Case presentation A 26-year-old woman (P0+1) had suffered a miscarriage during her first pregnancy. The patient had a clean family and social history with no past illness. However, the patient did not take the triple and nuchal translucency tests at 13 weeks. Ultrasonographic examination A scan done at 23 weeks showed that: The fetus's skull was clover-leaf shaped , wide forehead with a broad and general intracranial calcification. The fetus had distinctive facial features characterized by proptosis, hypertelorism, absent nasal bone, and micrognathia.
The hands showed bilateral brachydactyly. Both the parents were informed about the possibility of a genetic syndrome and severe neurological defects in the future. However, the parents decided to have a baby and did not consider termination or amniocentesis. Labor history At 27-weeks, the woman was scanned again, and the diagnosis was…
