Abstract
•NLRP7 germline mutation can result in high risk gestational trophoblastic neoplasia.•No successful reproductive outcomes have been reported with homozygous NLRP7 mutation.•Germline testing should be considered for patients presenting with recurrent gestational trophoblastic disease.•Once an NLRP7 mutation is diagnosed, consultation with reproductive endocrinology is necessary to discuss future fertility.•Further research is needed in rare cases regarding gestational trophoblastic neoplasia recurrence and reproductive outcomes.