METHODS AND SYSTEMS FOR DIAGNOSING PRENATAL ABNORMALITIES

摘要

Embodiments of various aspects described herein are directed to methods and systems for performing a prenatal diagnostic testing. In some embodiments, the methods and systems described herein can be used to diagnose structural rearrangements or chromosome breakpoints in a prenatal sample. In some embodiments, the methods and systems described herein can be used to diagnose de novo balanced chromosomal rearrangements in a prenatal sample.