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1.
Am J Med Genet A ; 185(3): 966-977, 2021 03.
Article in English | MEDLINE | ID: mdl-33381915

ABSTRACT

Children with trisomy 13 and 18 (previously deemed "incompatible with life") are living longer, warranting a comprehensive overview of their unique comorbidities and complex care needs. This Review Article provides a summation of the recent literature, informed by the study team's Interdisciplinary Trisomy Translational Program consisting of representatives from: cardiology, cardiothoracic surgery, neonatology, otolaryngology, intensive care, neurology, social work, chaplaincy, nursing, and palliative care. Medical interventions are discussed in the context of decisional-paradigms and whole-family considerations. The communication format, educational endeavors, and lessons learned from the study team's interdisciplinary care processes are shared with recognition of the potential for replication and implementation in other care settings.


Subject(s)
Chromosomes, Human, Pair 18 , Palliative Care/organization & administration , Patient Care Team , Trisomy 13 Syndrome , Trisomy , Child Advocacy , Clinical Decision-Making , Developmental Disabilities/genetics , Developmental Disabilities/therapy , Enteral Nutrition , Female , Fetal Monitoring , Heart Defects, Congenital/genetics , Heart Defects, Congenital/therapy , Humans , Infant Food , Infant Nutrition Disorders/prevention & control , Infant, Newborn , Intensive Care, Neonatal/methods , Interdisciplinary Communication , Life Expectancy , Male , Muscle Hypotonia/genetics , Muscle Hypotonia/therapy , Neoplasms/complications , Prenatal Diagnosis , Professional-Family Relations , Trisomy 13 Syndrome/diagnosis , Trisomy 13 Syndrome/embryology , Trisomy 13 Syndrome/therapy
2.
Pediatrics ; 132(5): e1428-34, 2013 Nov.
Article in English | MEDLINE | ID: mdl-24144715

ABSTRACT

Human cytomegalovirus (CMV) infection may be acquired in very low birth weight and extremely low birth weight (ELBW) infants from breast milk. The clinical relevance of such infections is uncertain. There is no consensus on whether screening breast milk for CMV, freezing/pasteurizing milk before feeding, or performing virological monitoring on at-risk infants is warranted. We describe an ELBW infant who acquired CMV postnatally from breast milk and developed CMV sepsis syndrome and clinical evidence of necrotizing enterocolitis (NEC) at ≈ 5 weeks of age. The availability of serial dried blood spots from day of life (DOL) 4 to 21, coincidentally obtained for a metabolic study, provided the novel opportunity to retrospectively test for and quantify the magnitude of CMV DNAemia. DNAemia was present for several weeks before the onset of severe CMV disease, first being noted on DOL 18 and increasing in magnitude daily to 4.8 log10 genomes/mL on DOL 21, approximately 8 days before the onset of abdominal distension and 15 days before the onset of CMV sepsis syndrome and NEC. After surgical resection, supportive care, and ganciclovir therapy, the infant recovered. This case underscores the importance of including CMV infection in the differential diagnosis of sepsis and NEC in premature infants. This case also suggests the value of prospective virological monitoring in at-risk low birth weight and ELBW infants. Future studies should examine the potential utility of preemptive monitoring for, and possibly treatment of, CMV DNAemia in premature infants, which may herald the onset of serious disease.


Subject(s)
Asymptomatic Diseases , Cytomegalovirus , DNA, Viral , Enterocolitis, Necrotizing/diagnosis , Infant, Premature , Cytomegalovirus/isolation & purification , Enterocolitis, Necrotizing/virology , Humans , Infant, Newborn , Male
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