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Articles » Aneuploidy » Trisomy 13
2009-08-25-12 Trisomy 13 © Galluzzo

Trisomy 13

Roberto Noya Galluzzo, MD.



Case report

Trisomy 13 usually presents with several conspicuous anomalies that can be seen during prenatal ultrasound. The following case represents a less striking variant of the syndrome which was confirmed after delivery. The newborn died two weeks after delivery.

The most noticeable prenatal findings were just abnormal fetal profile and polycystic kidneys of the fetus.

Images 1, 2: Transverse scans of the fetal skull - no significant anomaly can be seen.


Image 3: Abnormal fetal profile (the length and ossification of the nasal bone seems to be normal).


Images 4, 5, 6: Enlarged fetal kidneys (small renal cystic lesions were present).


Images 7, 8, 9: The image 7 shows normal fetal gallbladder and insertion of umbilical cord (left part of the image) and normal placenta. The image 8 shows normal umbilical artery Doppler waveform. The image 9 shows normal uterine artery Doppler.


Images 10, 11: Normal fetal long bones. Biometric parameters were concordant with the gestational age.


Images 12, 13, 14, 15: The images of the heart did not reveal any conspicuous anomaly.




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