Cargando…

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....

Descripción completa

Detalles Bibliográficos
Autores principales: Perlado-Marina, Sara, Bustamante-Aragones, Ana, Horcajada, Laura, Trujillo-Tiebas, Maria Jose, Lorda-Sanchez, Isabel, Ruiz Ramos, Marta, Plaza, Javier, Rodriguez de Alba, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2013
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
_version_ 1782403591843086336
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
work_keys_str_mv AT perladomarinasara overviewoffiveyearsofexperienceperformingnoninvasivefetalsexassessmentinmaternalblood
AT bustamantearagonesana overviewoffiveyearsofexperienceperformingnoninvasivefetalsexassessmentinmaternalblood
AT horcajadalaura overviewoffiveyearsofexperienceperformingnoninvasivefetalsexassessmentinmaternalblood
AT trujillotiebasmariajose overviewoffiveyearsofexperienceperformingnoninvasivefetalsexassessmentinmaternalblood
AT lordasanchezisabel overviewoffiveyearsofexperienceperformingnoninvasivefetalsexassessmentinmaternalblood
AT ruizramosmarta overviewoffiveyearsofexperienceperformingnoninvasivefetalsexassessmentinmaternalblood
AT plazajavier overviewoffiveyearsofexperienceperformingnoninvasivefetalsexassessmentinmaternalblood
AT rodriguezdealbamarta overviewoffiveyearsofexperienceperformingnoninvasivefetalsexassessmentinmaternalblood