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Gestational trophoblastic disease

MedGen UID:
444101
Concept ID:
C2931618
Disease or Syndrome
Synonyms: Disease, Gestational Trophoblastic; Diseases, Gestational Trophoblastic; Gestational Trophoblastic Disease; Gestational Trophoblastic Diseases; Trophoblastic Disease, Gestational; Trophoblastic Diseases, Gestational
SNOMED CT: Gestational trophoblastic disease (416402001); GTD - Gestational trophoblastic disease (416402001); Trophoblastic disease (416402001); Gestational trophoblastic disease (609518007)
 
OMIM®: 231090
Orphanet: ORPHA254685

Definition

A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013). Genetic Heterogeneity of Recurrent Hydatidiform Mole Another form of recurrent complete hydatidiform mole (HYDM2; 614293) is caused by mutation in the KHDC3L gene (611687) on chromosome 6q13. HYDM3 (618431) is caused by mutation in the MEI1 gene (608797) on chromosome 22q13. HYDM4 (618432) is caused by mutation in the C11ORF80 gene (616109) on chromosome 11q13. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGestational trophoblastic disease
Follow this link to review classifications for Gestational trophoblastic disease in Orphanet.

Professional guidelines

PubMed

Lukinovic N, Malovrh EP, Takac I, Sobocan M, Knez J
Radiol Oncol 2022 Dec 1;56(4):430-439. Epub 2022 Oct 27 doi: 10.2478/raon-2022-0038. PMID: 36286620Free PMC Article
Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2021 Oct;155 Suppl 1(Suppl 1):86-93. doi: 10.1002/ijgo.13877. PMID: 34669197Free PMC Article
Soper JT
Obstet Gynecol 2021 Feb 1;137(2):355-370. doi: 10.1097/AOG.0000000000004240. PMID: 33416290Free PMC Article

Recent clinical studies

Etiology

Chawla T, Bouchard-Fortier G, Turashvili G, Osborne R, Hack K, Glanc P
Abdom Radiol (NY) 2023 May;48(5):1793-1815. Epub 2023 Feb 10 doi: 10.1007/s00261-023-03820-5. PMID: 36763119
Lukinovic N, Malovrh EP, Takac I, Sobocan M, Knez J
Radiol Oncol 2022 Dec 1;56(4):430-439. Epub 2022 Oct 27 doi: 10.2478/raon-2022-0038. PMID: 36286620Free PMC Article
Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2021 Oct;155 Suppl 1(Suppl 1):86-93. doi: 10.1002/ijgo.13877. PMID: 34669197Free PMC Article
Kaur B
Best Pract Res Clin Obstet Gynaecol 2021 Jul;74:3-28. Epub 2021 Mar 31 doi: 10.1016/j.bpobgyn.2021.02.005. PMID: 34219021
Soper JT
Obstet Gynecol 2021 Feb 1;137(2):355-370. doi: 10.1097/AOG.0000000000004240. PMID: 33416290Free PMC Article

Diagnosis

Chawla T, Bouchard-Fortier G, Turashvili G, Osborne R, Hack K, Glanc P
Abdom Radiol (NY) 2023 May;48(5):1793-1815. Epub 2023 Feb 10 doi: 10.1007/s00261-023-03820-5. PMID: 36763119
Lukinovic N, Malovrh EP, Takac I, Sobocan M, Knez J
Radiol Oncol 2022 Dec 1;56(4):430-439. Epub 2022 Oct 27 doi: 10.2478/raon-2022-0038. PMID: 36286620Free PMC Article
Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2021 Oct;155 Suppl 1(Suppl 1):86-93. doi: 10.1002/ijgo.13877. PMID: 34669197Free PMC Article
Kaur B
Best Pract Res Clin Obstet Gynaecol 2021 Jul;74:3-28. Epub 2021 Mar 31 doi: 10.1016/j.bpobgyn.2021.02.005. PMID: 34219021
Soper JT
Obstet Gynecol 2021 Feb 1;137(2):355-370. doi: 10.1097/AOG.0000000000004240. PMID: 33416290Free PMC Article

Therapy

Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2021 Oct;155 Suppl 1(Suppl 1):86-93. doi: 10.1002/ijgo.13877. PMID: 34669197Free PMC Article
Soper JT
Obstet Gynecol 2021 Feb 1;137(2):355-370. doi: 10.1097/AOG.0000000000004240. PMID: 33416290Free PMC Article
Eiriksson L, Dean E, Sebastianelli A, Salvador S, Comeau R, Jang JH, Bouchard-Fortier G, Osborne R, Sauthier P
J Obstet Gynaecol Can 2021 Jan;43(1):91-105.e1. doi: 10.1016/j.jogc.2020.03.001. PMID: 33384141
Glasier A, Bhattacharya S, Evers H, Gemzell-Danielsson K, Hardman S, Heikinheimo O, La Vecchia C, Somigliana E; Annual Capri Workshop Group
Acta Obstet Gynecol Scand 2019 Nov;98(11):1378-1385. Epub 2019 May 13 doi: 10.1111/aogs.13627. PMID: 31001809
Lurain JR
Am J Obstet Gynecol 2010 Dec;203(6):531-9. Epub 2010 Aug 21 doi: 10.1016/j.ajog.2010.06.073. PMID: 20728069

Prognosis

Chawla T, Bouchard-Fortier G, Turashvili G, Osborne R, Hack K, Glanc P
Abdom Radiol (NY) 2023 May;48(5):1793-1815. Epub 2023 Feb 10 doi: 10.1007/s00261-023-03820-5. PMID: 36763119
Kaur B
Best Pract Res Clin Obstet Gynaecol 2021 Jul;74:3-28. Epub 2021 Mar 31 doi: 10.1016/j.bpobgyn.2021.02.005. PMID: 34219021
Eiriksson L, Dean E, Sebastianelli A, Salvador S, Comeau R, Jang JH, Bouchard-Fortier G, Osborne R, Sauthier P
J Obstet Gynaecol Can 2021 Jan;43(1):91-105.e1. doi: 10.1016/j.jogc.2020.03.001. PMID: 33384141
Glasier A, Bhattacharya S, Evers H, Gemzell-Danielsson K, Hardman S, Heikinheimo O, La Vecchia C, Somigliana E; Annual Capri Workshop Group
Acta Obstet Gynecol Scand 2019 Nov;98(11):1378-1385. Epub 2019 May 13 doi: 10.1111/aogs.13627. PMID: 31001809
Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2018 Oct;143 Suppl 2:79-85. doi: 10.1002/ijgo.12615. PMID: 30306586

Clinical prediction guides

Bogani G, Ray-Coquard I, Mutch D, Vergote I, Ramirez PT, Prat J, Concin N, Ngoi NYL, Coleman RL, Enomoto T, Takehara K, Denys H, Lorusso D, Takano M, Sagae S, Wimberger P, Segev Y, Kim SI, Kim JW, Herrera F, Mariani A, Brooks RA, Tan D, Paolini B, Chiappa V, Longo M, Raspagliesi F, Benedetti Panici P, Di Donato V, Caruso G, Colombo N, Pignata S, Zannoni G, Scambia G, Monk BJ
Int J Gynecol Cancer 2023 Oct 2;33(10):1504-1514. doi: 10.1136/ijgc-2023-004704. PMID: 37758451
Chawla T, Bouchard-Fortier G, Turashvili G, Osborne R, Hack K, Glanc P
Abdom Radiol (NY) 2023 May;48(5):1793-1815. Epub 2023 Feb 10 doi: 10.1007/s00261-023-03820-5. PMID: 36763119
Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2021 Oct;155 Suppl 1(Suppl 1):86-93. doi: 10.1002/ijgo.13877. PMID: 34669197Free PMC Article
Eiriksson L, Dean E, Sebastianelli A, Salvador S, Comeau R, Jang JH, Bouchard-Fortier G, Osborne R, Sauthier P
J Obstet Gynaecol Can 2021 Jan;43(1):91-105.e1. doi: 10.1016/j.jogc.2020.03.001. PMID: 33384141
Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L
Int J Gynaecol Obstet 2018 Oct;143 Suppl 2:79-85. doi: 10.1002/ijgo.12615. PMID: 30306586

Recent systematic reviews

Hagey JM, Drury KE, Kaplan S, Davidson BA, Morse JE
Contraception 2024 Sep;137:110488. Epub 2024 May 17 doi: 10.1016/j.contraception.2024.110488. PMID: 38763274
Albright BB, Ellett T, Knochenhauer HE, Goins EC, Monuszko KA, Kaplan SJ, Previs RA, Moss HA, Havrilesky LJ, Davidson BA
BJOG 2023 Apr;130(5):443-453. Epub 2023 Jan 25 doi: 10.1111/1471-0528.17374. PMID: 36648416Free PMC Article
Gorun F, Tomescu L, Motoc A, Citu C, Sas I, Serban DM, Forga M, Citu IM, Gorun OM
Medicine (Baltimore) 2022 Jul 29;101(30):e29934. doi: 10.1097/MD.0000000000029934. PMID: 35905248Free PMC Article
Joneborg U, Coopmans L, van Trommel N, Seckl M, Lok CAR
Int J Gynecol Cancer 2021 Mar;31(3):399-411. doi: 10.1136/ijgc-2020-001784. PMID: 33649007
Garcia MT, Lin LH, Fushida K, Francisco RP, Zugaib M
Rev Assoc Med Bras (1992) 2016 Dec;62(9):837-842. doi: 10.1590/1806-9282.62.09.837. PMID: 28001257

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