2010-1-25-14 Trisomy 18 © Dosedla www.thefetus.net/
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.
