基于游离细胞 DNA 测序的无创性产前检测的性能：36456 例单胎和多胎妊娠的经验。
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies.
机构信息
Department of Woman, Child and General and Specialized Surgery, Obstetrics and Gynecology Unit, University of Campania "Luigi Vanvitelli", Naples, Italy.
AMES, Centro Polidiagnostico Strumentale, Srl, Naples, Italy.
出版信息
BMC Med Genomics. 2021 Mar 30;14(1):93. doi: 10.1186/s12920-021-00941-y.
BACKGROUND
This paper describes the clinical practice and performance of cell-free DNA sequencing-based non-invasive prenatal testing (NIPT) as a screening method for fetal trisomy 21, 18, and 13 (T21, T18, and T13) and sex chromosome aneuploidies (SCA) in a general Italian pregnancy population.
METHODS
The AMES-accredited laboratory offers NIPT in maternal blood as a screening test for fetal T21, T18, T13 and SCA. Samples were sequenced on a NextSeq 550 (Illumina) using the VeriSeq NIPT Solution v1 assay.
RESULTS
A retrospective analysis was performed on 36,456 consecutive maternal blood samples, including 35,650 singleton pregnancies, 800 twin pregnancies, and 6 triplet pregnancies. Samples were tested between April 2017 and September 2019. The cohort included 46% elevated-risk and 54% low-risk patients. A result indicative of a classic trisomy was found in 356 (1%) of singleton or twin samples: 254 T21, 69 T18, and 33 T13. In addition, 145 results (0.4%) were indicative of a SCA. Of the combined 501 screen-positive cases, 484 had confirmatory diagnostic testing. NIPT results were confirmed in 99.2% (247/249) of T21 cases, 91.2% (62/68) of T18 cases, 84.4% (27/32) of T13 cases, and 86.7% (117/135) of SCA cases. In the 35,955 cases reported as unaffected by a classic trisomy or SCA, no false negative cases were reported. Assuming that false negative results would be reported, the sensitivity of NIPT was 100.00% for T21 (95% Cl 98.47-100.0), T18 (95% Cl 94.17-100.0), and T13 (95% Cl 87.54-100.0). The specificities were 99.99% (95% Cl 99.98-100.0), 99.98% (95% Cl 99.96-100.0), 99.99% (95% Cl 99.97-100.0), and 99.95% (95% Cl 99.92-99.97) for T21, T18, T13, and SCA, respectively.
CONCLUSION
This retrospective analysis of a large cohort of consecutive patients who had whole-genome sequencing-based NIPT for classic trisomies and SCA shows excellent detection rates and low false positive rates.
背景
本文描述了游离 DNA 测序为基础的非侵入性产前检测（NIPT）在意大利一般妊娠人群中用于筛查 21 三体、18 三体和 13 三体（T21、T18 和 T13）及性染色体非整倍体（SCA）的临床实践和表现。
方法
经 AMES 认证的实验室提供游离 DNA 测序的 NIPT 作为胎儿 T21、T18、T13 和 SCA 的筛查试验。样本在 NextSeq 550（Illumina）上使用 VeriSeq NIPT Solution v1 试剂盒进行测序。
结果
对 36456 例连续的母体外周血样本进行了回顾性分析，包括 35650 例单胎妊娠、800 例双胎妊娠和 6 例三胎妊娠。样本于 2017 年 4 月至 2019 年 9 月间进行检测。该队列包括 46%的高风险和 54%的低风险患者。在 356 例（1%）的单胎或双胎样本中发现了经典三体的指示性结果：254 例 T21、69 例 T18 和 33 例 T13。此外，145 例（0.4%）结果提示 SCA。在总共 501 例筛查阳性病例中，484 例进行了确认性诊断检测。NIPT 结果在 99.2%（247/249）的 T21 病例、91.2%（62/68）的 T18 病例、84.4%（27/32）的 T13 病例和 86.7%（117/135）的 SCA 病例中得到了确认。在报告为未受经典三体或 SCA 影响的 35955 例中，未报告假阴性病例。假设假阴性结果将被报告，NIPT 的灵敏度为 T21 为 100.00%（95%Cl 98.47-100.0）、T18 为 100.00%（95%Cl 94.17-100.0）和 T13 为 100.00%（95%Cl 87.54-100.0）。特异性分别为 99.99%（95%Cl 99.98-100.0）、99.98%（95%Cl 99.96-100.0）、99.99%（95%Cl 99.97-100.0）和 99.95%（95%Cl 99.92-99.97），用于 T21、T18、T13 和 SCA。
结论
本研究对接受全基因组测序 NIPT 以筛查经典三体和 SCA 的大量连续患者进行了回顾性分析，结果显示其具有出色的检测率和较低的假阳性率。
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