title: An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18.
abstract: Trisomy 18 (Edwards syndrome) is the second most common autosomal trisomy after trisomy 21. Medical issues commonly include cardiac defects, such as ventricular septal defect (VSD) and atrial septal defect (ASD). If untreated, these conditions can contribute to the associated infant mortality. The objective of the study was review parent-reported information on 84 cases with full trisomy 18 focusing on prenatal and postnatal assessment and confirmation of cardiac defects and on subsequent treatment with cardiac surgery and post-surgery outcomes. At birth, 65 parent responses indicated the presence of VSD (77.4%), 38 ASD (45.2%), and 50 patent ductus arteriosus (PDA) (59.5%). The presence of multiple cardiac defects was also analyzed including 25 cases with VSD, ASD, and PDA at birth. The total reduced to 18 at survey completion. Twenty-four cases had one or more cardiac defects repaired for a total of 34 corrective surgeries. Age at surgery varied from 2 weeks to 41 months of age with most performed under 1 year of age. Twenty-one cases were still living at the time of survey completion (87.5%). From these date we provide recommendations and implications.
authors.affiliation: Department of Counseling, Quantitative Methods, and Special Education, Southern Illinois University Carbondale, Carbondale, Illinois.
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Bruns
authors.affiliation: Department of Counseling, Quantitative Methods, and Special Education, Southern Illinois University Carbondale, Carbondale, Illinois.
authors.forename: Alyssa
authors.initials: A
authors.lastname: Martinez
mesh_terms: D000293:Adolescent; D000328:Adult; D006348:Cardiac Surgical Procedures; D002648:Child; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D004374:Ductus Arteriosus, Patent / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D006801:Humans; D007223:Infant; D008297:Male; D011379:Prognosis; D014314:Trisomy / Q000235:genetics* / Q000473:pathology; D000073842:Trisomy 18 Syndrome; D055815:Young Adult
keywords: cardiac conditions; cardiac surgery; prenatal diagnosis; procedures; surgical interventions; trisomy 18