Edward Syndrome- A Pair Of Cases
No Thumbnail Available
Date
2024-10
Journal Title
Journal ISSN
Volume Title
Publisher
Indian Society for Health and Advanced Research
Abstract
Edward's syndrome or Trisomy 18 is the second most common autosomal trisomy after Down's syndrome (trisomy 21). Prevalence 0f trisomy 18 in live births is around 1 in 6000-8000, however overall prevalence is more 1:2500 to 1:2600 due to high frequency of fetal losses and termination of pregnancy after antenatal diagnosis. The syndrome is characterised by Dysmorphic facies (prominent occiput. Low set ears, Micrognathia), overriding of ?ngers, rocker bottom foot and multisystemic multiple congenital anomalies. Edward syndrome can be diagnosed antenatally by screening tests like ultrasonography and Non-invasive prenatal testing. Postnatally karyotyping can be sent in suspected Trisomy 18. Following cases were diagnosed postnatally with the help of clinical features and karyotyping. Both the cases discussed below were born with cardiovascular defects and talipes equinovarus and other associated anomalies and both of them succumbed to respiratory distress within 1st week of life. Babies born with Edward have very poor prognosis, 50% of babies born with Edward syndrome die within First week of life and 90-95% do not survive beyond the 1st year of life. These case reports re?ect the pressing need for the through active foetal surveillance antenatally for recognition of defects in early stage as no treatment option is yet available for this complex syndrome.
Description
Keywords
Edwards Syndrome, Trisomy, overriding of ?ngers, omphalocele.
Citation
Awadkhan Manjunath, Randad Kailas, Dudhade Keshav, Singh Vinaya Ajaykumar . Edward Syndrome- A Pair Of Cases. International Journal of Scientific Research. 2024 Oct; 13(10): 17-19