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Fetal cystic hygroma(FCH)

MedGen UID:
181758
•Concept ID:
C0948242
•
Congenital Abnormality
Synonyms: FCH; NUCHAL BLEB, FAMILIAL
 
HPO: HP:0010878
OMIM®: 257350

Definition

Fetal cystic hygromas are congenital malformations of the lymphatic system appearing as single or multiloculated fluid-filled cavities, most often in the neck. They are thought to arise from failure of the lymphatic system to communicate with the venous system in the neck. They often progress to hydrops and cause fetal death (Chervenak et al., 1983). [from OMIM]

Clinical features

From HPO
Cystic hygroma
MedGen UID:
60195
•Concept ID:
C0206620
•
Neoplastic Process
A cystic lymphatic lesion of the neck.
See: Feature record | Search on this feature
Hydrops fetalis
MedGen UID:
6947
•Concept ID:
C0020305
•
Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
See: Feature record | Search on this feature
Fetal cystic hygroma
MedGen UID:
181758
•Concept ID:
C0948242
•
Congenital Abnormality
Fetal cystic hygromas are congenital malformations of the lymphatic system appearing as single or multiloculated fluid-filled cavities, most often in the neck. They are thought to arise from failure of the lymphatic system to communicate with the venous system in the neck. They often progress to hydrops and cause fetal death (Chervenak et al., 1983).
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFetal cystic hygroma

Conditions with this feature

Fetal cystic hygroma
MedGen UID:
181758
•Concept ID:
C0948242
•
Congenital Abnormality
Fetal cystic hygromas are congenital malformations of the lymphatic system appearing as single or multiloculated fluid-filled cavities, most often in the neck. They are thought to arise from failure of the lymphatic system to communicate with the venous system in the neck. They often progress to hydrops and cause fetal death (Chervenak et al., 1983).
See: Condition Record
Fetal cystic hygroma

Professional guidelines

PubMed

Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China.
Zhou Y, Lu X, Zhang Y, Ge Y, Xu Y, Wu L, Jiang Y
Cytogenet Genome Res 2022;162(7):354-364. Epub 2023 Mar 10 doi: 10.1159/000528600. PMID: 36907182
Prenatal diagnosis and genetic analysis of X chromosome polysomy 49, XXXXY.
Chen CP, Chern SR, Chang CL, Lee CC, Chen WL, Chen LF, Wang W
Prenat Diagn 2000 Sep;20(9):754-7. doi: 10.1002/1097-0223(200009)20:9<754::aid-pd896>3.0.co;2-n. PMID: 11015707
Fetal cystic hygroma: prenatal diagnosis and management.
Pijpers L, Reuss A, Stewart PA, Wladimiroff JW, Sachs ES
Obstet Gynecol 1988 Aug;72(2):223-4. PMID: 3292980

Recent clinical studies

Etiology

Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China.
Zhou Y, Lu X, Zhang Y, Ge Y, Xu Y, Wu L, Jiang Y
Cytogenet Genome Res 2022;162(7):354-364. Epub 2023 Mar 10 doi: 10.1159/000528600. PMID: 36907182
Retrospective analysis of genetic etiology and obstetric outcome of fetal cystic hygroma: A single-center study.
Cai M, Guo N, Lin N, Huang H, Xu L
Medicine (Baltimore) 2022 Nov 25;101(47):e31689. doi: 10.1097/MD.0000000000031689. PMID: 36451403Free PMC Article
First trimester cystic hygroma: does early detection matter?
Scholl J, Chasen ST
Prenat Diagn 2016 May;36(5):432-6. Epub 2016 Mar 21 doi: 10.1002/pd.4799. PMID: 26934494
Fetal cystic hygroma: the importance of natural history.
Noia G, Pellegrino M, Masini L, Visconti D, Manzoni C, Chiaradia G, Caruso A
Eur J Obstet Gynecol Reprod Biol 2013 Oct;170(2):407-13. Epub 2013 Aug 14 doi: 10.1016/j.ejogrb.2013.07.043. PMID: 23988219
Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester.
Graesslin O, Derniaux E, Alanio E, Gaillard D, Vitry F, Quéreux C, Ducarme G
Acta Obstet Gynecol Scand 2007;86(12):1442-6. Epub 2007 Sep 6 doi: 10.1080/00016340701644843. PMID: 17851808

Diagnosis

Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China.
Zhou Y, Lu X, Zhang Y, Ge Y, Xu Y, Wu L, Jiang Y
Cytogenet Genome Res 2022;162(7):354-364. Epub 2023 Mar 10 doi: 10.1159/000528600. PMID: 36907182
Fetal cystic hygroma: the importance of natural history.
Noia G, Pellegrino M, Masini L, Visconti D, Manzoni C, Chiaradia G, Caruso A
Eur J Obstet Gynecol Reprod Biol 2013 Oct;170(2):407-13. Epub 2013 Aug 14 doi: 10.1016/j.ejogrb.2013.07.043. PMID: 23988219
Autopsy findings in fetuses with cystic hygroma: a literature review and our center's experience.
Grapsa D, Mavrigiannaki P, Kleanthis C, Hasiakos D, Vitoratos N, Kondi-Pafiti A
Clin Exp Obstet Gynecol 2012;39(3):369-73. PMID: 23157047
Fetal cystic hygroma: prenatal diagnosis and management.
Pijpers L, Reuss A, Stewart PA, Wladimiroff JW, Sachs ES
Obstet Gynecol 1988 Aug;72(2):223-4. PMID: 3292980
Fetal cystic hygroma. Cause and natural history.
Chervenak FA, Isaacson G, Blakemore KJ, Breg WR, Hobbins JC, Berkowitz RL, Tortora M, Mayden K, Mahoney MJ
N Engl J Med 1983 Oct 6;309(14):822-5. doi: 10.1056/NEJM198310063091403. PMID: 6888468

Therapy

Antenatal treatment of chylothorax and cystic hygroma with OK-432 in nonimmune hydrops fetalis.
Chen M, Chen CP, Shih JC, Chou HC, Yu CL, Wang BT, Hsieh CY
Fetal Diagn Ther 2005 Jul-Aug;20(4):309-15. doi: 10.1159/000085092. PMID: 15980647
Successful intrauterine treatment of cystic hygroma colli using OK-432. A case report.
Sasaki Y, Chiba Y
Fetal Diagn Ther 2003 Nov-Dec;18(6):391-6. doi: 10.1159/000073129. PMID: 14564106
Outcome of fetal cystic hygroma and experience of intrauterine treatment.
Ogita K, Suita S, Taguchi T, Yamanouchi T, Masumoto K, Tsukimori K, Nakano H
Fetal Diagn Ther 2001 Mar-Apr;16(2):105-10. doi: 10.1159/000053891. PMID: 11173958

Prognosis

Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma.
Fu F, Yang X, Li R, Li Y, Zhou H, Cheng K, Huang R, Wang Y, Guo F, Zhang L, Pan M, Han J, Zhen L, Li L, Lei T, Li D, Liao C
BMC Med Genomics 2024 Apr 22;17(1):96. doi: 10.1186/s12920-024-01859-x. PMID: 38650036Free PMC Article
Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China.
Zhou Y, Lu X, Zhang Y, Ge Y, Xu Y, Wu L, Jiang Y
Cytogenet Genome Res 2022;162(7):354-364. Epub 2023 Mar 10 doi: 10.1159/000528600. PMID: 36907182
Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester.
Graesslin O, Derniaux E, Alanio E, Gaillard D, Vitry F, Quéreux C, Ducarme G
Acta Obstet Gynecol Scand 2007;86(12):1442-6. Epub 2007 Sep 6 doi: 10.1080/00016340701644843. PMID: 17851808
Prognosis in fetal cystic hygroma.
Anderson NG, Kennedy JC
Aust N Z J Obstet Gynaecol 1992 Feb;32(1):36-9. doi: 10.1111/j.1479-828x.1992.tb01895.x. PMID: 1586333
Fetal cystic hygroma: prenatal diagnosis and management.
Pijpers L, Reuss A, Stewart PA, Wladimiroff JW, Sachs ES
Obstet Gynecol 1988 Aug;72(2):223-4. PMID: 3292980

Clinical prediction guides

Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma.
Fu F, Yang X, Li R, Li Y, Zhou H, Cheng K, Huang R, Wang Y, Guo F, Zhang L, Pan M, Han J, Zhen L, Li L, Lei T, Li D, Liao C
BMC Med Genomics 2024 Apr 22;17(1):96. doi: 10.1186/s12920-024-01859-x. PMID: 38650036Free PMC Article
Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China.
Zhou Y, Lu X, Zhang Y, Ge Y, Xu Y, Wu L, Jiang Y
Cytogenet Genome Res 2022;162(7):354-364. Epub 2023 Mar 10 doi: 10.1159/000528600. PMID: 36907182
Retrospective analysis of genetic etiology and obstetric outcome of fetal cystic hygroma: A single-center study.
Cai M, Guo N, Lin N, Huang H, Xu L
Medicine (Baltimore) 2022 Nov 25;101(47):e31689. doi: 10.1097/MD.0000000000031689. PMID: 36451403Free PMC Article
Outcome of antenatally diagnosed cystic hygroma - Lessons learnt.
Behera S, Bawa M, Kanojia RP, Saha PK, Singh T, Samujh R
Int J Pediatr Otorhinolaryngol 2020 Nov;138:110227. Epub 2020 Jul 11 doi: 10.1016/j.ijporl.2020.110227. PMID: 33137866
Fetal cystic hygroma and Turner's syndrome.
Carr RF, Ochs RH, Ritter DA, Kenny JD, Fridey JL, Ming PM
Am J Dis Child 1986 Jun;140(6):580-3. doi: 10.1001/archpedi.1986.02140200090035. PMID: 3706240

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