Professional Documents
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ABNORMAL PRESENTATION
OF HYDATIDIFORM MOLE
Dr.Manoranjan Mahapatra,
Asst. Prof. (O&G dept.)
VSS Medical College, Burla
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Marching in right direction ------
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The critical dependent path-----
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Right initiation for embryogenesis----
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Other side of coin------
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Salute -----------
‘Hippocrates’- 400 BC
“dropsy of uterus”
Aetius - 1600 AD
– hydatid mole
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GESTATIONAL TROPHOBLASTIC DISEASE(GTD)
• Hydatiform mole
• Invasive mole
• Choriocarcinoma
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Molar Pregnancy
Background
• complete
• partial mole
• Genetic analysis by —
*Chromosomal restriction fragment length
polymorphisim analysis in molar &placental tissues
* locus
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FEATURES OF PARTIAL AND COMPLETE MOLE
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Cohn DE, Herzog TJ. Curr Opin Oncol 2000 Sep; 12(5):492-6
Complete molar pregnancy
• no evidence of a foetus.
• This conceptus is diploid
• androgenetic in origin.
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HYDATIDIFORM MOLE
Incidence
Asian Countries:
Partial mole 1/120
Complete mole 1/350-500
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HYDATIDIFORM MOLE
Risk factors
4. Vitamin A deficiency
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EXPLORATION OF CYTOGENETICS ---
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complete mole ---
Karyotype----
• 90 % - 46,XX karyotype
• 10% - 46,XY karyotype
• 46,YY has never been observed ( non-viable),
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UNIPARENTAL (ANDROGENIC)
CYTOGENETICS OF H.MOLE
Arise as a consequence of
• duplication of the haploid sperm following
fertilisation of an ‘empty’ ovum ( diandry) (Lawler
et al., 1982 ) -- ~80%
• Some complete moles arise after dispermic
fertilisation of an “empty’ ovum. (dispermy)
(Kovacs et al., 1991 ) ~ 20%
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-generation of an empty ovum
-Endoduplication of male pronecleus
-/polyspermy
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COMPLETE MOLE
23X
Complete Mole
(46XX diploid)
DIANDRY
• is not clear,
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Imprinted genetics
• The chr 11p15.5 harbours several genes with a different
imprinting pattern
• p57kip2,
• IPL paternally imprinted or silenced
• H19
• IGF2
• KCNQIOT1 maternally imprinted.
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Chromosome – 11p15.5
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BIPARENTAL COMPLETE MOLE
(imprinting switch)
•
In exceptional cases ( 10 families have been reported) of histologically
typical complete hydatidiform mole, a biparental origin of the
chromosomes has been found (reviewed by Fisher et al., 2004b ).
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• At the DNA level, the signal mediating genomic imprinting is
methylation of CpG residues in specific chromosomal regions
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abnormal methylation of maternally imprinted genes such as KCNQIOT1.
FAULT
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WAY FORWARD THOUGHTS----
• Methylation depends on specific enzymes, DNA
methyltransferases (Dnmt) and these are therefore excellent
candidate genes for the disorder.
• However, so far, no mutations have been reported in these
genes (Hayward et al., 2003 ).
• Meanwhile, as an alternative means to identify the molecular
basis of this autosomal recessive disorder, linkage analysis has
been performed in families with the disorder.
• This has led to the identification of a relatively small region on
chromosome 19q (Moglabey et al., 1999 ; Hodges et al., 2003
• Mutation analysis of candidate genes in this region will
eventually lead to the identification of the underlying gene,
and the elucidation of the pathogenesis of the disorder.
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FOCAL HYDROPIC CHANGES OF DEFECTIVE FETUS WITH
PLACENTA HYDROPIC PLACENTA
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Partial mole
• The partial mole is caused by a triploidy,
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Triploid origin-----
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PARTIAL MOLE (DIANDRY)
23Y 23X
23X
23X
23X 69XXY
23Y
23X
Partial Mole
(69XXY, or 69XXX,
Dyspermy or 69XYY triploid)
23X/23Y or
23X/23X
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Modified from Cheung, 1995
PARTIAL MOLE (DIGYNAE)
2
3Y/
X
23X 23X
23X
69XXY
23X 23Y/
X
46XX
Partial Mole
(69XXY, or 69XXX,
DIPLOID OVUM triploid)
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Modified from Cheung, 1995
Triploidy features-----
✂ mild ventriculomegaly,
✂ micrognathia,
✂ cardiac abnormalities,
✂ myelomeningocoele,
✂ syndactyly,
✂ ‘hitch-hiker’
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deformity.
Mosaic triploidy
*Triploidies are almost lethal, some children carry a triploidy
in only part of their cells, with the remaining cells having the
normal 46 chromosomes. This is called a mosaic triploidy.
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PREECLAMPSIA
Incidence - ~ 27% of complete mole
Provocating factors –
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HYPERTHYROIDISM
alfa subunit of hCG & TSH simulate molecularly
• High hCG ----- high level of free T3 & T4
Menifestations ----
• -supraventricular tachycardia
• Palpitation
• Goitre
• Increased sweating
• Heat intolarance
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Thyroid storm
Hyper thyroidism precipitate by –
Toximia
Infection
Surgery
Anaesthesia
ventricular Tachycardia
Menifestations -
Delirium , convulsion
Hyperthermia
Fibrillation
CVS collapse
Treatment ---- promt tr. With
- Beta blockers ,Anti thyroid medication
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TROPHOBLASTIC EMBOLISATION
• Incidence – 2% of mole
• Features of respiratory insufficiency ---
tachycardia, tachypnea, anxiety, confusion immediately
after the evacuation
• Reasons ---
6. embolisation of molar tissue to pulmonary vasculature
D/D --
• Cardiovascular complication of pre eclampsia
• Thyroid storm
• Massive fluid replacement
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PARTIAL MOLE
Way of encountering----
3- USG –
-- high suspicion in early trimester
--TIFA – anomaly suggesting triploidy /
Placental hydropic changes
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Diagnosis of partial mole (very early stage)
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PARTIAL MOLE
FIRST TRIMESTER DIAGNOSIS
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PARTIAL MOLE - USG – 2nd trimester
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GTD and Twin Pregnancy
1. If there is one viable fetus and the other pregnancy is molar, the
pregnancy could be allowed to proceed if the mother wishes,
following appropriate counselling.
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COMPLETE HYDATIFORM MOLE AND COEXISTING VIABLE FETUS
Outcome !!!
Miscarriage 50%
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SUMMARY -----MISTAKES & PENALTY
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