Abnormal Development - Hydatidiform Mole: Difference between revisions

Revision as of 12:50, 3 August 2015

Embryology - 16 Apr 2024 Expand to Translate
Google Translate - select your language from the list shown below (this will open a new external page)
العربية \| català \| 中文 \| 中國傳統的 \| français \| Deutsche \| עִברִית \| हिंदी \| bahasa Indonesia \| italiano \| 日本語 \| 한국어 \| မြန်မာ \| Pilipino \| Polskie \| português \| ਪੰਜਾਬੀ ਦੇ \| Română \| русский \| Español \| Swahili \| Svensk \| ไทย \| Türkçe \| اردو \| ייִדיש \| Tiếng Việt These external translations are automated and may not be accurate. (More? About Translations)

Introduction

Hydatidiform Mole

(hydatiform mole, hydatid mole, molar pregnancy, gestational trophoblastic disease) A type of fertilisation abnormality, when only the conceptus trophoblast layers proliferates and not the embryoblast, no embryo develops, this is called a "hydatidiform mole". Due to the continuing presence of the trophoblastic layer, this abnormal conceptus can also implant in the uterus or ectopically. The trophoblast cells will secrete human chorionic gonadotropin (hCG), as in a normal pregnancy, and may appear maternally and by pregnancy test to be "normal". Prenatal diagnosis by ultrasound analysis demonstrates the absence of a embryo.

There are several forms of hydatidiform mole: partial mole, complete mole and persistent gestational trophoblastic tumor. Many of these tumours arise from a haploid sperm fertilizing an egg without a female pronucleus (the alternative form, an embryo without sperm contribution, is called parthenogenesis). The tumour has a "grape-like" placental appearance without enclosed embryo formation. Following a first molar pregnancy, there is approximately a 1% risk of a second molar pregnancy.

The incidence of hydatidiform mole varies between ethnic groups, and typically occurs in 1 in every 1500 pregnancies.
All hydatidiform mole cases are sporadic, except for extremely rare familial cases.
A maternal gene has been identified for recurrent hydatidiform mole (chromosome 19q13.3-13.4 in a 15.2 cM interval flanked by D19S924 and D19S890).^[1]

Historic: 1920 Paper | 1921 Chapter 8. Hydatiform Degeneration in Uterine Pregnancy | Chapter 9. Hydatiform Degeneration in Tubal Pregnancy

Some Recent Findings

Risk of recurrent molar pregnancies following complete and partial hydatidiform moles^[2] "What is the risk of further molar pregnancies for women with one or more hydatidiform moles (HM) in relation to molar subtype. SUMMARY ANSWER: Women with a complete hydatidiform mole (CM) have a 1 in 100 and 1 in 4 risk of further CM after one or two consecutive CM, respectively, while women with a partial hydatidiform mole (PM) have only a small increase in risk for further molar pregnancies. WHAT IS KNOWN ALREADY: Women with a molar pregnancy have an increased risk of further HM. A small subgroup of women with recurrent HM has an autosomal recessive condition, familial recurrent hydatidiform moles (FRHM), that predisposes them to molar pregnancies."
NLRP7, Involved in Hydatidiform Molar Pregnancy (HYDM1), Interacts with the Transcriptional Repressor ZBTB16^[3] "Mutations in the maternal effect gene NLRP7 cause biparental hydatidiform mole (HYDM1). HYDM1 is characterized by abnormal growth of placenta and lack of proper embryonic development. The molar tissues are characterized by abnormal methylation patterns at differentially methylated regions (DMRs) of imprinted genes. It is not known whether this occurs before or after fertilization, but the high specificity of this defect to the maternal allele indicates a possible maternal germ line-specific effect. ...Hence, the biological significance of the NLRP7-ZBTB16 interaction remains to be revealed. However, a clear effect of harvesting ZBTB16 to the cytoplasm when the NLRP7 protein is overexpressed may be linked to the pathology of the molar pregnancy disease." Molecular Development - Epigenetics
Minimally-aggressive gestational trophoblastic neoplasms^[4] "We have previously defined a new syndrome "Minimally-aggressive gestational trophoblastic neoplasms" in which choriocarcinoma or persistent hydatidiform mole has a minimal growth rate and becomes chemorefractory. Previously we described a new treatment protocol, waiting for hCG rise to >3000 mIU/ml and disease becomes more advanced, then using combination chemotherapy. Initially we found this treatment successful in 8 of 8 cases, here we find this protocol appropriate in a further 16 cases. Initially we used hyperglycosylated hCG, a limited availability test, to identify this syndrome. Here we propose also using hCG doubling rate to detect this syndrome."

More recent papers
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link. This search now requires a manual link as the original PubMed extension has been disabled. The displayed list of references do not reflect any editorial selection of material based on content or relevance. References also appear on this list based upon the date of the actual page viewing. References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability. More? References \| Discussion Page \| Journal Searches \| 2019 References \| 2020 References Search term: Hydatidiform Mole <pubmed limit=5>Hydatidiform Mole</pubmed>

Mole Types

Complete mole pathology and multiple fibroids within the uterus.^[5]

Complete Mole

Only paternal chromosomes.

Chromosomal genetic material from the ovum (egg) is lost, by an unknown process.
Fertilization then occurs with one or two sperm and an androgenic (from the male only) conceptus (fertilized egg) is formed.
With this conceptus the embryo (fetus, baby) does not develop at all but the placenta does grow.
placenta it is abnormal and forms lots of cysts and has no blood vessels.
These cysts look like a cluster of grapes and that is why it is called a hydatidiform ("grape-like") mole.
A hydatidiform mole miscarries by about 16 to 18 weeks gestational age.
Since the diagnosis can be made by ultrasound before that time, it is better to have an evacuation of the uterus (D & C) so that there is no undue bleeding and no infection.
Human chorionic gonadotropin (hCG) levels will assist in making the diagnosis.

Transvaginal ultrasound
Magnetic resonance image
Macroscopic image
Histology

Partial Mole

Ultrasound of partial mole confirmed by triploidy^[6]

Three sets of chromosomes instead of the usual two and this is called triploidy.

chromosomal (genetic) material from the ovum (egg) is retained and the egg is fertilized by one or two sperm.
with partial mole there are maternal chromosomes and there is a fetus.
the three sets of chromosomes means the fetus is always grossly abnormal and will not survive.

(Text modified from: International Society for the Study of Trophoblastic Diseases, see also JRM Gestational Trophoblastic Disease)

Tumour Growth

Like any tumour, unless removed there is a risk of progression:

Stage I: Tumor confined to uterus (non-metastatic)
Stage II: Tumor involving pelvic organs and/or vagina
Stage III: Tumor involving lungs, with or without involving pelvic structures and/or vagina
Stage IV: Tumor involving distant organs

Choriocarcinoma

A highly malignant epithelial tumour often associated with hydatidiform mole.

Placental Mesenchymal Dysplasia

A rare disorder due to a similar "grape-like" placental appearance, this rare disorder has been mistaken both clinically and macroscopically for a partial hydatidiform molar pregnancy. Characterized by an increased size placenta with cystic villi and dilated vessels. This disorder also has a high incidence of intrauterine growth restriction (IUGR) and fetal death.

Twin Pregnancy Mole

Hydatidiform mole and co-existent healthy fetus is a very rare condition with only 30 cases documented in detail in the literature.^[7]

Ectopic Molar Pregnancy

Left-sided unruptured ampullary ectopic pregnancy at laparoscopy.^[8]

Links: Ectopic Implantation

References

↑ <pubmed>10072436</pubmed>
↑ <pubmed>26202916</pubmed>
↑ <pubmed>26121690</pubmed>| PLoS One.
↑ <pubmed>22198244</pubmed>
↑ <pubmed>22928132</pubmed>| PMC3424659/ | Case Rep Obstet Gynecol.
↑ <pubmed>19774194</pubmed>
↑ <pubmed>18273627</pubmed>
↑ <pubmed>22655097</pubmed>

Reviews

Articles

OMIM

Search PubMed

Search PubMed Now: Hydatidiform Mole

Additional Images

Historic Images

Historic Disclaimer - information about historic embryology pages
Pages where the terms "Historic" (textbooks, papers, people, recommendations) appear on this site, and sections within pages where this disclaimer appears, indicate that the content and scientific understanding are specific to the time of publication. This means that while some scientific descriptions are still accurate, the terminology and interpretation of the developmental mechanisms reflect the understanding at the time of original publication and those of the preceding periods, these terms, interpretations and recommendations may not reflect our current scientific understanding. (More? Embryology History \| Historic Embryology Papers)

Meyer (1920) Plate 1
Meyer (1920) Plate 2
Meyer (1920) Plate 3
Meyer (1920) Plate 4
Meyer (1920) Plate 5
Meyer (1920) Plate 6
Mall Meyer (1921) Plate13
Mall (1917) Fig 2

External Links

External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.

PubMed Health Hydatidiform mole
International Society for the Study of Trophoblastic Diseases
Sydney Gynaecological Oncology Group Gestational Trophoblastic Disease
The Journal of Reproductive Medicine Gestational Trophoblastic Disease (1998)
Dana-Farber Cancer Institute Gynecologic Oncology Program

Glossary Links

Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link

Cite this page: Hill, M.A. (2024, April 16) Embryology Abnormal Development - Hydatidiform Mole. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Abnormal_Development_-_Hydatidiform_Mole

What Links Here?

[1] <pubmed>10072436</pubmed>

[PMID26202916-2] <pubmed>26202916</pubmed>

[PMID26121690-3] <pubmed>26121690</pubmed>| PLoS One.

[PMID22198244-4] <pubmed>22198244</pubmed>

[5] <pubmed>22928132</pubmed>| PMC3424659/ | Case Rep Obstet Gynecol.

[6] <pubmed>19774194</pubmed>

[7] <pubmed>18273627</pubmed>

[8] <pubmed>22655097</pubmed>

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

@@ Line 22: / Line 22: @@
 |-bgcolor="F5FAFF"
 |
-* '''Risk of recurrent molar pregnancies following complete and partial hydatidiform moles'''<ref name="PMID26202916"><pubmed>26202916</pubmed></ref> "What is the risk of further molar pregnancies for women with one or more hydatidiform moles (HM) in relation to molar subtype. SUMMARY ANSWER: Women with a complete hydatidiform mole (CM) have a 1 in 100 and 1 in 4 risk of further CM after one or two consecutive CM, respectively, while women with a partial hydatidiform mole (PM) have only a small increase in risk for further molar pregnancies. WHAT IS KNOWN ALREADY: Women with a molar pregnancy have an increased risk of further HM. A small subgroup of women with recurrent HM has an autosomal recessive condition, familial recurrent hydatidiform moles (FRHM), that predisposes them to molar pregnancies. STUDY DESIGN, SIZE, DURATION: A retrospective study of subsequent pregnancies in 16 000 women registered at a centralized referral centre, with a CM or PM, between 1990 and 2009. PARTICIPANTS/MATERIALS, SETTING, METHODS: One hundred and sixty-six women with two or more molar pregnancies were identified from electronic records and patient notes. Histopathological features of all molar tissue were reviewed in these cases and genotyping performed where diagnosis was not possible on the basis of histopathological features alone. In addition, genotyping of molar tissue was performed in all cases of women with three or more CM to establish whether the tissue was diploid and biparental or androgenetic. MAIN RESULTS AND THE ROLE OF CHANCE: This study confirms an increased recurrence risk of ∼1% for a second molar pregnancy and in addition that this risk is associated with CM rather than PM. The data further indicate that the risk of a third HM is associated almost exclusively with CM and enabled an estimate that 1 in 640 women registered with a CM has the rare condition FRHM. The study also found that there was no significant difference between the risk of developing gestational trophoblastic neoplasia (GTN) for typical sporadic CM and the diploid biparental CM associated with FRHM (GTN; proportion difference 0.05, Z = 0.87, P = 0.29)."
+* '''Risk of recurrent molar pregnancies following complete and partial hydatidiform moles'''<ref name="PMID26202916"><pubmed>26202916</pubmed></ref> "What is the risk of further molar pregnancies for women with one or more hydatidiform moles (HM) in relation to molar subtype. SUMMARY ANSWER: Women with a complete hydatidiform mole (CM) have a 1 in 100 and 1 in 4 risk of further CM after one or two consecutive CM, respectively, while women with a partial hydatidiform mole (PM) have only a small increase in risk for further molar pregnancies. WHAT IS KNOWN ALREADY: Women with a molar pregnancy have an increased risk of further HM. A small subgroup of women with recurrent HM has an autosomal recessive condition, familial recurrent hydatidiform moles (FRHM), that predisposes them to molar pregnancies."
 * '''NLRP7, Involved in Hydatidiform Molar Pregnancy (HYDM1), Interacts with the Transcriptional Repressor ZBTB16'''<ref name="PMID26121690"><pubmed>26121690</pubmed>| [http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0130416 PLoS One.]</ref> "Mutations in the maternal effect gene NLRP7 cause biparental hydatidiform mole (HYDM1). HYDM1 is characterized by abnormal growth of placenta and lack of proper embryonic development. The molar tissues are characterized by abnormal methylation patterns at differentially methylated regions (DMRs) of imprinted genes. It is not known whether this occurs before or after fertilization, but the high specificity of this defect to the maternal allele indicates a possible maternal germ line-specific effect. ...Hence, the biological significance of the NLRP7-ZBTB16 interaction remains to be revealed. However, a clear effect of harvesting ZBTB16 to the cytoplasm when the NLRP7 protein is overexpressed may be linked to the pathology of the molar pregnancy disease." [[Molecular Development - Epigenetics]]
 * '''Minimally-aggressive gestational trophoblastic neoplasms'''<ref name="PMID22198244"><pubmed>22198244</pubmed></ref> "We have previously defined a new syndrome "Minimally-aggressive gestational trophoblastic neoplasms" in which choriocarcinoma or persistent hydatidiform mole has a minimal growth rate and becomes chemorefractory. Previously we described a new treatment protocol, waiting for hCG rise to >3000 mIU/ml and disease becomes more advanced, then using combination chemotherapy. Initially we found this treatment successful in 8 of 8 cases, here we find this protocol appropriate in a further 16 cases. Initially we used hyperglycosylated hCG, a limited availability test, to identify this syndrome. Here we propose also using hCG doubling rate to detect this syndrome."