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The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing
Pregnant couples tend to prefer a maximum of information about the health of their fetus. Therefore, we implemented whole genome microarray instead of conventional karyotyping (CK) for all indications for prenatal diagnosis (PND). The array detects more clinically relevant anomalies, including early...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449635/ https://www.ncbi.nlm.nih.gov/pubmed/26237473 http://dx.doi.org/10.3390/jcm3030713 |
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author | Riedijk, Sam Diderich, Karin E. M. van der Steen, Sanne L. Govaerts, Lutgarde C. P. Joosten, Marieke Knapen, Maarten F. C. M. de Vries, Femke A. T. van Opstal, Diane Tibben, Aad Galjaard, Robert-Jan H. |
author_facet | Riedijk, Sam Diderich, Karin E. M. van der Steen, Sanne L. Govaerts, Lutgarde C. P. Joosten, Marieke Knapen, Maarten F. C. M. de Vries, Femke A. T. van Opstal, Diane Tibben, Aad Galjaard, Robert-Jan H. |
author_sort | Riedijk, Sam |
collection | PubMed |
description | Pregnant couples tend to prefer a maximum of information about the health of their fetus. Therefore, we implemented whole genome microarray instead of conventional karyotyping (CK) for all indications for prenatal diagnosis (PND). The array detects more clinically relevant anomalies, including early onset disorders, not related to the indication and more genetic anomalies of yet unquantifiable risk, so-called susceptibility loci (SL) for mainly neurodevelopmental disorders. This manuscript highlights the psychological challenges in prenatal genetic counselling when using the array and provides counselling suggestions. First, we suggest that pre-test decision counselling should emphasize deliberation about what pregnant couples wish to learn about the future health of their fetus more than information about possible outcomes. Second, pregnant couples need support in dealing with SL. Therefore, in order to consider the SL in a proportionate perspective, the presence of phenotypes associated with SL in the family, the incidence of a particular SL in control populations and in postnatally ascertained patients needs highlighting during post-test genetic counselling. Finally, the decision that couples need to make about the course of their pregnancy is more complicated when the expected phenotype is variable and not quantifiable. Therefore, during post-test psychological counseling, couples should concretize the options of continuing and ending their pregnancy; all underlying feelings and thoughts should be made explicit, as well as the couple’s resources, in order to attain adequate decision-making. As such, pre- and post-test counselling aids pregnant couples in handling the uncertainties that may accompany offering a broader scope of genetic PND using the array. |
format | Online Article Text |
id | pubmed-4449635 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-44496352015-07-28 The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing Riedijk, Sam Diderich, Karin E. M. van der Steen, Sanne L. Govaerts, Lutgarde C. P. Joosten, Marieke Knapen, Maarten F. C. M. de Vries, Femke A. T. van Opstal, Diane Tibben, Aad Galjaard, Robert-Jan H. J Clin Med Review Pregnant couples tend to prefer a maximum of information about the health of their fetus. Therefore, we implemented whole genome microarray instead of conventional karyotyping (CK) for all indications for prenatal diagnosis (PND). The array detects more clinically relevant anomalies, including early onset disorders, not related to the indication and more genetic anomalies of yet unquantifiable risk, so-called susceptibility loci (SL) for mainly neurodevelopmental disorders. This manuscript highlights the psychological challenges in prenatal genetic counselling when using the array and provides counselling suggestions. First, we suggest that pre-test decision counselling should emphasize deliberation about what pregnant couples wish to learn about the future health of their fetus more than information about possible outcomes. Second, pregnant couples need support in dealing with SL. Therefore, in order to consider the SL in a proportionate perspective, the presence of phenotypes associated with SL in the family, the incidence of a particular SL in control populations and in postnatally ascertained patients needs highlighting during post-test genetic counselling. Finally, the decision that couples need to make about the course of their pregnancy is more complicated when the expected phenotype is variable and not quantifiable. Therefore, during post-test psychological counseling, couples should concretize the options of continuing and ending their pregnancy; all underlying feelings and thoughts should be made explicit, as well as the couple’s resources, in order to attain adequate decision-making. As such, pre- and post-test counselling aids pregnant couples in handling the uncertainties that may accompany offering a broader scope of genetic PND using the array. MDPI 2014-07-03 /pmc/articles/PMC4449635/ /pubmed/26237473 http://dx.doi.org/10.3390/jcm3030713 Text en © 2014 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/). |
spellingShingle | Review Riedijk, Sam Diderich, Karin E. M. van der Steen, Sanne L. Govaerts, Lutgarde C. P. Joosten, Marieke Knapen, Maarten F. C. M. de Vries, Femke A. T. van Opstal, Diane Tibben, Aad Galjaard, Robert-Jan H. The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing |
title | The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing |
title_full | The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing |
title_fullStr | The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing |
title_full_unstemmed | The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing |
title_short | The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing |
title_sort | psychological challenges of replacing conventional karyotyping with genomic snp array analysis in prenatal testing |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449635/ https://www.ncbi.nlm.nih.gov/pubmed/26237473 http://dx.doi.org/10.3390/jcm3030713 |
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