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Trisomy 18

Behnaz Moradi, MD; Mohammad Ali Kazemi, MD

Article Published: Sep 24, 2018
Behnaz Moradi, MD¹; Mohammad Ali Kazemi, MD²
1.Department of Radiology, Women' Yas Hospital, Tehran University of Medical Sciences, Tehran, Iran.
2.Department of Radiology, Amiralam Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Case report
A 27-year-old (G1P0) was referred at 19 weeks gestation for sonographic evaluation due to multiple anomalies in her second trimester anomaly scan. 
Ultrasound examination in our center revealed the following findings:
- Upper pole of one kidney had caliectasis and  there was an ipsilateral ureterocele suggesting a duplex collecting system. 
- Unbalanced atrioventricular septal defect with right dominance 
- A small ascending aorta with no aortic arch in axial, sagittal and color Doppler study in favor of a hypoplastic or interrupted aortic arch. 
- Multiple bilateral large choroid plexus cysts
- Strawberry-shaped skull
- Bilateral clenched hands

Based on these findings trisomy 18 was suspected and karyotype study confirmed our suspicion. 


Video 1 and 2: Upper pole of one kidney had pyelectasis and there was an ipsilateral ureterocele in bladder (duplex collecting system). 

Video 3-7: Unbalanced atrioventricular septal defect with right dominance. A small ascending aorta with no aortic arch in axial, sagittal and color Doppler study in favor of hypoplastic or interrupted aortic arch.

Image 1 and 2, video 8: multiple bilateral large choroid plexus cysts and strawberry-shaped skull.

1 3
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Video 9: Bilateral clenched hands.


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