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The current state of prenatal detection of genetic conditions in congenital heart defects
The incidence of congenital heart defect (CHD) has increased over the past fifty years, partly attributed to routine fetal anatomical examination by sonography during obstetric care and improvements in ultrasound technology and technique. Fetal findings on ultrasound in addition to maternal biomarke...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8429866/ https://www.ncbi.nlm.nih.gov/pubmed/34584888 http://dx.doi.org/10.21037/tp-20-315 |
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author | Findley, Tina O. Northrup, Hope |
author_facet | Findley, Tina O. Northrup, Hope |
author_sort | Findley, Tina O. |
collection | PubMed |
description | The incidence of congenital heart defect (CHD) has increased over the past fifty years, partly attributed to routine fetal anatomical examination by sonography during obstetric care and improvements in ultrasound technology and technique. Fetal findings on ultrasound in addition to maternal biomarkers are the backbone of first- and second-trimester screening for common genetic conditions, namely aneuploidy. Since the introduction of non-invasive prenatal testing (NIPT) using next-generation sequencing to sequence cell-free fetal DNA, the detection rate of common trisomies as well as sex chromosomal aneuploidies have markedly increased. As the use of NIPT continues to broaden, the best means of incorporating NIPT into prenatal care is less clear and complicated by misunderstanding of the limitations and non-diagnostic role of NIPT by clinicians and families. In other advancements in prenatal genetic testing, recommendations on the role of chromosomal microarray (CMA) for prenatal diagnosis has led to its increasing use to identify genetic conditions in fetuses diagnosed with CHD. Lastly, as whole exome sequencing (WES) becomes more available and affordable, the next clinical application of next-generation sequencing in prenatal diagnostic testing is on the horizon. While newer genetic tests may provide answers in terms of genetic diagnosis, even more questions will likely ensue for clinicians, researchers, and parents. The objective of this review is to provide the perspective of the evolution of maternal and fetal obstetric care against the backdrop of advancing genetic technology and its impact on families and clinicians. |
format | Online Article Text |
id | pubmed-8429866 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | AME Publishing Company |
record_format | MEDLINE/PubMed |
spelling | pubmed-84298662021-09-27 The current state of prenatal detection of genetic conditions in congenital heart defects Findley, Tina O. Northrup, Hope Transl Pediatr Review Article on Pre-natal Diagnosis in Congenital Heart Defects The incidence of congenital heart defect (CHD) has increased over the past fifty years, partly attributed to routine fetal anatomical examination by sonography during obstetric care and improvements in ultrasound technology and technique. Fetal findings on ultrasound in addition to maternal biomarkers are the backbone of first- and second-trimester screening for common genetic conditions, namely aneuploidy. Since the introduction of non-invasive prenatal testing (NIPT) using next-generation sequencing to sequence cell-free fetal DNA, the detection rate of common trisomies as well as sex chromosomal aneuploidies have markedly increased. As the use of NIPT continues to broaden, the best means of incorporating NIPT into prenatal care is less clear and complicated by misunderstanding of the limitations and non-diagnostic role of NIPT by clinicians and families. In other advancements in prenatal genetic testing, recommendations on the role of chromosomal microarray (CMA) for prenatal diagnosis has led to its increasing use to identify genetic conditions in fetuses diagnosed with CHD. Lastly, as whole exome sequencing (WES) becomes more available and affordable, the next clinical application of next-generation sequencing in prenatal diagnostic testing is on the horizon. While newer genetic tests may provide answers in terms of genetic diagnosis, even more questions will likely ensue for clinicians, researchers, and parents. The objective of this review is to provide the perspective of the evolution of maternal and fetal obstetric care against the backdrop of advancing genetic technology and its impact on families and clinicians. AME Publishing Company 2021-08 /pmc/articles/PMC8429866/ /pubmed/34584888 http://dx.doi.org/10.21037/tp-20-315 Text en 2021 Translational Pediatrics. All rights reserved. https://creativecommons.org/licenses/by-nc-nd/4.0/Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) . |
spellingShingle | Review Article on Pre-natal Diagnosis in Congenital Heart Defects Findley, Tina O. Northrup, Hope The current state of prenatal detection of genetic conditions in congenital heart defects |
title | The current state of prenatal detection of genetic conditions in congenital heart defects |
title_full | The current state of prenatal detection of genetic conditions in congenital heart defects |
title_fullStr | The current state of prenatal detection of genetic conditions in congenital heart defects |
title_full_unstemmed | The current state of prenatal detection of genetic conditions in congenital heart defects |
title_short | The current state of prenatal detection of genetic conditions in congenital heart defects |
title_sort | current state of prenatal detection of genetic conditions in congenital heart defects |
topic | Review Article on Pre-natal Diagnosis in Congenital Heart Defects |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8429866/ https://www.ncbi.nlm.nih.gov/pubmed/34584888 http://dx.doi.org/10.21037/tp-20-315 |
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