Israel

Case report

Following images and videos show a 16 weeks old fetus from a low risk pregnancy of a 26-year-old woman. Fetal biometry was concordant with the gestational age counted from the last menstrual period.

The fetus showed following findings:

- microphthalmia with persistent hypertrophied primary vitreous (PHPV);
- cleft lip;
- dilated lateral cerebral ventricles and hypoplastic vermis cerebelli;
- coarctation of the aorta;
- enlarged hyperechoic kidneys;
- normal fingers.

The findings were suspected of trisomy 13 - the main clue to the diagnosis were very thick hyaloid arteries (persistent hypertrophied primary vitreous) that makes common part of the trisomy 13 or trisomy 18 (see article: http://sonoworld.com/TheFetus/page.aspx?id=3000) 

Following amniocentesis confirmed the trisomy 13 of the fetus.

Images 1, 2 and videos 1, 2: The images and videos show transverse scans of fetal head with dilated lateral ventricles and hypoplastic vermis cerebelli.

Images 3, 4 and video 3: The images and video shows transverse scans of the fetal heart with dilated right ventricle and atrium and tiny aortic arch at the level of the three-vessel-trachea view - coarctation of the aorta.

Images 5, 6, and videos 4, 5: The images and videos show transverse scans of the fetal orbits with microphthalmia and persistent hypertrophied primary vitreous. 

Images 7, 8, and videos 6, 7, 8: The images and videos show transverse scans of the fetal orbits with microphthalmia and persistent hypertrophied primary vitreous. Cleft lip can be seen in the video 8. Normal fetal hands can be also noted in the video loops. 

Image 9 and video 9: The image and video enlarged hyperechoic kidney of the fetus.

Video 10: The video shows small omphalocele of the fetus.