Ciąża poroniona – Patofizjologia i mechanizm

Ciąża poroniona
Patofizjologia i mechanizm

Ciąża poroniona (hydatidiform mole) jest zaburzeniem trofoblastycznym charakteryzującym się nieprawidłowym zapłodnieniem prowadzącym do nadmiernej proliferacji trofoblastu i obrzęku kosmków łożyskowych. Wyróżnia się dwie formy: całkowitą (diploidalna, kariotyp 46,XX lub 46,XY, całkowicie androgeniczna) oraz częściową (triploidalna, najczęściej 69,XXY, z obecnością tkanki płodowej). Całkowita ciąża poroniona cechuje się brakiem naczyń krwionośnych w kosmkach, wyraźną hiperplazją trofoblastu i brakiem ekspresji p57, co wiąże się z większym ryzykiem progresji do inwazyjnego zaśniada i raka kosmówki. Częściowa ciąża poroniona wykazuje ogniskową hiperplazję trofoblastyczną z łagodną atypią, obecność funkcjonującego krążenia kosmkowego oraz ekspresję p57, a ryzyko przetrwałej choroby trofoblastycznej (GTD) wynosi 0,5-5%, podczas gdy w całkowitych ciążach poronionych jest to 15-20%.

Patogeneza ciąży poronionej

Genetyczne podłoże ciąży poronionej
Typy ciąży poronionej
Mechanizmy molekularne
Rola imprintingu genetycznego

Potencjał nowotworowy ciąży poronionej
Patomechanizmy objawów klinicznych
Różnice w patomechanizmie między typami ciąży poronionej
Czynniki ryzyka i predyspozycje
Implikacje kliniczne patomechanizmu
Kierunki badań nad patomechanizmem ciąży poronionej
Podsumowanie patomechanizmu ciąży poronionej

Kolejne rozdziały

Patogeneza ciąży poronionej

Ciąża poroniona (hydatidiform mole) to rzadkie zaburzenie ciążowe klasyfikowane jako część grupy chorób trofoblastycznych ciążowych (gestational trophoblastic disease, GTD), które pochodzą z łożyska i mogą rozprzestrzeniać się na inne obszary. Jest to stan charakteryzujący się nieprawidłowym zapłodnieniem, prowadzącym do wodniaka kosmków i hiperplazji trofoblastu z możliwością rozwoju zarodkowego lub bez niego.¹²

Wspólną cechą patologiczną ciąży poronionej jest nadmierna proliferacja trofoblastu oraz kosmki łożyskowe stające się obrzęknięte, tworzące struktury wodniakowe. Chociaż ciąża poroniona jest uważana za łagodną, należy pamiętać, że są to zmiany przednowotworowe i mogą potencjalnie stać się złośliwe i inwazyjne.¹³

Genetyczne podłoże ciąży poronionej

Ciąża poroniona powstaje w wyniku nieprawidłowego zapłodnienia komórki jajowej przez plemnik. W normalnej ciąży zarodek powstaje z 23 chromosomów matczynych i 23 chromosomów ojcowskich.⁴ W przypadku ciąży poronionej dochodzi do nieprawidłowości w liczbie chromosomów podczas zapłodnienia, co prowadzi do nierównowagi materiału genetycznego.⁵

Nadreprezentacja genomu ojcowskiego w sporadycznych ciążach poronionych jest fundamentalnym zdarzeniem genetycznym prowadzącym do ogólnej zmiany ekspresji genów imprintingowanych w trofoblaście zaśniadowym, będąc całkowicie androgenicznym w przypadku całkowitej ciąży poronionej i diandrycznie triploidalnym w przypadku częściowej ciąży poronionej.¹⁶

Typy ciąży poronionej

Ciąża poroniona może być całkowita (complete hydatidiform mole) lub częściowa (partial hydatidiform mole). Różnią się one pod względem genetycznym, rozwojowym oraz ryzykiem powikłań.⁷

Całkowita ciąża poroniona

Całkowita ciąża poroniona powstaje, gdy komórka jajowa bez chromosomów matczynych jest zapładniana przez plemnik. Chromosomy matczyne są albo utracone, albo nie funkcjonują, a chromosomy ojcowskie ulegają powieleniu.⁸ W około 90% przypadków całkowitej ciąży poronionej kariotyp to 46,XX, a w pozostałych 10% – 46,XY.⁹

Możliwe mechanizmy powstawania całkowitej ciąży poronionej obejmują:

Zapłodnienie „pustej” komórki jajowej (pozbawionej jądra) przez pojedynczy plemnik, po którym następuje duplikacja chromosomów/genów ojcowskich (endoreduplikacja) – występuje w około 80% przypadków¹⁰¹¹
Zapłodnienie „pustej” komórki jajowej przez dwa plemniki (dispermia) – występuje w około 10% przypadków¹²¹³

Całkowita ciąża poroniona charakteryzuje się brakiem tkanki płodowej, wczesnym i jednolitym powiększeniem wodniakowym kosmków oraz hiperplazją trofoblastu o różnym stopniu atypii. W kosmkach brak jest naczyń krwionośnych.¹³¹⁴

Częściowa ciąża poroniona

Częściowa ciąża poroniona powstaje, gdy normalna komórka jajowa zostaje zapłodniona przez dwa plemniki lub przez plemnik, którego chromosomy nie zostały zredukowane.¹⁵ Prowadzi to do triploidii – zarodek ma 69 chromosomów zamiast normalnych 46.¹⁶

Częściowa ciąża poroniona jest prawie zawsze triploidalna, najczęściej o kariotypie 69,XXY (70% przypadków), następnie 69,XXX (27%) i 69,XYY (3%).¹⁴⁹

W przeciwieństwie do całkowitej ciąży poronionej, w częściowej ciąży poronionej można zidentyfikować tkankę płodową lub zarodkową, kosmki łożyskowe mają różną wielkość i kształt z ogniskowym obrzękiem, wykazują typowe zazębienie i prominentne inkluzje podścieliska, funkcjonujące krążenie kosmkowe, a także ogniskową hiperplazję trofoblastyczną z jedynie łagodną atypią.¹³

Mechanizmy molekularne

Zwiększona proliferacja trofoblastyczna jest związana z podwyższoną ekspresją receptora czynnika wzrostu śródbłonka w komórkach trofoblastycznych.¹⁷ Brak ekspresji p57 (inhibitora kinazy zależnej od cykliny) z powodu androgenicznego pochodzenia całkowitych zaśniadów wyjaśnia zwiększoną proliferację trofoblastyczną i podścieliskową oraz potencjał inwazyjny.¹⁷¹⁸

Badania wykazały, że w komórkach zrębu kosmków w ciążach poronionych występuje zwiększona ekspresja markera Twist-1, który jest regulatorem transkrypcyjnym odgrywającym rolę w tkankach pochodzenia mezodermalnego. Ta zwiększona ekspresja może wskazywać na dodatkowy mechanizm patogenetyczny odpowiedzialny za bardziej agresywny charakter komórek zrębu kosmków w całkowitych ciążach poronionych.¹⁹²⁰

W przypadku rodzinnych nawracających ciąż poronionych zidentyfikowano mutacje w genach: NLRP7 (chromosom 19q13.4) i KHDC3L (chromosom 6q1), które prowadzą do nieprawidłowej metylacji imprintingowanych genów matczynych.⁶¹³ Mutacje germinalne w tych genach obserwuje się u 48-80% (NLRP7) i 10-14% (KHDC3L) pacjentek z nawracającymi zaśniadami.¹⁸

Rola imprintingu genetycznego

Diploidalny zestaw DNA pochodzącego wyłącznie od ojca oznacza, że wszystkie chromosomy mają ojcowski wzór metylacji i supresji genów. Prowadzi to do nadmiernego rozrostu syncytiotrofoblastu, podczas gdy podwójna matczyna metylacja powoduje skierowanie zasobów do zarodka, z niedorozwiniętym syncytiotrofoblastem.¹⁰

W przypadku dwurodzicielskich całkowitych ciąż poronionych (biparental complete mole), które są rzadkie, obecne są geny zarówno matczyne, jak i ojcowskie, ale niepowodzenie imprintingu matczynego powoduje, że ekspresji ulega tylko genom ojcowski.⁹

Potencjał nowotworowy ciąży poronionej

Chociaż ciąże poronione są uważane za łagodne, mogą potencjalnie stać się złośliwe i inwazyjne. W porównaniu z częściowymi ciążami poronionymi, całkowite ciąże poronione mają większe ryzyko rozwinięcia się zarówno w inwazyjnego zaśniada, jak i raka kosmówki (choriocarcinoma).¹⁷²¹

Po usunięciu ciąży poronionej, w około 15-20% przypadków całkowitych ciąż poronionych i 0,5-5% częściowych ciąż poronionych, tkanka trofoblastyczna może utrzymywać się, prowadząc do przetrwałej choroby trofoblastycznej ciążowej (persistent gestational trophoblastic disease, GTD), znanej również jako ciążowa choroba trofoblastyczna (gestational trophoblastic neoplasia, GTN).²²¹⁴

Nowotwory trofoblastyczne ciążowe (GTN) obejmują:²³

Inwazyjnego zaśniada (invasive mole) – wrastającego w mięśniówkę macicy
Raka kosmówki (choriocarcinoma) – agresywną formę nowotworową mogącą przerzutować do innych narządów
Guz trofoblastyczny miejsca łożyskowego (placental site trophoblastic tumor, PSTT)

Ryzyko złośliwej transformacji ciąży poronionej jest związane z typem ciąży – diploidalne całkowite ciąże poronione mają większe prawdopodobieństwo progresji do raka kosmówki, podczas gdy triploidalne częściowe ciąże poronione rzadko ulegają złośliwej transformacji.²⁴

Patomechanizmy objawów klinicznych

Ciąże poronione są zwykle związane ze znacznie podwyższonymi poziomami hCG (ludzkiej gonadotropiny kosmówkowej) w porównaniu do normalnej ciąży.²⁵ Wysoki poziom hCG jest odpowiedzialny za wiele objawów klinicznych.²⁶

Powiększenie macicy ponad oczekiwany wiek ciążowy, torbiele tekaluteinowe, oraz powikłania medyczne ciąży poronionej, takie jak nadciśnienie indukowane ciążą, nadczynność tarczycy, niedokrwistość, niewydolność oddechowa i wymioty ciężarnych częściej dotyczą pacjentek z całkowitymi ciążami poronionymi zdiagnozowanymi w późniejszym etapie ciąży.²⁷

Istnieje związek między ciążą poronioną a zaburzeniami hipertensyjnymi ciąży, prawdopodobnie poprzez wspólne powiązanie etiologiczne związane z resztkami trofoblastu i nierównowagą czynników angiogennych prowadzącą do uszkodzenia śródbłonka.²⁸²⁹

Wykazano, że resztki trofoblastyczne z ciąż poronionych wywołują aktywację komórek śródbłonka poprzez białko szoku cieplnego 70 (HSP70) wyrażone na łożysku zaśniadowym, co może być sygnałem patogennym dla komórek śródbłonka.²⁹

Różnice w patomechanizmie między typami ciąży poronionej

Cecha	Całkowita ciąża poroniona	Częściowa ciąża poroniona
Kariotyp	46,XX (90%) lub 46,XY (10%)	69,XXY (70%), 69,XXX (27%), 69,XYY (3%)
Pochodzenie genetyczne	Całkowicie androgeniczne – wszystkie chromosomy pochodzenia ojcowskiego	Diandrycznie triploidalne – jeden zestaw chromosomów matczynych i dwa zestawy ojcowskich
Mechanizm powstania	Zapłodnienie „pustej” komórki jajowej przez jeden plemnik z duplikacją (80%) lub dwa plemniki (10%)	Zapłodnienie normalnej komórki jajowej przez dwa plemniki
Obecność płodu	Brak płodu lub tkanki zarodkowej	Może występować nieprawidłowo rozwinięty płód
Zmiany w kosmkach	Wczesne i jednolite powiększenie wodniakowe, brak naczyń krwionośnych	Kosmki o różnej wielkości i kształcie, funkcjonujące krążenie kosmkowe
Proliferacja trofoblastu	Wyraźna hiperplazja z różnym stopniem atypii	Ogniskowa hiperplazja z łagodną atypią
Ryzyko przetrwałej GTN	15-20%	0,5-5%
Ekspresja p57	Brak (gen imprintingowany matcznie)	Obecna
Ryzyko transformacji nowotworowej	Wyższe	Niższe

Tabela powyżej przedstawia główne różnice w patomechanizmie między całkowitą a częściową ciążą poronioną.¹⁴⁶³⁰

Czynniki ryzyka i predyspozycje

Chociaż dokładna przyczyna ciąży poronionej pozostaje nieznana, zidentyfikowano kilka czynników ryzyka:¹¹²²

Wiek matki – skrajne przedziały wieku reprodukcyjnego (poniżej 20 lub powyżej 40 lat) stanowią czynnik ryzyka
Pochodzenie etniczne – ciąże poronione są dwukrotnie częstsze u osób pochodzenia azjatyckiego w porównaniu do osób nie-azjatyckich
Historia wcześniejszej ciąży poronionej – kobiety, które doświadczyły jednej ciąży poronionej, mają 4-5 razy większe ryzyko rozwoju kolejnej
Czynniki genetyczne – mutacje genowe NLRP7 i KHDC3L odpowiadają za 60% nawracających ciąż poronionych
Grupa krwi – niektóre badania sugerują zwiększone ryzyko u kobiet z grupą krwi A zamężnych z mężczyznami o grupie krwi O
Dieta – niska zawartość białka lub witaminy A

Badania sugerują, że rodzinne biparentalne ciąże poronione (FBHM) są dziedziczone w sposób autosomalny recesywny, z defektywnym locus zlokalizowanym na 19q13.4. Ta nieprawidłowość została zlokalizowana w pojedynczym genie – NLRP7, który jest pierwszym zidentyfikowanym defektem genowym wywołującym ciążę poronioną.³¹

Implikacje kliniczne patomechanizmu

Zrozumienie patomechanizmu ciąży poronionej ma istotne konsekwencje dla diagnozy, leczenia i monitorowania pacjentek.²⁴

Diagnostyka histopatologiczna opiera się na identyfikacji charakterystycznych cech morfologicznych, jednak w niektórych przypadkach konieczne jest zastosowanie technik pomocniczych, takich jak immunohistochemia (np. p57), analiza ploidii i genotypowanie molekularne.³²³³

Monitorowanie poziomu hCG po ewakuacji ciąży poronionej jest kluczowe dla wykrycia przetrwałej choroby trofoblastycznej. Decyzja o rozpoczęciu leczenia jest zazwyczaj podejmowana na podstawie wzorca poziomów hCG po ewakuacji.³⁴

W przypadku przetrwałej choroby trofoblastycznej po ciąży poronionej istnieją trzy możliwości leczenia:³⁴

Chemioterapia – najczęściej stosowana, zazwyczaj schemat z metotreksatem i kwasem folinowym
Druga ewakuacja macicy w celu fizycznego usunięcia pozostałej choroby
Histerektomia – rzadko stosowana

Ryzyko progresji do inwazyjnego zaśniada zależy od typu początkowej ciąży poronionej, a inwazyjne zaśniady mogą infiltrować miometrium, zwiększając ryzyko perforacji macicy, krwotoku wewnątrzotrzewnowego lub infekcji.³⁵

Po przebytej ciąży poronionej wskazana jest antykoncepcja przez 6-12 miesięcy, aby umożliwić dokładne badania kontrolne i upewnić się, że nieprawidłowa tkanka nie odrasta. Kobiety, które zachodzą w ciążę zbyt szybko po ciąży poronionej, są narażone na wysokie ryzyko ponownej ciąży poronionej.³⁶

Kierunki badań nad patomechanizmem ciąży poronionej

Obecne badania nad patomechanizmem ciąży poronionej koncentrują się na kilku obszarach:²⁹³⁷

Lepsze zrozumienie mechanizmów molekularnych leżących u podstaw nieprawidłowego zapłodnienia
Badanie roli czynników środowiskowych w indukowaniu ciąży poronionej
Poszukiwanie biomarkerów predykcyjnych dla rozwoju przetrwałej choroby trofoblastycznej
Optymalizacja protokołów leczenia chemioterapeutycznego
Badanie potencjalnej roli immunoterapii w leczeniu ciążowej choroby trofoblastycznej
Identyfikacja powiązań między ciążą poronioną a zaburzeniami hipertensyjnymi ciąży

Badania sugerują możliwy związek między zawodem męża a ciążą poronioną, w szczególności rolę gleby i pyłu, co wskazuje na potencjalny wpływ czynników środowiskowych na gonady i komórki rozrodcze, które mogą z kolei prowadzić do nieprawidłowego zapłodnienia.³⁸

Podsumowanie patomechanizmu ciąży poronionej

Ciąża poroniona powstaje w wyniku nieprawidłowego zapłodnienia prowadzącego do nierównowagi materiału genetycznego. W całkowitej ciąży poronionej, genom jest całkowicie androgeniczny (ojcowski), podczas gdy w częściowej ciąży poronionej występuje triploidiia (jeden zestaw chromosomów matczynych i dwa ojcowskie).⁶

Nadreprezentacja genomu ojcowskiego prowadzi do zmiany ekspresji genów imprintingowanych w trofoblaście, powodując nadmierną proliferację trofoblastu i obrzęk kosmków łożyskowych. Zwiększona ekspresja receptora czynnika wzrostu śródbłonka i brak ekspresji p57 przyczyniają się do zwiększonej proliferacji komórek i potencjału inwazyjnego.¹⁷²¹

Chociaż ciąże poronione są łagodne, mogą prowadzić do przetrwałej choroby trofoblastycznej wymagającej dalszego leczenia. Ryzyko to jest wyższe w przypadku całkowitych ciąż poronionych (15-20%) niż częściowych (0,5-5%).²²

Zrozumienie patomechanizmu ciąży poronionej ma kluczowe znaczenie dla prawidłowej diagnozy, leczenia i monitorowania, a także dla przewidywania i zapobiegania potencjalnym powikłaniom. Dalsze badania w tym obszarze mogą prowadzić do opracowania lepszych strategii diagnostycznych i terapeutycznych dla pacjentek dotkniętych tym schorzeniem.²⁴³⁹

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Materiały źródłowe

#1 Hydatidiform Mole – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK459155/
A hydatidiform mole, or molar pregnancy, is a rare abnormal pregnancy classified under gestational trophoblastic diseases that originate in the placenta and may spread to other areas. […] Hydatidiform moles are characterized by abnormal fertilization, resulting in villous hydrops and trophoblastic hyperplasia with or without embryonic development. […] Overrepresentation of the paternal genome in sporadic hydatidiform moles is a fundamental genetic event leading to overall alteration of imprinting gene expression in the molar trophoblast, being completely androgenetic in complete hydatidiform moles and diandric triploid in partial hydatidiform moles. […] However, although hydatidiform moles are considered benign, they are premalignant lesions and can potentially become malignant and invasive.
#2 Hydatidiform Mole | Treatment & Management | Point of Care
https://www.statpearls.com/point-of-care/23062
Hydatidiform moles are characterized by abnormal fertilization, resulting in villous hydrops and trophoblastic hyperplasia with or without embryonic development. […] Overrepresentation of the paternal genome in sporadic hydatidiform moles is a fundamental genetic event leading to overall alteration of imprinting gene expression in the molar trophoblast, being completely androgenetic in complete hydatidiform moles and diandric triploid in partial hydatidiform moles. […] A complete mole results from the fertilization of an empty ovum by 1 or 2 sperms, resulting in paternally-derived haploid genetic material. […] Therefore, a complete mole comprises solely maternally derived mitochondrial DNA, while all its nuclear DNA originates paternally. […] Conversely, a partial mole arises when a viable ovum is fertilized by 2 or more sperms, with resultant karyotype 69,XXY.
#3 What is molar pregnancy? | Gestational trophoblastic disease (GTD) | Cancer Research UK
https://www.cancerresearchuk.org/about-cancer/gestational-trophoblastic-disease-gtd/molar-pregnancy/about
Molar pregnancy is one of a group of conditions known as gestational trophoblastic disease (GTD). […] It happens when the fertilisation of the egg by the sperm goes wrong. This leads to the growth of abnormal cells or clusters of water filled sacs inside the womb. […] Molar pregnancies are not cancer (they are benign). But there is a very small risk that the molar cells could become cancerous if they are not all removed. […] In a molar pregnancy the fertilisation of the egg by the sperm goes wrong and creates abnormal cells or clusters of water filled sacs inside the womb. Molar pregnancies are not cancer (they are benign). […] Gestational trophoblastic disease (GTD) is a group of rare tumours that start in the cells that would normally develop into the placenta during pregnancy. Abnormal cells grow inside the womb but they are different to womb cancer.
#4 Gestational Trophoblastic Disease – Partial – Complete Mole – TeachMeObGyn
https://teachmeobgyn.com/pregnancy/early/gestational-trophoblastic-disease/
In normal conception, the fetus is formed from 23 maternal chromosomes and 23 paternal chromosomes. A molar pregnancy arises from an abnormality in chromosomal number during fertilisation: […] Partial molar pregnancy where one ovum with 23 chromosomes is fertilised by two sperm, each with 23 chromosomes. This produces cells with 69 chromosomes (triploidy). […] Complete molar pregnancy where one ovum without any chromosomes is fertilised by one sperm which duplicates, or (less commonly) two different sperm. This leads to 46 chromosomes of paternal origin alone. […] These tumours are usually benign, but can become malignant invading into the uterine myometrium, and disseminating around the body. These are known as invasive moles.
#5 Molar Pregnancy: Types, Symptoms, Causes & Treatments
https://my.clevelandclinic.org/health/diseases/17889-molar-pregnancy
A molar pregnancy occurs when an egg and sperm join incorrectly at fertilization and create a noncancerous tumor. The tumor looks like tiny water-filled sacs, similar to a cluster of grapes. The tumor cant support a developing embryo and the pregnancy ends. […] Molar pregnancies are caused by genetic errors that occur during the fertilization of an egg by a sperm. In a typical pregnancy, an embryo gets one set of chromosomes (23) from each parent for a total of 46 chromosomes. Chromosomes are structures that contain genes. […] Molar pregnancies contain an imbalance of chromosomes. In a complete molar pregnancy, the egg contains no chromosomes. The embryo gets 23 chromosomes from the sperm. In a partial molar pregnancy, an egg is fertilized by two sperm. This results in the embryo having 69 chromosomes. […] This genetic error leads to an unsuccessful pregnancy.
#6 Gestational Trophoblastic Disease: Complete versus Partial Hydatidiform Moles
https://www.mdpi.com/2079-9721/12/7/159
Hydatidiform moles, including both complete and partial moles, constitute a subset of gestational trophoblastic diseases characterized by abnormal fertilization resulting in villous hydrops and trophoblastic hyperplasia with or without embryonic development. This involves chromosomal abnormalities, where one or two sperms fertilize an empty oocyte (complete hydatidiform mole (CHM); mostly 46,XX) or two sperms fertilize one oocyte (partial hydatidiform mole (PHM); mostly 69,XXY). Notably, recurrent occurrences are associated with abnormal genomic imprinting of maternal effect genes such as NLRP7 (chromosome 19q13.4) and KHDC3L (chromosome 6q1). […] Hydatidiform moles can be influenced by genetic and chromosomal abnormalities, distinguishing them from other gestational trophoblastic diseases. They are unique in their potential for Mendelian inheritance, increasing the likelihood of multiple occurrences. Genetic investigations suggest that recessive maternal-effect mutations in NLRP7 and KHDC3L genes, leading to abnormal methylation processes in maternally imprinted genes, can contribute to the recurrence of hydatidiform moles.
#7 Molar pregnancy | Radiology Reference Article | Radiopaedia.org
https://radiopaedia.org/articles/molar-pregnancy-2?lang=us
Molar pregnancies, also called hydatidiform moles, are one of the most common forms of gestational trophoblastic disease. […] A hydatidiform mole can either be complete or partial. The absence or presence of a fetus or embryo is used to distinguish the complete from partial moles: complete moles are associated with the absence of a fetus; partial moles usually occur with an abnormal fetus or may even be associated with fetal demise. […] Ninety percent of complete hydatidiform moles have a 46XX diploid chromosomal pattern. All the chromosomes are derived from a single sperm in 90% or less likely two sperms, suggesting fertilization of a single egg that has lost its chromosomes. […] With partial moles, the karyotype is usually triploid (69XXY), the result of fertilization of a normal egg by two sperm, one bearing a 23X chromosomal pattern and the other a 23Y chromosomal pattern. […] In the classic case of molar pregnancy, quantitative analysis of beta-HCG shows hormone levels in both blood and urine greatly exceeding those produced in normal pregnancy at the same stage.
#8 Molar pregnancy | Beacon Health System
https://www.beaconhealthsystem.org/library/diseases-and-conditions/molar-pregnancy?content_id=CON-20375157
A molar pregnancy is a rare complication of pregnancy. It involves unusual growth of cells called trophoblasts. These cells typically become the organ that feeds a growing fetus. That organ also is known as the placenta. […] An egg fertilized atypically causes a molar pregnancy. Human cells usually have 23 pairs of chromosomes. In a typical fertilization, one chromosome in each pair comes from the father, the other from the mother. […] In a complete molar pregnancy, one or two sperm fertilize an egg. The chromosomes from the mother’s egg are missing or don’t work. The father’s chromosomes are copied. There’s none from the mother. […] In a partial or incomplete molar pregnancy, the mother’s chromosomes are present, but the father supplies two sets of chromosomes. The embryo then has 69 chromosomes instead of 46. This most often occurs when two sperm fertilize an egg, resulting in an extra copy of the father’s genes.
#9 Hydatidiform Mole: Practice Essentials, Background, Pathophysiology
https://emedicine.medscape.com/article/254657-overview
A complete mole contains no fetal tissue. Ninety percent are 46,XX, and 10% are 46,XY. Complete moles can be divided into two types, androgenetic complete mole and biparental complete mole. […] These account for 85-90% of complete moles, with two identical paternal chromosome complements, derived from duplication of the paternal haploid chromosomes. They are always 46, XX; 46,YY has never been observed. […] The biparental complete mole is rare. Maternal and paternal genes are present, but failure of maternal imprinting causes only the paternal genome to be expressed. […] Germ line mutations in NLRP7 and KhDCL3 have been identified as causative in recurrent molar pregnancies. […] With a partial mole, fetal tissue is often present. Fetal erythrocytes and vessels in the villi are a common finding. The chromosomal complement is usually 69,XXX or 69,XXY. This results from fertilization of a haploid ovum and duplication of the paternal haploid chromosomes or from dispermy. Partial moles with a 69,XYY complement are rarely seen, and 69,YYY does not occur. Tetraploidy may also be encountered. As in a complete mole, hyperplastic trophoblastic tissue and swelling of the chorionic villi occur.
#10 Molar pregnancy – Wikipedia
https://en.wikipedia.org/wiki/Molar_pregnancy
A complete mole is caused by either a single sperm (90% of the time) or two sperm (10% of the time) combining with an egg that has lost its DNA. […] 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. […] In most complete moles, all nuclear genes are inherited from the father only (androgenesis). […] In approximately 80% of these androgenetic moles, the most probable mechanism is that an egg with an empty nucleus or no nucleus is fertilized by a single sperm, followed by a duplication of all chromosomes/genes (a process called endoreduplication).
#11 Hydatidiform mole: Recognition and management
https://www.contemporaryobgyn.net/view/hydatidiform-mole-recognition-and-management
Molar pregnancies may be associated with serious morbidity so prompt diagnosis, appropriate management, and follow-up are essential. […] Hydatidiform mole is an abnormal pregnancy characterized by varying degrees of trophoblastic proliferation (both cytotrophoblast and syncytiotrophoblast) and vesicular swelling of placental villi associated with an absent or abnormal fetus/embryo. […] Several potential etiologic risk factors for development of molar pregnancy have been evaluated. […] For complete hydatidiform moles, two well-established risk factors have emerged: (1) extremes of maternal age; and (2) prior molar pregnancy. […] These observations suggest that ova of very young or older women are predisposed to abnormal fertilization events that lead to complete hydatidiform moles. […] Complete hydatidiform moles usually arise when an ovum without maternal chromosomes is fertilized by one sperm which then duplicates its DNA, resulting in a 46, XX androgenic karyotype in which all the chromosomes are paternally derived.
#12 Hydatidiform Mole – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK459155/
The common pathology of these lesions is excessive proliferation of trophoblast and placental villi becoming edematous, forming hydatidiform structures. […] Molar pregnancies are genetically characterized with 2 copies of the paternal genome. Complete moles are diploid and androgenetic, with both sets of chromosomes derived from the paternal genome and no maternal contribution to the nuclear genome. […] About 10% of complete hydatidiform moles are 46, XY, arising from fertilization of an empty ovum by 2 sperms, known as dispermy. […] Partial moles are almost always triploid, having an additional paternal set of chromosomes. […] Histologically, both complete and partial hydatidiform moles are characterized by an overgrown villous trophoblast with cystic „swollen” villi. […] The absence of embryonic tissue results from early tissue death before a functioning circulation system is established.
#13 Hydatidiform mole: Recognition and management
https://www.contemporaryobgyn.net/view/hydatidiform-mole-recognition-and-management
About 10% of complete moles are 46, XY or 46, XX arising from fertilization of an empty ovum by two sperm. […] Bipaternal diploid complete moles are associated with a maternal autosomal-recessive missense gene mutation, most commonly NLRP7 on chromosome 19q, which results in repetitive molar pregnancies. […] Partial hydatidiform moles have a triploid karyotype, usually 69, XXY, resulting from dispermic fertilization of an apparently normal ovum. […] Complete hydatidiform moles undergo early and uniform hydatid enlargement of villi in the absence of an ascertainable fetus or embryo, the trophoblast is consistently hyperplastic with varying degrees of atypia, and villous capillaries are absent. […] Partial hydatidiform moles demonstrate identifiable fetal or embryonic tissue, chorionic villi of varying size and shape with focal edema, scalloping and prominent stromal inclusions, a functioning villous circulation, as well as focal trophoblastic hyperplasia with only mild atypia.
#14 Educational Case: Hydatidiform Molar Pregnancy
https://pmc.ncbi.nlm.nih.gov/articles/PMC7863141/
There are 3 classic histological findings with a complete mole: edema of the chorionic villi, avascular villi, and trophoblast proliferation surrounding the villous circumference. […] Gestational trophoblastic neoplasia is a term that includes an invasive mole, choriocarcinoma, placental site trophoblastic tumor, and epithelioid trophoblastic tumor. […] Gestational trophoblastic neoplasia occurs in approximately 15% to 20% of patients following evacuation of a complete hydatidiform mole.
#14 Educational Case: Hydatidiform Molar Pregnancy
https://pmc.ncbi.nlm.nih.gov/articles/PMC7863141/
A molar pregnancy arises from aberrant fertilization. In a complete mole, genetic material is completely supplied by the paternal chromosome, with either 2 spermatozoa or a diploid sperm fertilizing an empty ovum that lacks maternal chromosomes. In approximately 90% of cases, the fertilized ovum is 46, XX. Morphologic studies of hysterectomy specimens provides evidence that hydatidiform moles arise from a transformation of the inner embryonic cell mass prior to differentiation into embryonic tissue. Without normal differentiation into the embryonic endoderm and ectoderm, the inner cell mass produces extraembryonic mesoderm and molar vesicles leading to the hydatidiform mole. […] A complete mole is diploid, 46, XX (chromosomes of paternal origin) in approximately 90% of cases, while a partial mole is triploid and typically is 69, XXY (70% of cases), followed by 69, XXX (27%) and 69, XYY (3%).
#15 Azthena logo with the word Azthena
https://www.news-medical.net/health/Causes-of-Molar-Pregnancy.aspx
A pregnancy that results in the formation of a hydatidiform mole is referred to as a molar pregnancy. A hydatidiform mole is produced by an abnormal conception, resulting from a chromosomal anomaly. […] Both types of molar pregnancy fail to produce a healthy living baby due to the chromosomal anomaly. […] The tissue in the complete hydatidiform mole is usually diploid, but the entire DNA comes from the father. […] In very rare cases, a triploid genome may lose one set of chromosomes (maternal) to result in a diandric zygote. The effects of this are attributed to abnormal genomic imprinting, in which the maternal effects upon development are completely absent. […] In the case of a partial mole, the tissue is triploid. Two copies of the DNA come from the father (diandric) and one from the mother. The mechanism is either dispermic fertilization or fertilization by a sperm whose chromosomes were not reduced. […] The only case in which a fetus in a partial molar pregnancy survives until term is when the zygote is formed with two maternal and one paternal set of chromosomes (digynic zygote).
#16 Partial Molar Pregnancy: Causes, Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/12332-partial-molar-pregnancy
A partial molar pregnancy is a type of molar pregnancy where the embryo (fertilized egg) has too many chromosomes. This happens when the egg gets 69 chromosomes instead of 46. […] Molar pregnancies happen due to a genetic error during fertilization. Specifically, two sperm fertilize an egg instead of one. This results in too much genetic material for a pregnancy to continue correctly. […] In a partial molar pregnancy, a fetus and placenta may start to develop. However, irregular tissue resembling fluid-filled sacs also develop. Since the placenta and fetus develop irregularly, the pregnancy cant survive. […] A partial molar pregnancy is a genetic accident. In a normal pregnancy, the egg receives one set of 23 chromosomes from one parent and one set of 23 chromosomes from the other parent, for a total of 46 chromosomes. In a partial molar pregnancy, the egg receives two sets of chromosomes from the partner with a penis, usually because two sperm have fertilized one egg. The egg now has 69 chromosomes, instead of the normal 46.
#17 Hydatidiform Mole – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK459155/
Increased trophoblastic proliferation is linked to elevated endothelial growth factor receptor expression in trophoblastic cells. […] The absence of p57 expression due to the androgenic origin of complete moles explains the increased trophoblastic and stromal proliferation and invasive potential. […] Compared to partial moles, complete moles have a higher risk of developing both an invasive mole and choriocarcinoma.
#18
https://journals.lww.com/greenjournal/fulltext/2021/02000/gestational_trophoblastic_disease__current.22.aspx
Gestational trophoblastic disease is a spectrum of interrelated disease processes originating from the placenta. Gestational trophoblastic neoplasia refers to lesions that have the potential for local invasion and metastasis. […] The majority of women with gestational trophoblastic disease can be successfully managed with preservation of their reproductive capacity. […] It is important to manage molar pregnancies properly to minimize acute complications and to identify gestational trophoblastic neoplasia promptly. […] Germline mutations in NLRP7 and KHDC3L are observed in 48-80% and 10-14% of patients with repetitive moles, respectively. […] The p57 cyclin-dependent kinase inhibitor is a paternally imprinted but maternally expressed gene. […] In complete moles that lack maternal genome, p57 is not expressed.
#19 Pathogenic role of Twist-1 protein in hydatidiform molar pregnancies and investigation of its potential diagnostic utility in complete moles | Diagnostic Pathology | Full Text
https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-023-01329-5
A higher expression of Twist-1 in villous stromal cells of hydatidiform moles is a sensitive and specific marker for the diagnosis of CMs. An elevated expression of this marker in villous stromal cells suggests another pathogenic mechanism for more aggressiveness of CMs in addition to the characteristics of trophoblast cells. The opposite result was obtained in the expression of Twist-1 in the syncytiotrophoblasts, compatible with defects in the process of formation of these supportive cells in CMs. […] The results of both studies, in addition to the introduction of a new IHC marker (Twist-1), raise the hypotheses regarding the different pathogenesis of molar diseases. Twist-1 is a transcriptional regulator that plays a role in mesodermal-derived tissues such as the uterus in stem cell differentiation.
#20 Pathogenic role of Twist-1 protein in hydatidiform molar pregnancies and investigation of its potential diagnostic utility in complete moles | Diagnostic Pathology | Full Text
https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-023-01329-5
In our study and the study of Moussa et al., a strong and significant increase in the expression of the Twist-1 marker was observed in the stromal cells of villi in CMs compared to the cases of PMs. Risk of invasion and developing choriocarcinoma in CMs is three or four times higher than PMs. Excessive proliferation, atypia and mitosis of trophoblastic cells in CMs is correlated with their more aggressive behavior. The results of our study suggest an additional pathogenic mechanism indicating more invasive nature of the villous stromal cells in CMs. The opposite result was observed in the expression of Twist-1 in the syncytiotrophoblasts. In CMs, this expression was significantly lower than in PMs. The Twist-1 molecule is involved in the fusion of cytotrophoblasts and the formation of syncytiotrophoblasts. […] Despite high sensitivity and specificity of Twist-1, there is no superiority for diagnostic utility, compared with the previously well-known P57 IHC marker.
#21 Hydatidiform Mole | Treatment & Management | Point of Care
https://www.statpearls.com/point-of-care/23062
The common pathology of these lesions is excessive proliferation of trophoblast and placental villi becoming edematous, forming hydatidiform structures. […] Complete moles are diploid and androgenetic, with both sets of chromosomes derived from the paternal genome and no maternal contribution to the nuclear genome. […] The absence of embryonic tissue results from early tissue death before a functioning circulation system is established. […] Increased trophoblastic proliferation is linked to elevated endothelial growth factor receptor expression in trophoblastic cells. […] The absence of p57 expression due to the androgenic origin of complete moles explains the increased trophoblastic and stromal proliferation and invasive potential. […] Compared to partial moles, complete moles have a higher risk of developing both an invasive mole and choriocarcinoma. […] Partial moles are almost always triploid, having an additional paternal set of chromosomes.
#22 Molar pregnancy | Better Health Channel
https://www.betterhealth.vic.gov.au/health/healthyliving/molar-pregnancy
Further treatment is required in 10 per cent of all cases. In some cases, cells from the molar pregnancy can persist (continue) after the initial evacuation, resulting in persistent GTD (also known as gestational trophoblastic neoplasia or GTN). There is a 15 to 25 percent chance of a complete mole persisting, and a 0.5 to 4 per cent chance of a partial mole persisting. If left untreated, these cells can spread into the uterus and rarely, via the blood, to other distant organs including the lungs, liver or brain. […] By monitoring the pregnancy hormone hCG regularly, any remaining molar cells can be detected through a hCG level that does not fall or continues to rise.
#22 Molar pregnancy | Better Health Channel
https://www.betterhealth.vic.gov.au/health/healthyliving/molar-pregnancy
Molar pregnancy is a form of abnormal pregnancy, in which the formed placental-like tissue sometimes invades the wall of the uterus (womb). […] The cause of molar pregnancy is unknown, but risk factors include maternal age of less than 20 years or more than 40 years. […] Hydatidiform mole, or molar pregnancy, is the most common type of GTD and occurs when abnormal fertilisation takes place. There is unusual and rapid growth of placental tissue, which becomes larger than normal and contains a number of cysts (sacs of fluid). […] A complete hydatidiform mole forms when sperm fertilises an egg that does not contain the mothers DNA. This results in 2 sets of genes from the father, and no fetus is formed. […] A partial hydatidiform mole forms when sperm fertilises a normal egg, but results in 2 sets of DNA from the father. A fetus may start to develop but will be abnormal and cannot survive.
#23 Hydatidiform mole: Epidemiology, clinical features, and diagnosis – UpToDate
https://www.uptodate.com/contents/hydatidiform-mole-epidemiology-clinical-features-and-diagnosis
Hydatidiform mole (HM) was first described by Hippocrates around 400 BCE as „dropsy of the uterus.” Since that time, HM (also referred to as molar pregnancy or mole) has been of clinical and research interest. Molar pregnancy is part of a group of diseases classified as gestational trophoblastic disease (GTD), which originate in the placenta and have the potential to locally invade the uterus and metastasize. The pathogenesis of GTD is unique because the maternal tumor arises from gestational rather than maternal tissue. […] Molar pregnancies, although benign, are considered to be premalignant because they have the potential to develop into a malignancy. Malignant disease is referred to as gestational trophoblastic neoplasia (GTN); the histologic entities included in this group are: Invasive mole, Choriocarcinoma, Placental site trophoblastic tumor (PSTT).
#24 Gestational Trophoblastic Disease: Complete versus Partial Hydatidiform Moles
https://www.mdpi.com/2079-9721/12/7/159
Understanding the clinical significance of these chromosomal abnormalities and ploidy status is crucial for predicting malignancies and complications. For example, diploid complete hydatidiform moles may progress to choriocarcinomas, while triploid partial moles rarely progress to malignancies. Patients with a history of complete hydatidiform moles face a four to five times greater risk of developing future moles than those without a prior history. […] The normal development of an embryo starts with the entrance of sperm into the vaginal canal, where female reproductive mechanisms selectively guide a reduced number of sperms into the fallopian tubes. Despite the deposition of millions of sperm cells, factors such as vaginal acidity and thick cervical mucus limit the number that reaches the fallopian tubes. This process aims to facilitate the encounter between sperm and a potentially incoming oocyte after successful female ovulation.
#25 Hydatidiform mole: Recognition and management
https://www.contemporaryobgyn.net/view/hydatidiform-mole-recognition-and-management
hCG is a disease-specific tumor marker produced by the trophoblast of hydatidiform moles and gestational trophoblastic neoplasms as well as normal pregnancy. […] Hydatidiform moles are commonly associated with markedly elevated hCG levels above those of normal pregnancy. […] Prophylactic chemotherapy at the time or immediately after evacuation of a molar pregnancy is associated with a reduction in incidence of postmolar GTN from approximately 15% to 20% down to 3% to 8%.
#26 Partial Mole or Complete Mole: Pathophysiology of Molar Pregnancy | PDF | Women’s Health | Gynaecology
https://www.scribd.com/document/493089467/PATHOPHYSIOLOGY-OF-MOLAR-PREGNANCY
Molar pregnancy is caused by abnormal proliferation of trophoblast cells leading to cystic swelling of chorionic villi and absence of embryonic development. […] This results in high levels of hCG and progesterone that can cause nausea, vomiting, hyperthyroidism, and preeclampsia-like symptoms. […] Treatment involves suction curettage or DC to remove the abnormal placental tissue. […] Risk factors include extremes of reproductive age, Asian descent, blood type A married to blood type O, and low protein or vitamin A intake.
#27
https://journals.lww.com/greenjournal/fulltext/2021/02000/gestational_trophoblastic_disease__current.22.aspx
Among complete moles the extent of hydropic villi and trophoblastic proliferation generally exceeds that observed in partial moles or hydropic abortions. […] Uterine enlargement beyond the expected gestational age, theca lutein cysts, and medical complications of molar pregnancy such as pregnancy-induced hypertension, hyperthyroidism, anemia, respiratory distress, and hyperemesis more frequently affect patients with complete moles diagnosed later in pregnancy. […] Postmolar gestational trophoblastic neoplasia is diagnosed more frequently after complete than partial moles. […] The rationale for recommending an interval of monitoring after normalization of hCG value is to identify patients who develop postmolar malignant gestational trophoblastic neoplasia after achieving normal hCG values.
#28 Eclampsia, HELLP and PRES in a 16-week partial molar pregnancy | BMJ Case Reports
https://casereports.bmj.com/content/17/6/e258188
Eclampsia spectrum disorders are a set of serious complications of pregnancy that commonly present after 20 weeks of gestation. […] There is an association between molar pregnancy, a gestational trophoblastic disease resulting from abnormal fertilisation and gametogenesis, and eclampsia spectrum disorders which can result in manifestation of pre-eclamptic symptomatology earlier than 20 weeks of gestation. […] Although the pathophysiology of eclampsia spectrum disorders is incompletely understood and appears to be multifactorial, some evidence points to the role of increased death of trophoblasts and the maternal inflammatory response to trophoblast deportation. […] Additional evidence points to angiogenic factor imbalance, which becomes of interest when coupled with the observation that molar placentas produce high levels of antiangiogenic factors.
#29 Eclampsia, HELLP and PRES in a 16-week partial molar pregnancy | BMJ Case Reports
https://casereports.bmj.com/content/17/6/e258188
Other causative agents include placental factors that trigger maternal endothelial activation. […] It has been demonstrated that trophoblastic debris from molar pregnancies also induces endothelial cell activation through heat-shock protein 70 (HSP70) expressed on a hydatidiform molar placenta, which may be a pathogenic signal to endothelial cells. […] This case reiterates the association between hydatidiform moles and the hypertensive disorders of pregnancy possibly supporting the theories that such disorders may share an etiologic linkage through trophoblast debris and angiogenic factor imbalance leading to endothelial damage. […] Current management guidelines for molar pregnancy are primarily focused on evacuation of the pregnancy and rigorous beta-HCG monitoring to prevent the progression to gestational neoplasia. […] This case also supports investigative efforts to look for linkages between molar pregnancy and eclampsia to more fully uncover the aetiology of gestational hypertensive disorders.
#30 Molar pregnancy | PPT
https://www.slideshare.net/slideshow/molar-pregnancy-167812076/167812076
A molar pregnancy occurs when abnormal placental tissue develops instead of a fetus. There are two types: complete and partial moles. A complete mole shows trophoblastic proliferation throughout the placenta and no fetal tissue, while a partial mole shows slight, focal proliferation and may contain some fetal tissue. […] A heterogeneous group of interrelated lesions arising from the trophoblastic epithelium of the placenta, characterized by a distinct tumor marker HCG as tumor arises from gestational rather than maternal tissue. […] Pathogenesis and Cytogenetics of HM Genetic Constitution Diploid Triploid/teraploid Patho-genesis 4% Fertilization of an empty ovum by two sperms Diandric dispermy 90% Triploid fertilization of a normal ovum by two sperms Dispermic triploidy 96% Fertilization of an empty ovum by one sperm that undergoes duplication Diandric diploidy 10% Tetraploid fertilization of a normal ovum by three sperms Dispermic triploidy Karyotype 46XX 69XXX 69YXX 69YYX 46XX 46XY Complete Partial
#31 Molar pregnancy | PPT
https://www.slideshare.net/slideshow/molar-pregnancy-167812076/167812076
Familial biparental hydatidiform mole (FBHM) is inherited in an autosomal recessive pattern. Extensive mapping studies had demonstrated a defective locus at 19q13.4. This abnormality has been localized to a single gene- NALP7. This is the first causative gene defect identified in H. MOLE. […] Complete H. Mole Microscopically Enlarged, edematous villi and abnormal trophoblastic proliferation that diffusely involve the entire villi. No fetal tissue, RBCs or amnion are produced. […] The classic „snowstorm” appearance is created by the multiple placental vesicles. […] Theca-lutein cyst associated with a complete H. mole in 30%. […] Prophylactic chemotherapy after molar pregnancy The controversial practice of prophylactic chemotherapy in GTN in women with H.mole is not recommended. […] Persistent gestational trophoblastic disease is defined as persistence of trophoblastic activity as evidenced by clinical, imaging, pathological and hormonal study following initial treatment.
#32 Advances in the diagnosis and early management of gestational trophoblastic disease | BMJ Medicine
https://bmjmedicine.bmj.com/content/1/1/e000321
Gestational trophoblastic disease describes a group of rare pregnancy related disorders that span a spectrum of premalignant and malignant conditions. Hydatidiform mole (also termed molar pregnancy) is the most common form of this disease. Hydatidiform mole describes an abnormal conceptus containing two copies of the paternal genome, which is classified as partial when the maternal genome is present or complete when the maternal genome is absent. […] Both complete and partial moles have the potential for malignant transformation but the risk of GTN is higher for CHM (15-20%) than for PHM (0.5-1%). […] The pathogenesis of GTD is unique as the maternal tumour arises from gestational tissue rather than maternal tissue. […] Histopathological classification of products of conception into CHM, PHM, and non-molar gestations can be challenging based on morphology alone, and ancillary techniques (eg, immunohistochemistry, ploidy analysis, and molecular genotyping) are used to aid diagnosis.
#33 Advances in the diagnosis and early management of gestational trophoblastic disease | BMJ Medicine
https://bmjmedicine.bmj.com/content/1/1/e000321
The genetic origin of hydatidiform mole is complex. CHMs have a purely androgenetic genome. They contain 46 chromosomes (diploid) with two copies of the paternal genome (diandric) and no contribution from the maternal genome. […] Heterozygous dispermic CHMs are clinically more aggressive than homozygous monospermic CHM and have a significantly higher risk of neoplastic transformation. […] Several theories have emerged to explain the origin of hydatidiform moles. One theory is that complete moles originate from an empty ovum, which is then fertilised by one or two sperm. […] An alternative theory proposed by Golubovsky postulates that all hydatidiform moles originate from the fertilisation of a normal ovum by two sperm to create a triploid conceptus. […] The diagnosis of CHM, PHM, placental site nodule, and atypical placental site nodule is made on the basis of histopathological confirmation.
#34 Information about molar pregnancy | Imperial College Healthcare NHS Trust
https://www.imperial.nhs.uk/our-services/cancer-services/gestational-trophoblastic-disease/information-about-molar-pregnancy
The decision to start treatment is generally made on the pattern of the hCG levels following the evacuation. […] While we generally do not do a further biopsy to prove it, if measuring samples indicates that the hCG level is rising and we decide to start treatment, we would regard you as having persistent trophoblastic disease, or choriocarcinoma, a very rare form of cancer. […] There are three treatment possibilities for patients with persistent trophoblastic disease after a molar pregnancy. […] The most frequent choice is chemotherapy. […] The second treatment option is to perform a second evacuation of the uterus with the aim of physically removing the residual disease. […] The third treatment option and that most rarely used is to treat the molar pregnancy by performing a hysterectomy.
#35 Gestational trophoblastic disease – Knowledge @ AMBOSS
https://www.amboss.com/us/knowledge/gestational-trophoblastic-disease/
Complete mole is the result of paternal disomy. Partial mole is the result of triploidy. […] Pathophysiology: Hydropic degeneration of chorionic villi with concomitant proliferation of cytotrophoblasts and syncytiotrophoblasts death of the embryo. […] Malignant transformation of cytotrophoblastic and syncytiotrophoblastic tissue. […] Choriocarcinoma is preceded by: Hydatidiform mole. […] Pathophysiology: Malignant transformation of cytotrophoblastic and syncytiotrophoblastic tissue. […] Trophoblasts infiltrate the myometrium increased risk of uterine perforation, intraperitoneal hemorrhage, or infection. […] The risk of progression to an invasive mole depends on the type of initial hydatidiform mole.
#36 Hydatidiform mole Information | Mount Sinai – New York
https://www.mountsinai.org/health-library/diseases-conditions/hydatidiform-mole
Hydatidiform mole (HM) is a rare mass or growth that forms inside the womb (uterus) at the beginning of a pregnancy. It is a type of gestational trophoblastic disease (GTD). […] HM, or molar pregnancy, results from abnormal fertilization of the oocyte (egg). It results in an abnormal fetus. The placenta grows normally with little or no growth of the fetal tissue. The placental tissue forms a mass in the uterus. On ultrasound, this mass often has a grape-like appearance, as it contains many small cysts. […] Molar pregnancy can be of two types: Partial molar pregnancy: There is an abnormal placenta and some fetal development. Complete molar pregnancy: There is an abnormal placenta and no fetus. […] After treatment, your hCG level will be followed. It is important to avoid another pregnancy and to use a reliable contraceptive for 6 to 12 months after treatment for a molar pregnancy. This time allows for accurate testing to be sure that the abnormal tissue does not grow back. Women who get pregnant too soon after a molar pregnancy are at high risk of having another molar pregnancy.
#37
https://journals.lww.com/greenjournal/fulltext/2021/02000/gestational_trophoblastic_disease__current.22.aspx
The risk of postmolar gestational trophoblastic neoplasia dropped rapidly during the first 6 months of monitoring. […] The primary treatment for most forms of gestational trophoblastic neoplasia is chemotherapy, based on the individual patients risk. […] The most frequently used single-agent regimens with methotrexate and actinomycin D are listed in Table 4. […] The current National Comprehensive Cancer Network guidelines recommend initial multiday methotrexate or methotrexate-folinic acid regimens, with actinomycin D regimens for patients with contraindications for methotrexate therapy. […] Multiagent regimens incorporate etoposide, with or without cisplatin, into cyclical combination chemotherapy with high rates of success and lower acute toxicity. […] The best treatment for liver or other high-risk sites of metastases has not been established; these patients are most often managed with highly individualized multimodality therapy, incorporating chemotherapy, with potential surgical resection of isolated metastases, embolization of liver metastases, or localized radiation therapy. […] The role of immunotherapy for treatment of gestational trophoblastic neoplasia remains to be established.
#38 WHO EMRO | Short communication: Molar pregnancy and husbandâs occupation: do soil and dust have any role? | Volume 14, issue 1 | EMHJ volume 14, 2008
https://www.emro.who.int/emhj-volume-14-2008/volume-14-issue-1/article21.html
Molar pregnancy (hydatidiform mole) is a pathological condition and has adverse effects on womens health. It occurs when fertilization occurs abnormally. Cytogenetic studies of complete mole have identified the chromosomes completely of paternal origin (androgenesis). […] The aim of the present study was to evaluate the relationship between molar pregnancy and husbands occupation and the role of soil and dust. The results indicate that such a relationship exists. Molar pregnancy begins with fertilization of an empty or normal ovum by 1 or 2 sperm. Germ cells and sperms, as other cells in the body, can be influenced by environmental factors. Therefore it is possible that a husbands occupation can influence gonads and germ cells, through exposure to some environmental factors, which may in turn lead to abnormal fertilization as occurs in molar pregnancy. […] Further research into the association between occupation and molar pregnancy is recommended with larger samples and investigation of the spermatogenesis and fertilization processes.
#39 Gestational Trophoblastic Disease: Complete versus Partial Hydatidiform Moles
https://www.mdpi.com/2079-9721/12/7/159
However, normal fertilization and embryological development do not always lead to a developing fetus. Hydatidiform moles are due to abnormal placental development. Although rare, contributing factors, with maternal age as the primary contributor, have been identified. Other clinically significant trophoblastic growths include invasive moles and choriocarcinoma, previously associated with poor prognoses but now showing cure rates exceeding 98% due to improved treatment protocols.