Trisomy 18 Chronicles: A Case Report Illuminating Edward Syndrome

Abstract

This case report delves into the complexities surrounding Edwards syndrome (Trisomy 18), a chromosomal abnormality stemming from meiotic disjunction. Initially reported in 1960, Edwards syndrome is the second most prevalent autosomal trisomy following Down syndrome, affecting between 1 in 3500 and 1 in 7000 individuals, with a slight male predominance. The majority of cases involve parents under 30 years old. A review of 152 cases demonstrates a myriad of anomalies, including severe intellectual deficits, congenital heart problems and distinct facial features. This report aims to enhance understanding of Edwards syndrome by presenting a comprehensive case study detailing the diagnosis and distinctive clinical features of a newborn with Trisomy 18. This case report helps in understanding the complexity of genetics and clinical manifestations, highlighting the importance of prenatal diagnosis and counseling, multidisciplinary care approaches, parental decision-making, palliative care and the need for further research. The case report underscores the necessity for heightened public awareness and support for affected families. This study contributes to the body of knowledge regarding Trisomy 18, fostering a more compassionate and informed approach to managing this challenging genetic disorder, ultimately aiming to improve the quality of life for those affected by Edwards syndrome.

Keywords

• trisomy 18
• edwards syndrome
• chromosome
• genetic screening
• karyotype