Recurrent pregnancy loss in a woman with NLRP7 mutation: Not all molar pregnancies can be easily classified as either partial or complete hydatidiform moles

Lucia Brown, Sharon Mount, Ramesh Reddy, Rima Slim, Cheung Wong, Vaidehi Jobanputra, Patrick Clifford, Laura Merrill, Stephen Brown

Research output: Contribution to journalArticle

Abstract

Recurrent hydatidiform moles is an uncommon occurrence. Over the past decade, genetic studies of women with multiple recurrent molar pregnancies have revealed that maternal mutations in two different genes, NLRP7 and C6orf221, result in recurrent moles. We report a 23 year old woman, born of unrelated parents, who has experienced three molar pregnancies in succession. Whilst the first pregnancy was classified as a complete hydatidiform mole, the second and third moles defied classification as complete or partial mole using conventional histology, p57 nuclear staining pattern and ploidy studies. Molecular and cytogenetic studies proved that all three molar pregnancies were diploid and biparental in origin. Gene sequencing analysis showed that the patient is homozygous for a previously described mutation in NLRP7. A SNP microarray ruled out the presence of deletion of the NLRP7 locus. This case draws attention to the fact that recurrent molar pregnancies may be the result of specific, identifiable gene mutations, even in patients from non-consanguineous backgrounds. When pathologists encounter patients with molar pregnancies that are diploid and p57 negative and yet have fetal elements such as nucleated red blood cells or immature fetal tissues, it should heighten their suspicion of a possible genetic basis and appropriate molecular genetic workup performed with counseling offered.

Original languageEnglish (US)
Pages (from-to)399-405
Number of pages7
JournalInternational Journal of Gynecological Pathology
Volume32
Issue number4
DOIs
StatePublished - Jul 1 2013

Keywords

  • Hydatidiform mole
  • Mutation
  • NLRP7
  • p57

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Obstetrics and Gynecology

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