Search :     
Articles » Aneuploidy » Trisomy 18
2011-01-13-15 Trisomy 18 © Cerekja
Trisomy 18 

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.


Case report

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.

Help Support :