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Gentagne diploid biparental molae

Sedrah Arif Butt1, Louise Kelstrup2, Marianne Lidang3, Mette Bertelsen4, Karen Ejrnæs3, Lone Sunde5 & Trine Lunde Perin1
1) Gynækologisk-Obstetrisk Afdeling, Herlev og Gentofte Hospital 2) Gynækologisk-Obstetrisk Afdeling, Amager-Hvidovre Hospital 3) Patologiafdelingen, Herlev og Gentofte Hospital 4) Klinisk Genetisk Klinik, Kennedy Centret 5) Klinisk Genetisk Afdeling, Aarhus Universitetshospital

Ugeskr Læger 2019;181:V02190144

Ugeskr Læger 2019;181:V02190144

Sedrah Arif Butt, Louise Kelstrup, Marianne Lidang,
Mette Bertelsen, Karen Ejrnæs, Lone Sunde & Trine Lunde Perin:

Recurrent diploid biparental mole

Ugeskr Læger 2019;181:V02190144

This review summarises the knowledge of recurrent diploid biparental hydatidiform mole, which is a rare genetic condition. Pathogenic variants in both alleles of NLRP7 or KHDC3L are associated with maternal imprinting defects and can cause the condition. Women with biallelic inactivation of NLRP7 can achieve a normal pregnancy by oocyte donation, and it is highly likely, that this applies to women with biallelic inactivation of KHDCL3 as well. Identifying the cause of the recurrent moles can prevent that couples waist time and possibly reduce medical expenses related to fertility treatment.

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