Down syndrome
BMJ Best Practice Podcast
00:00
Navigating Down Syndrome Diagnosis and Management
This chapter explores the diagnostic challenges and essential tests for Down syndrome, particularly emphasizing chromosome testing over FISH. It also addresses the genetic implications of translocations and the critical role of genetic counseling. Additionally, the chapter outlines care management strategies for affected infants and stresses the need for specialized healthcare to support their ongoing development.
Transcript
Play full episode
