Recurrent pregnancy loss due to familial and non‐familial habitual molar pregnancy

Abstract

Recurrent pregnancy loss due to habitual molar pregnancy is uncommon and familial cases are extremely rare. The etiology of this disorder is not well understood but likely results from a maternal-effect mutation. Management options are limited, especially for couples who desire to have their own genetic offspring.

Recurrent familial hydatidiform mole - a rare clinical problem

“…Since the women themselves are affected with the autosomal recessive mutation, paternal genotype does not contribute to the pathogenesis. Dysregulation of imprinting occurs due to the methylation defect during oogenesis in the female germ line (2,4). This is believed to be a global methylation defect leading to a switch from maternal to paternal methylation pattern, resulting in BiCHM (5).…”

“…Recurrent moles account for 2% of all hydatidiform moles (1). Some of these recurrent moles are familial, with more than one member of the family having hydatidiform moles and often from different partners (2). The genetic origin of these moles is biparental (BiCHM) and is different from the androgenetic (AnCHM) origin of the usual hydatidiform mole.…”

NLRP7 Mutation Analysis in Sporadic Hydatidiform Moles in Tunisian Patients: NLRP7 and Sporadic Mole

“…Each patient had presented with both recurrent reproductive wastage and normal pregnancy, confirming that NLRP7 mutations may be involved in variously severe reproductive outcomes in a dose-dependent manner. 19,25,[38][39][40] Indeed, some women with reported homozygous mutations had only molar pregnancies and no other abnormal reproductive outcome, 19,25,38 while others had spontaneous abortions and even normal pregnancies alternating with recurrent HMs. 26,39,40 Our findings are in agreement with those of Messaed et al, 34 who investigated the role of NLRP7 in sporadic moles and other forms of reproductive wastage by sequencing this gene in a cohort of 135 patients having at least 1 HM or 3 spontaneous abortions.…”

Review : les môles hydatiformes à répétition

“…Jusqu'à maintenant, environ 25 familles ont é té publié es dans la litté rature anglophone ré cente. Ces cas sont issus de plusieurs ré gions du globe : Liban [12], Chine [15,16], Inde [15], Iran [17], Pakistan [18], Egypte [11], Italie du Sud [6], Mexique et France [4].…”

“…Les cas de ré currences individuelles repré senteraient 0,6 à 2,57 % de tous les cas de môles [7]. Rappelons que le risque de ré cidive aprè s une premiè re grossesse môlaire a é té estimé à 1 % aprè s une MHC, 11 à 30 % aprè s deux MHC [6,[8][9][10], et que les chances de mener une grossesse normale deviennent minimes aprè s trois MHC [11].…”