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Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood
Since the discovery of the presence of fetal DNA in maternal blood, non-invasive fetal sex determination has been the test most widely translated into clinical practice. To date there is no agreement between the different laboratories performing such tests in relation to which is the best protocol....
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4665538/ https://www.ncbi.nlm.nih.gov/pubmed/26835681 http://dx.doi.org/10.3390/diagnostics3020283 |
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author | Perlado-Marina, Sara Bustamante-Aragones, Ana Horcajada, Laura Trujillo-Tiebas, Maria Jose Lorda-Sanchez, Isabel Ruiz Ramos, Marta Plaza, Javier Rodriguez de Alba, Marta |
author_facet | Perlado-Marina, Sara Bustamante-Aragones, Ana Horcajada, Laura Trujillo-Tiebas, Maria Jose Lorda-Sanchez, Isabel Ruiz Ramos, Marta Plaza, Javier Rodriguez de Alba, Marta |
author_sort | Perlado-Marina, Sara |
collection | PubMed |
description | Since the discovery of the presence of fetal DNA in maternal blood, non-invasive fetal sex determination has been the test most widely translated into clinical practice. To date there is no agreement between the different laboratories performing such tests in relation to which is the best protocol. As a consequence there are almost as many protocols as laboratories offering the service, using different methodologies and thus obtaining different diagnostic accuracies. By the end of 2007, after a validation study performed in 316 maternal samples collected between the 5th and 12th week of gestation, the fetal sex determination was incorporated into clinical practice in our Service. The test is performed in the first trimester of pregnancy, and it is offered as part of the genetic counseling process for couples at risk of X-linked disorders. As a general rule and in order to avoid misdiagnosis, two samples at different gestational ages are tested per patient. The analysis is performed by the study of the SRY gene by RT-PCR. Two hundred and twenty six pregnancies have been tested so far in these 5 years. Neither false positives nor false negatives diagnoses have been registered, thus giving a diagnostic accuracy of 100%. |
format | Online Article Text |
id | pubmed-4665538 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-46655382016-01-27 Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood Perlado-Marina, Sara Bustamante-Aragones, Ana Horcajada, Laura Trujillo-Tiebas, Maria Jose Lorda-Sanchez, Isabel Ruiz Ramos, Marta Plaza, Javier Rodriguez de Alba, Marta Diagnostics (Basel) Article Since the discovery of the presence of fetal DNA in maternal blood, non-invasive fetal sex determination has been the test most widely translated into clinical practice. To date there is no agreement between the different laboratories performing such tests in relation to which is the best protocol. As a consequence there are almost as many protocols as laboratories offering the service, using different methodologies and thus obtaining different diagnostic accuracies. By the end of 2007, after a validation study performed in 316 maternal samples collected between the 5th and 12th week of gestation, the fetal sex determination was incorporated into clinical practice in our Service. The test is performed in the first trimester of pregnancy, and it is offered as part of the genetic counseling process for couples at risk of X-linked disorders. As a general rule and in order to avoid misdiagnosis, two samples at different gestational ages are tested per patient. The analysis is performed by the study of the SRY gene by RT-PCR. Two hundred and twenty six pregnancies have been tested so far in these 5 years. Neither false positives nor false negatives diagnoses have been registered, thus giving a diagnostic accuracy of 100%. MDPI 2013-05-15 /pmc/articles/PMC4665538/ /pubmed/26835681 http://dx.doi.org/10.3390/diagnostics3020283 Text en © 2013 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 | Article Perlado-Marina, Sara Bustamante-Aragones, Ana Horcajada, Laura Trujillo-Tiebas, Maria Jose Lorda-Sanchez, Isabel Ruiz Ramos, Marta Plaza, Javier Rodriguez de Alba, Marta Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood |
title | Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood |
title_full | Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood |
title_fullStr | Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood |
title_full_unstemmed | Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood |
title_short | Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood |
title_sort | overview of five-years of experience performing non-invasive fetal sex assessment in maternal blood |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4665538/ https://www.ncbi.nlm.nih.gov/pubmed/26835681 http://dx.doi.org/10.3390/diagnostics3020283 |
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