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Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?
Current invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highlight the necessity of investing in non invasive pre...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Macedonian Science of Sciences and Arts
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776677/ https://www.ncbi.nlm.nih.gov/pubmed/24052738 http://dx.doi.org/10.2478/v10034-012-0013-z |
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author | Webb, A Madgett, TE Miran, T Sillence, K Kaushik, N Kiernan, M Avent, ND |
author_facet | Webb, A Madgett, TE Miran, T Sillence, K Kaushik, N Kiernan, M Avent, ND |
author_sort | Webb, A |
collection | PubMed |
description | Current invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highlight the necessity of investing in non invasive prenatal diagnosis (NIPD) and how NIPD would improve patient safety and detection rate as well as allowing detection earlier in pregnancy. Non invasive prenatal diagnosis can take either a proteomics approach or nucleic acid-based approach; this review focuses on the latter. Since the discovery of cell free fetal DNA (cffDNA) and fetal RNA in maternal plasma, procedures have been developed for detection for monogenic traits and for some have become well established (e.g., RHD blood group status). However, NIPD of aneuploidies remains technically challenging. This review examines currently published literature evaluating techniques and approaches that have been suggested and developed for aneuploidy detection, highlighting their advantages and limitations and areas for further research. |
format | Online Article Text |
id | pubmed-3776677 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Macedonian Science of Sciences and Arts |
record_format | MEDLINE/PubMed |
spelling | pubmed-37766772013-09-19 Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment? Webb, A Madgett, TE Miran, T Sillence, K Kaushik, N Kiernan, M Avent, ND Balkan J Med Genet Articles Current invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highlight the necessity of investing in non invasive prenatal diagnosis (NIPD) and how NIPD would improve patient safety and detection rate as well as allowing detection earlier in pregnancy. Non invasive prenatal diagnosis can take either a proteomics approach or nucleic acid-based approach; this review focuses on the latter. Since the discovery of cell free fetal DNA (cffDNA) and fetal RNA in maternal plasma, procedures have been developed for detection for monogenic traits and for some have become well established (e.g., RHD blood group status). However, NIPD of aneuploidies remains technically challenging. This review examines currently published literature evaluating techniques and approaches that have been suggested and developed for aneuploidy detection, highlighting their advantages and limitations and areas for further research. Macedonian Science of Sciences and Arts 2012-12 2012-12-22 /pmc/articles/PMC3776677/ /pubmed/24052738 http://dx.doi.org/10.2478/v10034-012-0013-z Text en © Macedonian Academy of Sciences and Arts This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivs license (http://creativecommons.org/licenses/by-nc-nd/3.0/), which means that the text may be used for non-commercial purposes, provided credit is given to the author. |
spellingShingle | Articles Webb, A Madgett, TE Miran, T Sillence, K Kaushik, N Kiernan, M Avent, ND Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment? |
title | Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment? |
title_full | Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment? |
title_fullStr | Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment? |
title_full_unstemmed | Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment? |
title_short | Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment? |
title_sort | non invasive prenatal diagnosis of aneuploidy: next generation sequencing or fetal dna enrichment? |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776677/ https://www.ncbi.nlm.nih.gov/pubmed/24052738 http://dx.doi.org/10.2478/v10034-012-0013-z |
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