UNASSIGNED:评估非侵入性产前检测(NIPT)在双胎妊娠胎儿染色体非整倍体筛查中的临床效率。
未经评估:共有1650名双胎妊娠妇女参加了这项研究,在西南医院接受了NIPT,陆军医科大学,重庆,中国从2013年1月到2022年6月。在高危患者中进行胎儿核型分析,随后对妊娠结局进行随访。
未经批准:在1650次怀孕中,NIPT结果显示10例胎儿染色体非整倍体,其中真阳性6例,假阳性4例。敏感性,特异性,阳性预测值(PPV),21三体的假阳性率(FPR)为100%,99.79%,57.14%,和0.18%,分别。灵敏度,特异性,PPV,18三体的FPR为100%,99.94%,50%,和0.06%,分别。敏感性,特异性,PPV,13三体的FPR为100%,100%,100%,0%,分别。未检测到假阴性,阴性预测值(NPV)为总数的100%。由于胎儿分数低(<4%),有11例妊娠未通过NIPT测试,但未进行呼叫。
UNASSIGNED:NIPT是双胎妊娠中一种高性能的常规产前筛查测试,在胎儿非整倍体筛查中具有较高的敏感性和特异性。
UNASSIGNED: To evaluate the clinical efficiency of noninvasive prenatal testing (NIPT) for fetal chromosomal aneuploidy screening in twin pregnancies.
UNASSIGNED: A total of 1650 women with twin pregnancies were enrolled in the study, which underwent NIPT at the Southwest Hospital, Army Medical University, Chongqing, China from January 2013 to June 2022. Fetal karyotyping analysis was conducted in high-risk patients, with subsequent follow-up on pregnancy outcomes.
UNASSIGNED: In 1650 pregnancies, NIPT results showed ten cases of the fetal chromosome aneuploidy, of which six cases were true positive and four cases were false positive. The sensitivity, specificity, positive predictive value (PPV), and false-positive rate (FPR) of trisomy 21 were 100%, 99.79%, 57.14%, and 0.18%, respectively. Sensitivity, specificity, PPV, and FPR of trisomy 18 were 100%, 99.94%, 50%, and 0.06%, respectively. The sensitivity, specificity, PPV, and FPR of trisomy 13 were 100%, 100%, 100%, and 0%, respectively. No false negatives were detected and the negative predictive value (NPV) was 100% of the total. Eleven pregnancies failed the NIPT test with no-call due to the low fetal fraction (< 4%).
UNASSIGNED: NIPT is a high-performing routine primary prenatal screening test in twin pregnancies, with high sensitivity and specificity in screening for fetal aneuploidy.