Abstract
Non-invasive prenatal screening with cell free DNA (cfDNA) includes the option to screen for microdeletion syndromes but data on test performance are limited. We report on performance of cfDNA for detection of 4 microdeletion syndromes: Cri-Du-Chat (5p-), Prader-Willi syndrome (PWS), Angelman syndrome (AS) and 1p36del syndrome.
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