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

  title={The genetics of hydatidiform moles: new lights on an ancient disease},
  author={Rima Slim and A R Mehio},
  journal={Clinical Genetics},
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.


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.



Genetic mapping of a maternal locus responsible for familial hydatidiform moles.

It is demonstrated that a defective maternal gene is responsible for recurrent hydatidiform mole, which resides on chromosome 19q13.4 and adds new insights into the molecular genetics of early embryogenesis and may be relevant to the large number of patients with sporadic HM.

Molecular genetic analysis of complete hydatidiform moles.

Evidence of a genetic heterogeneity of familial hydatidiform moles.

Mechanism of origin of complete hydatidiform moles

A study of a series of complete moles shows the first alternative to be correct in the majority of cases.

Epidemiology of hydatidiform mole and choriocarcinoma.

Maternal age and history of hydatidiform mole are the only 2 established risk factors, although studies have speculated on risks of oral contraceptives and other exogenous hormones, consanguinity, blood groups, and other factors.

A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution

The data reported here suggest that complete and partial hydatidiform moles are not always separate entities and that women with familial recurrent hyd atidiformmoles are homozygous for an autosomal recessive mutation.

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans

Five mutations in the maternal gene NALP7 in individuals with familial and recurrent HMs are reported, which is the first maternal effect gene identified in humans and is also responsible for recurrent spontaneous abortions, stillbirths and intrauterine growth retardation.

Advances in the epidemiology of gestational trophoblastic disease.

  • J. Palmer
  • Medicine
    The Journal of reproductive medicine
  • 1994
Maternal age and a history of hydatidiform mole have been established as strong risk factors for both hydatodiform mole and choriocarcinoma.

[From human andro- and parthenogenesis (hydatidiform moles and benign ovarian teratomas) to cancer].

  • P. Coullin
  • Biology
    Gynecologie, obstetrique & fertilite
  • 2005
Although these phenomena are complex and heterogeneous, the andro- and parthenogenote conceptuses are particularly interesting models with which to understand developmental disorders and cancerous progression.

Hydatidiform Mole and Fetus With Normal Karyotype: Support of a Separate Entity

The results based on several techniques applied on numerous samples from different tissues render this possibility unlikely, but some of the contradictions between histologic and cytogenetic classifications of hydatidiform mole may be explained by diploid, biparental partial mole, which seems to constitute a separate subgroup within hydatIDiform mole.