PMC5997782_01
Ultrasonographic images of the fetus.
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PMC5997782_01_fendo-09-00292-g001.jpg
F1
First-trimester ultrasonographic screening for chromosomal anomalies revealed a large NT of 6.4-7 mm, with thin septae limited to the back of the fetus; the nasal bone was present, and normal blood flow was observed through the ductus venosus and tricuspid valve (Figure 1).
The family pedigree [according to Ref. ].
fendo-09-00292-g002.jpg
PMC5997782_01_fendo-09-00292-g002.jpg
F2
Genetic testing of the parents and the previous offspring revealed that they were both heterozygous (carriers) for the abovementioned mutation, although their first child was not affected (Figure 2).