联合运用多种技术诊断NIPT检测阳性的9-三体嵌合型胎儿1例

Combined use of multiple techniques in the diagnosis of 9-trisomy chimeric fetus with positive NIPT:a case report

探讨联合运用多种技术诊断NIPT检测阳性的9-三体嵌合型胎儿的临床意义。通过超声、羊膜腔穿刺术、SNP array芯片检测、Affymetrix Cyto Scan 750k Array芯片检测、水行FISH检测等多种诊断技术进行诊断分析。超声检查未发现异常;常规染色体检测未发现染色体异常;Affymetrix Cyto Scan 750k Array芯片检测结果显示,胎儿疑似为低比例9-三体嵌合患者;CEP9探针FISH结果显示,胎儿为9号染色体三体嵌合携带者。对NIPT提示异常者,通过SNP array芯片及FISH多技术能提高9号染色体嵌合体的检出率,弥补了核型分析漏诊。

To explore the clinical significance of combined application of various techniques in the diagnosis of 9-trisomy chimeric fetus with positive NIPT.Through ultrasound,amniocentesis,SNP array chip detection,Affymetrix Cyto Scan 750 k Array chip detection,aquatic FISH detection and other diagnostic techniques for diagnosis and analysis.No abnormality was found by ultrasonography;No chromosome abnormality was found in routine chromosome test.The results of Affymetrix Cyto Scan 750 k array showed that the fetus was suspected to be a low proportion of 9-trisomy patients.Fish results of CEP9 probe showed that the fetus was a trisomy 9 chimeric carrier.For patients with abnormal NIPT,SNP array chip and FISH multi-technology can improve the detection rate of chromosome 9 mosaicism and make up for the missed diagnosis of karyotype analysis.