Detection of 22q11.2 microduplication by cell‐free <scp>DNA</scp> screening and chromosomal microarray in fetus with multiple anomalies

Wu, Wan‐Ju; Ma, Gwo‐Chin; Lin, Yu-Hsiang; Yeang, Chen‐Hsiang; Ni, Yen‐Hsuan; Li, Wen‐Chu; Tsai, Horng‐Der; Gau, Susan Shur‐Fen; Chen, Ming

doi:10.1002/uog.15965

Cited by 3 publications

(2 citation statements)

References 7 publications

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“…Recently, by advances in knowledge about CFCs and in technology at single-cell genetic analyses, cell-based NIPD (cbNIPD) have again been in focus [ 3 ]. In contrast to the popular noninvasive prenatal testing (NIPT) based on cell-free fetal DNA (cffDNA) [ 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 ], which mainly reflects the genetic complement of placental trophoblasts and cannot recognize the condition of fetoplacental mosaicism (a situation where there is a discrepancy between the genomic makeup of the fetus and placenta) [ 14 , 15 ], cell-based technology had been reported to be able to capture not only trophoblasts but also fetal nucleated red blood cells (fnRBC, which can truly reflect the fetal genome). Nevertheless, most previous reports regarding cbNIPD focused on capturing trophoblasts from placenta that prohibited a definite diagnosis of fetuses and thus were not superior to cffDNA testing [ 16 , 17 , 18 ].…”

Section: Introductionmentioning

confidence: 99%

A Silicon-based Coral-like Nanostructured Microfluidics to Isolate Rare Cells in Human Circulation: Validation by SK-BR-3 Cancer Cell Line and Its Utility in Circulating Fetal Nucleated Red Blood Cells

Lin

Huang

et al. 2019

Micromachines

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Circulating fetal cells (CFCs) in maternal blood are rare but have a strong potential to be the target for noninvasive prenatal diagnosis (NIPD). “Cell RevealTM system” is a silicon-based microfluidic platform capable to capture rare cell populations in human circulation. The platform is recently optimized to enhance the capture efficiency and system automation. In this study, spiking tests of SK-BR-3 breast cancer cells were used for the evaluation of capture efficiency. Then, peripheral bloods from 14 pregnant women whose fetuses have evidenced non-maternal genomic markers (e.g., de novo pathogenic copy number changes) were tested for the capture of circulating fetal nucleated red blood cells (fnRBCs). Captured cells were subjected to fluorescent in situ hybridization (FISH) on chip or recovered by an automated cell picker for molecular genetic analyses. The capture rate for the spiking tests is estimated as 88.1%. For the prenatal study, 2–71 fnRBCs were successfully captured from 2 mL of maternal blood in all pregnant women. The captured fnRBCs were verified to be from fetal origin. Our results demonstrated that the Cell RevealTM system has a high capture efficiency and can be used for fnRBC capture that is feasible for the genetic diagnosis of fetuses without invasive procedures.

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Section: Introductionmentioning

confidence: 99%

A Silicon-based Coral-like Nanostructured Microfluidics to Isolate Rare Cells in Human Circulation: Validation by SK-BR-3 Cancer Cell Line and Its Utility in Circulating Fetal Nucleated Red Blood Cells

Lin

Huang

et al. 2019

Micromachines

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“…Since 2014, we have developed our in-house patent protected algorithms for cfDNA NIPT (called GWNS™) and the resolution, in some cases, can be even enhanced to a 3.21 Mb microduplication by simply using 20 M reads shallow-sequencing with 12.5% of fetal DNA fraction [ 14 – 16 ]. However, we also noticed the problem of fetoplacental mosaicism [ 12 , 15 , 17 ] and thus re-focused back our effort to cbNIPD since 2015.…”

Section: Introductionmentioning

confidence: 99%

Noninvasive prenatal diagnosis of fetal aneuploidy by circulating fetal nucleated red blood cells and extravillous trophoblasts using silicon-based nanostructured microfluidics

Huang

Jou

et al. 2017

Mol Cytogenet

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BackgroundNoninvasive prenatal testing (NIPT) based on cell-free DNA in maternal circulation has been accepted worldwide by the clinical community since 2011 but limitations, such as maternal malignancy and fetoplacental mosaicism, preclude its full replacement of invasive prenatal diagnosis. We present a novel silicon-based nanostructured microfluidics platform named as “Cell Reveal™” to demonstrate the feasibility of capturing circulating fetal nucleated red blood cells (fnRBC) and extravillous cytotrophoblasts (EVT) for cell-based noninvasive prenatal diagnosis (cbNIPD).MethodsThe “Cell Reveal™” system is a silicon-based, nanostructured microfluidics using immunoaffinity to capture the trophoblasts and the nucleated RBC (nRBC) with specific antibodies. The automated computer analysis software was used to identify the targeted cells through additional immunostaining of the corresponding antigens. The identified cells were retrieved for whole genome amplification for subsequent investigations by micromanipulation in one microchip, and left in situ for subsequent fluorescence in situ hybridization (FISH) in another microchip. When validation, bloods from pregnant women (n = 24) at gestational age 11–13+6 weeks were enrolled. When verification, bloods from pregnant women (n = 5) receiving chorionic villus sampling or amniocentesis at gestation age 11+4–21 weeks with an aneuploid or euploid fetus were enrolled, followed by genetic analyses using FISH, short tandem repeat (STR) analyses, array comparative genomic hybridization, and next generation sequencing, in which the laboratory is blind to the fetal genetic complement.ResultsThe numbers of captured targeted cells were 1–44 nRBC/2 ml and 1–32 EVT/2 ml in the validation group. The genetic investigations performed in the verification group confirmed the captured cells to be fetal origin. In every 8 ml of the maternal blood being blindly tested, both fnRBC and EVT were always captured. The numbers of captured fetal cells were 14–22 fnRBC/4 ml and 1–44 EVT/4 ml of maternal blood.ConclusionsThis report is one of the first few to verify the capture of fnRBC in addition to EVT. The scalability of our automated system made us one step closer toward the goal of in vitro diagnostics.Electronic supplementary materialThe online version of this article (10.1186/s13039-017-0343-3) contains supplementary material, which is available to authorized users.

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Circulating mRNA in Maternal Plasma at the Second Trimester of Pregnancy: A Possible Screening Tool for Cardiac Conotruncal and Left Ventricular Outflow Tract Abnormalities

Contro

Stefani²,

Berto³

et al. 2017

Mol Diagn Ther

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Detection of 22q11.2 microduplication by cell‐free DNA screening and chromosomal microarray in fetus with multiple anomalies

Cited by 3 publications

References 7 publications

A Silicon-based Coral-like Nanostructured Microfluidics to Isolate Rare Cells in Human Circulation: Validation by SK-BR-3 Cancer Cell Line and Its Utility in Circulating Fetal Nucleated Red Blood Cells

A Silicon-based Coral-like Nanostructured Microfluidics to Isolate Rare Cells in Human Circulation: Validation by SK-BR-3 Cancer Cell Line and Its Utility in Circulating Fetal Nucleated Red Blood Cells

Noninvasive prenatal diagnosis of fetal aneuploidy by circulating fetal nucleated red blood cells and extravillous trophoblasts using silicon-based nanostructured microfluidics

Circulating mRNA in Maternal Plasma at the Second Trimester of Pregnancy: A Possible Screening Tool for Cardiac Conotruncal and Left Ventricular Outflow Tract Abnormalities

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