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.

T_21_Cerekja_1
T_21_Cerekja_2

Image 3: Color Doppler demonstrating the atrioventricular septal defect.

T_21_Cerekja_3

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

T_21_Cerekja_5
T_21_Cerekja_4

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

Discussion Board

Start a discussion about this article
Add bookmark Bookmarked

Menu