Журнал клинической геномики

NLRP7 mutations in Recurrent Non- Familial Molar Pregnancies: A Case Series

Rekha Aaron*

Purpose: To identify genetic alterations in NLRP7 and KHDC3L genes in cases with non-familial molar pregnancy and their reproductive outcomes.

Method: The genomic DNA was extracted from peripheral blood samples. All the eleven exons of the NLRP7 gene were sequenced. Those patients who were negative for NLRP7 variants were further sequenced for the KHDC3L gene.

Results: In this case series of six women with recurrent pregnancy loss and one or more molar pregnancies, none of them had a significant family history. Moreover, three women had two molar pregnancies. Pathogenic and likely pathogenic variants in NLRP7 were identified in three patients with two or more molar pregnancies, out of which one variant was common in two patients belonging to similar ethnicity. On follow-up, those patients with single molar pregnancy and negative for any pathogenic variants had successful reproductive outcomes.

Conclusion: This report suggests the likelihood of identifying NLRP7 mutations is high in those with two or more molar pregnancies.