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Articles » Aneuploidy » Trisomy 21

2010-09-19-16 Trisomy 21 - severe form, 33 weeks © Grochal

Trisomy 21 - severe form, 33 weeks

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 28 year-old woman (G1P0) from a nonconsanguineous couple, first time visited our center at 32+4 weeks of her pregnancy. Our ultrasound examination revealed a severely stigmatized fetus with several distinctive features of Down syndrome, although some of the findings were confusing (small thorax, micromelia) and led us to think also of a skeletal dysplasia in our differential diagnostic. The parents refused prenatal invasive testing. The baby was born at 38 weeks, but died two days later because of cardiac failure and pulmonary hypoplasia. Postnatal genetic testing confirmed the diagnosis of trisomy 21 (Down syndrome).

Here are some images and videos that were taken during our examination.

Images 1, 2, 3, 4, and video 1: 32+4 weeks of pregnancy; the images and video show 3D visualization of severally stigmatized fetus with Down syndrome. Note very flat face, small nose with almost absent nasal bridge, up-slanting palpebral fisures, macroglossia (tongue protruding out of the mouth).



Images 5, 6, 7: 32+4 weeks of pregnancy; the image 5 shows fetal ear with overfolding of the upper helix (one of the less striking features of the Down syndrome); the image 6 shows fetal hand - brachydactyly and slightly marked simian crease can be seen; the image 7 shows fetal foot with "sandal gap" and syndactyly of the third and forth toes.


Images 8, 9: 32+4 weeks of pregnancy; the image 8 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 flat facial profile. The image 9 shows sagittal scan of the fetal face with short nasal bone and prenasal edema.


Images 10, 11, 12, and video 2: 32+4 weeks of pregnancy; the images and video show four-chamber view of the fetal heart with incomplete atrioventricular septal defect (AVSD). Blood flow across the atrioventricular septal defect can be seen on the image 12 (blue flow).



Images 13, 14: 32+4 weeks of pregnancy; the image 13 shows sagittal scan of the fetal thorax and abdomen - the thorax appeared hypoplastic with the heart occupying almost the whole section of the fetal chest. The size of the chest looked smaller also because of abnormally enlarged fetal abdomen due to hepatomegaly (images 13, 14).


Images 15, 16: 32+4 weeks of pregnancy; the images show short tibia and ulna of the fetus - all long bones (femur, tibia, fibula, humerus, ulna, radius), were shorter in our case (below 5%).


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