2019,
Genetics in Medicine.
DOI:
10.1038/s41436-019-0467-4
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
Desheng Liang
, David S. Cram
, Hu Tan
, Siyuan Linpeng
, Yingdi Liu
, Huaiyu Sun
, Yu Zhang
, Feng Tian
, Hongmin Zhu
, Mengnan Xu
, Hua Wang
, Fuli Yu
, Lingqian Wu
Abstract:
Purpose: To assess the clinical performance of an expanded noninvasive prenatal screening (NIPS) test ("NIPS-Plus") for detection of both aneuploidy and genome-wide microdeletion/microduplication syndromes (MMS).
Methods: A total of 94,085 women with a singleton pregnancy were prospectively enrolled in the study. The cell-free plasma DNA was directly sequenced without intermediate amplification and fetal abnormalities identified using an improved copy-number variation (CNV) calling algorithm.
Results: A total of 1128 pregnancies (1.2%) were scored positive for clinically significant fetal chromosome abnormalities. This comprised 965 aneuploidies (1.026%) and 163 (0.174%) MMS. From follow-up tests, the positive predictive values (PPVs) for T21, T18, T13, rare trisomies, and sex chromosome aneuploidies were calculated as 95%, 82%, 46%, 29%, and 47%, respectively. For known MMS (n = 32), PPVs were 93% (DiGeorge), 68% (22q11.22 microduplication), 75% (Prader-Willi/Angleman), and 50% (Cri du Chat). For the remaining genome-wide MMS (n = 88), combined PPVs were 32% (CNVs ≥10 Mb) and 19% (CNVs <10 Mb).
Conclusion: NIPS-Plus yielded high PPVs for common aneuploidies and DiGeorge syndrome, and moderate PPVs for other MMS. Our results present compelling evidence that NIPS-Plus can be used as a first-tier pregnancy screening method to improve detection rates of clinically significant fetal chromosome abnormalities.
Methods: A total of 94,085 women with a singleton pregnancy were prospectively enrolled in the study. The cell-free plasma DNA was directly sequenced without intermediate amplification and fetal abnormalities identified using an improved copy-number variation (CNV) calling algorithm.
Results: A total of 1128 pregnancies (1.2%) were scored positive for clinically significant fetal chromosome abnormalities. This comprised 965 aneuploidies (1.026%) and 163 (0.174%) MMS. From follow-up tests, the positive predictive values (PPVs) for T21, T18, T13, rare trisomies, and sex chromosome aneuploidies were calculated as 95%, 82%, 46%, 29%, and 47%, respectively. For known MMS (n = 32), PPVs were 93% (DiGeorge), 68% (22q11.22 microduplication), 75% (Prader-Willi/Angleman), and 50% (Cri du Chat). For the remaining genome-wide MMS (n = 88), combined PPVs were 32% (CNVs ≥10 Mb) and 19% (CNVs <10 Mb).
Conclusion: NIPS-Plus yielded high PPVs for common aneuploidies and DiGeorge syndrome, and moderate PPVs for other MMS. Our results present compelling evidence that NIPS-Plus can be used as a first-tier pregnancy screening method to improve detection rates of clinically significant fetal chromosome abnormalities.
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2023-04-30 23:55:00
半面阳光:
#paper DOI: 10.1038/s41436-019-0467-4, Genet Med. 2019, Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes. 这篇文章研究了无创产前检测（NIPT）用于拷贝数变异检测的检测能力。这一研究征集了9万多名孕妇外周血样本，进行了拓展性NIPT检测。研究结果显示，拓展性NIPT在检测常见的染色体非整体时的检出效果更佳，对于拷贝数变异具有一定的检出能力。总体上看，拓展性NIPT对产前染色体异常检测的检出效果由于常规的NIPT。