Refining Noninvasive Prenatal Diagnosis with Single-Molecule Next-Generation Sequencing

Avent, Neil D.

doi:10.1373/clinchem.2011.181388

Cited by 9 publications

(3 citation statements)

References 10 publications

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“…Recently, using the single molecule sequencing technology of Helicos (Cambridge, MA, USA) that does not require a prior DNA amplification step, van den Oever et al [43] have demonstrated a greater sensitivity of this platform above that of Illumina GAII (San Diego, CA, USA) used in previous studies. This may lead to utilization of NGS much earlier in NIPD, perhaps within the first trimester [44], as the study demonstrated detection of trisomy 21.…”

Section: Methods To Detect Fetal Aneuploidy By Non Invasive Prenatal mentioning

confidence: 99%

Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?

Avent

Webb

Madgett³

et al. 2012

Balkan Journal of Medical Genetics

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Current invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highlight the necessity of investing in non invasive prenatal diagnosis (NIPD) and how NIPD would improve patient safety and detection rate as well as allowing detection earlier in pregnancy.Non invasive prenatal diagnosis can take either a proteomics approach or nucleic acid-based approach; this review focuses on the latter. Since the discovery of cell free fetal DNA (cffDNA) and fetal RNA in maternal plasma, procedures have been developed for detection for monogenic traits and for some have become well established (e.g., RHD blood group status). However, NIPD of aneuploidies remains technically challenging. This review examines currently published literature evaluating techniques and approaches that have been suggested and developed for aneuploidy detection, highlighting their advantages and limitations and areas for further research.

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Section: Methods To Detect Fetal Aneuploidy By Non Invasive Prenatal mentioning

confidence: 99%

Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?

Avent

Webb

Madgett³

et al. 2012

Balkan Journal of Medical Genetics

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“…The answer to many of the aforementioned challenges can be single-molecule sequencing (SMS). − Examples of SMS platforms include Helicos, Genia, , Pacific Biosystems, , and Oxford Nanopore. − While single molecules are sequenced, unfortunately, in many cases amplification is still needed to accommodate the necessary input mass requirements; the MinIon requires an input mass of ∼1 μg of DNA.…”

Section: Future Outlookmentioning

confidence: 99%

Cell Separations and Sorting

2019

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The development of new methods and technologies for cell separation, sorting, selection, isolation, or enrichment (many times the aforementioned terms are used interchangeably) are becoming more imperative due in part to the wealth of research aimed at addressing issues for the analysis of liquid biopsy targets, such as rare cells, to realize the concept of "precision medicine". Precision medicine is defined as "treatments targeted to the needs of individual patients on the basis of genetic, biomarker, phenotypic, or psychosocial characteristics that distinguish a patient from others with similar clinical presentations." 1 Before full implementation of precision medicine in a hospital or clinical setting, technological discoveries must be realized to assist in the analysis of disease-associated cells enriched from complex samples.Liquid biopsy markers and the cargo that they carry have been shown to be an attractive source of information that can be used to facilitate precise decisions for disease management. These biomarkers include, but are not limited to, rare cells such as circulating tumor cells (CTCs) or cancer stem cells (CSCs), immune cells (i.e., CD8+ T-cells), bacterial and viral cells, cell-free molecules such as cell free DNA (cfDNA), and extracellular vesicles (EVs). Liquid biopsies are attractive because of the minimally invasive nature of the sampling method (i.e., collection of peripheral blood, urine, saliva) to secure relevant biomarkers. These biomarkers can enable precision medicine decisions on managing a variety of diseases, including oncology and nononcology-related diseases. 2,3 Liquid biopsies *

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“…However, one sample for chromosome 13 was classified as a “no call” [ 72 ]. Some speculation exists that the poor detection rate using NGS for trisomy 13 may be due in part to the lesser level of fragmentation of this larger chromosome [ 89 ].…”

Section: Further Developmentsmentioning

confidence: 99%

Non-Invasive Screening Tools for Down’s Syndrome: A Review

et al. 2013

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Down’s syndrome (DS) is the most common genetic cause of developmental delay with an incidence of 1 in 800 live births, and is the predominant reason why women choose to undergo invasive prenatal diagnosis. However, as invasive tests are associated with around a 1% risk of miscarriage new non-invasive tests have been long sought after. Recently, the most promising approach for non-invasive prenatal diagnosis (NIPD) has been provided by the introduction of next generation sequencing (NGS) technologies. The clinical application of NIPD for DS detection is not yet applicable, as large scale validation studies in low-risk pregnancies need to be completed. Currently, prenatal screening is still the first line test for the detection of fetal aneuploidy. Screening cannot diagnose DS, but developing a more advanced screening program can help to improve detection rates, and therefore reduce the number of women offered invasive tests. This article describes how the prenatal screening program has developed since the introduction of maternal age as the original “screening” test, and subsequently discusses recent advances in detecting new screening markers with reference to both proteomic and bioinformatic techniques.

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Refining Noninvasive Prenatal Diagnosis with Single-Molecule Next-Generation Sequencing

Cited by 9 publications

References 10 publications

Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?

Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?

Cell Separations and Sorting

Non-Invasive Screening Tools for Down’s Syndrome: A Review

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