Birth history, physical characteristics, and medical conditions in long‐term survivors with full trisomy 13

Bruns, Deborah A.

doi:10.1002/ajmg.a.34283

Cited by 29 publications

(26 citation statements)

References 35 publications

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“…The authors state "more attention should be focused on the parents' information level and on their involvement in the decision-making process" (p. 568). This perspective, along with data indicating the success of medical interventions for this population [3,19,21,32,44,45] deserve greater study and consideration. In addition, changing thoughts on palliative care must be considered on behalf of this population [46].…”

Section: Resultsmentioning

confidence: 99%

“…This is in the face of multiple reports such as those from Japan of children living past the age of one year with positive surgical outcomes [17][18][19]. In addition, at the present time, there is very little literature on developmental outcomes [20,21]. This further impacts and reinforces the prevailing view that focuses on a limited quality of life and arguments against aggressive care [11][12][13]15].…”

Section: Current Perspectivesmentioning

confidence: 91%

“…In this author's experience, infants with t18 and t13 can and do flourish after cardiac repair and similar types of aggressive medical intervention [21,32]. Along with this data, there is a concomitant need to examine the needs of individual children rather than overreliance on statistical information for decision making.…”

Section: Offering a Positive Viewpoint And Associated Recommendationsmentioning

confidence: 98%

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

Bruns¹

2013

J Genet Disor Genet

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Section: Resultsmentioning

confidence: 99%

Section: Current Perspectivesmentioning

confidence: 91%

Section: Offering a Positive Viewpoint And Associated Recommendationsmentioning

confidence: 98%

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

Bruns¹

2013

J Genet Disor Genet

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“…Less than 10% of children reach their first birthday, and the most common cause of death is central apnea. 1) Considering the short life expectancy, cardiac surgery for these patients is often not justified, especially where complex cardiac anomalies exist. Only very few patients with trisomy 13 undergo cardiac surgery.…”

Section: Discussionmentioning

confidence: 99%

Norwood Procedure Performed on a Patient With Trisomy 13

et al. 2016

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SummaryTrisomy 13 is associated with a variety of congenital anomalies, some of which are life-threatening and related to poor prognosis. Therefore, cardiac surgery is rarely offered to these patients, especially to those with complex cardiac anomalies. We report the case of a neonate weighing 2324 g who was born with severe congenital heart defects. Transthoracic echocardiography revealed the diagnoses of asplenia, single ventricle, aortic stenosis, coarctation of the aorta, hypoplastic aortic arch, and total anomalous pulmonary venous return. She was hemodynamically unstable. Palliative Norwood procedure with right ventricle-pulmonary artery conduit (RV-PA conduit) was performed at the age of 1 day to save her life. On postoperative day 7, chromosome analysis revealed trisomy 13. Echocardiography revealed good heart function; stable hemodynamic status was achieved with minimal amounts of inotropic agents. However, she developed anuria, which did not improve despite situational possible interventions, including peritoneal dialysis and continuous hemodiafiltration. On postoperative day 37, she succumbed to sudden cardiorespiratory failure. Nevertheless, this case indicates that a neonate with trisomy 13 can have a better chance at survival with cardiac surgery such as the Norwood procedure with an RV-PA conduit. (Int Heart J 2016; 57: 121-122) Key words: Chromosome, Anomaly T he major physical characteristics associated with trisomy 13 are cleft lip and palate, microphthalmia, microcephaly, and polydactyly. Common medical conditions are congenital heart defects, respiratory difficulty, feeding difficulty, and kidney difficulty. The main cause of death is central apnea followed by heart failure. With such anomalies and causes, patients with trisomy 13 have poor prognosis; in fact, less than 10% survive beyond the first year.1) Consequently, surgery (for congenital heart disease) is rarely performed on these infants; indeed, only a few reports exist on cardiac surgery performed on patients with trisomy 13, especially surgeries with complex cardiac lesions. We report a rare case of a patient who, despite being diagnosed with trisomy 13, underwent the Norwood procedure with a right ventricle-pulmonary artery conduit (RV-PA conduit). Case ReportAt 37 weeks and 5 days of gestation, a girl was delivered by Caesarean section. She had been prenatally diagnosed with, as per fetal echocardiograms, a ventricular septal defect and coarctation of the aorta. Upon delivery, her heart rate dropped to 80 beats per minute after amniorrhexis. The Apgar score was 4 at 1 minute and 6 at 5 minute. Her weight was 2324 g, and length 46 cm. She had polydactyly and skin defects in the occipital region. Cardiac examination revealed a loud single second heart sound with a systolic murmur. Soon after birth, her blood pressure decreased and she became hemodynamically unstable. Dopamine and olprinone were administered intravenously and she was immediately intubated and placed on mechanical ventilation. On room air, an arterial blood gas ass...

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“…The authors note the average length of survival of their sample was 12.8 months. Recently, Bruns [2011] reported on 30 long-term survivors (mean ¼ 48.4 months). The group exhibited the characteristic physical attributes and medical conditions such as VSD and feeding difficulties.…”

Section: Introductionmentioning

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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Birth history, physical characteristics, and medical conditions in long‐term survivors with full trisomy 13

Cited by 29 publications

References 35 publications

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

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

Norwood Procedure Performed on a Patient With Trisomy 13

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

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