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通过无创产前检测对新发20号染色体短臂三体进行产前诊断。

Prenatal diagnosis of a de novo trisomy 20p detected by noninvasive prenatal testing.

作者信息

Yan Xu, Peng Haiying, Zhang Changjun

机构信息

Reproductive Medicine Center Renmin Hospital Hubei University of Medicine Shiyan China.

Biomedical Engineering College Hubei University of Medicine Shiyan China.

出版信息

Clin Case Rep. 2021 Mar 11;9(4):1845-1848. doi: 10.1002/ccr3.3587. eCollection 2021 Apr.

DOI:10.1002/ccr3.3587
PMID:33936600
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8077397/
Abstract

Prenatal diagnosis of trisomy 20p seems to be difficult, considering the capacity of ultrasound to detect mild dysmorphic. NIPT has good performance in detecting fetal trisomy 20p combined with low coverage WGS and karyotype analysis.

摘要

考虑到超声检测轻度畸形的能力，20号染色体短臂三体的产前诊断似乎很困难。无创产前检测（NIPT）结合低覆盖全基因组测序（WGS）和核型分析，在检测胎儿20号染色体短臂三体方面具有良好的性能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/00cb/8077397/16b2acaf39bb/CCR3-9-1845-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/00cb/8077397/16b2acaf39bb/CCR3-9-1845-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/00cb/8077397/16b2acaf39bb/CCR3-9-1845-g002.jpg

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本文引用的文献

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A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing.无创产前检测后18号染色体短臂缺失综合征的一例产前诊断
Mol Cytogenet. 2019 Dec 21;12:53. doi: 10.1186/s13039-019-0464-y. eCollection 2019.
2
Pure Trisomy 20p: Report of a Novel Case of a Marker Chromosome and Literature Review.纯20号染色体短臂三体：一例标记染色体新病例报告及文献综述
Ann Lab Med. 2020 May;40(3):277-280. doi: 10.3343/alm.2020.40.3.277.
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Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.
低深度全基因组测序与染色体微阵列分析：在产前诊断中的应用。
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Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities.亚染色体异常无创产前检测的临床应用有限
Am J Hum Genet. 2016 Jan 7;98(1):34-44. doi: 10.1016/j.ajhg.2015.11.016. Epub 2015 Dec 17.
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Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA.通过对孕妇血浆DNA进行半导体测序无创检测胎儿亚染色体异常
Proc Natl Acad Sci U S A. 2015 Nov 24;112(47):14670-5. doi: 10.1073/pnas.1518151112. Epub 2015 Nov 9.
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Detection of fetal copy number variants by non-invasive prenatal testing for common aneuploidies.通过常见非整倍体的无创产前检测来检测胎儿拷贝数变异
Ultrasound Obstet Gynecol. 2016 Jan;47(1):53-7. doi: 10.1002/uog.14911.
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The genetics of microdeletion and microduplication syndromes: an update.微缺失和微重复综合征的遗传学：最新进展
Annu Rev Genomics Hum Genet. 2014;15:215-244. doi: 10.1146/annurev-genom-091212-153408. Epub 2014 Apr 16.
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Non-invasive prenatal testing using massively parallel sequencing of maternal plasma DNA: from molecular karyotyping to fetal whole-genome sequencing.利用母体血浆 DNA 的大规模平行测序进行无创性产前检测：从分子核型分析到胎儿全基因组测序。
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