Objective To analyze the results of chromosome copy number variant sequencing(CNV-seq)combined with chromosome karyotype diagnosis for fetal nasal bone dysplasia 11 to 27 weeks of pregnancy.Methods A total of 432 cases which were diagnosed of hypoplastic nasal bone at the Department of Obstetrics,Guangzhou Women and Children's Medical Center Liuzhou Hospital from January 2020 to December 2022 were retrospectively included as study subjects,the CNV-seq and chromosome karyotype analysis were conducted,and their detection re-sults were analyzed.Results Of the 432 cases,36 cases(8.3％)were detected of chromosome abnormality by chromosome karyotype analysis,including 31 cases(7.2％)aneuploid,which consisted of 26 cases(6.0％)21-trisomy syndrome,3 casesO.69％)18-trisomy syndrome and other 2 cases(0.46％);and also another 5 cases(1.2％)structural abnormality;15 cases(3.47％)CNVs were detected by CNV-seq analysis,including 5 cases(1.2％)pathogenic CNVs and 10 cases(2.3％)variant of uncertain significance(VOUS).Conclusion Pregnant 11-27 weeks of nasal bone dysplasia is an important basis of chromosome abnormalities,chromosome karyotype and CNV-seq joint detection can effec-tively improve chromosome abnormalities detection rate,can be used as a method of prenatal diagnosis,help to chromosome aberration early diag-nosis and intervention,provide certain basis for genetics counseling and fertility guidance,reduce the occurrence of birth defects.
关键词
鼻骨发育不良/超声/染色体异常/染色体核型分析/染色体拷贝数变异测序
Key words
Hypoplastic nasal bone/Ultrasonography/Chromosome abnormality/Chromosome karyotype analysis/Copy number variation sequencing
万方数据