Genetic screening techniques and diseases for neonatal genetic diseases

Han, Lianshu

doi:10.3724/zdxbyxb-2021-0288

Cited by 5 publications

(5 citation statements)

References 13 publications

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“…These traditional methods for detecting newborn genetic diseases have many drawbacks such as being time-consuming and risk of missed screening [39][40][41]. As an alternative, newborn genetic disease screening allows children to be diagnosed and treated within a short period after birth, which can avoid death or reduce the degree of disability caused by genetic diseases [12,13,42]. Currently, there are many genetic testing techniques available.…”

Section: Discussionmentioning

confidence: 99%

“…In addition, MS/MS has a high false-positive rate and positive predictive value [10][11][12]. In recent years, many scienti c research institutions have applied genetic testing for neonatal genetic disease screening [13][14][15]. At the genetic level, dozens to thousands of diseases can be detected in a single test, favoring the development of a screening method for neonatal genetic disorders.…”

Section: Introductionmentioning

confidence: 99%

“…With advances in genetic testing technology, the application of next-generation sequencing (NGS) in NBS is becoming more and more important [16][17][18]. Because of the wide range of applications of NGS, NBS is no longer limited to screening for IEM and can include additional neonatal genetic disorders and even certain genetic disorders without speci c metabolites, such as deafness and spinal muscular atrophy [13]. Similar to MS/MS, NGS offers the possibility of screening more diseases at a lower cost per disease [19].…”

Section: Introductionmentioning

confidence: 99%

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Integrating Newborn Genetic Screening with Traditional Screening to Improve Newborn Screening

Men,

Wang,

Tang

et al. 2024

Preprint

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Background: Traditional newborn screening (NBS) for inborn errors of metabolism (IEM) and deafness has limitations due to the detection of fewer genetic disorders and variants, higher false-positive rates, and longer detection periods. This study aimed to explore the clinical validity of newborn genetic screening (NBGS) in newborns with IEM and deafness. Methods: We retrospectively enrolled 223 cases screened for IEM by tandem mass spectrometry (MS/MS)-next-generation sequencing (NGS), including 55 positive, 68 suspected positive, and 100 negative cases. Additionally, 196 cases screened for deafness were enrolled, including 96 variant-positive and 100 negative cases. Dry blood spot samples from the newborns were used for NBGS. Results: For IEM, NBGS detected 34 positives in 55 positive cases with a sensitivity of 61.8% (34/55), whereas variants were not detected in 21 cases. Four additional positive cases were found, including one at risk of glucose-6-phosphate dehydrogenase deficiency and three at risk of deafness. The diagnostic time observed between the two methods exhibited a significant difference: 13 days for NBGS and 35 days for MS/MS-NGS. For deafness, the consistency in the positive results between the two methods was 96.9% (93/96). Unexpectedly, three mitochondrial gene (MT-RNR1) heterogeneous variants (m.1555A>G and m.7445A>G) were not detected by NBGS. We also detected nine variants out of 100 negative cases, including seven GJB2 (c.109G>A), one GJB3 (c.547G>A), and one MYO15A (c.10250_10252delCCT), with a 9% (9/100) detection rate by NBGS. Conclusion: As a novel screening method for newborns, NBGS can detect more gene variants, reduce the false-positive rate, and shorten the diagnostic cycle. Our research provides a foundation for the clinical application of NBGS.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Integrating Newborn Genetic Screening with Traditional Screening to Improve Newborn Screening

Men,

Wang,

Tang

et al. 2024

Preprint

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“…At present, qPCR and gene sequencing are the main technologies for screening neonatal genetic diseases. Genetic screening disorders range from a single disorder, such as hereditary deafness, to multiple disorders [78]. Hearing screening combined with genetic screening is helpful for the early diagnosis and intervention of clinical hearing impairment.…”

Section: Applications Of Pcr For Inherited Diseasesmentioning

confidence: 99%

PCR Techniques and Their Clinical Applications

Wang¹,

Cai²,

Chen³

et al. 2024

Biochemistry

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Kary B. Mullis developed a revolutionary method name polymerase chain reaction (PCR) in 1983, which can synthesize new strand of DNA complementary to the template strand of DNA and produce billions of copies of a DNA fragment only in few hours. Denaturation, annealing, and extension are the three primary steps involved in the PCR process, which generally requires thermocyclers, DNA template, a pair of primers, Taq polymerase, nucleotides, buffers, etc. With the development of PCR, from traditional PCR, quantitative PCR, to next digital PCR, PCR has become a powerful tool in life sciences and medicine. Applications of PCR techniques for infectious diseases include specific or broad-spectrum pathogen detection, assessment and surveillance of emerging infections, early detection of biological threat agents, and antimicrobial resistance analysis. Applications of PCR techniques for genetic diseases include prenatal diagnosis and screening of neonatal genetic diseases. Applications of PCR techniques for cancer research include tumor-related gene detection. This chapter aimed to discuss about the different types of PCR techniques, including traditional PCR, quantitative PCR, digital PCR, etc., and their applications for rapid detection, mutation screen or diagnosis in infectious diseases, inherited diseases, cancer, and other diseases.

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“…clinical application, laboratory management, molecular diagnostic technology, paediatrics Molecular genetic diagnosis is a technology and method based on the theory of molecular biology to study the existence, structure, genetic sequences or expression regulation of human endogenous or exogenous biological macromolecules and macromolecular systems. [1][2][3][4] It plays an important role in the fields of genetic disease diagnosis and newborn screening, [5][6][7][8][9][10][11] and also has significant advantages in the detection of new, rare and unknown pathogens, [12][13][14] which can be used to provide information and decision-making basis for disease prevention, prediction, diagnosis, treatment and progression. [15][16][17][18][19][20][21][22]…”

Section: Introductionmentioning

confidence: 99%

The clinical application and laboratory management of molecular genetic diagnosis in children's hospital

Bao,

Fu,

Zhang

et al. 2024

Clinical and Translational Dis

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BackgroundMolecular diagnostic technology is the foundation of precision medicine, which has the advantages of good specificity, high sensitivity, strong targeting, rapiddiagnosis, etc. It has a wide range of applications in the field of pediatrics. However, molecular diagnostic technology is characterized by complicated experimental operation, high difficulty in data analysis and interpretation, in consistent standards among laboratories, and difficult standardization of technical processes. Enhancing the application value of molecular diagnostic technology in pediatrics and promoting the high‐quality development of the discipline requires careful consideration by relevant management and professionals.MethodsThis study firstly outlines the development history of molecular diagnostic technology. Then, it analyzes the application of molecular diagnostic technology in the field of pediatrics. Finally, it explores the countermeasures for the management of molecular diagnostic laboratories.ResultsThis study highlights the importance of molecular diagnostic technology in providing information and decision‐making basis for disease prevention, prediction,diagnosis, treatment and regression. It has a wide range of applications in the molecular diagnosis of pediatric hereditary diseases, malignant tumors and infectious diseases. In addition, the countermeasures for the management of molecular diagnostic laboratories are proposed from the five aspects of laboratory, personnel team construction, standardized management,multidisciplinary cross‐discipline, research and translation, safety managementand ethical supervision, and management upgrading and modernization.ConclusionsMolecular diagnostic technology, as the basis of precision medicine, has become one of the important frontier fields in the development of contemporary pediatric medicine. Enhanced laboratory capacity in molecular diagnostic techniques can improve outcomes in the prevention, prediction, diagnosis, treatment, prognosis and research of pediatricdiseases, and lay the groundwork for child healthcare.

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Genetic screening techniques and diseases for neonatal genetic diseases

Cited by 5 publications

References 13 publications

Integrating Newborn Genetic Screening with Traditional Screening to Improve Newborn Screening

Integrating Newborn Genetic Screening with Traditional Screening to Improve Newborn Screening

PCR Techniques and Their Clinical Applications

The clinical application and laboratory management of molecular genetic diagnosis in children's hospital

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