A study published in Clinical Case Reports explored prenatal detection of CHARGE syndrome, a rare genetic disorder linked to CHD7 mutations, through ultrasound observations of fetal ear abnormalities. Conducted by researchers at Shijiazhuang Fourth Hospital and BGI Genomics, the study involved a pregnant woman whose fetus showed abnormal ear shape at 22 weeks. Despite declining invasive testing, the diagnosis was confirmed after birth through genetic testing, revealing a de novo CHD7 mutation. The study underscores the importance of early ultrasound and genetic testing between 20-24 weeks of pregnancy for effective management of CHARGE syndrome.
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