Genetic testing for cystic hygroma

Open access

Abstract

Cystic hygroma (CH) is characterized by abnormal accumulation of fluid in the region of the fetal neck and is a major anomaly associated with aneuploidy. Morphologically characterized by failure of the lymphatic system to communicate with the venous system in the neck, the clinical manifestations of CH depend on its size and location. Incidence is estimated at one case per 6000-16,000 live births. CH has autosomal dominant or autosomal recessive inheritance. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

1. Chen CP, Chien SC. Prenatal sonographic features of Turner syndrome. J Med Ultrasound 2007; 15: 251-257.

2. De Vigan C, Baena N, Cariati E, Clementi M, Stoll C. EUROSCAN Working Group. Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe. Ann Genet. 2001; 44(4): 209-17.

3. Sanhal CY, Mendilcioglu I, Ozekinci M, Yakut S, Merdun Z, Simsek M, Luleci G. Prenatal management, pregnancy and pediatric outcomes in fetuses with septated cystic hygroma. Brazilian Journal of Medical and Biological Research 2014; 47(9): 799-803.

4. Chervenak FA, Isaacson G, Blakemore KJ, Breg WR, Hobbins JC, Berkowitz RL, Tortora M, Mayden K, Mahoney MJ. Fetal cystic hygroma. Cause and natural history. N Engl J Med. 1983; 309(14): 822-5.

5. Cystic hygroma. Genetic and Rare Diseases Information Center (GARD). 2017 Retrieved from: https://rarediseases.info.nih.gov/diseases/6234/cystic-hygroma#ref_13704

6. Lymphatic Malformations. NORD. (2016); Retrieved from: https://rarediseases.org/rare-diseases/lymphatic-malformations/.

7. Cystic hygroma. MedlinePlus. (2015) Retrieved from: http://www.nlm.nih.gov/medlineplus/ency/article/000148.htm.

8. Acevedo JL, Lymphatic Malformation (Cystic Hygroma). (2016) © 1994-2017 by WebMD LLC. Retrivied from: https://emedicine.medscape.com/article/994055-overview

9. Bianca S, Bartoloni G, Boemi G, Barrano B, Barone C, Cataliotti A, Indaco L, Ettore G. Familial nuchal cystic hygroma without fetal effects: Genetic counselling and further evidence for an autosomal recessive subtype. Congenit Anom (Kyoto) 2010; 50(2): 139-40.

10. Kamble V, Bhatia T, Patil Sh. Cystic hygroma with hydrops fetalis: a rare case report. Int J Reprod Contracept Obstet Gynecol 2017; 3(3): 847-50.

11. Tricoire J, Sarramon MF, Rolland M, Lefort G. Familial cystic hygroma. Report of 8 cases in 3 families. Genet Couns 1993; 4(4): 265-9.

12. Rotmensch S, Celentano C, Sadan O, Liberati M, Lev D, Glezerman M. Familial occurrence of isolated nonseptated nuchal cystic hygromata in midtrimester of pregnancy. Prenat Diagn 2004; 24: 260-264.

13. Ghalamkarpour A, Debauche C, Haan E, Van Regemorter N, Sznajer Y, Thomas D, Revencu N, Gillerot Y, Boon LM, Vikkula M. Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2. J Pediatr 2009; 155 (1): 90-93.

14. Teague KE, Eggleston MK, Muffley PE, Gherman RB. Recurrent fetal cystic hygroma with normal chromosomes: case report and review of the literature. J Matern Fetal Med 2000; 9(6): 366-369.

15. Baxi L, Brown S, Desai K, Thaker H. Recurrent cystic hygroma with hydrops. Fetal Diagn Ther 2009; 25(1): 127-129.

16. Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and „patchy” expression in the mosaic father. Am J Med Genet A 2007; 143A(23): 2815-20.

17. Wilmink FA, Papatsonis DN, Grijseels EW, Wessels MW. Cornelia de lange syndrome: a recognizable fetal phenotype. Fetal Diagn Ther 2009; 26(1): 50-3.

18. Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, van de Laar IMBM, Martens L, Ockeloen C, Mathijssen IB, Schepens M, Ruiterkamp-Versteeg M, Scheffer H, Faas BHW, van der Burgt I, Yntema HG. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. Eur J Hum Genet 2013 Sep; 21(9): 936–42.

19. Haye D, Collet C, Sembely-Taveau C, Haddad G, Denis C, Soulé N, Suc AL, Listrat A, Toutain A. Prenatal findings in carpenter syndrome and a novel mutation in RAB23. Am J Med Genet A. 2014; 164A(11): 2926-30.

20. Pannier E, Viot G, Aubry MC, Grange G, Tantau J, Fallet-Bianco C, Muller F, Cabrol D. Congenital erythropoietic porphyria (Günther’s disease): two cases with very early prenatal manifestation and cystic hygroma. Prenat Diagn 2003; 23(1): 25-30.

21. Chen CP. Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. Taiwan J Obstet Gynecol 2012; 51(1): 12-7.

22. Abdalla E, Ravenscroft G, Zayed L, Beecroft SJ, Laing NG. Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene. Neuromuscul Disord 2017; 27(6): 537-41.

23. Garabedian MJ, Wallerstein D, Medina N, Byrne J, Wallerstein RJ. Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes. Case Rep Genet 2012; 2012: 490408.

24. ClinicalTrials.gov® [Internet]. U.S. National Library of Medicine.

Journal Information

Metrics

All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 55 55 20
PDF Downloads 39 39 19