Research finds key indicator of potentially fatal birth defect

Maternal and newborn health researchers may have found a way for doctors to quickly diagnose and treat babies with the potentially fatal birth defect Loeys-Dietz syndrome or Marfan syndrome type II.

This disease has many of the outward characteristics of other conditions, with facial features including a cleft palate, but it also causes heart problems that can kill infants if they are not helped soon enough.

A team from the Ostrow School of Dentistry at the University of Southern California (USC) in the US discovered the abnormality can be identified by testing a tissue or blood sample for elevated levels of Transforming Growth Factor Beta protein outside of cells.

The researchers said this is a key indicator of Loeys-Dietz syndrome and suggested the finding could inform clinical practice and even lead to a way of preventing the disease in the future.

Director for the USC Center for Craniofacial Molecular Biology and corresponding author of the study Yang Chai said: "Perhaps, one day we can manipulate the amount [of the protein] and possibly rescue the cleft palate before a baby is born."

A study published in the Ultrasound in Obstetrics & Gynecology journal recently showed foetal tracheal occlusion could improve survival rates among infants with severe congenital diaphragmatic hernia.