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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Gentagne diploid biparental molae

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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Vis graf over relationer

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.

Bidragets oversatte titelRecurrent diploid biparental mole
OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind181
Udgave nummer33
ISSN0041-5782
StatusUdgivet - 12 aug. 2019

ID: 58250707