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Articles » Aneuploidy » Trisomy 18

2010-1-25-14 Trisomy 18 © Dosedla

Trisomy 18

Erik Dosedla, MD.*, Pavel Calda, MD., PhD.**

*Department of Obstetrics and Gynecology,Slovak Medical University, 1st Private Hospital Košice-Šaca Inc., Košice-Šaca, Slovak Republic
**Charles University, Prague, 1st Faculty of Medicine and General Teaching Hospital, Department of Obstetrics and Gynecology, Prague, Czech Republic.

Case report

A 29-year-old G1P0 was referred to our department  for an ultrasound scan at 24 weeks of gestation. She had non-contributive personal or family history. The first trimester screening was not done. Her triple test came out positive with a 1:85 risk for a trisomy 18. There was an intrauterine growth restriction (3 weeks delay of fetal growth).The ultrasound examination revealed the following findings:

    • Hypoplastic nasal bone
    • Micrognathia
    • Choroid plexus cyst
    • Bilateral radial aplasia
    • Clenched fists
    • Club-foot
    • Intrauterine growth restriction

We suspected a chromosomal abnormality and performed an amniocentesis. Karyotype results showed Trisomy 18. Patient opted for a pregnancy termination. 

Images 1,2: Image 1 shows a hypoplastic nasal bone, micrognathia. Image 2 shows a sagittal view of the fetal spine.


Images 3,4: Choroid plexus cyst. 


Images 5,6: Sagittal view of the fetus, note the increased amount of the amniotic fluid.


Images 7,8: Atrioventricular septal defect.


Images 9,10: Image 9 shows upper extremities, bilateral radial aplasia, clenched fists. Image 10 shows a club-foot.


Images 11,12: Image 11 shows a club-foot. Image 12 shows a 3D image of the clenched fist, and club-foot.


Images 13: Doppler of the ductus venosus.


Video 1,2: Video 1 shows a 3D image of the fetus. Video 2 shows a 2D image of the fetal profile.


Images 15,16: Images of the fetus, note the profile with micrognathia and extremities. Upper extremities with radial aplasia and clenched fists, bilateral club-feet. 






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