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Articles » Aneuploidy » Trisomy 21
2008-12-12-13 Trisomy 21 © Grochal
Trisomy 21, atrioventricular septal defect

Frantisek Grochal, MD*; Robert Dankovcik, MD, PhD**; Stela Muranska, MD**.

*  UVN SNP Ruzomberok, Gynekologicko-porodnicke oddelenie, Povazska 2, 034 01, Ruzomberok, Slovak Republic;
** Centrum prenatalnej diagnostiky, s. r. o., Masarykova 17/A, 040 01 Kosice, Slovak Republic.

Case report

A 21-year-old woman (G2P1) was sent to our unit at her 23rd week of pregnancy for an abnormal triple test. Her first trimester ultrasound was reported to be normal. Our ultrasound examination revealed following findings:

  • Atrioventricular septal defect (complete form);
  • Bilateral choroid plexus cyst;
  • Short nasal bone;
  • Prenasal edema (nuchal fold thickness was 5.1 mm - e. g. just close to the upper limit of 6 mm).

The findings were suggestive of chromosomal anomaly (especially trisomy 21) and amniocentesis with PCR testing was performed immediately. The results confirmed the diagnosis of trisomy 21.

Images 1, 2: The images show the four-chamber view of the fetal heart with the atrioventricular septal defect (AVSD). The image represents a fusion of the image1 with a drawing describing the visible structures.


Video 1 and image 3: The video shows the four-chamber view of the fetal heart with the complete form of the atrioventricular septal defect (AVSD). Note the common valve, flaps of which meets at the same level during the ventricular systole, and opens towards the defective interventricular septum during diastole. The image 3 shows a color Doppler scan at the level of the four-chamber view with a large central fusion of the right and left blood flows due to the atrioventricular septal defect.


Images 4, 5: The image 4 shows a sagittal scan of the fetal head. Note the prenasal edema and short nasal bone - 5.7 mm. The image 5 shows a transverse scan of the fetal head at the level of the orbits. Note the nasal bones don"t exceed the tangent of the anterior poles of the eyeballs, indicating a flat facial profile.


Images 6, 7: The image 6 shows a transverse scan of the fetal head at the level of the lateral ventricles. The choroid plexus cysts can be seen (asterisks). The head has a brachycephalic configuration. The image 7 shows a measurement of the nuchal fold thickness (5.19 mm). The value was within normal limit, but close to the upper border of 6 mm.




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