Absent nasal bone

Discussion:

A patient aged 25, gravida 2, with one 2-year-old female child came for an anomaly scan. No marker or screening test available. No nuchal translucency scan. Ultrasound shows various findings of Trisomy 21; the main important findings are an absent nasal bone, increased nuchal fold thickness, and bilateral renal pyelectasis. No cardiac defect, no sandal gap.

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