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Recent advances in prenatal genetic screening and testing
The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recen...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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F1000Research
2016
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089140/ https://www.ncbi.nlm.nih.gov/pubmed/27853526 http://dx.doi.org/10.12688/f1000research.9215.1 |
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author | Van den Veyver, Ignatia B. |
author_facet | Van den Veyver, Ignatia B. |
author_sort | Van den Veyver, Ignatia B. |
collection | PubMed |
description | The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy. |
format | Online Article Text |
id | pubmed-5089140 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | F1000Research |
record_format | MEDLINE/PubMed |
spelling | pubmed-50891402016-11-15 Recent advances in prenatal genetic screening and testing Van den Veyver, Ignatia B. F1000Res Review The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy. F1000Research 2016-10-28 /pmc/articles/PMC5089140/ /pubmed/27853526 http://dx.doi.org/10.12688/f1000research.9215.1 Text en Copyright: © 2016 Van den Veyver IB http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Van den Veyver, Ignatia B. Recent advances in prenatal genetic screening and testing |
title | Recent advances in prenatal genetic screening and testing |
title_full | Recent advances in prenatal genetic screening and testing |
title_fullStr | Recent advances in prenatal genetic screening and testing |
title_full_unstemmed | Recent advances in prenatal genetic screening and testing |
title_short | Recent advances in prenatal genetic screening and testing |
title_sort | recent advances in prenatal genetic screening and testing |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089140/ https://www.ncbi.nlm.nih.gov/pubmed/27853526 http://dx.doi.org/10.12688/f1000research.9215.1 |
work_keys_str_mv | AT vandenveyverignatiab recentadvancesinprenatalgeneticscreeningandtesting |