Gentagne diploid biparental molae

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

Gentagne diploid biparental molae

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

Abstract

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 titel	Recurrent diploid biparental mole
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Laeger
Vol/bind	181
Udgave nummer	33
Sider (fra-til)	V02190144
ISSN	0041-5782
Status	Udgivet - 12 aug. 2019

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https://ugeskriftet.dk/videnskab/gentagne-diploid-biparental-molae

Citationsformater

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abstract = "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.",

author = "Butt, {Sedrah Arif} and Louise Kelstrup and Marianne Lidang and Mette Bertelsen and Karen Ejrn{\ae}s and Lone Sunde and Perin, {Trine Lunde}",

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TY - JOUR

T1 - Gentagne diploid biparental molae

AU - Butt, Sedrah Arif

AU - Kelstrup, Louise

AU - Lidang, Marianne

AU - Bertelsen, Mette

AU - Ejrnæs, Karen

AU - Sunde, Lone

AU - Perin, Trine Lunde

PY - 2019/8/12

Y1 - 2019/8/12

N2 - 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.

AB - 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.

M3 - Tidsskriftartikel

C2 - 31495354

SN - 0041-5782

VL - 181

SP - V02190144

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 33

ER -

Gentagne diploid biparental molae

Abstract

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