Prenatal detection of thalassemia by cell-free fetal DNA (cffDNA) in maternal plasma using surface enhanced Raman spectroscopy combined with PCR

Li, Xiaozhou; Yang, Tianyue; Li, Caesar Siqi; Jin, Lili; Lou, Hong; Song, Youtao

doi:10.1364/boe.9.003167

Cited by 14 publications

(8 citation statements)

References 24 publications

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“…The cffDNA consists of a shorter sequence than maternal DNA. Therefore, an amplification and few steps are required for the identification and is proceeded with PCR and HRM analysis to detect mutation in the fetal DNA 40 .…”

Section: Gap-polymerase Chain Reaction (Gap-pcr)mentioning

confidence: 99%

Molecular Detection of alpha Thalassemia: A Review of Prevalent Techniques

Vijian¹,

Rahman²,

Kannan³

et al. 2021

MMJ

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Alpha thalassemia (α-thalassemia) is an autosomal recessive disorder due to the reduction or absence of α globin chain production. Laboratory diagnosis of α-thalassemia requires molecular analysis for the confirmatory diagnosis. A screening test, comprising complete blood count, blood smear and hemoglobin quantification by high performance liquid chromatography and capillary electrophoresis, may not possibly detect all the thalassemia diseases. This review focused on the molecular techniques used to detect α-thalassemia, and the advantages and disadvantages of each technique were highlighted. Multiplex gap-polymerase chain reaction, single-tube multiplex polymerase chain reaction, multiplex ligation-dependent probe amplification, and loop-mediated isothermal amplification were used to detect common deletion of α-thalassemia. Furthermore, the reverse dot blot analysis and a single tube multiplex polymerase chain reaction could detect non-deletion mutation of the α-globin gene. Sanger sequencing is widely used to detect non-deletion mutations of α-thalassemia. Recently, next-generation sequencing was introduced in the diagnosis of both deletion and point mutations of α-thalassemia. Despite the advantages and disadvantages of different techniques, the routine method employed in the laboratory should be based on the facility, expertise, available equipment, and economic conditions.

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Section: Gap-polymerase Chain Reaction (Gap-pcr)mentioning

confidence: 99%

Molecular Detection of alpha Thalassemia: A Review of Prevalent Techniques

Vijian¹,

Rahman²,

Kannan³

et al. 2021

MMJ

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“…Although fetal cffDNA is abundant and readily available in maternal plasma, prenatal screening based on cffDNA has been used to diagnose trisomy (13,18,21) and other genetic diseases (e.g., thalassemia). However, cffDNA-based diagnosis has some disadvantages: (1) due to cffDNA fragmentation, it is difficult to diagnose chromosomal mosaicism, duplication, deletion, and other abnormalities; (2) cffDNA-based diagnosis requires deep sequencing with high cost and low sensitivity [6][7][8]. Compared with the former, fetal cells contain complete cell structure and a full set of genomic information, and, with the progress of single-cell genomic detection technology, research results show that fetal cells have been able to analyze single-cell DNA accurately and specifically [9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Research Progress in Isolation and Enrichment of Fetal Cells from Maternal Blood

Tang

Luo

et al. 2022

Journal of Chemistry

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Prenatal diagnosis is an important means of early diagnosis of genetic diseases, which can effectively reduce the risk of birth defects. Free fetal cells, as a carrier of intact fetal genetic material, provide hope for the development of high-sensitivity and high-accuracy prenatal diagnosis technology. However, the number of fetal cells is small and it is difficult to apply clinically. In recent years, noninvasive prenatal diagnosis (NIPD) technology for fetal genetic material in maternal peripheral blood has developed rapidly, which makes it possible to diagnose genetic diseases by fetal cells in maternal peripheral blood. This article reviewed the current status of fetal cell separation and enrichment technology and its application in noninvasive prenatal diagnosis technology.

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“…Li et al, have applied this PCR-SERS method for multiplex detection of mutations associated with lung cancer, colorectal cancer and thalassemia respectively, substituting magnetic bead separation for PCR purification. 6,7,8 Furthermore, Wee et al, reported a PCR-SERS method for multiplex detection of melanoma associated mutations in circulating tumour DNA, omitting sperminemediated aggregation in favour of enrichment and SERS detection directly on the surface of magnetic beads. 9 This was achieved using a biotinylated reverse primer for magnetic bead capture, and a forward primer modified with an internal spacer and 5' overhang for direct hybridisation to dye-coded and DNA functionalised nanoparticles.…”

Section: Introductionmentioning

confidence: 99%