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Related Experiment Video

Updated: Jan 19, 2026

Making Gynogenetic Diploid Zebrafish by Early Pressure
12:40

Making Gynogenetic Diploid Zebrafish by Early Pressure

Published on: June 30, 2009

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[Recurrent diploid biparental mole].

Sedrah Arif Butt1, Louise Kelstrup, Marianne Lidang

  • 1sedrah_butt@hotmail.com.

Ugeskrift for Laeger
|September 10, 2019
PubMed
Summary
This summary is machine-generated.

Recurrent biparental hydatidiform moles are caused by genetic variants in NLRP7 or KHDC3L. Oocyte donation offers a successful pregnancy option for affected women, potentially saving time and fertility treatment costs.

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Area of Science:

  • Genetics
  • Reproductive Biology
  • Maternal Health

Background:

  • Recurrent diploid biparental hydatidiform mole is a rare genetic disorder.
  • Pathogenic variants in NLRP7 or KHDC3L genes are linked to maternal imprinting defects causing this condition.

Purpose of the Study:

  • To review current knowledge on recurrent diploid biparental hydatidiform mole.
  • To highlight genetic causes and potential reproductive solutions.

Main Methods:

  • Literature review of genetic conditions and reproductive outcomes.
  • Analysis of pathogenic variants in NLRP7 and KHDC3L genes.

Main Results:

  • Biallelic inactivation of NLRP7 is associated with recurrent hydatidiform moles.
  • Oocyte donation has proven successful for women with NLRP7 biallelic inactivation.
  • Similar success is anticipated for women with KHDC3L biallelic inactivation.

Conclusions:

  • Identifying genetic causes like NLRP7 and KHDC3L variants is crucial for managing recurrent hydatidiform moles.
  • Oocyte donation presents a viable pathway to normal pregnancy for affected women.
  • Early diagnosis can prevent prolonged fertility treatments and reduce associated expenses.