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Momguard的性能，一种在韩国开发的新型非侵入性产前检测方案。

Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea.

作者信息

Lee Mi-Young, Cho Dae-Yeon, Won Hye-Sung, Hwang Ah Reum, Jeong Bada, Kim Jihun, Oh Mijin

机构信息

Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.

LabGenomics Clinical Research Institute, LabGenomics, Seongnam, Korea.

出版信息

Obstet Gynecol Sci. 2015 Sep;58(5):340-5. doi: 10.5468/ogs.2015.58.5.340. Epub 2015 Sep 22.

DOI:10.5468/ogs.2015.58.5.340
PMID:26430657
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4588837/
Abstract

OBJECTIVE

To evaluate the performance of Momguard, non-invasive prenatal test (NIPT) for detecting trisomy (T) 21, T18, T13, and sex-chromosome abnormalities recently developed in Korea.

METHODS

This preliminary study formed part of a large prospective cohort study conducted at Asan Medical Center, Seoul, Korea. Only pregnant women who underwent both NIPT and confirmatory karyotyping were included in this study. NIPT results were compared with those of karyotype analyses.

RESULTS

Among 93 eligible cases, NIPT results could not be obtained in one case due to a low fetal cell-free DNA fraction. Based on NIPT, eight cases of fetal aneuploidies, including T21 (n=5), T18 (n=2), and T13 (n=1), were identified. For T21 and T18, the sensitivity and specificity of NIPT were both 100%, with a false-positive and false-negative rate of 0% and a positive-predictive value of 100%. One patient classified as having intermediate risk for T13 by NIPT was confirmed to have T13 by karyotyping, and there were no false-negative cases. No cases of sex-chromosome anomalies were detected by NIPT or karyotyping during the study period.

CONCLUSION

Momguard is a reliable screening tool for detecting T21 and T18. For T13 and sex-chromosome anomalies, further prospective studies are necessary to confirm its utility.

摘要

目的

评估韩国最近开发的无创产前检测（NIPT）产品Momguard检测21三体（T21）、18三体（T18）、13三体（T13）和性染色体异常的性能。

方法

这项初步研究是在韩国首尔峨山医学中心进行的一项大型前瞻性队列研究的一部分。本研究仅纳入了同时接受NIPT和确诊性染色体核型分析的孕妇。将NIPT结果与核型分析结果进行比较。

结果

在93例符合条件的病例中，有1例因胎儿游离DNA含量低而未能获得NIPT结果。基于NIPT，共鉴定出8例胎儿非整倍体病例，包括T21（n = 5）、T18（n = 2）和T13（n = 1）。对于T21和T18，NIPT的敏感性和特异性均为100%，假阳性率和假阴性率均为0%，阳性预测值为100%。1例NIPT分类为T13中度风险的患者经核型分析确诊为T13，无假阴性病例。在研究期间，NIPT或核型分析均未检测到性染色体异常病例。

结论

Momguard是检测T21和T18的可靠筛查工具。对于T13和性染色体异常，需要进一步的前瞻性研究来证实其效用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b29f/4588837/385e35fba16a/ogs-58-340-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b29f/4588837/941044dfa17c/ogs-58-340-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b29f/4588837/385e35fba16a/ogs-58-340-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b29f/4588837/941044dfa17c/ogs-58-340-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b29f/4588837/385e35fba16a/ogs-58-340-g002.jpg

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Noninvasive prenatal screening by next-generation sequencing.通过下一代测序进行无创产前筛查。
Annu Rev Genomics Hum Genet. 2014;15:327-47. doi: 10.1146/annurev-genom-090413-025341. Epub 2014 May 14.
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Non-invasive prenatal diagnosis: progress and potential.非侵入性产前诊断：进展与潜力
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Non-invasive Prenatal Testing: Technologies, Clinical Assays and Implementation Strategies for Women's Healthcare Practitioners.无创产前检测：面向女性医疗从业者的技术、临床检测方法及实施策略
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