International Society for Prenatal Diagnosis 2024 Debate 3-Cytogenetics Is a Dinosaur and Should Be Replaced by...

Cytogenetic technologies such as G-banding chromosome and FISH analyses have long been the gold standard diagnostic test in prenatal genetic testing. However, unbiased next-generation sequencing technologies such as fetal exome or genome sequencing (ES/GS) are becoming widely accessible and increasingly utilized, particularly for fetuses with structural anomalies. Emerging studies are now establishing increased diagnostic yields from molecular technologies, but there remains a lack of consensus as to whether ES/GS should replace cytogenetic technologies and targeted genepanel screening as first-line tests for all prenatal diagnoses. This report is a summary of the debate on this topic presented at the 28th International Conference on Prenatal Diagnosis and Fetal Therapy. Both expert debaters discussed the advantages and disadvantages.