The genetics of hydatidiform moles: new lights on an ancient disease

@article{Slim2007TheGO,
  title={The genetics of hydatidiform moles: new lights on an ancient disease},
  author={Rima Slim and A R Mehio},
  journal={Clinical Genetics},
  year={2007},
  volume={71}
}
Hydatidiform mole (HM) is a human pregnancy with no embryo but cystic degeneration of chorionic villi. The common form of this condition occurs in 1 in every 1500 pregnancies in western societies and at a higher incidence in some geographic regions and populations. Recurrent moles account for 2% of all molar cases and a few of them occur in more than one family member. By studying a familial form of recurrent moles, a recessive maternal locus responsible for this condition was mapped to 19q13.4… 

Recurrent hydatidiform moles.

The hydatidiform mole

In countries with poor medical health care system, moles can become invasive or, in rare cases, lead to gestational choriocarcinomas.

MOLAR PREGNANCY

The clinical presentation of CM has changed in the last 2 decades with vaginal bleeding as a common symptom due to earlier diagnosis by first trimester ultrasonography (USG), so histological examination of product of conception is essential for the diagnosis.

Recurrent familial hydatidiform mole - a rare clinical problem.

An unusual case of a gravida 5 aged 29 years, with five recurrent hydatidiform moles and no normal pregnancy, with no viable conceptions in both the sisters is reported.

Live births in women with recurrent hydatidiform mole and two NLRP7 mutations.

Identification of a hydatidiform mole in twin pregnancy following assisted reproduction

A strategy composed of selective clinicopathological screening, immunohistochemical interpretation and accurate genotyping is recommended for diagnostically challenging mixed-genomic POC of potential twin pregnancy with HM, especially to differentiate a non-molar mosaic conception from a partial mole.

The Diagnosis of Choriocarcinoma in Molar Pregnancies: A Revised Approach in Clinical Testing

A revised approach to testing products of conception is necessary, with cases screened according to their clinical history in order to distinguish molar pregnancy referrals from hydropic pregnancies.
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