Cardiovascular surgery for congenital heart disease associated with trisomy 18

Yamagishi, Hiroyuki

doi:10.1007/s11748-009-0501-6

Cited by 16 publications

(14 citation statements)

References 7 publications

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“…In a recent investigation Yamagishi et al, [78] suggests that surgery should be considered in trisomy 18 infants because it may improve life expectancy, facilitate discharge from the hospital, and improve quality of life of both patient and family. The author qualifies the recommendation in stating that the risk of surgery in patients with trisomy 18 is higher than in patients without trisomy 18 or in patients with trisomy 21, and acknowledges that it is still unknown whether the cardiac surgery improves the long-term prognosis of trisomy 18 children.…”

Section: Health Supervision and Managementmentioning

confidence: 99%

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The trisomy 18 syndrome

Cereda

Carey

2012

Orphanet J Rare Dis

298

328

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The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%.Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition.Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team.The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations.

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Section: Health Supervision and Managementmentioning

confidence: 99%

“…Therefore, individual evaluation considering the overall health state of the infant is needed to determine optimal treatment [78]. …”

Section: Health Supervision and Managementmentioning

confidence: 99%

The trisomy 18 syndrome

Cereda

Carey

2012

Orphanet J Rare Dis

298

328

View full text Add to dashboard Cite

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“…Concerns raised included improper allocation of time and resources surgery, harm to infant during and after surgery, as well as ethical considerations including the quality of life after surgery, lack of data supporting improved prognosis, and the potential of providing false hope or unrealistic expectations for the families (Boss et al, ; Graham, ; Janvier, Farlow, & Wilfond, ; Janvier & Watkins, ). Despite these raised concerns, several studies in the last decade (Bruns & Martinez, ; Kaneko et al, ; Kobayashi, Kaneko, Yamamoto, Yoda, & Tsuchiya, ; Maeda et al, ; Yamagishi, ) have described outcomes following cardiac surgery on infants with T‐18, most frequently on VSDs, ASDs, and PDAs. Two studies (Graham, Bradley, Shirali, Hills, & Atz, ; Yamagishi, ) published survival rates of infants with T‐18 after undergoing cardiac surgery, reporting 45% 2‐year survival and 86% hospital survival.…”

Section: Introductionmentioning

confidence: 99%

“…Despite these raised concerns, several studies in the last decade (Bruns & Martinez, ; Kaneko et al, ; Kobayashi, Kaneko, Yamamoto, Yoda, & Tsuchiya, ; Maeda et al, ; Yamagishi, ) have described outcomes following cardiac surgery on infants with T‐18, most frequently on VSDs, ASDs, and PDAs. Two studies (Graham, Bradley, Shirali, Hills, & Atz, ; Yamagishi, ) published survival rates of infants with T‐18 after undergoing cardiac surgery, reporting 45% 2‐year survival and 86% hospital survival. One study (Costello et al, ) compared the outcomes of those infants with T‐18 who underwent cardiac surgery versus those who had palliative care and concluded that cardiac surgery should be considered for all infants with T‐18 who have moderately complex heart defects.…”

Section: Introductionmentioning

confidence: 99%

“…Despite these raised concerns, several studies in the last decade (Bruns & Martinez, 2015;Kaneko et al, 2008;Kobayashi, Kaneko, Yamamoto, Yoda, & Tsuchiya, 2010;Maeda et al, 2011;Yamagishi, 2010) have described outcomes following cardiac surgery on infants with T-18, most frequently on VSDs, ASDs, and PDAs. Two studies (Graham, Bradley, Shirali, Hills, & Atz, 2004;Yamagishi, 2010) published survival rates of infants with T-18 after undergoing cardiac surgery, reporting 45% 2-year survival and 86% hospital survival.…”

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confidence: 99%

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Attitudes of clinicians toward cardiac surgery and trisomy 18

Kaulfus

Gardiner²,

Hashmi

et al. 2019

Journal of Genetic Counseling

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Trisomy 18 is an autosomal trisomy condition characterized by minor to major birth defects, severe disabilities, and high rates of pre‐ and postnatal mortality. Interventions for these infants have traditionally been withheld with focus instead on palliative support. The issues and attitudes surrounding corrective surgery of congenital heart defects, which is a birth defect that occurs in approximately 90% of infants with trisomy 18, is of our study's interest as recent literature has indicated that cardiac surgery is being performed and may lead to improved survival compared to palliative care. Thus, our study aimed to describe clinician attitudes toward cardiac surgery and trisomy 18. We surveyed 378 clinicians from multiple specialties, including genetic counselors, involved in the pre‐ and postnatal care of infants with trisomy 18. Descriptive statistics were performed to describe all clinicians' responses, and a secondary analysis with stratifications by clinician type was also performed. Forty‐eight percent (n = 378) of clinicians felt it was appropriate to discuss the option of cardiac surgery. Ethical concerns and insufficient outcome data were the most agreed upon reasons for not offering cardiac surgery. Trisomy 18 not being uniformly lethal and expressed parental wishes were the most agreed upon justifications for offering surgery. Clinicians felt the discussion of the option of cardiac surgery is appropriate, however are hesitant due to ethical concerns and insufficient outcome data. Results from this study aim to promote discussion and collaboration among clinicians to improve consistency in patient care.

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An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18

Bruns

Martinez

2015

American J of Med Genetics Pt A

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Trisomy 18 (Edwards syndrome) is the second most common autosomal trisomy after trisomy 21. Medical issues commonly include cardiac defects, such as ventricular septal defect (VSD) and atrial septal defect (ASD). If untreated, these conditions can contribute to the associated infant mortality. The objective of the study was review parent-reported information on 84 cases with full trisomy 18 focusing on prenatal and postnatal assessment and confirmation of cardiac defects and on subsequent treatment with cardiac surgery and post-surgery outcomes. At birth, 65 parent responses indicated the presence of VSD (77.4%), 38 ASD (45.2%), and 50 patent ductus arteriosus (PDA) (59.5%). The presence of multiple cardiac defects was also analyzed including 25 cases with VSD, ASD, and PDA at birth. The total reduced to 18 at survey completion. Twenty-four cases had one or more cardiac defects repaired for a total of 34 corrective surgeries. Age at surgery varied from 2 weeks to 41 months of age with most performed under 1 year of age. Twenty-one cases were still living at the time of survey completion (87.5%). From these date we provide recommendations and implications.

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Cardiovascular surgery for congenital heart disease associated with trisomy 18

Cited by 16 publications

References 7 publications

The trisomy 18 syndrome

The trisomy 18 syndrome

Attitudes of clinicians toward cardiac surgery and trisomy 18

An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18

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