Scientists identify genetic disorders that can be addressed prior to birth

A recent investigation has pinpointed nearly 300 genetic disorders that can be treated during gestation or within the first week of life, laying the groundwork for a “list of treatable fetal findings” that could be presented to expectant patients.

According to researchers at Harvard Medical School, Mass General Brigham, and Duke University School of Medicine, the conclusions could enhance the identification of genetic disorders in pregnancy and expand the treatment possibilities available for fetuses facing such issues. The results of the study are featured in the American Journal of Human Genetics.

“We identified a significant void in prenatal care and an opportunity to clarify the genetic disorders that are treatable during this phase,” stated senior author Nina Gold, director of Prenatal Medical Genetics at Massachusetts General Hospital and an assistant professor of pediatrics at HMS. “These conditions are actionable — meaning that, armed with diagnostic information, we can intervene early and enhance outcomes.”

Throughout the past decade, genomic sequencing has evolved into an essential instrument for informing prenatal diagnoses. Genomic sequencing tests, complemented by family history, can assist in detecting genes responsible for ultrasound irregularities. They can also reveal incidental findings that may predispose a fetus or newborn to grave but manageable conditions, such as a cardiac disorder that can be treated with medication or a gastrointestinal issue that can be handled with fluid and electrolyte treatments. The research team aimed to create a catalog of these treatable conditions so that patients can be empowered with the choice of receiving such information.

Through a review of existing literature, the authors identified a total of 296 genetic disorders, spanning from those with developing fetal therapies to those where immediate postnatal care can avert irreversible harm. The authors stress that prompt identification of these conditions could lessen morbidity and mortality, granting families unparalleled opportunities for early intervention.

“One of our objectives is to broaden the options available to a family during pregnancy,” remarked Jennifer Cohen, the lead author on the research and a medical geneticist at Duke University Hospital. “These gene lists are intended to offer the potential for early intervention, which in certain instances may alter the natural progression of the disease.”

Despite its promise, this initiative presents several challenges. The researchers outline ethical implications and recognize that patients may feel inundated by the volume of information presented. They also underscore the significance of involving medical geneticists, obstetricians, and ethicists to navigate these complexities.

“Our aim in compiling this focused list of treatable fetal findings is to enhance care, but we are mindful of the challenges faced by healthcare professionals, genetic counselors, and patients when confronted with new health information during pregnancy or right after a child’s birth. This is why it’s crucial to operate as a cohesive care team to empower our patients and provide them with the clearest possible information,” expressed Gold.

The research discussed in this article received funding from the National Institutes of Health.