Application value of NIPT for uncommon fetal chromosomal abnormalities

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Abstract

Objective

To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.

Methods

The study included 6239 pregnant women with singletons in the first and second trimester of pregnancy who received NIPT from December 2017 to June 2019. For pregnant women at high risk of deletion, duplication, and sex chromosome abnormalities indicated by NIPT, amniocentesis was recommended for karyotype analysis and chromosome copy number variation detection to verify the NIPT results and analyze chromosome abnormalities. Women at low risk and with no other abnormal results continued with their pregnancies.

Results

Among the 6239 pregnant women who received NIPT, there were 15 cases of chromosomal deletion (12 cases confirmed by amniocentesis), 16 cases of chromosomal duplication (9 cases confirmed by amniocentesis), and 17 cases of sex chromosome abnormalities (11 cases confirmed by amniocentesis). Of these cases, 32 were finally confirmed by amniotic fluid cell karyotype analysis. The coincidence rate was 66.7% (32/48). There were no abnormalities found for the remaining low risk pregnant women during follow-up.

Conclusion

NIPT has good application value in predicting fetal chromosomal deletion, duplication, and sex chromosome abnormalities. It can improve the detection rate of fetal chromosomal abnormalities, but further prenatal diagnosis is needed.

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Most cited references 16

Record: found
Abstract: found
Article: not found

Global variation in copy number in the human genome.

Richard Redon, Shumpei Ishikawa, Karen R Fitch … (2006)

Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two complementary technologies: single-nucleotide polymorphism (SNP) genotyping arrays, and clone-based comparative genomic hybridization. A total of 1,447 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering 360 megabases (12% of the genome) were identified in these populations. These CNVRs contained hundreds of genes, disease loci, functional elements and segmental duplications. Notably, the CNVRs encompassed more nucleotide content per genome than SNPs, underscoring the importance of CNV in genetic diversity and evolution. The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies.

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Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA.

Richard Porreco, Thomas J Garite, Kimberly Maurel … (2014)

The objective of this study was to validate the clinical performance of massively parallel genomic sequencing of cell-free deoxyribonucleic acid contained in specimens from pregnant women at high risk for fetal aneuploidy to test fetuses for trisomies 21, 18, and 13; fetal sex; and the common sex chromosome aneuploidies (45, X; 47, XXX; 47, XXY; 47, XYY).

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Angelman syndrome, a genomic imprinting disorder of the brain.

Stormy Chamberlain, Marc Lalande (2010)

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Author and article information

Contributors

Yinghua Tang:

ORCID: http://orcid.org/0000-0002-5655-9650

271101521@qq.com

Journal

Journal ID (nlm-ta): Mol Cytogenet

Journal ID (iso-abbrev): Mol Cytogenet

Title: Molecular Cytogenetics

Publisher: BioMed Central (London )

ISSN (Electronic): 1755-8166

Publication date (Electronic): 28 August 2020

Publication date PMC-release: 28 August 2020

Publication date Collection: 2020

Volume: 13

Electronic Location Identifier: 39

Affiliations

[1 ]GRID grid.452877.b, Department of Clinical Laboratory, Nanning Second People’s Hospital, , The Third Affiliated Hospital of Guangxi Medical University, ; Nanning, 530031 Guangxi China

[2 ]GRID grid.412594.f, Department of Clinical Laboratory, Guangxi Hospital of Traditional Chinese Medicine, , The First Affiliated Hospital of Guangxi University of Chinese Medicine, ; No. 89-9 Dongge Road, Nanning, 530023 Guangxi China

[3 ]GRID grid.452877.b, Department of Genetic Counseling, Nanning Second People’s Hospital, , The Third Affiliated Hospital of Guangxi Medical University, ; Nanning, 530031 Guangxi China

Author information

Yinghua Tang http://orcid.org/0000-0002-5655-9650

Article

Publisher ID: 508

DOI: 10.1186/s13039-020-00508-z

PMC ID: 7456042

PubMed ID: 32874204

SO-VID: 00cbdb27-28aa-4fd6-b741-2cf61f4e2594

License:

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

History

Date received : 27 May 2020

Date accepted : 12 August 2020

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ScienceOpen disciplines: Genetics

Keywords: noninvasive prenatal testing,birth defects,chromosomal abnormalities

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ScienceOpen disciplines: Genetics

Keywords: noninvasive prenatal testing, birth defects, chromosomal abnormalities

Application value of NIPT for uncommon fetal chromosomal abnormalities

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Abstract

Objective

Methods

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Conclusion

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Pediatric Pulse: Advancing Neonatal and Child Health

Most cited references 16

Global variation in copy number in the human genome.

Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA.

Angelman syndrome, a genomic imprinting disorder of the brain.

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