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).