摘要本文报道1例15号完整环状染色体的产前诊断病例。孕妇38岁，经体外受精-冷冻胚胎移植受孕，因高龄于孕18周 +5 在重庆医科大学附属妇女儿童医院行羊膜腔穿刺抽取羊水进行产前诊断。羊水细胞染色体核型分析结果为mos 46,XX,r(15)[88]/45,X,-15[11]/46,XX,r(15;15)[1]，染色体微阵列分析结果提示未发现染色体数目异常及明确致病性拷贝数变异。孕31周 +6 再次行羊膜腔穿刺，基因组拷贝数变异测序（copy number variation sequencing，CNV-seq）结果提示未检出致病性拷贝数变异；培养后羊水细胞荧光原位杂交检测结果为nuc ish(15q)×1[15]/(15q)×3[5]/(15q)×2[80]。综合以上产前检测结果，提示该胎儿为15号完整环状染色体。因夫妇双方外周血染色体均未见异常，产前超声检查及外院系统超声均未提示明显异常，经遗传咨询，孕妇决定继续妊娠并于孕41周分娩一女婴。随访至7月龄婴儿生长发育未见异常。

abstractsThis article reported a prenatally diagnosed case of complete ring chromosome 15. A 38-year-old woman who conceived by in vitro fertilization and frozen embryo transfer underwent amniocentesis for prenatal diagnosis at 18 +5 weeks of gestation due to advanced maternal age. The result of G-banding karyotyping was mos 46,XX,r(15)[88]/45,X,-15[11]/46,XX,r(15;15)[1]. No numerical abnormalities of chromosomes or definite pathogenic copy number variations (CNVs) were detected by chromosomal microarray analysis. Amniocentesis was performed again at 31 +6 weeks of gestation. The result of genome copy number variation sequencing indicated no pathogenic CNV and fluorescence in situ hybridization on cultured amniocytes revealed nuc ish(15q)×1[15]/(15q)×3[5]/(15q)×2[80]. Based on all the prenatal diagnosis results, it was suggested that the fetus carried a complete ring chromosome 15. As the peripheral blood chromosomes of the couple were normal and no obvious abnormalities were detected by the prenatal ultrasound either in our hospital or another hospital, the pregnant woman decided to continue the pregnancy after genetic counseling and delivered a baby girl at 41 weeks of gestation. The girl showed no physical abnormalities during a seven-month follow-up.