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Title
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Edwards Syndrome (Trisomy 18)
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ImagePath
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System
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chromosomal trisomy
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Overview
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Second‑most common autosomal trisomy resulting in live birth.
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Pathophysiology
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Trisomy of chromosome 18 usually due to maternal nondisjunction.
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Presentation
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Severe ID, rocker‑bottom feet, clenched fists with overlapping fingers, low‑set ears, micrognathia, prominent occiput, VSD, death < 1 yr.
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Diagnosis
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1st tri: ↓ PAPP‑A & β‑hCG; quad screen: ↓ AFP, ↓ hCG, ↓ estriol, ↓/normal inhibin A.
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Management
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Palliative; discuss goals of care early.
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Epidemiology
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1 : 6000; majority female; ↑ maternal age.
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