[Expert consensus on the application of digital PCR non-invasive prenatal screening technology for the preliminary implementation of fetal chromosomal disease screening].

Clinical application of serological screening and non-invasive prenatal testing (NIPT) both have difficulties to attain high detection rate and low cost. For its advantages of high detection rate, high sensitivity, simplicity, short turnaround time and low cost, digital PCR (dPCR) has provided a new choice for prenatal screening of trisomies 21, 18 and 13. To standardize the application of dPCR for prenatal screening, we have formulated this consensus by referring to relevant guidelines, expert consensus and latest literature, which has covered the basic requirements, application scope, pre-testing service, testing procedure, report interpretation, genetic counseling, and limitations for this technology.

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Publication Details

Journal
PubMed
Published
2024-10-10
DOI
https://doi.org/10.3760/cma.j.cn511374-20240318-00176
Primary Topic
Prenatal Screening and Diagnostics
Type
article
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article

[Expert consensus on the application of digital PCR non-invasive prenatal screening technology for the preliminary implementation of fetal chromosomal disease screening].

Xiangdong Kong, Chen Chen, Ganye Zhao, Peng Dai et al.
PubMed
Prenatal Screening and Diagnostics
article

[Expert consensus on the application of digital PCR non-invasive prenatal screening technology for the preliminary implementation of fetal chromosomal disease screening].

Xiangdong Kong, Chen Chen, Ganye Zhao, Peng Dai, Ning Liu
article en

Abstract

Clinical application of serological screening and non-invasive prenatal testing (NIPT) both have difficulties to attain high detection rate and low cost. For its advantages of high detection rate, high sensitivity, simplicity, short turnaround time and low cost, digital PCR (dPCR) has provided a new choice for prenatal screening of trisomies 21, 18 and 13. To standardize the application of dPCR for prenatal screening, we have formulated this consensus by referring to relevant guidelines, expert consensus and latest literature, which has covered the basic requirements, application scope, pre-testing service, testing procedure, report interpretation, genetic counseling, and limitations for this technology.

PubMedVol. 41(10)
First Affiliated Hospital of Zhengzhou University (CN)
Prenatal Screening and Diagnostics
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