Reappraisal of evolving methods in non-invasive prenatal screening: Discovery, biology and clinical utility

Rather, Riyaz Ahmad; Saha, Subhas Chandra

doi:10.1016/j.heliyon.2023.e13923

Cited by 7 publications

(2 citation statements)

References 108 publications

(121 reference statements)

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“…In prenatal testing, the analysis of fetal cfDNA in maternal blood has revolutionized the field, allowing non-invasive prenatal testing (NIPT) that can investigate chromosomal abnormalities and fetal aneuploidies as an alternative to more invasive methods such as karyotyping and FISH on fetal blood, chorionic villus sampling, or amniocentesis [37]. Non-invasive prenatal screening can be performed from 5-7 weeks [38], looking for pathological variations with a targeted or genome-wide approach.…”

Section: Prenatal Screeningmentioning

confidence: 99%

Technical Advances in Circulating Cell-Free DNA Detection and Analysis for More Personalized Medicine in Patients’ Care

Sorbini,

Carradori,

Togliatto

et al. 2024

Preprint

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Circulating cell-free DNA (cfDNA) refers to small fragments of DNA molecules released after programmed cell death and necrosis in several body fluids such as blood, saliva, urine, and cerebrospinal fluid. The discovery of cfDNA has revolutionized the field of non-invasive diagnostics in the oncologic field, in prenatal testing, and in organ transplantation. Despite the potential of cfDNA and the solid results published in recent literature, several challenges remain, represented by low abundance, need for highly sensitive assays and analytical issues. In this review, the main technical advances in cfDNA analysis are presented and discussed, with a comprehensive examination of the current available methodologies applied in each field. Considering the potential advantages of cfDNA, this biomarker is increasing its consensus among clinicians, as it consents to monitor patients’ conditions in an easy and non-invasive way, offering a more personalized care. Nevertheless, cfDNA analysis is still considered a research marker to be further validated, and very few centers are implementing its analysis in the real-life assistance. As technical improvements are enhancing the performances of cfDNA analysis, its application will transversally improve patients’ quality of life.

show abstract

Section: Prenatal Screeningmentioning

confidence: 99%

Technical Advances in Circulating Cell-Free DNA Detection and Analysis for More Personalized Medicine in Patients’ Care

Sorbini,

Carradori,

Togliatto

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…In prenatal testing, the analysis of fetal cfDNA in maternal blood has revolutionized the field, allowing non-invasive prenatal testing (NIPT) that can investigate chromosomal abnormalities and fetal aneuploidies as an alternative to more invasive methods such as karyotyping and FISH on fetal blood, chorionic villus sampling, or amniocentesis [37]. Non-invasive prenatal screening can be performed from 5 to 7 weeks [38], looking for pathological variations with a targeted or genome-wide approach.…”

Section: Prenatal Screeningmentioning

confidence: 99%

Technical Advances in Circulating Cell-Free DNA Detection and Analysis for Personalized Medicine in Patients’ Care

Sorbini,

Carradori,

Togliatto

et al. 2024

Biomolecules

View full text Add to dashboard Cite

Circulating cell-free DNA (cfDNA) refers to small fragments of DNA molecules released after programmed cell death and necrosis in several body fluids such as blood, saliva, urine, and cerebrospinal fluid. The discovery of cfDNA has revolutionized the field of non-invasive diagnostics in the oncologic field, in prenatal testing, and in organ transplantation. Despite the potential of cfDNA and the solid results published in the recent literature, several challenges remain, represented by a low abundance, a need for highly sensitive assays, and analytical issues. In this review, the main technical advances in cfDNA analysis are presented and discussed, with a comprehensive examination of the current available methodologies applied in each field. Considering the potential advantages of cfDNA, this biomarker is increasing its consensus among clinicians, as it allows us to monitor patients’ conditions in an easy and non-invasive way, offering a more personalized care. Nevertheless, cfDNA analysis is still considered a diagnostic marker to be further validated, and very few centers are implementing its analysis in routine diagnostics. As technical improvements are enhancing the performances of cfDNA analysis, its application will transversally improve patients’ quality of life.

show abstract

Evolution of Noninvasive Prenatal Screening: Past to Present

Rather,

Saha

2024

Non-Invasive Prenatal Screening (NIPS) in Clinical Practice

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Reappraisal of evolving methods in non-invasive prenatal screening: Discovery, biology and clinical utility

Cited by 7 publications

References 108 publications

Technical Advances in Circulating Cell-Free DNA Detection and Analysis for More Personalized Medicine in Patients’ Care

Technical Advances in Circulating Cell-Free DNA Detection and Analysis for More Personalized Medicine in Patients’ Care

Technical Advances in Circulating Cell-Free DNA Detection and Analysis for Personalized Medicine in Patients’ Care

Evolution of Noninvasive Prenatal Screening: Past to Present

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