Abnormal Development - Hydatidiform Mole: Difference between revisions

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* '''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."
* '''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."
* '''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."
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Revision as of 10:33, 1 July 2015

Embryology - 18 Apr 2024    Facebook link Pinterest link Twitter link  Expand to Translate  
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Introduction

Hydatidiform Mole

(hydatiform mole, hydatid mole, molar pregnancy, gestational trophoblastic disease) Another type of abnormality is when only the conceptus trophoblast layers proliferates and not the embryoblast, no embryo develops, this is called a "hydatidiform mole", which is due to the continuing presence of the trophoblastic layer, this abnormal conceptus can also implant in the uterus. 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]


Links: Hydatidiform Mole | Meiosis | Oocyte Development | Week 2 - Abnormalities | Placenta - Abnormalities | Abnormal Development
Historic: 1920 Paper | 1921 Chapter 8. Hydatiform Degeneration in Uterine Pregnancy | Chapter 9. Hydatiform Degeneration in Tubal Pregnancy

Some Recent Findings

  • NLRP7, Involved in Hydatidiform Molar Pregnancy (HYDM1), Interacts with the Transcriptional Repressor ZBTB16[2] "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."
  • Minimally-aggressive gestational trophoblastic neoplasms[3] "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."

Mole Types

Complete mole pathology and multiple fibroids within the uterus.[4]

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

    Transvaginal ultrasound

  • Magnetic resonance image

    Magnetic resonance image

  • Macroscopic image

    Macroscopic image

  • Histology

    Histology

Partial Mole

Ultrasound of partial mole confirmed by triploidy[5]

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:

  1. Stage I: Tumor confined to uterus (non-metastatic)
  2. Stage II: Tumor involving pelvic organs and/or vagina
  3. Stage III: Tumor involving lungs, with or without involving pelvic structures and/or vagina
  4. 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.[6]


Ectopic Molar Pregnancy

Ectopic molar pregnancy 01.jpg

Left-sided unruptured ampullary ectopic pregnancy at laparoscopy.[7]


Links: Ectopic Implantation

References

  1. ↑ <pubmed>10072436</pubmed>
  2. ↑ <pubmed>26121690</pubmed>| PLoS One.
  3. ↑ <pubmed>22198244</pubmed>
  4. ↑ <pubmed>22928132</pubmed>| PMC3424659/ | Case Rep Obstet Gynecol.
  5. ↑ <pubmed>19774194</pubmed>
  6. ↑ <pubmed>18273627</pubmed>
  7. ↑ <pubmed>22655097</pubmed>

Reviews

<pubmed>22085657</pubmed> <pubmed>21293291</pubmed> <pubmed>20367628</pubmed> <pubmed>20673583</pubmed>

Articles

<pubmed></pubmed>

OMIM

Search PubMed

Search PubMed Now: Hydatidiform Mole

Additional Images

Historic Images

  • Meyer (1920) Plate 1

    Meyer (1920) Plate 1

  • Meyer (1920) Plate 2

    Meyer (1920) Plate 2

  • Meyer (1920) Plate 3

    Meyer (1920) Plate 3

  • Meyer (1920) Plate 4

    Meyer (1920) Plate 4

  • Meyer (1920) Plate 5

    Meyer (1920) Plate 5

  • Meyer (1920) Plate 6

    Meyer (1920) Plate 6

  • Mall Meyer (1921) Plate13

    Mall Meyer (1921) Plate13

  • Mall (1917) Fig 2

    Mall (1917) Fig 2


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Cite this page: Hill, M.A. (2024, April 18) Embryology Abnormal Development - Hydatidiform Mole. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Abnormal_Development_-_Hydatidiform_Mole

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