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Diseases

Genetic and Rare Diseases Information Center (GARD)

Fetal cystic hygroma


Other Names for this Disease
  • Cystic hygroma fetal
  • FCH
  • Nuchal bleb, familial
Related Diseases
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Overview

Fetal cystic hygroma is a congenital malformation of the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. In the fetus, a cystic hygroma can progress to hydrops (an excess amount of fluid in the body) and eventually lead to fetal death. Some cases resolve leading to webbed neck, edema (swelling), and a lymphangioma (a benign yellowish-tan tumor on the skin composed of swollen lymph vessels). In other instances, the hygroma can progress in size to become larger than the fetus. Cystic hygromas can be classified as septated (multiloculated) or nonseptated (simple). Cystic hygromas can occur as an isolated finding or in association with other birth defects as part of a syndrome (chromosomal abnormalities or syndromes caused by gene mutations). They may result from environmental factors (maternal virus infection or alcohol abuse during pregnancy), genetic factors, or unknown factors. The majority of prenatally diagnosed cystic hygromas are associated with Turner syndrome or other chromosomal abnormalities like trisomy 21. Isolated cystic hygroma can be inherited as an autosomal recessive disorder.[1][2] Fetal cystic hygroma have being treated with OK-432, a lyophilized mixture of Group A Streptococcus pyogenes and benzyl penicillin, and with serial thoracocentesis plus paracentesis.[2]
Last updated: 2/27/2016

References

  1. Cystic Hygroma. Emory University School of Medicine. 2008; http://genetics.emory.edu/documents/resources/Emory_Human_Genetics_Cystic_Hygroma.PDF.
  2. Acevedo JL. Cystic Hygroma Treatment & Management. UpToDate. March 11, 2015; http://emedicine.medscape.com/article/994055-treatment#d6.
  3. Lu D, Wang Y, Zeng W & Peng B. Giant fetal lymphangioma at chest wall and prognosis: case report and literature review. Taiwan J Obstet Gynecol. February, 2015; 54(1):62-5. http://www.tjog-online.com/article/S1028-4559(14)00209-5/fulltext.
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In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Fetal cystic hygroma. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cystic hygroma fetal
  • FCH
  • Nuchal bleb, familial
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.