Increased Y-chromosome detection by SRY duplexing

Morten Høgh Hansen; Frederik Banch Clausen; Morten Hanefeld Dziegiel

doi:10.1159/000335350

Increased Y-chromosome detection by SRY duplexing

Morten Høgh Hansen, Frederik Banch Clausen, Morten Hanefeld Dziegiel

1 Citationer (Scopus)

Abstract

Objective: Determining fetal sex noninvasively is dependent of a robust assay. We designed a novel SRY assay and combined it with a SRY assay from literature forming a duplex assay with the same fluorescent dye to increase detection of Y-chromosome at low cell-free fetal DNA or chimeric DNA concentrations. Methods: We analyzed 48 plasma samples from pregnant women in gestational weeks 5-35. Fetal sex was determined by DYS14 and SRY. We also compared 2 monoplex SRY assays with a SRY duplex assay at low DNA concentrations. Results: The DYS14 assay was more sensitive than the SRY assay, but less specific at low cell-free fetal DNA concentrations. We obtained a more sensitive duplex SRY assay with the same specificity as the 2 monoplex assays. Conclusion: The SRY duplex assay improves the SRY detection at low DNA concentration.

Originalsprog	Engelsk
Tidsskrift	Fetal Diagnosis and Therapy
Vol/bind	31
Udgave nummer	3
Sider (fra-til)	185-90
Antal sider	6
DOI	https://doi.org/10.1159/000335350
Status	Udgivet - apr. 2012

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10.1159/000335350

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@article{29df9226f7a34221b3c5051150713657,

title = "Increased Y-chromosome detection by SRY duplexing",

abstract = "Objective: Determining fetal sex noninvasively is dependent of a robust assay. We designed a novel SRY assay and combined it with a SRY assay from literature forming a duplex assay with the same fluorescent dye to increase detection of Y-chromosome at low cell-free fetal DNA or chimeric DNA concentrations. Methods: We analyzed 48 plasma samples from pregnant women in gestational weeks 5-35. Fetal sex was determined by DYS14 and SRY. We also compared 2 monoplex SRY assays with a SRY duplex assay at low DNA concentrations. Results: The DYS14 assay was more sensitive than the SRY assay, but less specific at low cell-free fetal DNA concentrations. We obtained a more sensitive duplex SRY assay with the same specificity as the 2 monoplex assays. Conclusion: The SRY duplex assay improves the SRY detection at low DNA concentration.",

keywords = "Chromosomes, Human, Y, DNA, Denmark, Female, Fluorescent Dyes, Genes, sry, Gestational Age, Humans, Male, Nucleic Acid Probes, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, Real-Time Polymerase Chain Reaction, Sensitivity and Specificity, Sex Determination Analysis",

author = "Hansen, {Morten H{\o}gh} and Clausen, {Frederik Banch} and Dziegiel, {Morten Hanefeld}",

note = "Copyright {\textcopyright} 2012 S. Karger AG, Basel.",

year = "2012",

month = apr,

doi = "10.1159/000335350",

language = "English",

volume = "31",

pages = "185--90",

journal = "Fetal Diagnosis and Therapy",

issn = "1015-3837",

publisher = "S Karger AG",

number = "3",

}

TY - JOUR

T1 - Increased Y-chromosome detection by SRY duplexing

AU - Hansen, Morten Høgh

AU - Clausen, Frederik Banch

AU - Dziegiel, Morten Hanefeld

PY - 2012/4

Y1 - 2012/4

N2 - Objective: Determining fetal sex noninvasively is dependent of a robust assay. We designed a novel SRY assay and combined it with a SRY assay from literature forming a duplex assay with the same fluorescent dye to increase detection of Y-chromosome at low cell-free fetal DNA or chimeric DNA concentrations. Methods: We analyzed 48 plasma samples from pregnant women in gestational weeks 5-35. Fetal sex was determined by DYS14 and SRY. We also compared 2 monoplex SRY assays with a SRY duplex assay at low DNA concentrations. Results: The DYS14 assay was more sensitive than the SRY assay, but less specific at low cell-free fetal DNA concentrations. We obtained a more sensitive duplex SRY assay with the same specificity as the 2 monoplex assays. Conclusion: The SRY duplex assay improves the SRY detection at low DNA concentration.

AB - Objective: Determining fetal sex noninvasively is dependent of a robust assay. We designed a novel SRY assay and combined it with a SRY assay from literature forming a duplex assay with the same fluorescent dye to increase detection of Y-chromosome at low cell-free fetal DNA or chimeric DNA concentrations. Methods: We analyzed 48 plasma samples from pregnant women in gestational weeks 5-35. Fetal sex was determined by DYS14 and SRY. We also compared 2 monoplex SRY assays with a SRY duplex assay at low DNA concentrations. Results: The DYS14 assay was more sensitive than the SRY assay, but less specific at low cell-free fetal DNA concentrations. We obtained a more sensitive duplex SRY assay with the same specificity as the 2 monoplex assays. Conclusion: The SRY duplex assay improves the SRY detection at low DNA concentration.

KW - Chromosomes, Human, Y

KW - DNA

KW - Denmark

KW - Female

KW - Fluorescent Dyes

KW - Genes, sry

KW - Gestational Age

KW - Humans

KW - Male

KW - Nucleic Acid Probes

KW - Predictive Value of Tests

KW - Pregnancy

KW - Prenatal Diagnosis

KW - Real-Time Polymerase Chain Reaction

KW - Sensitivity and Specificity

KW - Sex Determination Analysis

U2 - 10.1159/000335350

DO - 10.1159/000335350

M3 - Journal article

C2 - 22415007

SN - 1015-3837

VL - 31

SP - 185

EP - 190

JO - Fetal Diagnosis and Therapy

JF - Fetal Diagnosis and Therapy

IS - 3

ER -

Increased Y-chromosome detection by SRY duplexing

Abstract

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