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.

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.