Prenatal diagnosis and genetic counseling of a de novo 16q24.3 microdeletion in a Chinese family

Background Copy number variations represent a key source of genomic variability, encompassing both benign and pathogenic alterations. Accurate interpretation of copy number variations identified through prenatal screening is critical for effective genetic consultation and clinical management. Microdeletions within the 16q24.3 locus remain understudied, thereby complicating genetic counseling for affected cases. Case presentation: This study describes the prenatal diagnostic workup and genetic counseling process for a Chinese family with a fetus carrying a de novo 16q24.3 microdeletion. Conclusion Conventional cytogenetic techniques exhibit limited sensitivity for the detection of chromosomal microdeletions and microduplications. A multimodal approach integrating prenatal ultrasound, karyotyping, chromosomal microarray analysis, and genetic counseling enhances the diagnostic accuracy of such chromosomal anomalies during pregnancy.