Ultrasound Scans Aid in Early Detection of CHARGE Syndrome

CHARGE syndrome is a genetic disorder that usually affects parts of a baby’s body. Charge syndrome stands for coloboma of eyes, heart disease, atresia of the choanae, retarded growth and mental development, genital anomalies and ear malformations with hearing loss. This syndrome usually affects 1 in every 8,500 to 15,000 babies. This disorder is very difficult to diagnose because it occurs differently in people. But researchers from Shijiazhuang Fourth Hospital tried to detect CHARGE syndrome early using ultrasound scans to spot ear abnormalities. Ear abnormalities are a common indicator of this syndrome.    

In this study published in Clinical Case Reports, researchers involved pregnant women who came for routine checkups at Shijiazhuang Fourth Hospital. These women had ultrasound scans at weeks 22, 28, 33 and 35 of pregnancy. When researchers observed the reports of these ultrasound scans, they found an abnormal shape in the ear of one of the babies. They wanted to perform more tests on this baby. But the mother denied more tests after talking with a genetic expert.  

 When that baby was born, they performed more tests. Those tests confirmed that the baby had CHARGE Syndrome. They found a mutation in a gene called CHD7 which is usually linked to CHARGE syndrome. It was a new change in the baby’s DNA as it was not present in parents’ genes. In this case, even with extra care and special treatment, the baby’s health did not improve as expected.  

As CHARGE syndrome is a genetic disorder, it is not easy to detect it earlier without specific genetic tests. Even though it is the same syndrome, it occurs differently in different people.   

One of the researchers says that genetic counseling and prenatal testing are important for pregnant women who show abnormalities in ultrasound scans. This will help doctors control birth defects and reduce the risk of death. Healthcare professionals should combine prenatal ultrasound scans with genetic testing to detect such abnormalities accurately.  

Reference Link:   

Yu Liang et al, CHARGE syndrome with early fetal ear abnormalities: A case report, Clinical Case Reports (2024).   

DOI: 10.1002/ccr3.8670