Eventration of the diaphragm, Perinatal care, Trisomy 18
Citation Information :
Ito K, Hasegawa J, Nishimura Y, Furuya N, Homma C, Kondo H, Suzuki N. Eventration of the Diaphragm in Trisomy 18: Providing Information and Helping Choose a Treatment and Management Plan with an Exact Diagnosis. Donald School J Ultrasound Obstet Gynecol 2022; 16 (2):160-162.
Trisomy 18 is one of the most common aneuploidies, and its prognosis is controversial due to the low survival rate associated with it. Thus, intensive management and treatment strategies for this genetic trisomy syndrome are essential. Because patients with trisomy 18 exhibit severe neurodevelopmental delay in long-term survival, treatment strategies can be complex and difficult. This study describes a complex case of trisomy 18 with rapid changes and complications in the third trimester. These complications made differentiation between diaphragmatic hernia and diaphragmatic eventration on ultrasound difficult. Since this case was associated with rapid changes and required rapid delivery, close examination was not possible. Further, it is difficult to provide information and help decide whether to intervene without an exact diagnosis. In conclusion, an interdisciplinary team approach, including parental involvement, is vital for helping families to make appropriate decisions. For this reason, an accurate ultrasound diagnosis is necessary.
Cereda A, Carey JC. The trisomy 18 syndrome. Orphanet J Rare Dis 2012;7:81. DOI: 10.1186/1750-1172-7-81
Imataka G, Suzumura H, Arisaka O. Clinical features and survival in individuals with trisomy 18: a retrospective one-center study of 44 patients who received intensive care treatments. Mol Med Rep 2016;13(3):2457–2466. DOI: 10.3892/mmr.2016.4806
Betremieux P, Lionnais S, Beuchee A, et al. Perinatal management and outcome of prenatally diagnosed congenital diaphragmatic hernia: a 1995–2000 series in Rennes University Hospital. Prenat Diagn 2002;22(11):988–994. DOI: 10.1002/pd.454
Leeuwen L, Fitzgerald DA. Congenital diaphragmatic hernia. J Paediatr Child Health 2014;50(9):667–773. DOI: 10.1111/jpc.12508
Van Meurs K, Lou Short B. Congenital diaphragmatic hernia: the neonatologist's perspective. Pediatr Rev 1999;20(10): e79–e87. DOI: 10.1542/pir.20-10-e79
Wayne ER, Campbell JB, Burrington JD, et al. Eventration of the diaphragm. J Pediatr Surg 1974;9(5):643–651. DOI: 10.1016/0022-3468(74)90101-8
Jeanty C, Nien JK, Espinoza J, et al. Pleural and pericardial effusion: a potential ultrasonographic marker for the prenatal differential diagnosis between congenital diaphragmatic eventration and congenital diaphragmatic hernia. Ultrasound Obstet Gynecol 2007;29(4):378–387. DOI: 10.1002/uog.3958
Meyer RE, Liu G, Gilboa SM, et al. Survival of children with trisomy 13 and trisomy 18: a multi-state population-based study. Am J Med Genet A 2016;170A(4):825–837. DOI: 10.1002/ajmg.a.37495
Ferreira de Souza LM, Galvao EBMA, Junior JPR, et al. Long survival of a patient with trisomy 18 and Dandy-Walker Syndrome. Medicina (Kaunas) 2019;55(7):352. DOI: 10.3390/medicina55070352
Neubauer K, Boss RD. Ethical considerations for cardiac surgical interventions in children with trisomy 13 and trisomy 18. Am J Med Genet C Semin Med Genet 2020;184(1):187–191. DOI: 10.1002/ajmg.c.31767
Kochan M, Cho E, Mercurio M, et al. Disagreement about surgical intervention in trisomy 18. Pediatrics 2021;147(1):e2020010686. DOI: 10.1542/peds.2020-010686