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 2012-04-18-14 Trisomy 21 ©Emmanuel Julien  

Trisomy 21

Emmanuel Julien, MD.

Case report:

A 27-year-old patient, G2P1, with first normal baby, was referred to at 33 weeks for dilated bowel and polyhydramnios.

Nuchal translucency in the first trimester scan was 1.5 mm (CRL: 66 mm).

Second trimester screening revealed the risk of 1/325 with high HCG (more than 2.5 MoM) and low AFP(0.7 MoM)

Two first ultrasounds at 13 and 22 weeks were reported to be normal.

Following findings was revealed at 33 weeks:

  • Polyhydramnios
  • Flat profile with tongue between the teeth
  • Small atrioventricular septal defect
  • Duodenal atresia
  • Femur and humerus shorter below 10th centile
  • Sandal gap
Amniocentesis confirmed diagnosis 47XX + 21

Termination of pregnancy was opted by the parents.

Image 1 and video clip 1: Duodenal atresia 

Image 2 and clip 2: Atrio-ventricular septal defect

Image 3-8:
ydramnios, short femur and humerus, normal mouth, mild hydronephrosis and sandal gap.

Image 9:  Flat profile with tongue between the teeth 

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