PMC9629614_01
Pedigree and fetal ultrasound scan and MRI findings. (A) Pedigree of the family. The arrow refers to the proband. The solid circle (female) and triangle (fetus) represent the affected siblings; (B) ultrasound and MR imaging in the fetus (II 2): the enlarged bilateral ventricles, intraventricular hemorrhage and severe hydrocephalus, the infantile edema of the skin, bilateral pleural effusion, and ascites in the fetus; (C) ultrasound and MR imaging in the fetus (II 3): the enlarged bilateral ventricles, intraventricular hemorrhage, and severe hydrocephalus in the fetus.
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F1
Their first female child (II 1) was delivered by emergency cesarean section at the 34th week of gestation (Figure 1A). Fetal cranial magnetic resonance imaging (MRI) at the 29th week revealed hydrocephalus and dilated ventricles (Figure 1B). The ultrasound scan at the 31st week showed severe cerebral ventriculomegaly measuring 30 mm, edema of the skin, bilateral pleural effusion, and ascites in the fetus (Figure 1B). Fetal cranial MRI was performed at the 24th week, and dilated ventricles and intraventricular hemorrhage were observed (Figure 1C). Bright echogenic linings were described in the bilateral choroid plexus (Figure 1C).