Abstract：
UNASSIGNED: Noninvasive prenatal screening (NIPS) has shown good performance in screening common aneuploidies. However, its performance in detecting fetal sex chromosome aneuploidies (SCAs) needs to be evaluated in a large cohort.
UNASSIGNED: In this retrospective observation, a total of 116,862 women underwent NIPS based on DNA nanoball sequencing from 2015 to 2022. SCAs were diagnosed based on karyotyping or chromosomal microarray analysis (CMA). Among them, 2,084 singleton pregnancies received karyotyping and/or CMA. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of NIPS for fetal SCAs were evaluated.
UNASSIGNED: The sensitivity was 97.7% (95%CI, 87.7-99.9), 87.3% (95% CI, 76.5-94.4), 96.1% (95%CI, 86.5-99.5), and 95.7% (95% CI, 78.1-99.9), the PPV was 25.8% (95%CI, 19.2-33.2), 80.9% (95%CI, 69.5-89.4), 79.0% (95%CI, 66.8-88.3), and 53.7% (95%CI, 37.4-69.3) for 45,X, 47,XXY, 47,XXX, and 47,XYY, respectively. The specificity was 94.1% (95%CI, 93.0-95.1) for 45,X, and more than 99.0% for sex chromosome trisomy (SCT). The NPV was over 99.0% for all.
UNASSIGNED: NIPS screening for fetal SCAs has high sensitivity, specificity and NPV. The PPV of SCAs was moderate, but that of 45,X was lower than that of SCTs. Invasive prenatal diagnosis should be recommended for high-risk patients.
UNASSIGNED: In this retrospective observation, a total of 116,862 women underwent NIPS based on DNA nanoball sequencing from 2015 to 2022. SCAs were diagnosed based on karyotyping or chromosomal microarray analysis (CMA). Among them, 2,084 singleton pregnancies received karyotyping and/or CMA. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of NIPS for fetal SCAs were evaluated.
UNASSIGNED: The sensitivity was 97.7% (95%CI, 87.7-99.9), 87.3% (95% CI, 76.5-94.4), 96.1% (95%CI, 86.5-99.5), and 95.7% (95% CI, 78.1-99.9), the PPV was 25.8% (95%CI, 19.2-33.2), 80.9% (95%CI, 69.5-89.4), 79.0% (95%CI, 66.8-88.3), and 53.7% (95%CI, 37.4-69.3) for 45,X, 47,XXY, 47,XXX, and 47,XYY, respectively. The specificity was 94.1% (95%CI, 93.0-95.1) for 45,X, and more than 99.0% for sex chromosome trisomy (SCT). The NPV was over 99.0% for all.
UNASSIGNED: NIPS screening for fetal SCAs has high sensitivity, specificity and NPV. The PPV of SCAs was moderate, but that of 45,X was lower than that of SCTs. Invasive prenatal diagnosis should be recommended for high-risk patients.
摘要：
■非侵入性产前筛查（NIPS）在筛查常见非整倍体方面显示出良好的性能。然而,其在检测胎儿性染色体非整倍体(SCAs)方面的表现需要在大型队列中进行评估.
■在此回顾性观察中，从2015年至2022年,共有116,862名女性接受了基于DNA纳米球测序的NIPS.根据核型分析或染色体微阵列分析（CMA）诊断SCA。其中,2,084例单胎妊娠接受了核型分析和/或CMA。敏感性,特异性，阳性预测值(PPV)，评估NIPS对胎儿SCAs的阴性预测值（NPV）。
■灵敏度为97.7%（95CI，87.7-99.9），87.3%（95%CI，76.5-94.4），96.1%（95CI，86.5-99.5），和95.7%（95%CI，78.1-99.9），PPV为25.8%(95CI，19.2-33.2)，80.9%（95CI，69.5-89.4），79.0%（95CI，66.8-88.3），和53.7%（95CI，37.4-69.3），45，X，47,XXY,47,XXX,和47，XYY，分别。45，X的特异性为94.1%(95CI，93.0-95.1)，性染色体三体性(SCT)占99.0%以上。NPV均超过99.0%。
■NIPS筛查胎儿SCA具有很高的敏感性，特异性和净现值。SCA的PPV适中，但45，X低于SCT。建议对高危患者进行有创产前诊断。
■在此回顾性观察中，从2015年至2022年,共有116,862名女性接受了基于DNA纳米球测序的NIPS.根据核型分析或染色体微阵列分析（CMA）诊断SCA。其中,2,084例单胎妊娠接受了核型分析和/或CMA。敏感性,特异性，阳性预测值(PPV)，评估NIPS对胎儿SCAs的阴性预测值（NPV）。
■灵敏度为97.7%（95CI，87.7-99.9），87.3%（95%CI，76.5-94.4），96.1%（95CI，86.5-99.5），和95.7%（95%CI，78.1-99.9），PPV为25.8%(95CI，19.2-33.2)，80.9%（95CI，69.5-89.4），79.0%（95CI，66.8-88.3），和53.7%（95CI，37.4-69.3），45，X，47,XXY,47,XXX,和47，XYY，分别。45，X的特异性为94.1%(95CI，93.0-95.1)，性染色体三体性(SCT)占99.0%以上。NPV均超过99.0%。
■NIPS筛查胎儿SCA具有很高的敏感性，特异性和净现值。SCA的PPV适中，但45，X低于SCT。建议对高危患者进行有创产前诊断。
