Metabolomics: A Pipeline for Biomarker Discovery in Genetic Diseases

Dahabiyeh, Lina A.; Nimer, Refat M.

doi:10.1007/978-981-99-5162-8_3

Clinical Metabolomics Applications in Genetic Diseases 2023

DOI: 10.1007/978-981-99-5162-8_3

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Metabolomics: A Pipeline for Biomarker Discovery in Genetic Diseases

Lina A. Dahabiyeh,

Refat M. Nimer

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2024

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Current State of Research on Potential Biomarkers for Trisomy18 and 21 in Pregnancy Screening

Al balawi,

Ameen,

Elmetwalli

2024

Journal of Disability Research

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Trisomy 18 (T18) and trisomy 21 (T21) are caused by chromosomal abnormalities, leading to intellectual disabilities and various health complications. T18 is caused by an extra chromosome 18, while T21 is caused by an extra chromosome 21. Both conditions cause abnormalities in the genes, which can lead to physical abnormalities and other health complications. Prenatal screening is a critical aspect of prenatal care that aims to identify potential inherited disorders early in pregnancy. Prenatal screening can help in detecting inherited abnormalities, such as T18 and T21, by testing for a certain genetic material in the mother’s blood or amniotic fluid. If the genetic material is detected, it can be further tested and, if necessary, a prenatal diagnosis can be made. This allows for early planning, including DNA counseling, to prepare for any potential health complications associated with the disorder. In recent years, microRNAs have emerged as promising candidates for biomarkers in prenatal screening. Traditional screening methods, such as ultrasound, amniocentesis, and chorionic villus sampling, have played a crucial role in identifying trisomy pregnancies, but their accuracy is limited. In this review, we explore some of the anticipated future technological advancements and their anticipated influence on these screening methods.

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Current State of Research on Potential Biomarkers for Trisomy18 and 21 in Pregnancy Screening

Al balawi,

Ameen,

Elmetwalli

2024

Journal of Disability Research

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show abstract

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Metabolomics: A Pipeline for Biomarker Discovery in Genetic Diseases

Cited by 1 publication

References 104 publications

Current State of Research on Potential Biomarkers for Trisomy18 and 21 in Pregnancy Screening

Current State of Research on Potential Biomarkers for Trisomy18 and 21 in Pregnancy Screening

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