无创产前筛查在双胎妊娠染色体非整倍体筛查中的应用及胎儿游离DNA浓度分析  

Application of noninvasive prenatal screening for chromosome aneuploidy in twin pregnancy and and its fetal free DNA fraction analysis

作　　者：刘建珍[1] 陈鸿桢 孟祥荣 李熹翀 覃燕龄 林铿[1] 许碧秋 Liu Jianzhen;Chen Hongzhen;Meng Xiangrong;Li Xichong;Qin yanling;Lin Keng;Xu Biqiu(Huadu Maternity and Child Healthcare Hospital,Guangzhou,Guangdong,China,510800;不详)

机构地区：[1]广州市花都区妇幼保健院检验科,广东广州510800 [2]广州市花都区妇幼保健院生殖医学科,广东广州510800 [3]广州市花都区妇幼保健院医学遗传学与产前诊断科,广东广州510800

出　　处：《中国产前诊断杂志（电子版）》2023年第4期22-26,共5页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：广州市花都区卫生健康局一般科研专项项目(22-HDWS-099);广州市花都区妇幼保健院(胡忠医院)院内科研项目(2023B01)。

摘　　要：目的评估无创产前筛查(non-invasive prenatal testing,NIPT)在双胎妊娠染色体非整倍体的应用价值,并对胎儿游离DNA浓度进行分析。方法收集2018年1月至2023年5月在广州市花都区妇幼保健院接受NIPT检测的双胎样本617例(辅助生殖双胎284例,自然妊娠双胎333例)为研究对象,同期12688例单胎妊娠样本作为对照,采用高通量测序方法进行检测,对染色体非整倍体高风险样本行核型分析,根据Y染色体唯一比对条数对男胎进行胎儿游离DNA浓度计算,使用基于浅深度的母亲血浆DNA测序方法(SeqFF)对女胎进行胎儿游离DNA浓度计算。结果双胎妊娠检出2例T21和1例T18,未检出T13,T21、T18的阳性预测值分别为100%、0,阴性预测值均为100%;单胎妊娠T21、T18、T13的阳性预测值分别为88.89%、45.45%、25%,阴性预测值均为100%。双胎妊娠胎儿游离DNA浓度为10.48%,较单胎妊娠(11.35%)稍低;双胎妊娠首次建库成功率为99.03%,较单胎妊娠(99.99%)低,差异有统计学意义(χ^(2)=104.105,P=0.00)。结论NIPT在双胎妊娠染色体非整倍体筛查有一定应用价值,T21筛查效率高,胎儿游离DNA浓度影响NIPT检测的成败和结果准确性。Objective To evaluate the value of non-invasive prenatal testing(NIPT)in the diagnosis of chromosome aneuploidy in twin pregnancies and to analyze the concentration of fetal free DNA.Methods A total of 617 twins(284 twins with assisted reproduction and 333 twins with natural pregnancy)tested by NIPT in Huadu District Maternal and Child Health Hospital of Guangzhou from January 2018 to May 2023 were collected as the study objects,and 12688 single pregnancy samples were taken as the control during the same period,and tested by high-throughput sequencing method.The high risk samples of chromosome aneuploidy were karyotyped and the concentration of fetal free DNA was calculated according to the number of unique alignment of Y chromosome.Fetal free DNA concentration was calculated in female fetuses using a shallow-depth maternal plasma DNA sequencing data(SeqFF).Results In twin pregnancy,T21 was detected in 2 cases and T18 in 1 case,but no T13 was detected.The positive predictive values of T21 and T18 were 100%and 0,respectively,and the negative predictive values were 100%.In single pregnancy,the positive predictive values of T21,T18 and T13 were 88.89%,45.45%and 25%,respectively,and the negative predictive values were 100%.The concentration of free DNA in twin pregnancy was 10.48%,which was lower than that in single pregnancy(11.35%).The success rate of twin pregnancy was 99.03%,which was lower than that of single pregnancy(99.99%).(χ^(2)=104.105,P=0.00).Conclusion NIPT has a certain application value in the screening of chromosome aneuploidy in twin pregnancy,T21 screening is highly efficient,and the concentration of fetal free DNA affects the success or failure of NIPT detection and the accuracy of the results.

关 键 词：无创产前筛查 双胎妊娠 染色体非整倍体 胎儿游离DNA浓度 

分 类 号：R715.5[医药卫生—妇产科学]