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Trisomy 18 and the possibility of choice: The importance of Perinatal Hospice's support.
Eur J Pediatr
January 2025
Unit of Obstetrics and Gynecology, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, Rome, Italy.
Trisomy 18 is a severe aneuploidy associated with multiple malformations and a poor prognosis. The diagnosis is typically made prenatally, leading to a high rate of pregnancy terminations. The aim of this study is to demonstrate that even though the prognosis is heterogeneous, prolonged survival is possible and these children are an enrichment for their families after all.
View Article and Find Full Text PDFFamily-Centered Antenatal Care With a Life-Limiting Fetal Condition: A Developmental Theory-Guided Approach.
J Midwifery Womens Health
December 2024
Trudy Busch Valentine School of Nursing, Saint Louis University, Saint Louis, Missouri.
Trisomy 18 (T18) is the second-most common autosomal trisomy and includes multiple anomalies, growth restriction, and a severely shortened life span, often lasting only hours or days. Côté-Arsenault and Denney-Koelsch extended Reva Rubin's work, describing the psychosocial stages of pregnancy by describing the stages and developmental tasks for a pregnancy altered by a life-limiting fetal condition such as T18. When a diagnosis of T18 is made prenatally, the pregnancy changes dramatically, although it remains a psychosocial developmental process.
View Article and Find Full Text PDFParent Narratives Provide Perspectives on the Experience of Care in Trisomy 18.
Am J Med Genet C Semin Med Genet
November 2024
Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA.
Trisomy 18 syndrome, also known as Edwards syndrome, is the second most common autosomal chromosome syndrome after Down syndrome. Trisomy 18 is a serious medical disorder due to the increased occurrence of structural defects, the high neonatal and infant mortality, and the disabilities observed in older children. Interventions, including cardiac surgery, remain controversial, and the traditional approach is to pursue pure comfort care.
View Article and Find Full Text PDFHybrid treat-and-repair strategy for large patent ductus arteriosus: a proof-of-concept case report.
Eur Heart J Case Rep
August 2024
Department of Pediatrics, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu City, Mie Prefecture 514-8507, Japan.
Background: In cases of atrial septal defect with pulmonary arterial hypertension (PAH), a treat-and-repair strategy that adopts pulmonary vasodilator therapy and subsequent defect closure is postulated to be effective. However, this strategy has not been applied to the large patent ductus arteriosus (PDA) with PAH.
Case Summary: A 10-year-old girl with trisomy 21 was referred to our hospital for the treatment of a large PDA with PAH.
Impact of definitive surgery for esophageal atresia on long-term outcomes in patients with trisomy 18.
Am J Med Genet A
November 2024
Department of Neonatology, Hyogo Prefectural Kobe Children's Hospital Perinatal Center, Kobe, Hyogo, Japan.
This study investigates the long-term outcomes of palliative and definitive surgeries for esophageal atresia (EA) in patients with trisomy 18 syndrome. A retrospective study included 25 cases undergoing EA surgery at our center between 2008 and 2022. The Palliative group (n = 16) comprised 13 cases with esophageal banding and 3 with tracheoesophageal fistula (TEF) division.
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