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Uterine cervical aplasia and agenesis

MedGen UID:
1673872
•Concept ID:
C5190813
•
Congenital Abnormality
Synonyms: Aplasia of uterine cervix; uterine cervical aplasia and agenesis
SNOMED CT: Aplasia of uterine cervix (783095007)
 
Monarch Initiative: MONDO:0015845
Orphanet: ORPHA180145

Definition

A rare non-syndromic uterovaginal malformation with characteristics of variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhoea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUterine cervical aplasia and agenesis

Professional guidelines

PubMed

European consensus statement on expert colposcopy.
McGee AE, Alibegashvili T, Elfgren K, Frey B, Grigore M, Heinonen A, Jach R, Jariene K, Kesic V, Küppers V, Kyrgiou M, Leeson S, Louwers J, Mazurec M, Mergui J, Pedro A, Šavrova A, Siegler E, Tabuica U, Trojnarska D, Trzeszcz M, Turyna R, Volodko N, Cruickshank ME; European Federation for Colposcopy and Pathology of the Lower Genital Tract (EFC) and the European Society of Gynaecological Oncology (ESGO)
Eur J Obstet Gynecol Reprod Biol 2023 Nov;290:27-37. Epub 2023 Aug 31 doi: 10.1016/j.ejogrb.2023.08.369. PMID: 37716200
Primary HPV screening for cervical cancer.
Bhatla N, Singhal S
Best Pract Res Clin Obstet Gynaecol 2020 May;65:98-108. Epub 2020 Mar 2 doi: 10.1016/j.bpobgyn.2020.02.008. PMID: 32291178
Diagnosis and treatment of müllerian malformations.
Passos IMPE, Britto RL
Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188. doi: 10.1016/j.tjog.2020.01.003. PMID: 32127135

Recent clinical studies

Etiology

Reconstructive surgery for congenital atresia of the uterine cervix: a systematic review.
Fedele F, Parazzini F, Vercellini P, Bergamini V, Fedele L
Arch Gynecol Obstet 2023 Sep;308(3):685-700. Epub 2022 Oct 28 doi: 10.1007/s00404-022-06825-5. PMID: 36305896
Management of Short Cervix during Pregnancy: A Review.
Gilner J, Biggio J
Am J Perinatol 2016 Feb;33(3):245-52. Epub 2016 Jan 20 doi: 10.1055/s-0035-1571145. PMID: 26788787
Short cervical length dilemma.
Suhag A, Berghella V
Obstet Gynecol Clin North Am 2015 Jun;42(2):241-54. Epub 2015 Mar 10 doi: 10.1016/j.ogc.2015.01.003. PMID: 26002164
Mid-trimester pregnancy loss.
McNamee KM, Dawood F, Farquharson RG
Obstet Gynecol Clin North Am 2014 Mar;41(1):87-102. Epub 2013 Dec 5 doi: 10.1016/j.ogc.2013.10.007. PMID: 24491985
The natural history of cervical HPV infection: unresolved issues.
Woodman CB, Collins SI, Young LS
Nat Rev Cancer 2007 Jan;7(1):11-22. doi: 10.1038/nrc2050. PMID: 17186016

Diagnosis

Diagnosis and treatment of müllerian malformations.
Passos IMPE, Britto RL
Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188. doi: 10.1016/j.tjog.2020.01.003. PMID: 32127135
Mid-trimester pregnancy loss.
McNamee KM, Dawood F, Farquharson RG
Obstet Gynecol Clin North Am 2014 Mar;41(1):87-102. Epub 2013 Dec 5 doi: 10.1016/j.ogc.2013.10.007. PMID: 24491985
The natural history of cervical HPV infection: unresolved issues.
Woodman CB, Collins SI, Young LS
Nat Rev Cancer 2007 Jan;7(1):11-22. doi: 10.1038/nrc2050. PMID: 17186016
Recurrent miscarriage.
Horne AW, Alexander CI
J Fam Plann Reprod Health Care 2005 Apr;31(2):103-7. doi: 10.1783/1471189053629428. PMID: 15921544
Infertility.
Case AL, Zuspan FP
Surg Clin North Am 1969 Feb;49(1):121-36. doi: 10.1016/s0039-6109(16)38741-2. PMID: 4893129

Therapy

It Is All about Probiotics to Control Cervical Cancer.
Ashique S, Faruk A, Ahmad FJ, Khan T, Mishra N
Probiotics Antimicrob Proteins 2024 Jun;16(3):979-992. Epub 2023 Oct 25 doi: 10.1007/s12602-023-10183-2. PMID: 37880560
Management of Short Cervix during Pregnancy: A Review.
Gilner J, Biggio J
Am J Perinatol 2016 Feb;33(3):245-52. Epub 2016 Jan 20 doi: 10.1055/s-0035-1571145. PMID: 26788787
Short cervical length dilemma.
Suhag A, Berghella V
Obstet Gynecol Clin North Am 2015 Jun;42(2):241-54. Epub 2015 Mar 10 doi: 10.1016/j.ogc.2015.01.003. PMID: 26002164
Evaluation and treatment of infertility.
Lindsay TJ, Vitrikas KR
Am Fam Physician 2015 Mar 1;91(5):308-14. PMID: 25822387
Infertility.
Case AL, Zuspan FP
Surg Clin North Am 1969 Feb;49(1):121-36. doi: 10.1016/s0039-6109(16)38741-2. PMID: 4893129

Prognosis

Management of Short Cervix during Pregnancy: A Review.
Gilner J, Biggio J
Am J Perinatol 2016 Feb;33(3):245-52. Epub 2016 Jan 20 doi: 10.1055/s-0035-1571145. PMID: 26788787
Short cervical length dilemma.
Suhag A, Berghella V
Obstet Gynecol Clin North Am 2015 Jun;42(2):241-54. Epub 2015 Mar 10 doi: 10.1016/j.ogc.2015.01.003. PMID: 26002164
Impact of HPV immunization on the detection of cervical disease.
Munro AJ, Cruickshank ME
Expert Rev Vaccines 2014 Apr;13(4):533-44. doi: 10.1586/14760584.2014.894468. PMID: 24606579
Recurrent miscarriage.
Horne AW, Alexander CI
J Fam Plann Reprod Health Care 2005 Apr;31(2):103-7. doi: 10.1783/1471189053629428. PMID: 15921544
Oral contraceptives and reproductive system cancer.
Deligeoroglou E, Michailidis E, Creatsas G
Ann N Y Acad Sci 2003 Nov;997:199-208. doi: 10.1196/annals.1290.023. PMID: 14644827

Clinical prediction guides

Primary HPV screening for cervical cancer.
Bhatla N, Singhal S
Best Pract Res Clin Obstet Gynaecol 2020 May;65:98-108. Epub 2020 Mar 2 doi: 10.1016/j.bpobgyn.2020.02.008. PMID: 32291178
Management of Short Cervix during Pregnancy: A Review.
Gilner J, Biggio J
Am J Perinatol 2016 Feb;33(3):245-52. Epub 2016 Jan 20 doi: 10.1055/s-0035-1571145. PMID: 26788787
Short cervical length dilemma.
Suhag A, Berghella V
Obstet Gynecol Clin North Am 2015 Jun;42(2):241-54. Epub 2015 Mar 10 doi: 10.1016/j.ogc.2015.01.003. PMID: 26002164
Clinical validation of interactive cytologic screening. Automating the search, not the interpretation.
Mango LJ
Acta Cytol 1997 Jan-Feb;41(1):93-7. doi: 10.1159/000332312. PMID: 9022733
Lethal fetal anomalies: sonographic demonstration.
Sanders RC, Blakemore K
Radiology 1989 Jul;172(1):1-6. doi: 10.1148/radiology.172.1.2662246. PMID: 2662246

Recent systematic reviews

Human papillomavirus vaccine effectiveness by age at vaccination: A systematic review.
Ellingson MK, Sheikha H, Nyhan K, Oliveira CR, Niccolai LM
Hum Vaccin Immunother 2023 Aug 1;19(2):2239085. doi: 10.1080/21645515.2023.2239085. PMID: 37529935Free PMC Article
Reconstructive surgery for congenital atresia of the uterine cervix: a systematic review.
Fedele F, Parazzini F, Vercellini P, Bergamini V, Fedele L
Arch Gynecol Obstet 2023 Sep;308(3):685-700. Epub 2022 Oct 28 doi: 10.1007/s00404-022-06825-5. PMID: 36305896
Effect of cervical cancer education and provider recommendation for screening on screening rates: A systematic review and meta-analysis.
Musa J, Achenbach CJ, O'Dwyer LC, Evans CT, McHugh M, Hou L, Simon MA, Murphy RL, Jordan N
PLoS One 2017;12(9):e0183924. Epub 2017 Sep 5 doi: 10.1371/journal.pone.0183924. PMID: 28873092Free PMC Article
Cytology versus HPV testing for cervical cancer screening in the general population.
Koliopoulos G, Nyaga VN, Santesso N, Bryant A, Martin-Hirsch PP, Mustafa RA, Schünemann H, Paraskevaidis E, Arbyn M
Cochrane Database Syst Rev 2017 Aug 10;8(8):CD008587. doi: 10.1002/14651858.CD008587.pub2. PMID: 28796882Free PMC Article
Adenocarcinoma in situ of the uterine cervix--a systematic review.
Baalbergen A, Helmerhorst TJ
Int J Gynecol Cancer 2014 Nov;24(9):1543-8. doi: 10.1097/IGC.0000000000000260. PMID: 25238167

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