Ep 13 Chromosomal Abnormalities Pathology | Survivable triplicates

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Chromosomal abnormalities are often incompatible with life.

However, there are a few exceptions to this rule and history has shown us that certain paired chromosomes can include a third. These conditions are known today as Down syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18) and Patau syndrome (Trisomy 13). These syndromes are routinely screen for in pregnancy with NIPT (Non-Invasive Prenatal Testing).

This podcast includes an interview discussing the application of NIPT with Professor Graeme Suthers and the path ahead for foetal screening and this section of the podcast is eligible for 1 RACGP CPD point – self reporting.

Professor Graeme Suthers
BSc (Med), MBBS, PhD, FRACP, FRCPA, GAICD
clinpath.com.au/about-us/clinpath-leadership/our-pathologists/professor-graeme-suthers/

This Pathological Life is produced by Clinpath Pathology in South Australia.

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