Uterine Rupture in Twin Pregnancy with Normal Fetus and Complete Hydatidiform Mole

Sánchez-Ferrer, María Luisa; Hernández-Martínez, Florentina; Machado-Linde, Francisco; Ferri, Belén; Carbonel, Pablo; Díaz, Aníbal Nieto

doi:10.1159/000355566

Cited by 10 publications

(7 citation statements)

References 19 publications

(38 reference statements)

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“…Complete hydatidiform mole (CHM) is an abnormal pregnancy that typically arises from an androgenote (diploid conception without maternal chromosomes) and predominantly gives rise to the development of only trophoblastic tissues [1,2]. Recent studies of rare familial cases with recurrent molar pregnancies have shown that mutations of NLRP7 and KHDC3L (C6orf221) are associated with recurrent hydatidiform moles (RHMs) [3,4].…”

Section: Introductionmentioning

confidence: 99%

Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole

Ito

Maehara²,

Kaneki

et al. 2015

Gynecol Obstet Invest

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Aim: This study aimed to clarify the genetic and epigenetic features of recurrent hydatidiform mole (RHM) in Japanese patients. Methods: Four Japanese isolated RHM cases were analyzed using whole-exome sequencing. Villi from RHMs were collected by laser microdissection for genotyping and DNA methylation assay of differentially methylated regions (DMRs). Single nucleotide polymorphisms of PEG3 and H19 DMRs were used to confirm the parental origin of the variants. Results: A novel homozygous nonsense mutation in NLRP7 (c.584G>A; p.W195X) was identified in 1 patient. Genotyping of one of her molar tissue revealed that it was biparental but not androgenetic in origin. Despite the fact that the RHM is biparental, maternally methylated DMRs of PEG3, SNRPN and PEG10 showed complete loss of DNA methylation. A paternally methylated DMR of H19 retained normal methylation. Conclusions: This is the first Japanese case of RHM with a novel homozygous nonsense NLRP7 mutation and a specific loss of maternal DNA methylation of DMRs. Notably, the mutation was identified in an isolated case of an ethnic background that has not previously been studied in this context. Our data underscore the involvement of NLRP7 in RHM pathophysiology and confirm that DNA methylation of specific regions is critical.

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Section: Introductionmentioning

confidence: 99%

Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole

Ito

Maehara²,

Kaneki

et al. 2015

Gynecol Obstet Invest

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“…Previous lesions such as cesarean section, hysteroscopic surgery of the uterine septum, myomectomy, and cornual resection are considered predisposing factors for uterine rupture [7] . Rare cases of uterine rupture on hydatidiform mole have been described in the literature [8] , [9] .…”

Section: Discussionmentioning

confidence: 99%

Spontaneous uterine rupture during the first trimester of a partial molar pregnancy in a scar uterus: A rare case report

Miski

Benjelloun

Bouab

et al. 2021

International Journal of Surgery Case Reports

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Introduction Spontaneous uterine rupture in the first trimester is a redoubtable obstetric emergency that carries a high risk for both mother and fetus. Cases presentation We present the case of a spontaneous uterine rupture in a patient with a scarred uterus at 9 weeks' gestation treated by laparotomy in emergency obstetrical department of Ibn Rochd University Hospital of Casablanca; whose histological examination of the removed material found a partial mole. Clinical discussion Spontaneous uterine rupture in the first trimester is rare and usually occurs in a scarred or malformed uterus. Clinicians should consider this diagnosis in the presence of an acute abdominal pain in early pregnancy with or without first trimester metrorrhagia. Conclusion Since the rate of uterine surgeries is increasing, it is necessary to highlight the risk of uterine rupture occurring early in order to improve their management. Molar pregnancy is a factor of fragility of the uterine wall and uterine rupture must be suspected in any molar pregnancy associated with a hemoperitoneum.

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“…Complete or partial hydatidiform moles are premalignant conditions that require mandatory evacuation of the uterus [1]. Management with a concomitant live fetus is even more complicated, as there are increased risks of vaginal bleeding, prematurity, intrauterine fetal demise, preeclampsia, hyperthyroidism, ovarian theca lutein cysts, uterine rupture, and malignant degeneration [3,[11][12][13].…”

Section: Discussionmentioning

confidence: 99%

MRI of complete hydatidiform mole with normal hCG and viable intrauterine pregnancy

Weinstein¹,

Ginsberg²,

Reiss³

et al. 2021

J Case Rep Images Obstet Gynecol

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Introduction: Coexistent complete mole with a concomitant live fetus is a rare occurrence. Initially it may be identified by Ultrasound (US). Magnetic resonance imaging (MRI) is a useful alternative to US because MRI depicts the molar mass as separate from the live fetus, its monochorionic monoamniotic gestational sac and normal appearing placenta.Case Report: A rare case of complete hydatidiform mole with concomitant live intrauterine pregnancy and normal level of serum human chorionic gonadotropin (hCG) is reported. Obstetrical US showed an indeterminate multicystic lenticular shaped uterine mass without ovarian theca lutein cysts. Magnetic resonance imaging showed the molar mass as separate from the live fetus within its gestational sac and a normal placenta. Although partial mole was favored because of the normal hormone level, pathology showed a complete mole after delivery of a live fetus. Conclusion:This case highlights the utility of MRI for diagnosis and optimized management if US and clinical findings are indeterminate.

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Uterine Rupture in Twin Pregnancy with Normal Fetus and Complete Hydatidiform Mole

Cited by 10 publications

References 19 publications

Novel Nonsense Mutation in the <b><i>NLRP7</i></b> Gene Associated with Recurrent Hydatidiform Mole

Novel Nonsense Mutation in the <b><i>NLRP7</i></b> Gene Associated with Recurrent Hydatidiform Mole

Spontaneous uterine rupture during the first trimester of a partial molar pregnancy in a scar uterus: A rare case report

MRI of complete hydatidiform mole with normal hCG and viable intrauterine pregnancy

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