process.
Collected stem cells from the lungs, kidneys and intestines were successfully extracted and used to grow organoids that contained functional features of these tissue types.
Working with researchers from KU Leuven, Belgium, the team studied the development of babies with CDH both pre- and post-treatment to compare organoids from healthy babies to understand the biological characteristics of each group.
Results found that there were significant developmental differences between the health and pre-treatment CDH organoids. However, the organoids in the post-treatment CDH group were much closer to healthy ones, providing an estimate of the treatment’s effectiveness at a cellular level.
Senior author, professor Paolo de Coppi, UCL Great Ormond Street Institute of Child Health and GOSH, said: “Functional prenatal organoids is the first step towards being able to offer a more detailed prognosis and, hopefully, provide more effective treatments in [the] future.”

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