SN2
SHORT NOTE
5M
Define Edward (Trisomy 18) & Patau (Trisomy 13) Syndromes. Describe its prognosis and diagnosis.
Definition
Edward syndrome (trisomy 18) and Patau syndrome (trisomy 13) are severe autosomal trisomies with multiple malformations and a poor prognosis (most die in infancy).
Edward Syndrome (trisomy 18)
- Severe growth restriction, prominent occiput, micrognathia, low-set ears.
- Clenched hands with overlapping fingers, rocker-bottom feet.
- Congenital heart disease; poor prognosis.
Patau Syndrome (trisomy 13)
- Midline defects — holoprosencephaly, cleft lip/palate, microphthalmia.
- Postaxial polydactyly, scalp defects (cutis aplasia), congenital heart disease.
- Poor prognosis.
Diagnosis
Suspected clinically and on antenatal ultrasound; confirmed by karyotype. Management is largely supportive/palliative given the poor prognosis, with genetic counselling.
Epidemiology & Prognosis
- Both are associated with advanced maternal age and are frequently detected on antenatal ultrasound.
- Most affected infants die in the first year; care is supportive/palliative, with honest counselling.
Clinical Comparison
| Feature | Edward (18) | Patau (13) |
|---|---|---|
| Head/face | Prominent occiput, micrognathia | Microcephaly, cleft lip/palate |
| Hands/feet | Overlapping fingers, rocker-bottom feet | Postaxial polydactyly |
| CNS | — | Holoprosencephaly |
| Prognosis | Poor | Poor |
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