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The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review

Prenatal diagnosis of hereditary diseases has substantially altered the way medical geneticists are helping families affected by genetic disorders. However, the risk of miscarriage and fear of invasive diagnostic procedures may discourage many couples from seeking prenatal diagnosis. With the discov...

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Autores principales: Mahdi Mortazavipour, Mohamad, ‎Mahdian, Reza, Shahbazi, Shirin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Knowledge E 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9596931/
https://www.ncbi.nlm.nih.gov/pubmed/36313257
http://dx.doi.org/10.18502/ijrm.v20i8.11751
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author Mahdi Mortazavipour, Mohamad
‎Mahdian, Reza
Shahbazi, Shirin
author_facet Mahdi Mortazavipour, Mohamad
‎Mahdian, Reza
Shahbazi, Shirin
author_sort Mahdi Mortazavipour, Mohamad
collection PubMed
description Prenatal diagnosis of hereditary diseases has substantially altered the way medical geneticists are helping families affected by genetic disorders. However, the risk of miscarriage and fear of invasive diagnostic procedures may discourage many couples from seeking prenatal diagnosis. With the discovery of maternal plasma cell-free fetal DNA, prenatal diagnosis has entered a new era of progress. Cell-free DNA is released during normal physiological functions as well as through the cell death programs of apoptosis and necrosis. It can be found in the plasma and other body fluids. Although this method has the advantage of being noninvasive, it is still rather expensive and requires advanced hardware and comprehensive data analysis. Promising implications of noninvasive prenatal diagnosis methods for the diagnosis of common trisomy disorders have paved the way for the development of more complicated assays of single-gene disorders. Relative mutation dosage and relative haplotype dosage are the most widely implemented assays for noninvasive prenatal diagnosis of single-gene disorders. However, each assay has its own advantages and disadvantages. Relative mutation dosage is based on the droplet digital polymerase chain reaction (PCR) technique which includes quantification features of real-time PCR assays. Relative haplotype dosage is based on next-generation sequencing that includes analysis of the maternal and paternal genome followed by sequencing of maternal plasma cell-free DNA. Co-amplification at a lower denaturation temperature PCR is another approach that is based on forming heteroduplexes between alleles to selectively amplify paternal mutations. In this review, we have described the most common noninvasive prenatal diagnosis approaches and compared their applications in genetic disorder diagnosis with different inheritance patterns.
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spelling pubmed-95969312022-10-29 The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review Mahdi Mortazavipour, Mohamad ‎Mahdian, Reza Shahbazi, Shirin Int J Reprod Biomed Review Article Prenatal diagnosis of hereditary diseases has substantially altered the way medical geneticists are helping families affected by genetic disorders. However, the risk of miscarriage and fear of invasive diagnostic procedures may discourage many couples from seeking prenatal diagnosis. With the discovery of maternal plasma cell-free fetal DNA, prenatal diagnosis has entered a new era of progress. Cell-free DNA is released during normal physiological functions as well as through the cell death programs of apoptosis and necrosis. It can be found in the plasma and other body fluids. Although this method has the advantage of being noninvasive, it is still rather expensive and requires advanced hardware and comprehensive data analysis. Promising implications of noninvasive prenatal diagnosis methods for the diagnosis of common trisomy disorders have paved the way for the development of more complicated assays of single-gene disorders. Relative mutation dosage and relative haplotype dosage are the most widely implemented assays for noninvasive prenatal diagnosis of single-gene disorders. However, each assay has its own advantages and disadvantages. Relative mutation dosage is based on the droplet digital polymerase chain reaction (PCR) technique which includes quantification features of real-time PCR assays. Relative haplotype dosage is based on next-generation sequencing that includes analysis of the maternal and paternal genome followed by sequencing of maternal plasma cell-free DNA. Co-amplification at a lower denaturation temperature PCR is another approach that is based on forming heteroduplexes between alleles to selectively amplify paternal mutations. In this review, we have described the most common noninvasive prenatal diagnosis approaches and compared their applications in genetic disorder diagnosis with different inheritance patterns. Knowledge E 2022-09-06 /pmc/articles/PMC9596931/ /pubmed/36313257 http://dx.doi.org/10.18502/ijrm.v20i8.11751 Text en Copyright © 2022 Mortazavipour et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review Article
Mahdi Mortazavipour, Mohamad
‎Mahdian, Reza
Shahbazi, Shirin
The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review
title The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review
title_full The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review
title_fullStr The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review
title_full_unstemmed The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review
title_short The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review
title_sort current applications of cell-free fetal dna in prenatal diagnosis of single-gene diseases: a review
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9596931/
https://www.ncbi.nlm.nih.gov/pubmed/36313257
http://dx.doi.org/10.18502/ijrm.v20i8.11751
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