Article
Performance of international phenotypic criteria for prenatal exome sequencing: systematic review and comparative diagnostic accuracy study using historical individual participant data.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology - 1 Sept 2025
Reilly K, Rolnik D L, Allen S, Sotiriadis A, Ong S, Sonner S, Blayney G V, Fernando M, Van Mieghem T, Borrell A, Langlois S, Mone F
Abstract excerpt
OBJECTIVES: To evaluate: (i) the performance of the National Health Service (NHS) phenotypic eligibility criteria for prenatal exome sequencing (pES); (ii) the diagnostic yield of individual NHS criteria; (iii) the diagnostic yield when one or multiple NHS criteria were met; and (iv) the performance of the NHS criteria compared with that of phenotypic eligibility criteria used in other countries/regions. METHODS:...
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