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2012-08-05-10 Trisomy 21 ©Francesco Contarin

Trisomy 21, Tetralogy of Fallot

Francesco Contarin, MD.
Clinica SANATRIX. Caracas Venezuela

Case report:

This is a 22-year-old patient , G2P1, with unremarkable history. First trimester screening test was normal

Ultrasound findings at 34 weeks were: Blake´s pouch cyst,  short humerus and short femur, Tetralogy of Fallot, intrauterine growth restriction (IUGR).
Genetic study after birth was T21.

Figure 1, 2: 1:  At 33 weeks, humerus Length < 5th percentile and femur length < 3th percentile 

Figure 3: Blake pouch 's cyst in the fossa posterior

Figure 4, 5: Three-vessel view 

Figure 6-8: 4-chamber view with ventricular septal defect and the aorta overriding on inter-ventricular septum ,
(1) showing interventricular septum and membranous ventricular septal defect

Figure 9:
Color Doppler: the outflow of aorta (1) and the right-to-left shunt through the ovale foramen

Figure 10, 11: 4-chamber view with color Doppler assestment: (1) interatrial shunt; (2) interventricular shunt

Figure 12: 4-chamber view: (1) the left-to- right shunting flow (2) and the flow through atrio-ventricular valve

Video 1, 2: Showing the 4-chamber view with ventricle septal defect and the aorta overriding on inter-ventricular septum

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