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Articles » Aneuploidy » Trisomy 18
2010-03-18-15 Trisomy 18 © Velasco Sanchez

Trisomy 18

Marcos Antonio Velasco Sanchez, MD.,  Candelario Conda Moreno, MD., Bulmaro Torreblanca Guerrero, MD., Arturo Avila Sanchez, MD., Javier Cabrera Garcia, MD., Arely Valtierra Mendoza, MD.

Hospital General de la S.S.A. Acapulco, Guerrero, Mexico. Departamento de Ultrasonido, Servicio de Ginecologia y Obstetrica, Dpto. de Cirugia Pediatrica.Facultad de Medicina de la Universidad Autonoma de Guerrero, Mexico. Instituto Mexicano de Diagnostico por Imagen, Acapulco, Mexico.

Case report

This is a case of a 28-year-old G3P2 with unremarkable personal and family history. The ultrasound scan at 25 weeks suggested a chromosomal anomaly. We performed an amniocentesis and the results confirmed our suspicion of trisomy 18.
The ultrasound findings at 37 weeks were following:

  • Ventriculomegaly
  • Micrognathia, flat nosal bridge
  • Abnormal position of the thumbs
  • Omphalocele
  • Single umbilical artery
  • Uretero-vesical junction obstruction, hydronephrosis, unilateral renal agenesis
  • Ovarian cyst
  • Ambiguous genitalia
  • Sandal gap
Patient delivered at term and the postnatal findings confirmed our ultrasound examination. Baby is still alive.

Images 1: 37 weeks, axial view of the brain, ventriculomegaly.

Images 2,3: Image 2 shows abnormal position of the thumb. Image 3 shows overlapping fingers.

Images 4-7: Omphalocele, single umbilical artery. Image 7 shows an ovarian cyst indicated by (*).

Images 8,9: Image 8 shows a dilated ureter due to an obstruction at the level of uretero-vesical junction. Image 9 shows hydronephrosis.


Images 10,11: Image 10 shows ambiguous genitalia. Image 11 shows a sandal gap foot.


Image 12: Profile of the neonate, note the flat nasal bridge and micrognathia.

Images 13,14: Hands with abnormal position of the thumb and overlapping fingers.


Images 15,16: Image 15 shows sandal gap foot. Image 16 shows ambiguous genitalia.

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