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Nuchal bleb, familial(FCH)

MedGen UID:
181758
Concept ID:
C0948242
Congenital Abnormality
Synonyms: Cystic hygroma fetal; FCH
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
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

Fetal cystic hygroma
MedGen UID:
506411
Concept ID:
CN116612
Finding
The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm.
Hydrops fetalis
MedGen UID:
504951
Concept ID:
CN001623
Finding
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Fetal cystic hygroma
MedGen UID:
506411
Concept ID:
CN116612
Finding
The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm.
Hydrops fetalis
MedGen UID:
504951
Concept ID:
CN001623
Finding
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Fetal cystic hygroma
MedGen UID:
506411
Concept ID:
CN116612
Finding
The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm.

Recent clinical studies

Etiology

Chen M, Lee CP, Lin SM, Lam YH, Tang RY, Tse HY, Tang MH
J Matern Fetal Neonatal Med 2014 Mar;27(4):342-5. Epub 2013 Jul 31 doi: 10.3109/14767058.2013.818122. [Epub ahead of print] PMID: 23795710
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. [Epub ahead of print] PMID: 23988219
Gaudineau A, Doray B, Schaefer E, Sananès N, Fritz G, Kohler M, Alembik Y, Viville B, Favre R, Langer B
Prenat Diagn 2013 Mar;33(3):238-41. Epub 2013 Jan 24 doi: 10.1002/pd.4051. [Epub ahead of print] PMID: 23345196
Scholl J, Durfee SM, Russell MA, Heard AJ, Iyer C, Alammari R, Coletta J, Craigo SD, Fuchs KM, D'Alton M, House M, Jennings RW, Ecker J, Panda B, Tanner C, Wolfberg A, Benson CB
Obstet Gynecol 2012 Sep;120(3):551-9. doi: 10.1097/AOG.0b013e318264f829. PMID: 22872145
Kameda T, Yamada S, Uwabe C, Suganuma N
Congenit Anom (Kyoto) 2012 Mar;52(1):48-54. doi: 10.1111/j.1741-4520.2011.00349.x. PMID: 22348783

Diagnosis

Vičić A, Hafner T, Wagner J, Stipoljev F
Coll Antropol 2014 Sep;38(3):1059-62. PMID: 25420396
Chen M, Lee CP, Lin SM, Lam YH, Tang RY, Tse HY, Tang MH
J Matern Fetal Neonatal Med 2014 Mar;27(4):342-5. Epub 2013 Jul 31 doi: 10.3109/14767058.2013.818122. [Epub ahead of print] PMID: 23795710
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. [Epub ahead of print] PMID: 23988219
Gaudineau A, Doray B, Schaefer E, Sananès N, Fritz G, Kohler M, Alembik Y, Viville B, Favre R, Langer B
Prenat Diagn 2013 Mar;33(3):238-41. Epub 2013 Jan 24 doi: 10.1002/pd.4051. [Epub ahead of print] PMID: 23345196
Scholl J, Durfee SM, Russell MA, Heard AJ, Iyer C, Alammari R, Coletta J, Craigo SD, Fuchs KM, D'Alton M, House M, Jennings RW, Ecker J, Panda B, Tanner C, Wolfberg A, Benson CB
Obstet Gynecol 2012 Sep;120(3):551-9. doi: 10.1097/AOG.0b013e318264f829. PMID: 22872145

Prognosis

Chen M, Lee CP, Lin SM, Lam YH, Tang RY, Tse HY, Tang MH
J Matern Fetal Neonatal Med 2014 Mar;27(4):342-5. Epub 2013 Jul 31 doi: 10.3109/14767058.2013.818122. [Epub ahead of print] PMID: 23795710
Gaudineau A, Doray B, Schaefer E, Sananès N, Fritz G, Kohler M, Alembik Y, Viville B, Favre R, Langer B
Prenat Diagn 2013 Mar;33(3):238-41. Epub 2013 Jan 24 doi: 10.1002/pd.4051. [Epub ahead of print] PMID: 23345196
Scholl J, Durfee SM, Russell MA, Heard AJ, Iyer C, Alammari R, Coletta J, Craigo SD, Fuchs KM, D'Alton M, House M, Jennings RW, Ecker J, Panda B, Tanner C, Wolfberg A, Benson CB
Obstet Gynecol 2012 Sep;120(3):551-9. doi: 10.1097/AOG.0b013e318264f829. PMID: 22872145

Clinical prediction guides

Vičić A, Hafner T, Wagner J, Stipoljev F
Coll Antropol 2014 Sep;38(3):1059-62. PMID: 25420396
Gaudineau A, Doray B, Schaefer E, Sananès N, Fritz G, Kohler M, Alembik Y, Viville B, Favre R, Langer B
Prenat Diagn 2013 Mar;33(3):238-41. Epub 2013 Jan 24 doi: 10.1002/pd.4051. [Epub ahead of print] PMID: 23345196

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