基于游离DNA单分子标签检测技术的眼皮肤白化病Ⅰ型的无创产前检测

目的探讨基于游离DNA单分子标签检测技术(cfDNA barcode-enabled single-molecule test,cfBEST)的无创产前检测方法对于眼皮肤白化病Ⅰ型产前诊断的价值。方法采用cfBEST方法为1个眼皮肤白化病Ⅰ型家系提供无创产前检测,之后通过羊膜腔穿刺产前诊断进行验证,并随访妊娠的结局。结果cfBEST的无创产前检测结果显示,胎儿游离DNA浓度为6.6%,眼皮肤白化病Ⅰ型相关的TYR基因c.929_930insC(p.Arg311Lysfs*7)变异占比为45.7%,c.1037-7T>A变异占比为0%,且2个变异未检出的后验概率均为1,提示胎儿未携带这两个变异。经羊膜腔穿刺产前诊断验证,结果一致,随访提示胎儿正常。结论基于cfBEST技术的无创产前检测方法可用于检测血浆游离DNA中的母婴基因型组合,具有临床可行性。

Non-invasive prenatal detection of ocutaneous albinism type I based on cfDNA barcode-enabled single-molecule test

Objective To assess the value of non-invasive prenatal testing based on cfDNA barcode-enabled single-molecule test(cfBEST)for the prenatal diagnosis of oculocutaneous albinism type I in a family.Methods Prenatal genetic diagnosis was carried out by using the cfBEST-based method as well as invasive prenatal diagnosis through amniocentesis.The outcome of the pregnancy was followed up.Results Non-invasive prenatal testing based on cfBEST showed a fetal DNA concentration of 6.6%,with the proportion of c.929_930insC(p.Arg311Lysfs*7)and c.1037-7T>A mutations being 45.7% and 0%,respectively.The posterior frequency of the negative results was 1,suggesting that the fetus carried neither of the two mutations.The result was consistent with that of invasive prenatal diagnosis,and the follow-up found that the fetus was normal.Conclusion Non-invasive prenatal testing based on cfBEST can be used to detect maternal and fetal genotypes in maternal cell-free DNA,which is clinically feasible.