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)

Acharya, Krishna; Leuthner, Steven R.; Zaniletti, Isabella; Niehaus, Jason Z.; Bishop, Clayton; Coghill, Carl; Datta, Ankur; Dereddy, Narendra; DiGeronimo, Robert; Jackson, Laura E.; Ling, Con Yee; Matoba, Nana; Natarajan, Girija; Nayak, Sujir Pritha; Schlegel, Amy; Seale, Jamie; Shah, Anita; Weiner, Julie; Williams, Harriet; Wojcik, Monica H.; Fry, Jessica T.; Sullivan, Kevin M.; Care, Palliative

doi:10.1038/s41372-021-01111-9

Cited by 13 publications

(6 citation statements)

References 14 publications

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“…Although several studies have provided insights to survival rates, interpreting these data in the context of the highly varied treatment pathways that families choose remains complicated. 5,6,34,35 In our cohort, the median survival time of 7 days for infants with T13 and 29 days for infants with T18 are consistent with published survival statistics. 19 However, it is clear from both our data and the recently published literature that a significant minority of infants with T13 or T18 live well beyond the neonatal period, with some children living for many years.…”

Section: Discussionsupporting

confidence: 90%

“…The total birth prevalence for T18 was 3.76 per 10 000 live births and the prevalence among live births was 1.86 per 10 000 live births. The mean maternal age was 33 years (range, 14-46 years), and the mean gravida was 3 (range, [1][2][3][4][5][6][7][8][9][10][11][12][13][14]. Most identified as Caucasian.…”

Section: Pregnancy Characteristicsmentioning

confidence: 99%

“…35 Other studies have highlighted that invasive surgical procedures are offered for children with T13 or T18, with significant variability in patient outcomes and impact on overall survival. 5,6,26,37,39,40 The burden of CHD in infants and children with T13 or T18 is high; most surviving children developed symptoms requiring medical or surgical management. Deciding when surgical intervention is the best option for children remains challenging for families and providers.…”

Section: Original Articlesmentioning

confidence: 99%

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Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18

Cortezzo

Tolusso

Swarr

2022

The Journal of Pediatrics

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Section: Discussionsupporting

confidence: 90%

Section: Pregnancy Characteristicsmentioning

confidence: 99%

Section: Original Articlesmentioning

confidence: 99%

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Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18

Cortezzo

Tolusso

Swarr

2022

The Journal of Pediatrics

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“…However, over the past two decades, medical and surgical intervention for T13 and T18 have been on the rise. A recent report from Children's Hospital Neonatal Database found that 90% of infants born with T13 and T18 received medical and/or surgical interventions [29]. Reporting on the Canadian healthcare system, Nelson et al [30] described surgical interventions in 24% of T13 and T18 patients and, more importantly, described 71 and 39% 1-year survival after surgery in T13 and T18, respectively.…”

Section: Current Management Of Congenital Heart Disease In Childrenmentioning

confidence: 99%

The common trisomy syndromes, their cardiac implications, and ethical considerations in care

Kosiv

Mercurio

Carey

2023

Current Opinion in Pediatrics

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Purpose of review To review the incidence of congenital heart disease in the trisomies, highlight the history of cardiac surgery in trisomy 21 comparing it to the increase in cardiac surgery in trisomies 13 and 18, discuss ethical issues specific to trisomies 13 and 18, and suggest a pathway of shared decision-making in the management of congenital heart disease in trisomy 13 and 18, specifically congenital heart surgery. Recent findings Congenital heart disease is prevalent in the trisomies and the management of these defects, especially surgical intervention, has changed. In the late 20th century, survival after cardiac surgery in trisomy 21 vastly improved, significantly decreasing morbidity and mortality secondary to pulmonary hypertension. Similarly, procedures and surgeries have been performed with increasing frequency in trisomy 13 and 18 patients and concomitantly, survival in this patient population is increasing. Yet across the United States, the willingness to perform cardiac surgery in trisomy 13 and 18 is variable, and there is ethical controversy about the correct action to take. To address this concern, a shared decision-making approach with an informed parent(s) is advised. Summary As the care and management of congenital heart disease changed in trisomy 21, so too it has with trisomy 13 and 18. Physicians and parents should develop goal-directed treatment plans balancing the risk versus benefit and consider cardiac surgical repair if feasible and beneficial.

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“…Similarly, what parents perceived as palliative care may differ based on the timing of diagnosis. For prenatal diagnoses, palliative care usually involves minimal to no interventions to extend life, while for postnatal diagnoses, palliative care could include medical and surgical interventions to optimize quality of life including tube feedings, non-invasive respiratory support, and “palliative” cardiac surgery (e.g., ventricular septal defect closure) ( 88 ). Neonatologists are challenged with providing sensitive prenatal counseling and postnatal care based on shared decision making with families and identified goals of care ( 89 ).…”

Section: Ongoing Challenges Of Prenatal and Neonatal Genetic Testingmentioning

confidence: 99%

Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases

Findley¹,

Parchem²,

Ramdaney³

et al. 2023

Transl Pediatr

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Advances in prenatal/neonatal genetic screening practices and next generation sequencing (NGS) technologies have made the detection of molecular causes of pediatric diseases increasingly more affordable, accessible, and rapid in return of results. In the past, families searching for answers often required diagnostic journeys leading to delays in targeted care and missed diagnoses. Non-invasive prenatal NGS is now used routinely in pregnancy, significantly altering the obstetric approach to early screening and evaluation of fetal anomalies. Similarly, exome sequencing (ES) and genome sequencing (GS) were once only available for research but are now used in patient care, impacting neonatal care and the field of neonatology as a whole. In this review we will summarize the growing body of literature on the role of ES/GS in prenatal/neonatal care, specifically in neonatal intensive care units (NICU), and the molecular diagnostic yield. Furthermore, we will discuss the impact of advances in genetic testing in prenatal/neonatal care and discuss challenges faced by clinicians and families. Clinical application of NGS has come with many challenges in counseling families on interpretation of diagnostic results and incidental findings, as well as re-interpretation of prior genetic test results. How genetic results may influence medical decision-making is highly nuanced and needs further study. The ethics of parental consent and disclosure of genetic conditions with limited therapeutic options continue to be debated in the medical genetics community. While these questions remain unanswered, the benefits of a standardized approach to genetic testing in the NICU will be highlighted by two case vignettes.

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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)

Cited by 13 publications

References 14 publications

Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18

Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18

The common trisomy syndromes, their cardiac implications, and ethical considerations in care

Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases

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