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2011-05-12-15 Trisomy 21 © Cerekja

Trisomy 21

Albana Cerekja, MD, PhD*, Pietro Cignini, MD**

*   Ultrasound Division, ASL Roma B, Rome, Italy.
**  Department Department of Prenatal Diagnosis, Fetal-Maternal Medical Centre "ARTEMISIA" Rome, Italy. 

Case report

This is the case of a 36-year-old patient with a history of severe endometriosis.
This was the first pregnancy obtained after IVF/ICSI (Intra Cytoplasmic sperm injection).
The ultrasound examination performed at 12 weeks of gestation showed nuchal translucency, NT= 1.9 mm for a crown rump length of 55 mm. Nasal bone was absent and there was a reverse flow in the ductus venosus. We also detected an atrioventricular septal defect.
The patient underwent a chorionic villus sampling with a result of trisomy 21.
The couple opted for the pregnancy termination.

Images 1,2: Image 1 shows nuchal translucency, NT = 1.9 mm. Image 2 shows the transverse view of the heart.


Image 3: Color Doppler demonstrating the atrioventricular septal defect.

Images 4,5: Reverse flow in the ductus venosus.                                                                            


Video: Video showing the color Doppler of the heart with atriventricular septal defect.


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