Search :     
Articles » Aneuploidy » Trisomy 18
2010-09-25-16 Multiple fetal anomalies, probably trisomy 18 © Grochal www.TheFetus.net

Multiple fetal anomalies, probably trisomy 18 

Frantisek Grochal, MD.

Femicare, s.r.o., Center of prenatal ultrasonographic diagnostics, Martin, Slovak republic. UVN SNP Ruzomberok, Gynecological and obstetrical department. Catholic University in Ruzomberok, Faculty of Health Care, Ruzomberok, Slovak Republic.

 

Case report

 
A 35-year-old woman (G2P0) from a nonconsanguineous couple, first time visited our center at 14+4 weeks of her pregnancy. Our ultrasonographic examination revealed several fetal anomalies, including:
 
  • strawberry-shaped skull;
  • choroid plexus cysts;
  • bilateral clefts of upper lip and palate;
  • absent nasal bone;
  • preauricular tags;
  • dilated jugular lymphatic sacs;
  • hypoplastic left heart syndrome with dilated right ventricle and atrioventricular septal defect;
  • bradycardia;
  • horseshoe kidney;
  • single umbilical artery and omphalomesenteric cyst of the umbilical cord;
  • clenched fists with overlapping fingers.

Our presumed diagnosis was trisomy 18 and due to unfavorable prognosis the parents opted for the termination of the pregnancy. Unfortunately the clinic where the patient underwent the termination did not consider important enough to examine fetal karyotype, and so the exact diagnosis is not finalized.

Images 1, 2, 3: 14+4 weeks of pregnancy; 3D images of the fetal face with bilateral clefts of the upper lip and palate.

 



Images 4, 5: 14+4 weeks of pregnancy; 3D images of the fetal ear with preauricular tag (blue arrow on the image 5).

 

Image 6: 14+4 weeks of pregnancy; 3D image of fetal clenched fist with overlapping fingers.



Images 7, 8: 14+4 weeks of pregnancy; the image 7 shows sagittal scan of the fetal head with absent nasal bone (just rudimentary nasal bone can be seen); the image 8 shows transverse scan at the level of fetal neck with dilated jugular lymphatic sacs.

 

Images 9, 10: 14+4 weeks of pregnancy; the images show strawberry-shaped skull with multiple small choroid plexus cysts.

 

Images 11, 12: 14+4 weeks of pregnancy; the image 11 shows transverse scan at the level of upper fetal lip with deep cleft of the lip and palate; the image 12 shows sagittal scan of nuchal region of the fetus with small subcutaneous cyst.

  

Images 13, 14: 14+4 weeks of pregnancy; the image 13 shows coronal scan at the level of fetal urinary bladder with single umbilical artery passing by; the image 14 shows two vessel umbilical cord with omphalomesenteric cyst.

 

Image 15: 14+4 weeks of pregnancy; the image 13 demonstrates massive regurgitation of the common valve via atrioventricular septal defect of the heart.



Videos 1, 2: 14+4 weeks of pregnancy; the video 1 shows transverse scan of the fetal heart at the level of the four-chamber view with hypoplastic left ventricle, dilated right ventricle and atrium, hypoplastic left heart, atrioventricular septal defect and insufficient common valve; the video 2 shows color Doppler scan of the heart at the level of the four-chamber view with massive regurgitation of the common valve.

 

Image 16: 14+4 weeks of pregnancy; the image shows transverse scan of fetal abdomen with horseshoe kidney.

Help Support TheFetus.net :