EDWARD SYNDROME- A PAIR OF CASES
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 reect 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.
Authors
- Kailas Randad
- Vinaya Ajaykumar Singh (ORCID: https://orcid.org/0000-0002-6325-2411)
- Manjunath Awadkhan
- Keshav Dudhade
Publication Details
- Journal
- INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH
- Published
- 2024-10-01
- DOI
- https://doi.org/10.36106/ijsr/1700875
- Primary Topic
- Law, AI, and Intellectual Property
- Type
- article
- Field-Weighted Citation Impact
- 0.00