无创产前诊断在胎儿单基因病中的诊断价值初探  

Preliminary study on the diagnustie value of non-invasive prenatal diagnosis in fetal monoenie diseases

作　　者：郑笑珠 黄慧[1] 韩瑞宁 Zheng Xiaozhu;Hwang Hui;Han Ruining(The eighth Affiliated Hospital of Sun Yat sen University,Shenzhen,Guangdong 518033,China)

机构地区：[1]中山大学附属第八医院,广东深圳518033

出　　处：《中国产前诊断杂志（电子版）》2023年第1期46-48,共3页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：深圳市福田区卫生公益性科研项目(FTWS2018088)。

摘　　要：目的初步探讨无创产前诊断在胎儿单基因病中的诊断价值。方法通过基于目标序列捕获技术的高通量测序方法检测8例可能孕有单基因病胎儿并决定引产的孕妇外周血进行基因测序,以引产胎儿绒毛组织基因检测的结果为诊断的金标准。结果8例孕妇均行外周血胎儿游离DNA高通量基因测序,结果提示:病例1检测出COL1A2基因发生c.2962G>T突变,为胎儿成骨发育不全;病例4和7检测到FGFR3基因发生c.742C>T突变,为致死性侏儒;其余病例未检测到明显致病性突变,引产后发现胎儿存在不同程度的宫内生长受限。与引产绒毛组织基因检测结果比对证实,符合率100%。结论无创产前诊断检测可在产前明确胎儿异常的病因方面发挥作用,为患者提供准确的遗传咨询及下一次妊娠指导。Ohjective To explore the value of noninvasive prenatal diagnosis in fetal monogenic diseases.Methods Through highr throughput sequencing method based on target sequence capture technology,the peripheral blood of 8 Pregnant women who may be pregnant wit h monogenic disease and decide to induce labor were sequenced,and the results of gene detection in the villus tissue of the induced labor fetus were used as the gold standard for diagnosis.Results The high-throughput gene sequencing of fetal free DNA from peripheral blood was performed in 8 pregnant women.The results showed that the COL1A2 c.2962 C>T mutation was detected in case 1,which was fetal osteogenesis hypoplasia;FGFR3 c.742C>T mutation was detected in cases 4 and 7,which was fatal dwarf;No obvious pathogenic mutation was detected in other cases,and different degrees of intrauterine growth res tric tion was found in induced labor.Compared with the results of gene detection in induced vllus tissue,the coincidence rate was 100%..Conclusion noninvasive prenatal diagnosis can clarify the etiology of fetal abnormalities,and provide accurate genetic counseling and next pregnancy guidance for patients.

关 键 词：单基因病 无创产前诊断 高通量测序 游离胎儿DNA 

分 类 号：R715.5[医药卫生—妇产科学]