Edward syndrome.pdf and ppt by Dr KHANSA

Edward syndrome:
introduction
risk factors and inheritance
clinical features complications
diagnosis
screening
treatment and management
palliative care
prognosis

1. Edward’s syndrome A Comprehensive overview By Dr. KHANSA

2. Table of contents Introduction Risk factors and inheritance Clinical features Diagnosis screening Treatment and management Palliative care Prognosis

3. Introduction Definition: Edward’s syndrome is a genetic disorder caused by an extra copy of chromosome 18. Prevalence : its prevalence is 1 in 2500 birth.

4. Risk factors and inheritance Increase maternal age Previous pregnancy with Edward’s syndrome Family history IVF Edward’s syndrome is not typically inherited from parents.

5. Clinical features Prominent occiput Closed fingers with index finger overlapping the 3 rd digit and 5 th overlapping the 4 th finger. Narrow hips with limited abduction Rocker bottom feet Microcephaly Micrognathia

6. Clinical features Overlapping fingers Micrognathia

7. Diagnosis Prenatal testing : Via ultrasound , chorionic villous sampling , amniocentesis. Triple screen ,Quad screen test. Postnatal testing : karyotyping.

8. Screening Triple screen : AFP: unchanged Estriol: low hCG : very low Quad screen AFP: unchanged Estriol: low hCG : very low Inhibin A: unchanged

9. Treatment and management Supportive care : treat symptoms to avoid complications. Medical interventions : Heart conditions : cardiac surgery for congenital heart defects , medication for arrythmias. Feeding difficulties : feeding tube. Respiratory problem : respiratory therapy like chest physiotherapy , ventilators. Intellectual disability : get benefit from special education programs. Occupational therapy : daily living skills and activities.

10. Palliative care Pain management : Pain medications. Emotional support : Palliative care team provide emotional support to parents.

11. Prognosis The prognosis to Edward’s syndrome is generally poor , survival is no more than infancy. If infant survive , may face significant health challenges.

12. Thank you By Dr KHANSA