对具有不同临床特征的 20626 例连续妊娠进行无创性产前检测的准确性和可行性。
The accuracy and feasibility of noninvasive prenatal testing in a consecutive series of 20,626 pregnancies with different clinical characteristics.
机构信息
Department of Obstetrics and Gynecology, XiJing Hospital of Air Force Medical University, Xi'an, China.
出版信息
J Clin Lab Anal. 2022 Oct;36(10):e24660. doi: 10.1002/jcla.24660. Epub 2022 Sep 13.
BACKGROUND
To evaluate the accuracy and feasibility of noninvasive prenatal testing (NIPT) according to the results of NIPT and pregnancy outcomes with different indications.
METHODS
Between October 2014 and December 2020, 20,626 pregnant women who received NIPT were included in this study. The positive predictive value (PPV) of trisomy 21, 18, and 13 (T21, T18, T13), sex chromosome abnormalities (SCAs), other chromosomal aneuploidies, and chromosomal microdeletion/microduplication were calculated. The positive results of NIPT were confirmed by amniocentesis, Karyotype analysis, and chromosome microarray analysis (CMA).
RESULTS
In total, 263 positive cases (263/20,626, 1.28%) were detected by NIPT, of which T21, T18, and T13 were 69, 26, and 9 cases, respectively. Sex chromosome abnormalities (SCAs), other chromosomal aneuploidies, and copy number variants (CNVs) were 69, 12, and 38 cases, respectively. There were true positive in 49 of T21, 13 of T18, 1 of T13, 32 of SCAs, 1 of other chromosomal aneuploidies, and 15 of CNVs. The NIPT sensitivity of T21, T18, T13, SCAs, other chromosomal aneuploidies, and CNVs was all 100%, the specialty was 99.90%, 99.94%, 99.96%, 99.82%, 99.95%, 99.89%, and the PPV was 71.01%, 50.00%, 11.11%, 46.38%, 8.33%, 39.47%, respectively. The PPV was high in T21, moderate in T18 and SCAs, and low in T13 and other chromosomal abnormalities.
CONCLUSION
NIPT has high accuracy, specificity and and can effectively avoid the occurrence of birth defects, but it cannot replace prenatal diagnosis. The accuracy, specificity, and sensitivity of NIPT in detecting sex chromosomes, chromosome microdeletion/microduplication, and other chromosomal abnormalities should be improved.
背景
评估根据不同适应证的无创产前检测（NIPT）结果和妊娠结局的准确性和可行性。
方法
本研究纳入了 2014 年 10 月至 2020 年 12 月期间接受 NIPT 的 20626 名孕妇。计算了三体 21、18 和 13（T21、T18、T13）、性染色体异常（SCAs）、其他染色体非整倍体、染色体微缺失/微重复的阳性预测值（PPV）。NIPT 的阳性结果通过羊膜穿刺术、核型分析和染色体微阵列分析（CMA）确认。
结果
共检出 263 例 NIPT 阳性病例（263/20626，1.28%），其中 T21、T18 和 T13 分别为 69、26 和 9 例。性染色体异常（SCAs）、其他染色体非整倍体和拷贝数变异（CNVs）分别为 69、12 和 38 例。T21 中有 49 例、T18 中有 13 例、T13 中有 1 例、SCAs 中有 32 例、其他染色体非整倍体中有 1 例、CNVs 中有 15 例为真阳性。T21、T18、T13、SCAs、其他染色体非整倍体和 CNVs 的 NIPT 灵敏度均为 100%，特异性为 99.90%、99.94%、99.96%、99.82%、99.95%、99.89%，PPV 分别为 71.01%、50.00%、11.11%、46.38%、8.33%、39.47%。T21 的 PPV 较高，T18 和 SCAs 的 PPV 为中等，T13 和其他染色体异常的 PPV 较低。
结论
NIPT 具有较高的准确性、特异性和有效性，可以有效避免出生缺陷的发生，但不能替代产前诊断。NIPT 检测性染色体、染色体微缺失/微重复和其他染色体异常的准确性、特异性和灵敏度有待提高。
Zotero 插件