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For nonimmune hydrops, prenatal exome sequencing does better than gene panels

Photo of Hydrops ultrasound

Our group has just published a paper comparing our experience with the diagnostic yield of exome sequencing with targeted gene panels for nonimmune hydrops. When this serious condition is detected in a fetus, exome sequencing and gene panels through commercial laboratories are both options for further testing. The bottom line: exome sequencing is able to determine the diagnosis in far more cases than gene panels.

Article published in the Am J Obstet Gynecol. 28 Jul 2021: Exome sequencing vs. targeted gene panels for the evaluation of nonimmune hydrops fetalis.

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When Is Exome Sequencing Valuable in Prenatal Diagnosis? A webinar from the UCSF Fetal Treatment Center presented by Mary N. Norton, MD, and Teresa N. Sparks, MD