There have been an increasing number of publications related to trisomy 18 associated with a shift in the philosophy of care. The objective of this review is to understand the scope of contemporary literature informing the care of children born alive with trisomy 18.
Methods
Included was peer-reviewed, primary literature in MEDLINE, Embase, CINAHL, Scopus, Web of Science, and Cochrane Library from 2012 to 2023 reporting outcomes of children born alive with trisomy 18. Data extraction involved descriptive statistics of the types of studies, and an inductive thematic analysis of the questions addressed by the studies.
Results
Of 4628 records identified, 229 met inclusion criteria. Key themes were organized around the domains: What is trisomy 18? What are the chances of survival with trisomy 18? What can be done to improve the chances of survival with trisomy 18? How do children with trisomy 18 die? Do surgical interventions provide a benefit? Are there non-surgical options? What knowledge is informing medical management? How is life described for children with trisomy 18? What are children with trisomy 18 like as babies and as they get older? What is life like for families caring for children with trisomy 18?
Conclusions
A sizeable number of publications grouped trisomy 18 with other syndromes. Relatively few showed the longitudinal evolution of medical issues associated with trisomy 18, nor did they unfold the clinical heterogeneity of this population. This review shows the limited knowledge base guiding decision-making and care for children born alive with trisomy 18.
LorenzJMHardartGE. Evolving medical and surgical management of infants with trisomy 18. Curr Opin Pediatr2014; 26(2): 169–176. DOI: 10.1097/MOP.0000000000000076.
2.
CareyJC. Management of children with the trisomy 18 and trisomy 13 syndromes: is there a shift in the paradigm of care?Am J Perinatol2021; 38(11): 1122–1125. DOI: 10.1055/s-0041-1732363.
3.
SilberbergARobettoJGrimauxG, et al.Ethical issues about the paradigm shift in the treatment of children with trisomy 18. Eur J Pediatr2020; 179(3): 493–497. DOI: 10.1007/s00431-019-03531-4.
4.
CarvajalHGCallahanCPMillerJR, et al.Cardiac surgery in trisomy 13 and 18: a guide to clinical decision-making. Pediatr Cardiol2020; 41(7): 1319–1333. DOI: 10.1007/s00246-020-02444-6.
5.
NeubauerKBossRD. Ethical considerations for cardiac surgical interventions in children with trisomy 13 and trisomy 18. Am J Med Genet C Semin Med Genet2020; 184(1): 187–191. DOI: 10.1002/ajmg.c.31767.
6.
JanvierAFarlowBBarringtonK. Cardiac surgery for children with trisomies 13 and 18: where are we now?Semin Perinatol2016; 40(4): 254–260. DOI: 10.1053/j.semperi.2015.12.015.
7.
AppelRGrushAEUpadhyayaRM, et al.Ethical implications of cleft lip and palate repair in patients with trisomy 13 and trisomy 18. Cleft Palate Craniofac J; 61(8): 1383–1388. DOI: 10.1177/10556656231163722.
8.
StadlerJA3rd. Neurosurgical evaluation and management of patients with chromosomal abnormalities. Neurosurg Clin2022; 33(1): 61–65. DOI: 10.1016/j.nec.2021.09.012.
9.
KeppleJWFishlerKPPeeplesES. Surveillance guidelines for children with trisomy 18. Am J Med Genet2021; 185(4): 1294–1303. DOI: 10.1002/ajmg.a.62097.
WeaverMSAndersonVBeckJ, et al.Interdisciplinary care of children with trisomy 13 and 18. Am J Med Genet2021; 185(3): 966–977. DOI: 10.1002/ajmg.a.62051.
12.
HaugSGoldsteinMCumminsD, et al.Using patient-centered care after a prenatal diagnosis of trisomy 18 or trisomy 13: a review. JAMA Pediatr2017; 171(4): 382–387. DOI: 10.1001/jamapediatrics.2016.4798.
13.
AndrewsSEDowneyAGShowalterDS, et al.Shared decision making and the pathways approach in the prenatal and postnatal management of the trisomy 13 and trisomy 18 syndromes. Am J Med Genet C Semin Med Genet2016; 172(3): 257–263. DOI: 10.1002/ajmg.c.31524.
14.
LeuthnerSRAcharyaK. Perinatal counseling following a diagnosis of trisomy 13 or 18: incorporating the facts, parental values, and maintaining choices. Adv Neonatal Care2020; 20(3): 204–215. DOI: 10.1097/ANC.0000000000000704.
15.
CareyJCKoshoT. Perspectives on the care and advances in the management of children with trisomy 13 and 18. Am J Med Genet C Semin Med Genet2016; 172(3): 249–250. DOI: 10.1002/ajmg.c.31527.
16.
TriccoACLillieEZarinW, et al.PRISMA extension for scoping reviews (PRISMA-ScR): checklist and explanation. Ann Intern Med2018; 169(7): 467–473. DOI: 10.7326/M18-0850.
17.
DaudtHMvan MosselCScottSJ. Enhancing the scoping study methodology: a large, inter-professional team's experience with Arksey and O'Malley’s framework. BMC Med Res Methodol2013; 13: 48. DOI: 10.1186/1471-2288-13-48.
AcharyaKLeuthnerSClarkR, et al.Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18. J Perinatol2017; 37(4): 420–426. DOI: 10.1038/jp.2016.245.
22.
AcharyaKLeuthnerSRZanilettiI, et al.Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children's hospitals neonatal intensive care units (NICUs). J Perinatol2021; 41(7): 1745–1754. DOI: 10.1038/s41372-021-01111-9.
23.
Akgün DoğanÖÜrel DemirGArslanU, et al.Prenatal and postnatal follow-up in trisomies 13 and 18: a 20-year experience in a tertiary center. Am J Perinatol2018; 35(5): 427–433. DOI: 10.1055/s-0037-1608632.
24.
AloreEAFallonSCThomasJA, et al.Outcomes after extracorporeal life support cannulation in pediatric patients with trisomy 13 and trisomy 18. J Surg Res2021; 257: 260–266. DOI: 10.1016/j.jss.2020.07.036.
25.
ArthurJDGuptaD. “You Can Carry the Torch Now:” A qualitative analysis of parents' experiences caring for a child with trisomy 13 or 18. HEC Forum2017; 29(3): 223–240. DOI: 10.1007/s10730-017-9324-5.
26.
BensonJStewartCKennaMA, et al.Otolaryngologic manifestations of trisomy 13 and trisomy 18 in pediatric patients. Laryngoscope2023; 133(6): 1501–1506. DOI: 10.1002/lary.30350.
27.
BoghossianNSHansenNIBellEF, et al.Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18. Pediatrics2014; 133(2): 226–235. DOI: 10.1542/peds.2013-1702.
28.
BraddockBMcDanielJSpraggeS, et al.Communication ability in persons with trisomy 18 and trisomy 13. Augment Altern Commun2012; 28(4): 266–277. DOI: 10.3109/07434618.2012.706637.
29.
BrunsDA. Developmental status of 22 children with trisomy 18 and eight children with trisomy 13: implications and recommendations. Am J Med Genet2015; 167A(8): 1807–1815. DOI: 10.1002/ajmg.a.37102.
30.
BrunsDMartinezACampbellEA. Oral health needs in individuals with trisomy 18 and trisomy 13: implications for dental professionals. Spec Care Dent2016; 36(1): 18–24. DOI: 10.1111/scd.12146.
31.
CooperDSRiggsKWZafarF, et al.Cardiac surgery in patients with trisomy 13 and 18: an analysis of the society of thoracic surgeons congenital heart surgery database. J Am Heart Assoc2019; 8(13): e012349. DOI: 10.1161/JAHA.119.012349.
32.
CorsanoBSacchiniDPapacciP, et al.Clinical-ethical approach to trisomy 18: a disease incompatible with life?Med e Morale2022; 71(2): 201–215. DOI: 10.4081/mem.2022.1208.
33.
DomingoLCareyJCEckhauserA, et al.Mortality and resource use following cardiac interventions in children with trisomy 13 and trisomy 18 and congenital heart disease. Pediatr Cardiol2019; 40(2): 349–356. DOI: 10.1007/s00246-018-2001-x.
34.
Dotters-KatzSKCarlsonLMJohnsonJ, et al.Management of pregnancy and survival of infants with trisomy 13 or trisomy 18. Am J Perinatol2016; 33(12): 1121–1127. DOI: 10.1055/s-0036-1585580.
35.
DuqueJAPFerreiraCFZachiaSA, et al.The natural history of pregnancies with prenatal diagnosis of trisomy 18 or trisomy 13: retrospective cases of a 23-year experience in a Brazilian public hospital. Genet Mol Biol2019; 42(Suppl 1): 286–296. DOI: 10.1590/1678-4685-GMB-2018-0099.
36.
FujiiYKandaEHirabayashiM, et al.The diagnostic significance of comorbidities of congenital heart diseases, low-set ears, and intrauterine growth restriction in neonates with trisomies 13 and 18. Iran J Pediatr2016; 26(4): e3783. DOI: 10.5812/ijp.3783.
37.
Furlong-DillardJMAmulaVBaillyDK, et al.Use of extracorporeal membrane oxygenation and mortality in pediatric cardiac surgery patients with genetic conditions: a multicenter analysis. Pediatr Crit Care Med2017; 18(9): 850–858. DOI: 10.1097/PCC.0000000000001225.
38.
Furlong-DillardJBaillyDAmulaV, et al.Resource use and morbidities in pediatric cardiac surgery patients with genetic conditions. J Pediatr2018; 193: 139–146.e1. DOI: 10.1016/j.jpeds.2017.09.085.
39.
GlinianaiaSVRankinJTanJ, et al.Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study. Arch Dis Child2023; 108(6): 461–467. DOI: 10.1136/archdischild-2022-325068.
40.
GoelNMorrisJKTuckerD, et al.Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis. Am J Med Genet2019; 179(12): 2382–2392. DOI: 10.1002/ajmg.a.61365.
41.
GuonJWilfondBSFarlowB, et al.Our children are not a diagnosis: the experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18. Am J Med Genet2014; 164A(2): 308–318. DOI: 10.1002/ajmg.a.36298.
42.
HafeziNJensenARSaenzZM, et al.Surgical history and outcomes in trisomy 13 and 18: a thirty-year review. J Pediatr Surg2023; 58(8): 1512–1519. DOI: 10.1016/j.jpedsurg.2022.10.010.
43.
HaghnazarianEHuJSongAY, et al.The association of trisomy 13 and 18 and hospital discharge outcomes among neonates in California: a retrospective cohort study. Pediatr Neonatol2019; 60(6): 617–622. DOI: 10.1016/j.pedneo.2019.02.007.
44.
HiranoHTaniguchiYKatoM. High-flow nasal cannula oxygen therapy for respiratory management after postoperative re-intubation/re-extubation in patients with trisomy 18 and trisomy 13: two case reports. Clin Case Rep2023; 11(3): e7090. DOI: 10.1002/ccr3.7090.
45.
IshitsukaKMatsuiHMichihataN, et al.Medical procedures and outcomes of Japanese patients with trisomy 18 or trisomy 13: analysis of a nationwide administrative database of hospitalized patients. Am J Med Genet2015; 167A(8): 1816–1821. DOI: 10.1002/ajmg.a.37104.
46.
JanvierAFarlowBWilfondBS. The experience of families with children with trisomy 13 and 18 in social networks. Pediatrics2012; 130(2): 293–298. DOI: 10.1542/peds.2012-0151.
47.
JanvierAFarlowBBarringtonKJ. Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18. Am J Med Genet C Semin Med Genet2016; 172(3): 279–287. DOI: 10.1002/ajmg.c.31526.
48.
JanvierAFarlowBBarringtonKJ, et al.Building trust and improving communication with parents of children with trisomy 13 and 18: a mixed-methods study. Palliat Med2020; 34(3): 262–271. DOI: 10.1177/0269216319860662.
49.
JosephsenJBArmbrechtESBraddockSR, et al.Procedures in the 1st year of life for children with trisomy 13 and trisomy 18, a 25-year, single-center review. Am J Med Genet C Semin Med Genet2016; 172(3): 264–271. DOI: 10.1002/ajmg.c.31525.
50.
KarimnejadKCostaDJ. Otolaryngologic surgery in children with trisomy 18 and 13. Int J Pediatr Otorhinolaryngol2015; 79(11): 1831–1833. DOI: 10.1016/j.ijporl.2015.08.017.
51.
KawasakiHYamadaTTakahashiY, et al.The short-term mortality and morbidity of very low birth weight infants with trisomy 18 or trisomy 13 in Japan. J Hum Genet2021; 66(3): 273–285. DOI: 10.1038/s10038-020-00825-6.
52.
KeppleJWPeeplesES. Direct hyperbilirubinemia and cholestasis in trisomy 13 and 18. Am J Med Genet2022; 188(2): 548–555. DOI: 10.1002/ajmg.a.62552.
53.
KettlerEBBhattacharjeeRLesserD, et al.Sleep disordered breathing in children with trisomy 13 and trisomy 18. Am J Otolaryngol2020; 41(6): 102555. DOI: 10.1016/j.amjoto.2020.102555.
54.
KoivusaloAISuominenJSPakarinenMP. Oesophageal atresia with very low birth weight: clinical characteristics and long-term outcome. J Pediatr Surg2022; 57(2): 192–194. DOI: 10.1016/j.jpedsurg.2021.10.047.
55.
KosivKAGossettJMBaiS. Collins RT 2nd. Congenital heart surgery on in-hospital mortality in trisomy 13 and 18. Pediatrics2017; 140(5): e20170772. DOI: 10.1542/peds.2017-0772.
56.
KosivKALongJLeeHC. Collins RT 2nd. A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18. Am J Med Genet2021; 185(3): 806–813. DOI: 10.1002/ajmg.a.62044.
57.
KusztrichAHüsemanDGartenL, et al.Überleben, medizinische Betreuung und Lebensqualität von Kindern mit Trisomie 13 und 18 [Survival, medical care and quality of life in children with trisomy 13 and 18]. Klin Pädiatr2016; 228(5): 240–244. DOI: 10.1055/s-0042-113131.
58.
LiangCABraddockBAHeithausJL, et al.Reported communication ability of persons with trisomy 18 and trisomy 13. Dev Neurorehabil2015; 18(5): 322–329. DOI: 10.3109/17518423.2013.847980.
59.
MaMHHeWBenavidezOJ. Congenital heart surgical admissions in patients with trisomy 13 and 18: frequency, morbidity, and mortality. Pediatr Cardiol2019; 40(3): 595–601. DOI: 10.1007/s00246-018-2032-3.
60.
MarengoLKArcherNShumateC, et al.Survival of infants and children born with severe microcephaly, Texas, 1999-2015. Birth Defects Res2023; 115(1): 26–42. DOI: 10.1002/bdr2.2109.
61.
MeyerRELiuGGilboaSM, et al.Survival of children with trisomy 13 and trisomy 18: a multi-state population-based study. Am J Med Genet2016; 170A(4): 825–837. DOI: 10.1002/ajmg.a.37495.
62.
MilliganMCPJacksonLEMaurerSH. Clinical course for patients with trisomy 13 and 18 pursuing life-prolonging therapies versus comfort-directed care. Am J Hosp Palliat Care2021; 38(10): 1225–1229. DOI: 10.1177/1049909120985210.
63.
NakashimaYMoriYSugiuraH, et al.Very low birth weight infants with congenital heart disease: a multicenter cohort study in Japan. J Cardiol2022; 80(4): 344–350. DOI: 10.1016/j.jjcc.2022.05.008.
64.
NelsonKEHexemKRFeudtnerC. Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics2012; 129(5): 869–876. DOI: 10.1542/peds.2011-2139.
65.
NelsonKERosellaLCMahantS, et al.Survival and surgical interventions for children with trisomy 13 and 18. JAMA2016; 316(4): 420–428. DOI: 10.1001/jama.2016.9819.
66.
NguyenJESalemiJLTannerJP, et al.Survival and healthcare utilization of infants diagnosed with lethal congenital malformations. J Perinatol2018; 38(12): 1674–1684. DOI: 10.1038/s41372-018-0227-3.
67.
PattersonJTaylorGSmithM, et al.Transitions in care for infants with trisomy 13 or 18. Am J Perinatol2017; 34(9): 887–894. DOI: 10.1055/s-0037-1600912.
68.
PetersonJKKochilasLKCattonKG, et al.Long-Term Outcomes of children with trisomy 13 and 18 after congenital heart disease interventions. Ann Thorac Surg2017; 103(6): 1941–1949. DOI: 10.1016/j.athoracsur.2017.02.068.
69.
PetersonRCalamurNFioreA, et al.Factors influencing outcomes after cardiac intervention in infants with trisomy 13 and 18. Pediatr Cardiol2018; 39(1): 140–147. DOI: 10.1007/s00246-017-1738-y.
70.
RosenblumJMKanterKRShashidharanS, et al.Cardiac surgery in children with trisomy 13 or trisomy 18: how safe is it?JTCVS Open2022; 12: 364–371. DOI: 10.1016/j.xjon.2022.09.005.
71.
SchmeddingAWittekindBSalzmann-ManriqueE, et al.Decentralized surgery of abdominal wall defects in Germany. Pediatr Surg Int2020; 36(5): 569–578. DOI: 10.1007/s00383-020-04647-7.
72.
SchmeddingAWittekindtBSchloesserR, et al.Outcome of esophageal atresia in Germany. Dis Esophagus2021; 34(4): doaa093. DOI: 10.1093/dote/doaa093.
73.
SpringerSKarnerEWordaC, et al.Outcome after prenatal diagnosis of trisomy 13, 18, and 21 in fetuses with congenital heart disease. Life2022; 12(8): 1223. DOI: 10.3390/life12081223.
74.
SwansonSKSchumacherKROhyeRG, et al.Impact of trisomy 13 and 18 on airway anomalies and pulmonary complications after cardiac surgery. J Thorac Cardiovasc Surg2021; 162(1): 241–249. DOI: 10.1016/j.jtcvs.2020.08.082.
75.
TaharaMShimozonoSNittaT, et al.Medial defects of the small pulmonary arteries in fatal pulmonary hypertension in infants with trisomy 13 and trisomy 18. Am J Med Genet2014; 164A(2): 319–323. DOI: 10.1002/ajmg.a.36282.
76.
WeaverMSBirgeNHsuH, et al.Mixed method study of quality of life for children with trisomy 18 and 13 after cardiac surgery. Cardiol Young2020; 30(2): 231–237. DOI: 10.1017/S1047951120000013.
77.
WeaverMSHauschildKBeaversAJ, et al.Bone fractures in children with trisomy 13 and 18. Am J Med Genet2020; 182(9): 2187–2190. DOI: 10.1002/ajmg.a.61745.
78.
WeaverMSLantosJHauschildK, et al.Communicating with parents of children with trisomy 13 or 18 who seek cardiac interventions. Cardiol Young2021; 31(3): 471–475. DOI: 10.1017/S1047951120004023.
79.
WinnPAcharyaKPetersonE, et al.Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18. J Perinatol2018; 38(7): 788–796. DOI: 10.1038/s41372-018-0107-x.
80.
WuJSpringettAMorrisJK. Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) in England and wales: 2004-2011. Am J Med Genet2013; 161A(10): 2512–2518. DOI: 10.1002/ajmg.a.36127.
81.
BoghossianNSHorbarJDCarpenterJH, et al.Major chromosomal anomalies among very low birth weight infants in the Vermont Oxford Network. J Pediatr2012; 160(5): 774–780.e11. DOI: 10.1016/j.jpeds.2011.11.005.
82.
BouzaglouADumeryGLetourneauA, et al.Management and survival of foetuses with trisomy 18 in a French retrospective cohort. J Gynecol Obstet Hum Reprod2023; 52(4): 102565. DOI: 10.1016/j.jogoh.2023.102565.
83.
BrunsDCampbellE. Twenty-two survivors over the age of 1 year with full trisomy 18: presenting and current medical conditions. Am J Med Genet2014; 164A(3): 610–619. DOI: 10.1002/ajmg.a.36318.
84.
BrunsDAMartinezA. An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18. Am J Med Genet2016; 170A(2): 337–343. DOI: 10.1002/ajmg.a.37427.
85.
BrunsDASpringerSA. Feeding changes in children with trisomy 18: longitudinal data on primary feeding method and reflux identification and treatment. Top Clin Nutr2013; 28(4): 324–334. DOI: 10.1097/01.TIN.0000437408.58941.d4.
86.
DonovanJHKrigbaumGBrunsDA. Medical interventions and survival by gender of children with trisomy 18. Am J Med Genet C Semin Med Genet2016; 172(3): 272–278. DOI: 10.1002/ajmg.c.31522.
87.
RosaRFRosaRCLorenzenMB, et al.Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations. Sao Paulo Med J2013; 131(2): 133–134. DOI: 10.1590/s1516-31802013000100025.
88.
RosaRFTrevisanPRosaRC, et al.Trisomy 18 and neural tube defects. Pediatr Neurol2013; 49(3): 203–204. DOI: 10.1016/j.pediatrneurol.2013.03.010.
89.
RosaRFRosaRCLorenzenMB, et al.Craniofacial abnormalities among patients with Edwards syndrome. Rev Paul Pediatr2013; 31(3): 293–298. DOI: 10.1590/S0103-05822013000300004.
90.
RosaRFRosaRCLorenzenMB, et al.Trisomy 18: frequency, types, and prognosis of congenital heart defects in a Brazilian cohort. Am J Med Genet2012; 158A(9): 2358–2361. DOI: 10.1002/ajmg.a.35492.
91.
SilvaCFerreiraMCSaraivaJ, et al.Trisomy 18-When the diagnosis is compatible with life. Eur J Pediatr2022; 181(7): 2809–2819. DOI: 10.1007/s00431-022-04477-w.
92.
JørgensenIFRussoFJensenAB, et al.Comorbidity landscape of the Danish patient population affected by chromosome abnormalities. Genet Med2019; 21(11): 2485–2495. DOI: 10.1038/s41436-019-0519-9.
93.
DucháčováMPavlíčekJPavlíčkováE, et al.Letální syndromy v pediatrii - tři příběhy trizomie 18 [Lethal syndromes in pediatrics - three cases of trisomy 18]. Pediatr praxis2023; 24(2): 111–115. DOI: 10.36290/ped.2023.033.
94.
HansahiranwadeeWBumrungphuetS. Perinatal and neonatal outcomes of the prenatal diagnosis of congenital heart disease in Ramathibodi hospital. J Med Assoc Thai2020; 103: 315–321.
95.
HasebeMIwataniSOhyamaS, et al.Lower birth weight in newborns with trisomy 18 and esophageal atresia. Am J Med Genet2021; 185(8): 2593–2596. DOI: 10.1002/ajmg.a.62249.
96.
HataiEMuneuchiJSugitaniY, et al.Pulmonary vascular resistance and compliance in individuals with trisomy 18. Am J Med Genet2022; 188(2): 534–539. DOI: 10.1002/ajmg.a.62550.
97.
ImatakaGSuzumuraHArisakaO. Clinical features and survival in individuals with trisomy 18: a retrospective one-center study of 44 patients who received intensive care treatments. Mol Med Rep2016; 13(3): 2457–2466. DOI: 10.3892/mmr.2016.4806.
98.
MatricardiSSpaliceASalpietroV, et al.Epilepsy in the setting of full trisomy 18: a multicenter study on 18 affected children with and without structural brain abnormalities. Am J Med Genet C Semin Med Genet2016; 172(3): 288–295. DOI: 10.1002/ajmg.c.31513.
99.
BrouwerMAMaeckelbergheELMvan der HoevenMAHBM, et al.Trisomie 18: hoe lethaal is ‘lethaal’? [Trisomy 18: how lethal is ‘lethal’?]. Ned Tijdschr Geneeskd2017; 161: D1716.
100.
Dall'AstaAGirardelliSUsmanS, et al.Etiology and perinatal outcome of periviable fetal growth restriction associated with structural or genetic anomaly. Ultrasound Obstet Gynecol2020; 55(3): 368–374. DOI: 10.1002/uog.20368.
101.
HaddadRNBenthamJAdel HassanA, et al.Outcomes of manually modified microvascular plugs to pulmonary flow restrictors in various congenital heart lesions. Front Cardiovasc Med2023; 10: 1150579. DOI: 10.3389/fcvm.2023.1150579.
102.
LastivkaIVBabintsevaAGHodovanetsYD, et al.Edwards syndrome lethal case of a newborn girl. Neonatol Surg Perinat Med2020; 10(4): 92–97. DOI: 10.24061/2413-4260.X.4.38.2020.11.
103.
BuskmillerCHoSChenM, et al.Patient-centered perinatal palliative care: family birth plans, outcomes, and resource utilization in a diverse cohort. Am J Obstet Gynecol MFM2022; 4(6): 100725. DOI: 10.1016/j.ajogmf.2022.100725.
104.
KatoEKitaseYTachibanaT, et al.Factors related to survival discharge in trisomy 18: a retrospective multicenter study. Am J Med Genet2019; 179(7): 1253–1259. DOI: 10.1002/ajmg.a.61146.
105.
SongIGShinSHChoYM, et al.Survival of children with trisomy 18 associated with the presence of congenital heart disease and intervention in the Republic of Korea. BMC Pediatr2023; 23(1): 252. DOI: 10.1186/s12887-023-04056-4.
106.
BajintingAMunoz-AbrahamASOseiH, et al.To operate or not to operate? Assessing NSQIP surgical outcomes in trisomy 18 patients. J Pediatr Surg2021; 56(3): 565–568. DOI: 10.1016/j.jpedsurg.2020.05.037.
107.
CortezzoDETolussoLKSwarrDT. Perinatal outcomes of fetuses and infants diagnosed with trisomy 13 or trisomy 18. J Pediatr2022; 247: 116–123.e5. DOI: 10.1016/j.jpeds.2022.04.010.
108.
DereddyNRPivnickEKUpadhyayK, et al.Neonatal hospital course and outcomes of live-born infants with trisomy 18 at two tertiary care centers in the United States. Am J Perinatol2017; 34(3): 270–275. DOI: 10.1055/s-0036-1586753.
109.
StewartCOwusu-BempahABoutallA, et al.Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: a 16-year experience from a public hospital in South Africa. Prenat Diagn2022; 42(13): 1643–1649. DOI: 10.1002/pd.6270.
110.
ImaiKUchiyamaAOkamuraT, et al.Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18. Am J Med Genet2015; 167A(11): 2610–2617. DOI: 10.1002/ajmg.a.37246.
111.
InoueHMatsunagaYSawanoT, et al.Survival outcomes of very low birth weight infants with trisomy 18. Am J Med Genet2021; 185(11): 3459–3465. DOI: 10.1002/ajmg.a.62466.
112.
HoriikeMMimuraHYokoiA. Prognosis and clinical issues of esophageal atresia in extremely low birth weight neonates: a case series. BMC Pediatr2023; 23(1): 401. DOI: 10.1186/s12887-023-04237-1.
113.
KawasakiHYamadaTTakahashiY, et al.Neonatal Research Network of Japan. Epidemiology of birth defects in very low birth weight infants in Japan. J Pediatr2020; 226: 106–111.e10. DOI: 10.1016/j.jpeds.2020.07.012.
114.
MizrahiMWellAGottliebEA, et al.Trisomy 18: disparities of care and outcomes in the state of Texas between 2009 and 2019. Cardiol Young2023; 33(11): 2328–2333. DOI: 10.1017/S1047951123000215.
115.
AkinkuotuACCruzSMCassDL, et al.An evaluation of the role of concomitant anomalies on the outcomes of fetuses with congenital diaphragmatic hernia. J Pediatr Surg2016; 51(5): 714–717. DOI: 10.1016/j.jpedsurg.2016.02.008.
116.
BurgosCMGuptaVSConnerP, et al.Syndromic congenital diaphragmatic hernia: current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry. Prenat Diagn2023; 43(10): 1265–1273. DOI: 10.1002/pd.6407.
117.
JerniganEGStrasslePDStebbinsRC, et al.Effect of concomitant birth defects and genetic anomalies on infant mortality in tetralogy of Fallot. Birth Defects Res2017; 109(14): 1154–1165. DOI: 10.1002/bdr2.1057.
118.
MayerMMMVelaphiSC. Incidence, types and outcomes of congenital anomalies in babies born at a public, tertiary hospital in South Africa. S Afr J Child Health2021; 15(4): 193–197. DOI: 10.7196/SAJCH.2021.v15i4.1810.
119.
Tan TannySPFearonEHawleyA, et al.Predictors of mortality after primary discharge from hospital in patients with esophageal atresia. J Pediatr2020; 219: 70–75. DOI: 10.1016/j.jpeds.2019.12.031.
120.
WatanabeSSuzukiTHaraF, et al.Omphalocele and gastroschisis in newborns: over 16 years of experience from a single clinic. J Neonatal Surg2017; 6(2): 27. DOI: 10.21699/jns.v6i2.530.
121.
ZaniAWolinskaJCobellisG, et al.Outcome of esophageal atresia/tracheoesophageal fistula in extremely low birth weight neonates (<1000 grams). Pediatr Surg Int2016; 32(1): 83–88. DOI: 10.1007/s00383-015-3816-7.
122.
SubramaniamAJacobsAPTangY, et al.Trisomy 18: a single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention. Am J Med Genet2016; 170A(4): 838–846. DOI: 10.1002/ajmg.a.37529.
123.
SutoMIsayamaTMorisakiN. Population-based analysis of secular trends in age at death in trisomy 18 syndrome in Japan from 1975 to 2016. Neonatology2021; 118(1): 47–53. DOI: 10.1159/000512922.
124.
TamakiSIwataniSIzumiA, et al.Improving survival in patients with trisomy 18. Am J Med Genet2022; 188(4): 1048–1055. DOI: 10.1002/ajmg.a.62605.
125.
MehlJMGelfondJCareyJC, et al.Causes of death in individuals with trisomy 18 after the first year of life. Am J Med Genet2024; 194(2): 279–287. DOI: 10.1002/ajmg.a.63436.
126.
IidaCMuneuchiJYamamotoJ, et al.Impacts of surgical interventions on the long-term outcomes in individuals with trisomy 18. J Pediatr Surg2020; 55(11): 2466–2470. DOI: 10.1016/j.jpedsurg.2019.12.009.
MoriyaNKawaseYSaitoK, et al.Positive medical and surgical interventions improve outcome of patients with trisomy 18. J Med Soc Toho Univ2020; 67(2): 47–52. DOI: 10.14994/tohoigaku.2019-033.
129.
NishiETakamizawaSIioK, et al.Surgical intervention for esophageal atresia in patients with trisomy 18. Am J Med Genet2014; 164A(2): 324–330. DOI: 10.1002/ajmg.a.36294.
130.
FogelströmACaldemanCOddsbergJ, et al.Omphalocele: national current birth prevalence and survival. Pediatr Surg Int2021; 37(11): 1515–1520. DOI: 10.1007/s00383-021-04978-z.
131.
MatthewsLJMpodyCNafiuOO, et al.Morbidity and mortality following noncardiac surgical procedures among children with autosomal trisomy. Paediatr Anaesth2022; 32(5): 631–636. DOI: 10.1111/pan.14415.
132.
FickTASexson TejtelSK. Trisomy 18 trends over the last 20 years. J Pediatr2021; 239: 206–211.e1. DOI: 10.1016/j.jpeds.2021.07.062.
133.
OsakaYAndoTKozonoY, et al.Succesful management of esophageal banding and gastrostomy for esophageal atresia in a trisomy 18 child with complex cardiac malformation. Masui2014; 63(11): 1266–1268.
134.
CostelloJPWeiderholdALouisC, et al.A contemporary, single-institutional experience of surgical versus expectant management of congenital heart disease in trisomy 13 and 18 patients. Pediatr Cardiol2015; 36(5): 987–992. DOI: 10.1007/s00246-015-1109-5.
135.
KwakJHSongJKangI-S, et al.Cardiac repair in patients with trisomy 18: total or palliative?Iran J Pediatr2021; 31(2): e112425. DOI: 10.5812/ijp.112425.
136.
NakaiYAsanoMNomuraN, et al.Effectiveness of cardiac surgery in patients with trisomy 18: a single-institutional experience. Cardiol Young2016; 26(7): 1391–1396. DOI: 10.1017/S1047951115002723.
137.
NakaiRFujiokaTOkamuraK, et al.Survival outcomes of two-stage intracardiac repair in large ventricular septal defect and trisomy 18. Pediatr Cardiol2021; 42(4): 821–831. DOI: 10.1007/s00246-021-02546-9.
138.
TakaiAYamagishiMIkedaK, et al.Effectiveness of cardiac palliative surgery for trisomy 18 patients with increased pulmonary blood flow. Am J Med Genet2023; 191(11): 2703–2710. DOI: 10.1002/ajmg.a.63401.
139.
TaharaMSanadaKMoritaR, et al.Insufficient development of vessels and alveoli in lungs of infants with trisomy 18-Features of pulmonary histopathological findings from lung biopsy. Am J Med Genet2021; 185(4): 1059–1066. DOI: 10.1002/ajmg.a.62060.
140.
KukoraSFirnJLaventhalN, et al.Infant with trisomy 18 and hypoplastic left heart syndrome. Pediatrics2019; 143(5): e20183779. DOI: 10.1542/peds.2018-3779.
141.
OztürkEOdemişEKıplapınarN. Percutaneous right ventricle outflow tract stenting in a patient with trisomy 18 associated with double outlet right ventricle. Turk Kardiyol Dernegi Arsivi2013; 41(5): 433–435. DOI: 10.5543/tkda.2013.07717.
142.
SourourWSinghapakdiKBartakianS. Balloon angioplasty of an aortic coarctation in a patient with Trisomy 18: a palliative procedure to help get these patient home. Am J Med Sci2023; 365(Suppl 1): S16. DOI: 10.1016/S0002-9629.
143.
TakamiTYodaHIshidaT, et al.Effects of indomethacin on patent ductus arteriosus in neonates with genetic disorders and/or congenital anomalies. Am J Perinatol2013; 30(7): 551–556. DOI: 10.1055/s-0032-1329185.
144.
ArunOOcBOcM, et al.Anesthetic management of a newborn with trisomy 18 undergoing closure of patent ductus arteriosus and pulmonary artery banding. Cardiovasc J Afr2014; 25(4): e10–e12. DOI: 10.5830/CVJA-2014-024.
145.
BaiWKlumpnerTZhaoX, et al.Difficult airway management in children with trisomy 18: a retrospective single-centre study of incidence, outcomes, and complications. Br J Anaesth2023; 130(6): e471–e473. DOI: 10.1016/j.bja.2023.02.022.
146.
BansalTSainiS. Edward’s syndrome: a rare cause of difficult intubation-utility of left molar approach. Egypt J Anaesth2016; 32(2): 227–228. DOI: 10.1016/j.egja.2015.09.009.
147.
BirminghamEEStuckeAGDiazCD. Anesthesia for children with complete trisomy 18 (Edwards syndrome): a cohort review of 84 anesthesia encounters in nine patients. Paediatr Anaesth2021; 31(4): 419–428. DOI: 10.1111/pan.14131.
148.
HoonSKKangSWKwakSH, et al.Hypoxia due to positive pressure ventilation in Edwards' syndrome: a case report. J Int Med Res2018; 46(2): 895–900. DOI: 10.1177/0300060517734680.
149.
KanoMSugiyamaDUedaK, et al.Anesthetic management of a patient with trisomy 18 undergoing esophageal banding and preceding gastrostomy-A case report. Clin Case Rep2022; 10(10): e6404. DOI: 10.1002/ccr3.6404.
150.
LucasDJRubinsteinJGosainA, et al.Surgical and anesthetic management for hepatectomy in two pediatric patients with trisomy 18, pulmonary hypertension, and hepatoblastoma. Pediatr Blood Cancer2019; 66(6): e27678. DOI: 10.1002/pbc.27678.
151.
MifsudSBezzinaMParisS. Anesthetic management of a patient with Edwards syndrome. Clin Case Rep2016; 4(8): 740–742. DOI: 10.1002/ccr3.595.
152.
TokuwakaJYamashitaSTakahashiS, et al.Anesthetic management for laparoscopic Nissen fundoplication in a 18 trisomy patient with congestive heart disease. Masui2013; 62(3): 326–329.
153.
TomarGSKumarSGoyalK, et al.Child with Edward’s syndrome for radiological procedure: an anesthetic challenge. Saudi J Anaesth2017; 11(4): 500–501. DOI: 10.4103/sja.SJA_157_17.
154.
TsukamotoMHitosugiTEsakiK, et al.The anesthetic management for a special needs patient with trisomy 18 accompanying untreated tetralogy of Fallot. Egypt J Anaesth2017; 33(2): 213–215. DOI: 10.1016/j.egja.2016.09.001.
155.
ZajonzTSRosenbaumELangerC, et al.Ein Kind mit Trisomie 18 und Stridor – erwartet schwieriger Atemweg mit unerwartetem Befund [A child with Trisomy 18 and stridor - Expected difficult airway with unexpected findings]. Anasthesiol Intensivmed2021; 62: 574–580. DOI: 10.19224/ai2021.574.
156.
AriagnoSThorvilsonMAndersenL, et al.Caffeine for the treatment of central apnea in trisomy 18: a case study in the novel use of methylxanthines in palliative transport. J Palliat Med2022; 25(5): 840–843. DOI: 10.1089/jpm.2021.0383.
157.
MiyakeAOkadaSIshikawaY. Successful use of oral prostaglandin E1 derivative for maintaining ductus-dependent systemic circulation in a neonate with trisomy 18. Cardiol Young2019; 29(9): 1222–1224. DOI: 10.1017/S1047951119001902.
158.
HanakiYMuneuchiJYamamotoJ, et al.Home high-flow nasal cannula therapy in children with congenital heart disease. Pediatr Cardiol2022; 43(5): 1131–1135. DOI: 10.1007/s00246-022-02834-y.
159.
TruittBAKallamEFPriceEW, et al.Outpatient utilization of the RAM cannula for nasal noninvasive ventilation in children. Clin Med Insights Pediatr2023; 17: 11795565231192965. DOI: 10.1177/11795565231192965.
160.
HaoLSunSXinL, et al.Trisomy-18, supportive care with neural-acupuncture: a case report. Integr Med2019; 18(4): 54–56.
161.
MullinJWolfeJBluebond-LangnerM, et al.Experiences of children with trisomy 18 referred to pediatric palliative care services on two continents. Am J Med Genet2019; 179(6): 903–907. DOI: 10.1002/ajmg.a.61149.
162.
FukasawaTKubotaTTanakaM, et al.Apneas observed in trisomy 18 neonates should be differentiated from epileptic apneas. Am J Med Genet2015; 167A(3): 602–606. DOI: 10.1002/ajmg.a.36929.
163.
CzosekRJBaskarSMohanS, et al.Incidence and outcome of arrhythmias and electrical disease in patients with Trisomy 18. Am J Med Genet2023; 191(10): 2518–2523. DOI: 10.1002/ajmg.a.63324.
164.
InoueASuzukiRUrabeK, et al.Therapeutic experience with hepatoblastoma associated with trisomy 18. Pediatr Blood Cancer2018; 65(8): e27093. DOI: 10.1002/pbc.27093.
165.
MuraseNKanekoKHamaA, et al.Hepatoblastoma associated with trisomy 18. J Pediatr Surg Case Rep2020; 52: 101342. DOI: 10.1016/j.epsc.2019.101342.
166.
TanZHLaiAChenCK, et al.Association of trisomy 18 with hepatoblastoma and its implications. Eur J Pediatr2014; 173(12): 1595–1598. DOI: 10.1007/s00431-013-2147-8.
167.
UekusaSSugitoKKawashimaH, et al.Successful treatment for hepatoblastoma in a 1-year-old boy with trisomy 18. Pediatr Int2012; 54(3): 428–430. DOI: 10.1111/j.1442-200X.2011.03528.x.
YadaKIshibashiHMoriH, et al.The role of surgical treatment in the multidisciplinary therapy for hepatoblastoma. Hepato-Gastroenterology2014; 61(131): 553–556.
170.
HayashiAKumadaTFurukawaO, et al.Severe acute abdomen caused by symptomatic Meckel's diverticulum in three children with trisomy 18. Am J Med Genet2015; 167A(10): 2447–2450. DOI: 10.1002/ajmg.a.37098.
171.
HuntingfordKMontaltoSAChoudhryM. A 3-year-old girl with trisomy 18 and intussusception with Meckel’s diverticulum. Am J Med Genet2015; 167A(9): 2226–2228. DOI: 10.1002/ajmg.a.37109.
172.
Cammarata-ScalisiFDiociaiutiAde GuerreroB, et al.Membranous aplasia cutis congenita in trisomy 18. Ital J Pediatr2020; 46(1): 120. DOI: 10.1186/s13052-020-00885-6.
173.
MirmohammadsadeghiAAkbariMRMalekpoorA. Ocular manifestations in Edward’s syndrome, a case report and literature review. J Curr Ophthalmol2017; 29(4): 329–331. DOI: 10.1016/j.joco.2017.06.005.
174.
KislalFMAltuntasNOzdemirO, et al.Unilateral ectrodactyly in a newborn with trisomy 18 syndrome: an unusual association. J Coll Physicians Surg Pak2015; 25(8): 619–620.
175.
JaspersenSLBrunsDACandeeMS, et al.Seizures in trisomy 18: prevalence, description, and treatment. Am J Med Genet2023; 191(4): 1026–1037. DOI: 10.1002/ajmg.a.63113.
176.
KobayashiYIshikawaNFujiiY, et al.A case of trisomy 18 with exacerbation of seizures triggered by administration of valproic acid. Am J Med Genet2014; 164A(1): 285–286. DOI: 10.1002/ajmg.a.36205.
177.
KumadaTMaiharaTHiguchiY, et al.Epilepsy in children with trisomy 18. Am J Med Genet2013; 161A(4): 696–701. DOI: 10.1002/ajmg.a.35763.
178.
AcarDEAcarUOzdemirO, et al.Microphthalmia in a case of Edward syndrome. Semin Ophthalmol2014; 29(2): 114–117. DOI: 10.3109/08820538.2013.874486.
179.
AtwalPS. A case of anterior segment dysgenesis with iridolenticular adhesions in trisomy 18. J Pediatr Genet2015; 4(4): 207–208. DOI: 10.1055/s-0035-1565266.
180.
Bustillos-VillaltaKQuiñones-CamposM. Síndrome de Edwards de larga supervivencia: Efecto del tratamiento rehabilitador integral. [Long-survival Edwards syndrome: Effect of comprehensive rehabilitative treatment]. Rev Méd Hered2014; 25(2): 89.
181.
BateesHAltirkawiKA. Trisomy 18 syndrome: towards a balanced approach. Sudan J Paediatr2014; 14(2): 76–84.
182.
BergSFPaulsenOGCarterBS. Why were they in such a hurry to see her die?Am J Hosp Palliat Care2013; 30(4): 406–408. DOI: 10.1177/1049909112465790.
183.
DemirNDoğanMPekerE, et al.A very rare entity of diabetes insipidus associated with Edwards syndrome. Genet Res2013; 95(4): 130–132. DOI: 10.1017/S0016672313000165.
184.
FarruggioSCarusoE. Double outlet right ventricle in the setting of hypoplastic left ventricle, mitral atresia, interruption of aortic arch, and uncommon intra-atrial anomalies in trisomy 18. Echocardiography2021; 38(8): 1359–1364. DOI: 10.1111/echo.15142.
185.
GerakovaEGenovaS. A rare case report of Edwards syndrome with immature teratoma in submandibular region and literature review. Folia Med (Plovdiv)2022; 64(2): 348–353. DOI: 10.3897/folmed.64.e61024.
186.
HayekDMassanyiEMancusoM, et al.Superior vesical fissure concealed by giant omphalocele: a case report. J Pediatr Surg Case Rep2016; 14: 26–28. DOI: 10.1016/j.epsc.2016.08.013.
187.
HuJDuWFangX, et al.A case of trisomy 18 presenting with severe facial abnormality and phocomelia. Int J Hum Genet2012; 12(4): 325–327. DOI: 10.1080/09723757.2012.11886187.
188.
KahramanerZErdemirACosarH, et al.An unusual case of trisomy 18 associated with paucity of bile ducts. Fetal Pediatr Pathol2013; 32(5): 337–340. DOI: 10.3109/15513815.2013.768736.
189.
KaramanAKahveciHLaloğluF. Trizomi 18 sendromu: Olgu sunumu. [Trisomy 18 syndrome: case report]. Bakırköy Tıp Dergisi2012; 8: 44–46. DOI: 10.5350/BTDMJB201208108.
190.
KeyPQiryaqozZSikkemaM, et al.Long-term survival of a 6-year-old with trisomy 18 after cardiac intervention: the emerging need for comprehensive guidelines beyond the newborn period. Prog Pediatr Cardiol2020; 57: 101225. DOI: 10.1016/j.ppedcard.2020.101225.
191.
KhanFJafriI. Characterization of a 16-year-old long-time survivor of Edwards syndrome. Cureus2021; 13(5): e15205. DOI: 10.7759/cureus.15205.
192.
KolliaMSokouRPatsourasG, et al.Congenital diaphragmatic hernia and double-outlet right ventricle: elements of trisomy 18?Case Rep Perinat Med2018; 7(1): 20170028. DOI: 10.1515/crpm-2017-0028.
193.
López-RíosVGrajales-MarínEGómez-ZambranoV, et al.Síndrome de Edwards con cardiopatía congénita de larga supervivencia: Reporte de caso y revisión de literatura. [Prolonged survival in Edwards syndrome with congenital heart disease: A case report and literature review]. Medwave2020; 20(8): e8015. DOI: 10.5867/medwave.2020.08.8015.
194.
MaidanASacksMARaymondSL, et al.Trisomy 18 and necrotizing enterocolitis. J Pediatr Surg Case Rep2022; 85: 102411. DOI: 10.1016/j.epsc.2022.102411.
195.
MatsumuraSMasutaniSSenzakiH. Spontaneous regression of severe aortic coarctation in trisomy 18. Cardiol Young2018; 28(5): 771–772. DOI: 10.1017/S1047951118000161.
196.
OkamotoMFukushimaSOkadaS, et al.Challenging management of a baby with congenital multiple intestinal atresia, trisomy 18 and extremely low birth weight: a case report. Surg Case Rep2023; 9(1): 177. DOI: 10.1186/s40792-023-01761-1.
197.
MatsuyamaSFujimotoKMatsuiF, et al.Ureteral reimplantation for vesicoureteral reflux in a patient with trisomy 18. Pediatr Int2018; 60(10): 989–990. DOI: 10.1111/ped.13686.
198.
OuttalebFZErrahliRImelloulN, et al.La trisomie 18 ou syndrome d'Edwards en post-natal: étude descriptive au Centre Hospitalier Universitaire de Casablanca et revue de littérature [Trisomy 18 or postnatal Edward’s syndrome: descriptive study conducted at the University Hospital Center of Casablanca and literature review]. Pan Afr Med J2020; 37: 309. DOI: 10.11604/pamj.2020.37.309.26205.
199.
RugolottoSBertoliniACogoI, et al.Epignato, sindrome del cuore sinistro ipoplasico e trisomia 18 in una gemella piccola per età gestazionale [Epignathus, hypolastic left heart syndrome, and trisomy 18 in a small for gestational age female twin]. Pediatr Med e Chir2013; 35(4): 191–193. DOI: 10.4081/pmc.2013.41.
200.
SaldarriagaWRengifo-MirandaHRamirez-CheyneJ. Trisomy 18 syndrome: a case report. Rev Chil Pediatr2016; 87(2): 129–136. DOI: 10.1016/j.rchipe.2015.08.006.
201.
SugiyamaMTerashitaYTakedaA, et al.Immune thrombocytopenia in a case of trisomy 18. Pediatr Int2020; 62(2): 240–242. DOI: 10.1111/ped.14116.
202.
ShresthaBMShresthaDShresthaS, et al.Hirschsprung disease with Edward syndrome: a rare association: a case report. Int J Surg Case Rep2021; 84: 106084. DOI: 10.1016/j.ijscr.2021.106084.
203.
SennaiyanUNKiruthikaSKrishnaMR. Septal defect with polyvalvular involvement: a cardiac imaging hallmark of trisomy 18. Ann Pediatr Cardiol2021; 14(4): 559–560. DOI: 10.4103/apc.apc_271_20.
204.
ShiotaMItoKShiratoY, et al.Unilateral internal carotid artery absence in trisomy 18. Brain Dev2022; 44(5): 357–360. DOI: 10.1016/j.braindev.2021.12.007.
205.
SzenejkoPAnzelewiczSCzaudernaP. Palliative surgery in a patient diagnosed with trisomy 18 and rare neurological comorbidities. Palliat Med Pract2021; 15(1): 76–79. DOI: 10.5603/PMPI.2021.0003.
206.
TakahashiYKinoshitaYKobayashiT, et al.The usefulness of OK-432 for the treatment of postoperative chylothorax in a low-birth-weight infant with trisomy 18. Clin Case Rep2022; 10(5): e05844. DOI: 10.1002/ccr3.5844.
207.
ŢarcăEPlămădealăPSavuB. Plurimalformative syndrome associating trisomy 18 and omphalocele. Case report and review of the literature. Rom J Morphol Embryol2014; 55(1): 209–213.
208.
VillegasVMChangJSHessDJ, et al.Congenital optic nerve pit in trisomy 18. J Pediatr Ophthalmol Strabismus2013; 50: e24–e26. DOI: 10.3928/01913913-20130528-02.
209.
WingateJRAdachiIFentonK, et al.Case 14--2014: tetralogy of Fallot with severe cyanosis in an infant with trisomy 18: ethical dilemmas in the perioperative period. J Cardiothorac Vasc Anesth2014; 28(6): 1677–1685. DOI: 10.1053/j.jvca.2014.04.004.
210.
TairaRInoueHSawanoT, et al.Management of apnea in infants with trisomy 18. Dev Med Child Neurol2020; 62(7): 874–878. DOI: 10.1111/dmcn.14403.
211.
BrownE. Everyone has a story to tell: the experiences of grandparents with a grandchild diagnosed with a genetic life-limiting condition. Int J Birth Parent Educ2015; 2(3): 16–18.
212.
BrownECoadJFranklinA. The impact of a sibling's life-limiting genetic condition on adult brothers and sisters. Am J Med Genet2017; 173(7): 1754–1762. DOI: 10.1002/ajmg.a.38213.
213.
ElliottKAhlawatNBeckmanES, et al.“I wouldn’t want anything that would change who he is.” the relationship between perceptions of identity and attitudes towards hypothetical gene-editing in parents of children with autosomal aneuploidies. SSM Qual Res Health2022; 2: 100151. DOI: 10.1016/j.ssmqr.2022.100151.
214.
OpokuPOsei-TutuAOti-BoadiM. Psychosocial impacts of caring for a child with a genetic disorder in Accra, Ghana. J Community Genet2023; 14(6): 565–574. DOI: 10.1007/s12687-023-00662-y.
215.
DavissonNAClarkJBChinTK, et al.Trisomy 18 and congenital heart disease: single-center review of outcomes and parental perspectives. World J Pediatr Congenit Heart Surg2018; 9(5): 550–556. DOI: 10.1177/2150135118782145.
216.
KoshoTKunibaHTanikawaY, et al.Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group. Am J Med Genet2013; 161A(7): 1531–1542. DOI: 10.1002/ajmg.a.35990.
217.
TamakiSIwataniSKatsunumaS, et al.Characteristics of hearing impairment in patients with trisomy 18. Am J Med Genet2024; 194(1): 107–110. DOI: 10.1002/ajmg.a.63358.
218.
ThielePBergSFFarlowB. More than a diagnosis. Acta Paediatr2013; 102(12): 1127–1129. DOI: 10.1111/apa.12411.
219.
ThorvilsonMJCopelandAJ. Incompatible with care: examining trisomy 18 medical discourse and families' counter-discourse for recuperative ethos. J Med Humanit2018; 39(3): 349–360. DOI: 10.1007/s10912-017-9436-6.
220.
SzabatM. Parental experience of hope in pediatric palliative care: critical reflections on an exemplar of parents of a child with trisomy 18. Nurs Inq2020; 27(2): e12341. DOI: 10.1111/nin.12341.
221.
PearsonA. Never say never about our child. BMJ2015; 350: h1246. DOI: 10.1136/bmj.h1246.
222.
WeaverMSStarrLJAustinPN, et al.Eliciting narratives to inform care for infants with trisomy 18. Pediatrics2018; 142(4): e20180321. DOI: 10.1542/peds.2018-0321.
223.
KidszunALinebargerJWalterJK, et al.What if the prenatal diagnosis of a lethal anomaly turns out to be wrong?Pediatrics2016; 137(5): e20154514. DOI: 10.1542/peds.2015-4514.
224.
WilfondBS. Tracheostomies and assisted ventilation in children with profound disabilities: navigating family and professional values. Pediatrics2014; 133(Suppl 1): S44–S49. DOI: 10.1542/peds.2013-3608H.
225.
LarcherVCraigFBhogalK, et al.Making decisions to limit treatment in life-limiting and life-threatening conditions in children: a framework for practice. Arch Dis Child2015; 100(Suppl 2): s3–s23. DOI: 10.1136/archdischild-2014-306666.
226.
BekeAErosFRPeteB, et al.Efficacy of prenatal ultrasonography in diagnosing urogenital developmental anomalies in newborns. BMC Pregnancy Childbirth2014; 14: 82. DOI: 10.1186/1471-2393-14-82.
227.
AnkathilRZakariaWNARostenbergheHV, et al.Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia. Malays J Pathol2022; 44(2): 235–244.
228.
BurkeALFieldKMorrisonJJ. Natural history of fetal trisomy 18 after prenatal diagnosis. Arch Dis Child Fetal Neonatal Ed2013; 98(2): F152–F154. DOI: 10.1136/archdischild-2011-301589.
229.
DelgadoPICorrea-MedinaMRojasCP. Pancreatic hamartoma in a premature trisomy 18 female. Autops Case Rep2017; 7(4): 26–29. DOI: 10.4322/acr.2017.041.
230.
DenardinDSavarisFEda CunhaAC, et al.Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil. Sao Paulo Med J2015; 133(4): 320–325. DOI: 10.1590/1516-3180.2013.79900715.
231.
FayyaziAKhezrianLKheradmandZ, et al.Evaluation of the young children with neurodevelopmental disability: a prospective study at Hamadan University of medical sciences clinics. Iran J Child Neurol2013; 7(1): 29–34.
232.
Ferreira de SouzaLMGalvãoEBrito MedeirosA, et al.Long survival of a patient with trisomy 18 and Dandy-Walker syndrome. Medicina (Kaunas)2019; 55(7): 352. DOI: 10.3390/medicina55070352.
233.
GroenHBoumanKPieriniA, et al.Stillbirth and neonatal mortality in pregnancies complicated by major congenital anomalies: findings from a large European cohort. Prenat Diagn2017; 37(11): 1100–1111. DOI: 10.1002/pd.5148.
234.
GulYKapaklıHAytekinSE, et al.Evaluation of immunological abnormalities in patients with rare syndromes. Cent Eur J Immunol2022; 47(4): 299–307. DOI: 10.5114/ceji.2022.124080.
235.
GunneELynchSAMcGarveyC, et al.Fatal fetal abnormality Irish live-born survival-an observational study. J Community Genet2021; 12(4): 643–651. DOI: 10.1007/s12687-021-00534-3.
236.
HasanZThakurVKChaubeyD, et al.VACTERL Associated with a rare limb anomaly combined with Edward (trisomy 18) syndrome. J Indian Assoc Pediatr Surg2021; 26(3): 206–207. DOI: 10.4103/jiaps.JIAPS_237_20.
237.
KusanoMESchmidtA. Teaching motor responses to a child with trisomy 18: a preliminary study. Behav Interv2021; 37(3): 791–804. DOI: 10.1002/bin.1862.
238.
McDonnellRMonteithCKennellyM, et al.Epidemiology of chromosomal trisomies in the East of Ireland. J Public Health2017; 39(4): e145–e151. DOI: 10.1093/pubmed/fdw087.
239.
McMahonDLTwomeyMO'ReillyM, et al.Referrals to a perinatal specialist palliative care consult service in Ireland, 2012-2015. Arch Dis Child Fetal Neonatal Ed2018; 103(6): F573–F576. DOI: 10.1136/archdischild-2017-313183.
240.
Moya-SalazarJRojas-ZumaranVVega-VeraR, et al.Clinical, phenotypic, and demographic characteristics of Peruvian children and neonates with autosomal and sex chromosome aneuploidies. Eurasian J Med2023; 55(1): 2–8. DOI: 10.5152/eurasianjmed.2023.22070.
241.
NagaseHIshikawaHToyoshimaK, et al.Fetal outcome of trisomy 18 diagnosed after 22 weeks of gestation: experience of 123 cases at a single perinatal center. Congenital Anom2016; 56(1): 35–40. DOI: 10.1111/cga.12118.
242.
NasiriFMahjoubiFManouchehryF, et al.Cytogenetic findings in mentally retarded Iranian patients. Balkan J Med Genet2012; 15(2): 29–34. DOI: 10.2478/bjmg-2013-0004.
243.
OchiFHigakiTOhtaM, et al.Procalcitonin as a marker of respiratory disorder in neonates. Pediatr Int2015; 57(2): 263–268. DOI: 10.1111/ped.12505.
244.
ParraviciniELorenzJM. Neonatal outcomes of fetuses diagnosed with life-limiting conditions when individualized comfort measures are proposed. J Perinatol2014; 34(6): 483–487. DOI: 10.1038/jp.2014.40.
245.
RussoFMPozziEVerderioM, et al.Parental counseling in trisomy 18: novel insights in prenatal features and postnatal survival. Am J Med Genet2016; 170A(2): 329–336. DOI: 10.1002/ajmg.a.37424.
246.
SchneuerFJBellJCShandAW, et al.Five-year survival of infants with major congenital anomalies: a registry based study. Acta Paediatr2019; 108(11): 2008–2018. DOI: 10.1111/apa.14833.
247.
SergiCKosM. Bilateral Wilms’ tumor in trisomy 18 syndrome: case report and critical review of the literature. Ann Clin Lab Sci2018; 48(3): 369–372.
248.
SpringettALMorrisJK. Antenatal detection of edwards (trisomy 18) and Patau (trisomy 13) syndrome: England and wales 2005-2012. J Med Screen2014; 21(3): 113–119. DOI: 10.1177/0969141314543128.
249.
SpringettAWellesleyDGreenleesR, et al.Congenital anomalies associated with trisomy 18 or trisomy 13: a registry-based study in 16 European countries, 2000–2011. Am J Med Genet2015; 167A(12): 3062–3069. DOI: 10.1002/ajmg.a.37355.
250.
StollCAlembikYDottB, et al.Associated anomalies in cases with anotia and microtia. Eur J Med Genet2016; 59(12): 607–614. DOI: 10.1016/j.ejmg.2016.10.012.
251.
StollCAlembikYRothMP. Co-occurring non-omphalocele and non-gastroschisis anomalies among cases with congenital omphalocele and gastroschisis. Am J Med Genet2021; 185(7): 1954–1971. DOI: 10.1002/ajmg.a.62112.
252.
UwinezaAHitayezuJJamarM, et al.Cytogenetic studies of Rwandan pediatric patients presenting with global developmental delay, intellectual disability and/or multiple congenital anomalies. J Trop Pediatr2016; 62(1): 38–45. DOI: 10.1093/tropej/fmv065.
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