Prenatal diagnosis of pectus excavatum

Diagnosis of Pectus Excavatum (PE) is not always as easy as you might think. Some individuals go their entire childhood or even parts of adult life without realizing that the "dent" in their chest has a diagnosis associated with it. About one-third of PE patients present during infancy. This study reports the second case of a prenatal diagnosis of PE. That means that the diagnosis was made while the baby was still in utero (before birth). In this case, the baby was diagnosed with PE at 23 weeks. Why is this important? Sometimes, PE can be a sign of a connective tissue disorder like Marfan or Ehlers Danlos. Identifying PE early helps to initate several follow up tests: exams by cardiologists and pulmonologists. In certain cases, genetic testing may be warranted with a prenatal diagnosis of PE due to the accompanyting abnormal findings that sometime come with PE.