2. Hydatidiform mole is a relatively rare condition in which tissue
around a fertilized egg that normally would have developed into the
placenta instead develops as an abnormal cluster of cells. (This is also
called a molar pregnancy.) This grapelike mass forms inside of the
uterus after fertilization instead of a normal embryo. A hydatidiform
mole triggers a positive pregnancy test and in some cases can
become cancerous. (1)
It is a type of gestational trophoblastic disease (GTD), the term is
derived from hydatidiform ("like a bunch of grapes") and mole (from
Latin mola = millstone) (2) (or hydatid mole, mola hydatidosa). (3)
Description
A hydatidiform mole ("hydatid" means "drop of water" and "mole"
means "spot") occurs in about 1 out of every 1,500 ( pregnancies in
the United States. In some parts of Asia, however, the incidence may
be as high as 1 in 200 (1)
Hydatidiform mole is listed as a "rare disease" by the Office of Rare
Diseases (ORD) of the National Institutes of Health (NIH). This
means that hydatidiform mole, or a subtype of hydatidiform mole,
affects less than 200,000 people in the US population (4)
. Molar pregnancies are most likely to occur in younger and older
women (especially over age 45) than in those between ages 20-40.
About 1-2% of the time a woman who has had a molar pregnancy
will have a second one.
A molar pregnancy occurs when cells of the chorionic villi (tiny
projections that attach the placenta to the lining of the uterus) don't
develop correctly. Instead, they turn into watery clusters that can't
support a growing baby. A partial molar pregnancy includes an
abnormal embryo (a fertilized egg that has begun to grow) that does
not survive. In a complete molar pregnancy there is a small cluster of
clear blisters or pouches that don't contain an embryo.
If not removed, about 15% of moles can become cancerous. They
burrow into the wall of the uterus and cause serious bleeding.
Another 5% will develop into fast-growing cancers called
choriocarcinoma. Some of these tumors spread very quickly outside
the uterus in other parts of the body. Fortunately, cancer developing
from these moles is rare and highly curable (4)
Etiology
3. The etiology of this condition is not completely understood. Potential
risk factors may include defects in the egg, abnormalities within
the uterus, or nutritional deficiencies. Women under 20 or over 40
years of age have a higher risk. Other risk factors include diets low
in protein, folic acid, and carotene. The diploid set of sperm-only
DNA means that all chromosomes have sperm-patterned methylation
suppression of genes. This leads to overgrowth of the
syncytiotrophoblast whereas dual egg-patterned methylation leads to
a devotion of resources to the embryo, with an
underdeveloped syncytiotrophoblast. This is considered to be the
result of evolutionary competition with male genes driving for high
investment into the fetus versus female genes driving for resource
restriction to maximize the number of children (2)
Pathophysiology
A mole is characterized by a conceptus
of hyperplastic trophoblastic tissue attached to the placenta. The
conceptus does not contain the inner cell mass (the mass of cells
inside the primordial embryo that will eventually give rise to the
fetus).The hydatidiform mole can be of two types: a complete mole,
in which the abnormal embryonic tissue is derived from the father
only; and a partial mole, in which the abnormal tissue is derived from
both parents. (2)
Complete moles usually occur when an empty ovum is
fertilized by a sperm that then duplicates its own DNA (a
process called androgenesis). This explains why most complete
moles are of the 46, XX genotype. A 46, XY genotype may
occur when 2 sperm (one 23, X and the other 23, Y) fertilize
an empty egg. They grossly resemble a bunch of grapes
("cluster of grapes" or "honeycombed uterus" or "snow-storm").
Their DNA is purely paternal in origin (since all chromosomes
are derived from the sperm), and is diploid (i.e. there are two
copies of every chromosome). Ninety percent are 46, XX, and
10% are 46, XY. In a complete mole, the fetus fails to develop,
thus on gross examination there are no signs of fetal tissue. All
of the chorionic villi are enlarged. The main complication of
the complete mole is a 2% chance of progression to a cancer
called choriocarcinoma .(2)
4. * U/S evaluation
Allows identification of numerous, discrete, anechoic (cystic)
spaces within a central area of heterogeneous echotexture (5)
*Diagnostic Findings/Ultrasonography
Complete hydatidiform mole has a classic sonographic appearance of
a solid collection of echoes with numerous anechoic spaces
(snowstorm appearance). (5)
.
Snow storm ultrasound (hydatidiform mole)
5. *CT
A CT scan usually demonstrates a normal-sized uterus with areas of
low attenuation, an enlarged inhomogeneous uterus with a central
area of low attenuation, or hypoattenuating foci surrounded by highly
enhanced areas in the myometrium.(5)
Complete mole images (2)
6. Another image of complete
mole (2)
Partial moles can occur if a normal haploid ovum is fertilized
by two sperm, or if fertilized by one sperm, if the paternal
chromosomes become duplicated. Thus their DNA is both
maternal and paternal in origin. They can be triploid (e.g. 69
XXX, 69 XXY) or even tetraploid. Fetal parts are often seen on
gross examination. There is also an increased risk of
choriocarcinoma, but the risk is lower than with the complete
mole.
*U/S evaluation, ultrasound has limited value in detecting partial
molar pregnancies. (5)
In partial moles, the placenta is enlarged and contains areas of
multiple, diffuse anechoic lesions
The finding of multiple cystic spaces in the placenta is
suggestive of a partial molar pregnancy.
When there is diagnostic doubt about the possibility of
a combined molar pregnancy with a viable fetus then
ultrasound examination should be repeated before
intervention.
The clues for the sonographer in this diagnosis are the
presence of a fetus (although usually with severe, but
nonspecific, abnormalities) in combination with a formed
placenta containing numerous cystic spaces
7. In twin pregnancies with a viable fetus and a molar pregnancy,
the pregnancy can be allowed to proceed
*twin pregnancies with a viable fetus and a molar pregnancy are
invasive mole A trophoblastic proliferation that penetrates the
myometrium, and may undergo malignant degeneration into a
choriocarcinoma (1)
Simple comparison between complete & partial mole (5)
Partial MoleComplete MoleFeature
PresentAbsentEmbryonic or fetal tissue
FocalDiffuseSwelling of the villi
FocalDiffuseTrophoblastic hyperplasia
Paternal and maternal 69
XXY or 69 XYY
Paternal 46 XX
(96%) or 46 XY
(4%)
Karyotype
Rare5-10%Malignant Changes
Causes and symptoms
The cause of hydatidiform mole is unclear; some experts believe it is
caused by problems with the chromosomes (the structures inside
cells that contain genetic information) in either the egg or sperm, or
both. It may be associated with poor nutrition, or a problem with the
ovaries or the uterus. A mole sometimes can develop from placental
tissue that is left behind in the uterus after
a miscarriage or childbirth.
Women with a hydatidiform mole will have a positive pregnancy test
and often believe they have a normal pregnancy for the first three or
8. four months. However, in these cases the uterus will grow
abnormally fast. By the end of the third month, if not earlier, the
woman will experience vaginal bleeding ranging from scant spotting
to excessive bleeding. She may have hyperthyroidism (overproduction
of thyroid hormones causing symptoms such as weight loss,
increased appetite, and intolerance to heat). Sometimes, the grapelike
cluster of cells itself will be shed with the blood during this time.
Other symptoms may include severe nausea and vomiting and high
blood pressure. As the pregnancy progresses, the fetus will not move
and there will be no fetal heartbeat. (1)
Symptoms (6) (7)
Abnormal growth of the womb (uterus)
o Excessive growth in about half of cases
o Smaller-than-expected growth in about a third of cases
Nausea and vomiting that may be severe enough to require a hospital
stay
Vaginal bleeding in pregnancy during the first 3 months of
pregnancy
Symptoms of hyperthyroidism
o Heat intolerance
o Loose stools
o Rapid heart rate
o Restlessness, nervousness
o Skin warmer and more moist than usual
o Trembling hands
o Unexplained weight loss
Symptoms similar to preeclampsia that occur in the 1st trimester or
early 2nd trimester -- this is almost always a sign of a hydatidiform
mole, because preeclampsia is extremely rare this early in a normal
pregnancy
o High blood pressure
o Swelling in feet, ankles, legs
Follow diagram of predisposing factors (8)
9.
10. Exams and Tests
A pelvic examination may show signs similar to a normal pregnancy,
but the size of the womb may be abnormal and the baby's heart
sounds are absent. There may be some vaginal bleeding.
A pregnancy ultrasound will show an abnormal placenta with or
without some development of a baby. (6)
Tests may include: (7)
HCG blood test
Chest x-ray
CT or MRI of the abdomen
Complete blood count
Blood clotting tests
Kidney and liver function tests
Diagnosis
Molar pregnancies usually present with painless vaginal bleeding in
the fourth to fifth month of pregnancy. The uterus may be larger
than expected, or the ovaries may be enlarged. There may also be
more vomiting than would be expected (hyperemesis). Sometimes
there is an increase in blood pressure along with protein in the urine.
Blood tests will show very high levels of human chorionic
gonadotropin (hCG). (2)
The diagnosis is strongly suggested by ultrasound (sonogram), but
definitive diagnosis requires histopathological examination.
Sometimes symptoms of hyperthyroidism are seen, due to the
extremely high levels of hCG, which can mimic the normal Thyroid-
stimulating hormone (TSH). (3)
Misdiagnosis and Hydatidiform mole (9)
*Unnecessary hysterectomies due to undiagnosed bleeding disorder
in women: e.g. bleeding disorder called Von Willebrand's disease is
quite common.
11. *Chronic digestive conditions often misdiagnosed: When diagnosing
chronic symptoms of the digestive tract, there are a variety of
conditions that may be misdiagnosed; the best known e.g. irritable
bowel dis.
*Intestinal bacteria disorder may be hidden cause: One of the lesser
known causes of diarrheais an imbalance of bacterial in the gut,
sometimes called intestinal imbalance.
*Antibiotics often causes diarrhea: The use of antibiotics are very
likely to cause some level of diarrhea in patients.
*Food poisoning may actually be an infectious disease: Many people
who come down with "stomach symptoms".
*Mesenteric adenitis misdiagnosed as appendicitis in children:
Because appendicitis is one of the more feared conditions for a child
with abdominal pain, it can be over-diagnosed.
*Rare type of breast cancer without a lump: There is a less common
form of breast cancer called inflammatory breast cancer. Its
symptoms can be an inflammation of the breast tissue
*Spitz nevi misdiagnosed as dangerous melanoma skin cancer: One
possible misdiagnosis to consider in lieu of melanoma is spitz nevi.
*Psoriasis often undiagnosed cause of skin symptoms in children:
Children who suffer from the skin disorder called psoriasis can
often go undiagnosed.
*Celiac disease often fails to be diagnosed cause of chronic digestive
symptoms, undiagnosed celiac disease in pregnancy harms fetus
12. *Chronic digestive diseases hard to diagnose: There is an inherent
difficulty in diagnosing the various types of chronic digestive
diseases.
*Misdiagnosed weight-related causes of infertility: A woman's
weight status can affect her level of fertility.
Treatment
Hydatidiform moles should be treated by evacuating the uterus by
uterine suction or by surgical curettage as soon as possible after
diagnosis, in order to avoid the risks of choriocarcinoma. Patients are
followed up until their serum human chorionic gonadotropin (hCG)
level has fallen to an undetectable level. Invasive or metastatic moles
(cancer) may require chemotherapy and often respond well
to methotrexate. The response to treatment is nearly 100%. (2)
Patients are advised not to conceive for one year after a molar
pregnancy. The chances of having another molar pregnancy are
approximately 1%.
Management is more complicated when the mole occurs together
with one or more normal fetuses.Carboprost medication may be used
to contract the uterus. (3)
Prognosis
More than 80% of hydatidiform moles are benign. The outcome after
treatment is usually excellent. Close follow-up is essential. Highly
effective means of contraception are recommended to avoid
pregnancy for at least 6 to 12 months.
In 10 to 15% of cases, hydatidiform moles may develop into invasive
moles. This condition is named persistent trophoblastic
disease (PTD). The moles may intrude so far into the uterine wall
that hemorrhage or other complications develop. It is for this reason
that a post-operative full abdominal and chest x-ray will often be
requested.
In 2 to 3% of cases, hydatidiform moles may develop
into choriocarcinoma, which is a malignant, rapidly-growing,
and metastatic (spreading) form of cancer. Despite these factors
13. which normally indicate a poor prognosis, the rate of cure after
treatment with chemotherapy is high.
Over 90% of women with malignant, non-spreading cancer are able
to survive and retain their ability to conceive and bear children. In
those with metastatic (spreading) cancer, remission remains at 75 to
85%, although their childbearing ability is usually lost. (3)
Possible Complications
Lung problems may occur after a D and C if the woman's uterus is
bigger than 16 weeks gestational size. (6)
Other complications related to the surgery to remove a molar
pregnancy include: (7)
Preeclampsia
Thyroid problems
References
(1) Definition of hydatidiform mole in the Medical dictionary - by the
Free Online Medical Dictionary, Thesaurus and Encyclopedia.htm
http://www.thefreedictionary.com/
(2) http://www.wikidoc.org/index.php/File:Mole _Hyd.jpg
(3) http://wikimediafoundation.org/
Hydatidiform mole - Wikipedia, the free encyclopedia.htm
(4) Source - National Institutes of Health (NIH)
http://www.rightdiagnosis.com/
(5)Grade C recommendation
Dr. MOHAMMED ABDALLA
EGYPT, DOMIAT G. HOSPITAL
14. VesicularMole-abdalla.pptx
(6) http://www.nlm.nih.gov/medlineplus/medline plus.html
A service of the U.S.
National Library of Medicine
National Institutes of Health
(7) http://health.nytimes.com/health/guides/ index .html
Friday, May 4, 2012 Thursday, May 3, 2012
Health Guide
(8) http://nursingdepartment.blogspot.com/
(9)Hydatidiform mole: Related Patient Stories