Erring on the Side of Life: Children with Rare Trisomy Conditions, Medical Interventions and Quality of Life

Bruns, Deborah A.

doi:10.4172/2327-5790.1000103

Cited by 12 publications

(13 citation statements)

References 45 publications

(68 reference statements)

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“…Despite concern that medical providers are unwilling to provide neonatal intensive care to infants with T13 or T18, (4, 34) we found that infants with T13 or T18 were offered a wide variety of medical interventions. Infants frequently received ventilation and surfactant, and those with neonatal surgical anomalies were more likely to receive medical interventions.…”

Section: Discussionmentioning

confidence: 81%

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Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18

et al. 2017

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Objective to describe neonatal intensive care unit (NICU) medical interventions and NICU mortality by birth weight and major anomaly types for infants with trisomy 13 (T13) or 18 (T18). Study Design retrospective cohort analysis of infants with T13 or T18 from 2005–12 in the Pediatrix Medical Group. We classified infants into 3 groups by associated anomaly type: neonatal surgical, non-neonatal surgical, and minor. Outcomes were NICU medical interventions and mortality. Results 841 infants were included from 186 NICUs. NICU mortality varied widely by anomaly type and birth weight, from 70% of infants <1500g with neonatal surgical anomalies to 31% of infants ≥2500g with minor anomalies. Infants ≥1500g without a neonatal surgical anomaly comprised 66% of infants admitted to the NICU; they had the lowest rates of NICU medical interventions and NICU mortality. Conclusions Risk stratification by anomaly type and birth weight may help provide more accurate family counseling for infants with T13 and T18.

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Section: Discussionmentioning

confidence: 81%

“…(4, 34) We found that the majority of infants with T13 or T18 admitted to a NICU in fact do not require decisions pertaining to surgical management during the neonatal period. We do not know how many of these infants were considered for medical and surgical interventions after the neonatal period.…”

Section: Discussionmentioning

confidence: 98%

Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18

et al. 2017

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“…This, again, points to decision-making based on diagnosis rather than individual needs. Bruns [2013] posits than an infant or child's response to treatment should factor more into the provision of care than the largely negative view found in the existing literature. In addition, since this sample may have been unique, there is a need for additional investigations to further delineate the constellation of present and absent medical issues contributing to longevity.…”

Section: Discussionmentioning

confidence: 99%

“…Recommendations and follow through for each affected infant and child must be decided on an individual basis with data from multiple and up-to-date sources [Bruns, 2013;Janvier and Watkins, 2013]. This, in turn, provides parents with balanced information for decision-making on their child's behalf in place of dire predications and withholding or refusing medical care [Thiele et al, 2013].…”

Section: Discussionmentioning

confidence: 99%

Nine children over the age of one year with full trisomy 13: A case series describing medical conditions

Bruns

Campbell

2014

American J of Med Genetics Pt A

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Trisomy 13 (Patau syndrome), identified by Patau and colleagues [1960; Lancet 1: 790-793] is the third most common autosomal condition. Population studies indicate less than one in 10 children reaches their first birthday. In the face of mixed findings and recommendations for treatment, additional research is needed to further determine what contributes to longevity and implications for treatment for presenting medical conditions. The purpose of the present study is to report on presenting medical conditions and the presence or absence of the specific conditions (age at survey completion). Data on nine survivors (seven female, two male) with trisomy 13 indicated mean gestational age of approximately 36 weeks, birth weight ranging from 1100 to 3290 g and mean length of 45.3 cm. Length of hospital stay after birth varied. The majority of infants presented with well-known physical characteristics. Medical conditions and their treatment varied at birth and at survey completion. Notably, several infants' cardiac anomalies resolved without surgical intervention. Surgeries were provided for a range of conditions including gastrostomy tube placement to address feeding issues and removal of intestinal blockage. There were no reports of holoprosencephaly. Implications and recommendations are provided.

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“…Parent requests should be honored within the parameters discussed above with an emphasis on understanding is that parents will advocate for their infant. It is beyond the scope of this article to discuss ethical and moral implications of caring for this group of infants [19,20] but providing a balanced view of the benefits and associated risks of treatment must be part of parental decision-making. Simon's mother summed up her thoughts about medical decisions in this way, "We would have to live with our decisions for the rest of our lives.…”

Section: Discussionmentioning

confidence: 99%

Caring for an infant with trisomy 18: A case study and guidelines

Bruns

2013

Clinical Nursing Studies

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Much of the literature describes the prognosis for infants with full trisomy 18 as bleak. The case study offered here provides an overview of an infant with this diagnosis who lived for 88.5 days in a Level III neonatal intensive care unit. Care decisions (medical and basic care) and their outcomes are described along with implications for care for infants with a diagnosis often characterized as incompatible with life. The need for information about treatment options and collaboration among an infant's medical team is emphasized.

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Erring on the Side of Life: Children with Rare Trisomy Conditions, Medical Interventions and Quality of Life

Cited by 12 publications

References 45 publications

Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18

Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18

Nine children over the age of one year with full trisomy 13: A case series describing medical conditions

Caring for an infant with trisomy 18: A case study and guidelines

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