Trisomy 18 (Edward Syndrome)
- Second most common autosomal trisomy
- Risk of Recurrence: Less than 1%, higher with increased maternal age.
Clinical Presentation
- Apneic episodes - Complication ~~~ Death
- Poor feeding
- Marked failure to thrive
- Intrauterine growth retardation (IUGR) ~~~ Failure to thrive
- Microcephaly
- High forehead
- Intellectual disability
- Rocker bottom feet
- Clubfoot/clenched fist
- Overlapping fingers
- Hypoplastic nails
- Ventricular septal defect (VSD) is most common (90% have structural heart defect), ASD, PDA as well
