TheFetus.net

Trisomy 18

Albana Cerekja, MD, PhD*, Flavia Ventriglia, MD**, Vanessa Martucci, MD**, Francesco Cecinato, MD***, Juan Piazze MD, PhD****

Article Published: Jan 13, 2011

*  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.

T18_Albana_1
T18_Albana_2


Image 3,4: Image 3 shows increased interocular distance, hypertelorism. Image 4 shows anterior and posterior horns of lateral ventricles.

T18_Albana_3
T18_Albana_4


Images 5,6: Image 5 shows choroid plexus cysts. Image 6 shows stomach on the left and heart on the right.

T18_Albana_5
T18_Albana_6


Images 7,8: Large ventricular septal defect.

T18_Albana_7
T18_Albana_8


Images 9,10: Image 9 shows enlarged gallbladder. Image 10 shows a mesenteric cyst.

T18_Albana_9
T18_Albana_10


Images 11,12: Images 11 shows dilated inferior vena cava. Image 12 shows clenched hand.

T18_Albana_11a
T18_Albana_12


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).

T18_Albana_13
T18_Albana_18(1)


Images 15,16: Image 15 shows a rocker-bottom foot. Image 16 shows a single umbilical artery.

T18_Albana_14
T18_Albana_15


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.

T18_Albana_16
T18_Albana_17

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