Growing list of genetic disorders set to become treatable at, or before, birth

Study suggest there are currently almost 300 genetic disorders which can be treated in utero or in the first week of life

A collaboration drawing researchers from Mass General Brigham, Harvard Medical School, both of Boston, Massachusetts and Duke University School of Medicine, Durham, North Carolina, all in the United States from, have identified 296 genetic disorders that can be treated before – or immediately – after birth.

“One of our goals is to expand the options that a family has during pregnancy,” said Dr Jennifer Cohen, the lead author on the study and a medical geneticist at Duke University Hospital, said.

The ‘Treatable Foetal Findings List’ is set to improve the opportunities for the diagnosis of genetic conditions in pregnancy and consequently enhance treatment options available for foetuses with these conditions.

“We saw a critical gap in prenatal care and an opportunity to define the genetic disorders that are treatable during this time,” said Dr Nina Gold, director of Prenatal Medical Genetics at Massachusetts General Hospital, and a senior author of the article.

“These conditions are actionable meaning … we can intervene early and improve outcomes,” she added.

In the last ten years, genomic sequencing has become a vital in helping to inform prenatal diagnoses. Sequencing, in combination with family history, can help identify genes responsible for abnormalities seen on ultrasound scans.

These genetic tests can also make secondary detection that may predispose a foetus or newborn to serious but treatable conditions. These include heart conditions treatable with medication or gastrointestinal disorders manageable with electrolytes. The team set out to document a checklist of treatable conditions so that patients can be offered choice to accept therapies on receiving this information. 

“These lists of genes are meant to provide the possibility of early intervention, which in some cases may change the natural history of the disease,” said Dr Cohen.

The authors have identified 296 genetic conditions – through literature review – which ranged from disorders that had emerging therapies for the foetus, to those where immediate postnatal treatment can prevent irreversible harm. Timely detection of these conditions could reduce the impact of disease as well as infant mortality and offer families novel opportunities for earlier intervention.

“Our goal in creating this targeted list of treatable foetal findings is to improve care, but we are sensitive to the challenges for physicians, genetic counsellors, and patients when it comes to navigating new health information during pregnancy or immediately after the birth of a child.

“This is why it’s so important to work as a care team to empower our patients and provide them with the clearest information possible,” said Dr. Gold.

For further reading please visit: 10.1016/j.ajhg.2025.03.011