Prenatal diagnosis of 9p distal deletion associated with subependymal cysts: A case report and literature review

RATIONALE: Chromosome 9p deletions are frequently detected in postnatal cases presenting with diverse neurological symptoms. However, limited prenatal reports of these chromosomal disorders poses a challenge for genetic counseling during pregnancy. PATIENT CONCERNS: A pregnant woman underwent amniocentesis for cytogenetic analysis and a chromosomal microarray analysis (CMA) because of imaging findings indicating subependymal cysts. The prenatal phenotypes were reviewed on the basis of previous reports. DIAGNOSES: The fetal karyotype was 46,XN,del(9)(p22). The CMA showed a 16.65-Mb deletion in the 9p24.3p22.2 region. INTERVENTIONS: After genetic counseling, the couple chose to terminate the pregnancy. OUTCOMES: Fetal growth restriction and a single umbilical artery are common ultrasound findings detected in 9p deletions. LESSONS: The prenatal genotype-phenotype of 9p deletion syndrome is complicated because of phenotypic diversity and incomplete penetrance. To offer better genetic counseling for such cases, ultrasonographic, cytogenetic, and molecular genetic results should be combined.