Table 1.

Characteristics and findings in 22 cases of fetal malformation of cortical development (MCD)

Case	Neuroimaging findings	Extra‐CNS findings	GA (wks)	SGA	TOP*	PM	Final diagnosis	Genetic testing
1	MCD, VM due to cerebral hypoplasia, HoCC	—	21	—	Yes	Yes	Multifocal nodular heterotopia, cobblestone type cerebral dysplasia	Karyotype, 46,XY; CMA, normal
2	Cortical maldevelopment	Micrognathia, low‐set ears	36	Yes	—	—	MCD	Karyotype, 46,XY; no further genetic exam
3	Cerebral cysts, microcephaly, MCD, cavitation in ganglionic eminence	—	40	—	—	—	Microlissencephaly	Karyotype, 46,XX; CMA, normal; TES, normal
4	MCD, HoCC, VM, asymmetrical irregular ventricular wall, vermian hypoplasia, cysts in bilateral GE	Upper polydactyly (right) unilateral MCDK	37	—	—	—	MCD, polydactyly	Karyotype, 46,XY; CMA, normal; TES, in progress
5	Megalencephaly, severe hypoplastic CC, migration/proliferation disorder	Prominent forehead, low‐set ears, micrognathia	21	—	Yes	—	Polygyria, megalencephaly	Karyotype, 46,XY; CMA, paternal 10q UPD mosaicism; TES, PTEN mutation
6	Microcephaly, MCD, cerebellar hypoplasia	Flat face, micrognathia, adducted thumbs	35	Yes	—	—	MCD	Karyotype, 46,XY; CMA, normal; TES, normal
7	Focal cortical maldevelopment in bilateral parietal regions	—	21	—	Yes	Yes	Cobblestone type focal cortical dysplasia at parietal cortices, leptomeningeal heterotopia	Karyotype, 46,XY; CMA, normal
8	MCD of whole left hemisphere	—	21	—	Yes	Yes	Multiple heterotopic nodules, cortical polygyria in left hemisphere	Karyotype, 46,XY; no further genetic exam
9	VM, MCD, cerebellar dysplasia	—	21	—	Yes	Yes	Polymicrogyria and extensive neuroblast heterotopia in cortex, multiple nodular protuberance along the ventricular wall, HoCC, cerebellar hypoplasia	Karyotype, 46,XY; CMA, normal; TES, normal
10	Microcephaly, MCD, cerebellar hypoplasia	HLHS	40	—	—	—	MCD, HLHS, infantile death	Karyotype, 46,XX; CMA, interstitial duplication of 6q24.2 → q26, terminal deletion of 6q26 → qter
11	VM, MCD	—	37	—	—	—	MCD	Karyotype, 46,XX; CMA, normal; TES, normal
12	Lissencephaly, AoCC, multiple calcification in brain and placenta, cerebral dysplasia, MCD, microcephaly	—	41	—	—	—	Microlissencephaly	Karyotype, 46,XX; CMA, normal
13	VM, cerebral hypoplasia, MCD, HoCC	—	39	—	—	—	MCD, VM	Not performed
14	Unilateral schizencephaly, interhemispheric cyst, SP defect	—	39	—	—	—	Unilateral (left) schizencephaly	Not performed
15	MCD, cerebellar hypoplasia	HLHS, cleft lip/palate	39	Yes	—	—	MCD, HLHS, cleft lip/palate	Karyotype, 46,XX; CMA, normal
16	VM, MCD	Duodenal atresia	30	Yes	—	—	MCD, duodenal atresia	Karyotype, 46,XX; CMA, normal; TES, USP9X mutation
17	HoCC, MCD, asymmetrical VM	—	30	Yes	—	—	HoCC, MCD, VM	Not performed
18	Asymmetrical VM, thick hyperechogenic ventricular zone, partial AoCC, hypoplastic cerebra and cerebellum, MCD	Micrognathia, low‐set ears, excessive coiling cord	21	—	Yes	—	Mild VM, cerebellar hypoplasia, MCD	Karyotype, 46,XX; CMA, normal; TES, normal
19	Microcephaly, vermian hypoplasia, abnormal brain cyst, MCD	Placental multiple calcification, small kidneys	40	Yes	—	—	MCD	Karyotype, 47,XY,+der(22)t(11;22)(q23.3;q11.2)
20	VM with cortical maldevelopment, cerebellar hypoplasia	Cleft lip/palate, micrognathia, scoliosis	21	—	Yes	—	VM, MCD, cleft lip/palate, micrognathia, low‐set ears	Karyotype, 46,XY; CMA, normal; TES, normal
21	MCD, mild VM, HoCC	SUA	36	—	—	—	HoCC, MCD, VM	Karyotype, 46,XX; CMA, normal; TES, PPP2R1A mutation
22	Vermian defect, molar tooth sign, VM, MCD	Thick cardiac ventricular wall, MCDK, oligohydramnios,	32	—	—	—	Joubert syndrome, IUFD	Karyotype, 46,XX; CMA, normal; TES, TMEM67 mutation

^*Termination of pregnancy (TOP) < 22 weeks.

AoCC, agenesis of the corpus callosum; CC, corpus callosum; CMA, chromosomal microarray analysis; GA, gestational age at delivery; GE, ganglionic eminence; HLHS, hypoplastic left heart syndrome; HoCC, hypogenesis of the corpus callosum; IUFD, intrauterine fetal demise; MCDK, multicystic dysplastic kidney; PM, postmortem examination; PPP2R1A, protein phosphatase 2, structural/regulatory subunit A gene, alpha; PTEN, phosphatase and tensin homolog gene; SGA, small‐for‐gestational age (< −1.5 SD); SP, septum pellucidum; SUA; single umbilical artery; TES, targeted exome sequencing; TMEM67, transmembrane protein 67 gene; UPD, uniparental disomy; USP9X, ubiquitin specific peptidase 9 X‐linked gene; VM, ventriculomegaly; wks, weeks.