To explore the prenatal ultrasound features of fetal cerebellar cortical dysplasia.

Referring to the relevant literature on cerebellar cortical dysplasia and based on its magnetic resonance imaging findings, anatomy, genetic results, and clinical prognosis, the prenatal ultrasonographic manifestations of 19 fetuses with cerebellar cortical dysplasia diagnosed by ultrasound at Department of Ultrasound, Shenzhen Maternity and Child Healthcare Hospital Affiliated to Nanfang Medical University from January 2017 to December 2020 were summarized.

The prenatal ultrasonogram of cerebellar cortical dysplasia was characterized by abnormal orientation of fissures, and oblique, vertical, or distorted fissures. Genetic tests were performed in 12 cases, of which 9 had positive results and 3 had negative results. Three of the 19 fetuses after birth were followed up to 17 months, 24 months, and 24 months, respectively; the head circumference of one case was larger than that of normal infants of the same age though no obvious abnormality in psychomotor development was found, one case had only fine motor deficiency, and one case had poor outcome, including global developmental delay, mental retardation, and epilepsy. Pregnancy was terminated in all the other 16 cases.

Cerebellar cortical dysplasia can be prenatally diagnosed based on the characteristic ultrasonic features. Cerebellar cortical dysplasia rarely presents as a single finding and is commonly associated with malformations of the brain or other posterior fossa malformations, chromosomal abnormalities, and genetic syndromes. It is difficult to accurately assess the risk of poor prognosis of cerebellar cortical dysplasia.