Pathogenic variant in <i>NLRP7</i> (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during <i>in vitro</i> fertilization

Abstract

This is the first report of early human embryo development from a patient with any <i>NLRP7</i> mutation. The pathogenic variant identified here resulted in global developmental arrest at or before blastocyst stage. Standard IVF should therefore be discouraged for such patients, who instead need to consider oocyte (or embryo) donation with IVF as preferred clinical methods to treat infertility.