STOP//Prenatal Diagnosis and Clinical Phenotypic Analysis of 100 Cases with 16p Microdeletion/Microduplication Syndromes

Objective To explore the clinical characteristics and pregnancy outcomes of 16p13.11, 16p12.2, and 16p11.2 microdeletion and microduplication syndromes, and to provide scientific basis for prenatal diagnosis and genetic counseling.Methods A retrospective analysis was conducted on 100 cases of 16p13.11, 16p12.2, and 16p11.2 microdeletion/microduplication syndrome diagnosed by CNV-seq technology from January 2020 to December 2024. Systematic analysis was carried out based on clinical data, and follow-up tracking was conducted on pregnancy outcomes and fetal birth conditions.Results Among the 100 fetuses, the distribution of CNVs was as follows: 21 cases of 16p13.11 microdeletion, 31 cases of microduplication; 11 cases of 16p12.2 microdeletion;25 cases of 16p11.2 microdeletion, 12 cases of microduplication. Among the 100 cases, 37 cases had ultrasound abnormalities，the main ultrasound abnormalities were cardiovascular malformations (8 cases ), NT thickening (7 cases ), urinary system developmental abnormalities (6 cases ), and cleft lip and palate (3 cases ). The parental origin of 41 cases was traced: 11 cases were paternal, 13 cases were maternal, and 17 cases were new mutations. Follow-up results showed that 11 cases terminated pregnancy, 3 cases had congenital malformations (anal atresia, biliary atresia, ventricular septal defect), and 7 cases (over 2 years old) presented with language development delay.Conclusion The phenotypes of 16p13.11, 16p12.2, and 16p11.2 microdeletion/microduplication syndrome are complex and highly heterogeneous, and can involve multiple systems. Prenatal ultrasound abnormalities (such as NT thickening, cardiovascular and urinary system malformations) are of great value in suggesting such syndromes. After birth, attention should be paid to the risk of language development delay, and long-term follow-up is recommended to assess potential neurodevelopmental impacts.