Table 2. Prenatal ultrasound data, outcome and postnatal examination of the severely symptomatic patients from the discovery cohort.

Patient ID	Prenatal ultrasound data	MRI	Outcome	Postnatal examination
DC_S14	Hyperechogenic bowel, ventriculomegaly measured at 11mm	Microcephaly, white matter lesions	TOP (32w)	Microcephaly, ventriculomegaly, periventricular leukomalacia, hepatomegaly, hepatocellular necrosis, tubulointerstitial nephritis
DC_S15	Hyperechogenic bowel, placentomegaly, microcephaly, periventricular necrosis, lateral ventricle partitioning	Not done	TOP (24w)	Microencephaly, Periventricular leukomalacia, hydrocephaly, micropolygyria, hepatitis, placental vilitis
DC_S16	IUGR, hyperechogenic bowel, multiple intracerebral calcifications	Not done	TOP (25w)	Hydrocephalus, left hemisphere atrophy, diffused gliosis basal ganglia calcifications and vasculitis
DC_S17	Microcephaly, growth restriction, hepatomegaly, hyperechogenic bowel, multiple intra cranial calcification, hypoplasia of the corpus callosum	Not done	TOP (26w)	Hydrocephalus, diffused gliosis, micropolygyria, cerebral vasculitis hypotrophy and meningitis
DC_S18	IUGR, microcephaly, multiple intra cerebral calcifications, ventriculomegaly	Microencephaly, white matter lesions	Birth	Severe psychomotor developmental delay, epilepsy, bilateral severe hearing loss, diagnosed at birth and at the age of 8
DC_S19	Ventriculomegaly, lissencephaly, intra cerebral clastic lesions	Lissencephaly, polymicrogyria, white matter lesions	TOP (33w)	Hydrocephalus, periventricular leukomalacia, polymicrogyria, hepatomegaly, splenomegaly
DC_S20	Hepatomegaly, ascites, hyperechogenic bowel, ventriculomegaly, periventricular leukomalacia	Not done	TOP (24w)	Microcephaly, periventricular leukomalacia, cerebellar necrosis, diffuse white matter necrosis, hepatomegaly, splenomegaly, liver necrosis
DC_S21	Ventriculomegaly measured at 11mm, brain gyration abnormalities, multiple intracranial calcifications	Not done	TOP (25w)	Polymicrogyria, diffuse white matter necrosis and gliosis, chronic placental vilitis
DC_S22	Liver calcifications, hyperechogenic bowel, microcephaly, multiple intra cerebral calcifications	Not done	TOP (27w)	Microcephaly multiple intra cerebral calcifications and gliosis
DC_S23	Lateral ventricle partitioning,	Diffuse white matter lesions, intraventricular adhesions.	TOP (28w)	Encephalitis, white matter necrosis, chronic placental vilitis
DC_S24	Hyperechogenic bowel	Not done	TOP (23w)	Grade 4 Intra ventricular hemorrhage, diffuse gliosis, micro-encephaly, placental villitis
DC_S25	Microcephaly, ventriculomegaly, hyperechogenic bowel, liver calcifications, IUGR	Not done	TOP (24w)	Microcephaly, hydrocephalus, grade 3 intraventricular hemorrhage, exoensive white matter necrosis, diffuse intra cerebral calcifications, liver necrosis
DC_S26	Ascitis, pericardial effusion, hydrocephalus	Not done	TOP (25w)	Not done

TOP, termination of pregnancy; IUGR, intra uterine growth restriction; w, weeks of pregnancy