PMC6304208_01
Two-dimensional ultrasound images at 17 weeks of gestation. (1a) The fetus demonstrating typical features of anencephaly ("Mickey Mouse" sign; white arrows). The calvarium is absent, and the brain is "floating" in the amniotic fluid. (1b) Absence of vertebral posterior elements with splaying of the lamina at the thoracic level (white arrowhead). (1c) The lower limbs appeared to be fused together in fixed extension with two femora and two tibiae (white dashed arrows).
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There was an unremarkable medical history and family history and no history of drugs or substance abuse. 2D ultrasound images (Voluson E8; GE Medical Systems, Zipf, Austria) revealed the absence of calvarium with deformed brain tissue directly exposed to the amniotic cavity, suggestive of exencephaly (Figure 1(a)). The fetal spine also showed the absence of vertebral posterior elements with splaying of the lamina at the thoracic level (Figure 1(b)). The lower limbs appeared to be fused in fixed extension with two femora and two tibiae (Figure 1(c)); however, we were not able to identify whether there were one or two feet.
Three-dimensional HDlive rendering images at 17 weeks of gestation. (2a) Deformed and degenerated brain tissues are evident (white arrow). Absence of the right upper limb (white open arrow). (2b) The spine showed extensive clefts in the posterior part of the fetal vertebrae from the upper cervical region to the sacrum (white arrowheads). (2c) The lower extremities were completely fused, and the feet were fused with the heels, which were immobile (white dashed arrows).
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Color Doppler showed a single umbilical artery. 3D rendering images using 4D ultrasound with HDlive mode clearly revealed the absence of calvarium with deformed and degenerated brain tissues, consistent with exencephaly (Figure 2(a)). The spine also showed extensive clefts in the posterior part of the fetal vertebrae from the upper cervical region to the sacrum (Figure 2(b)). The lower extremities were completely fused, and the feet were fused with the heels, which were immobile (Figure 2(c)). Absence of the right upper limb was also identified (Figure 2(a)).
Macroscopic views of the aborted fetus. (3a) External examination of the fetus showed anencephaly (white arrow), fused lower limbs, and nine toes with a fused bilateral thumb (white dashed arrows). (3b) Craniorachischisis totalis (white arrowheads). (3c) Absence of the right upper limb (white open arrow).
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External examination of the fetus revealed anencephaly with craniorachischisis totalis (Figure 3(a)), fused lower limbs (Figure 3(a)), nine toes with a fused bilateral thumb (Figure 3(a)), absence of the right upper limb (Figure 3(c)) and external genitalia, and imperforate anus, almost coinciding with the observation on the 3D sonographic rendering images.
Autopsy imaging by radiography. The radiographs demonstrated complete rachischisis (white arrowheads) and the single lower limb containing two femora and two tibiae (white dashed arrows) and some metatarsals and phalanges (white open arrowhead).
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The autopsy imaging by radiography demonstrated complete rachischisis (Figure 4). The single lower limb contained two femora and two tibiae with some metatarsals and phalanges (Figure 4).