2011-01-13-15 Trisomy 18 © Cerekja www.TheFetus.net
Albana Cerekja, MD, PhD*, Flavia Ventriglia, MD**, Vanessa Martucci, MD**, Francesco Cecinato, MD***, Juan Piazze MD, PhD****.
* Ultrasound Division, ASL Roma B, Rome, Italy.
** Pediatric Cardiology. Policlinico Umberto I. University “La Sapienza” Rome, Italy.
*** Obstetrics Department. Policlinico Umberto I. University “La Sapienza” Rome, Italy.
**** Ultrasound Division, Ceprano Hospital, Ceprano, Italy.
This is a case of trisomy 18 (47, XY+18) diagnosed at 22 weeks of gestation.
Our ultrasound examination revealed the following findings:
Head: choroid plexus cysts, hypertelorism, exophtalmos, absent nasal bone, slanting forehead, micrognathia, enlarged cisterna magna
- Thorax: dextrocardia, ventricular septal defect, dilated inferior vena cava
- Abdomen: distended gallbladder, cyst in the right abdomen (autopsy showed it was a mesenteric cyst)
- Extremities: short mesomelic bones of upper extremitites, bilateral radial ray hypoplasia with clubbed hands, left clenched hand, rocker-bottom feet
- Cord: single umbilical artery
Parents opted for the pregnancy termination and the autopsy confirmed our ultrasound findings.
Images 1,2: Image 1 shows a profile with absent nasal bone. Image 2 shows fetal face with hypertelorism and exophtalmus.
Image 3,4: Image 3 shows increased interocular distance, hypertelorism. Image 4 shows anterior and posterior horns of lateral ventricles.
Images 5,6: Image 5 shows choroid plexus cysts. Image 6 shows stomach on the left and heart on the right.
Images 7,8: Large ventricular septal defect.
Images 9,10: Image 9 shows enlarged gallbladder. Image 10 shows a mesenteric cyst.
Images 11,12: Images 11 shows dilated inferior vena cava. Image 12 shows clenched hand.
Images 13,14: Image 13 shows a clenched left hand with shortened forearm, radial ray hypoplasia. Image 14 shows a short radius (14,7 mm) and ulna (19.5 mm) and the right hand (arrow).
Images 15,16: Image 15 shows a rocker-bottom foot. Image 16 shows a single umbilical artery.
Images 17,18: Image 16 shows the fetal face with hypertelorism and exophtalmia. Image 17 shows the right arm and hand with a radial ray hypoplasia.