The Experts below are selected from a list of 267 Experts worldwide ranked by ideXlab platform
Carmen Ramos - One of the best experts on this subject based on the ideXlab platform.
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Noninvasive Prenatal Diagnosis of monogenic disorders
Expert Opinion on Biological Therapy, 2012Co-Authors: Marta Rodriguez De Alba, Ana Bustamante-aragones, Sara Perlado, María José Trujillo-tiebas, J. Díaz-recasens, Javier Plaza-arranz, Carmen RamosAbstract:Introduction: Since the presence of circulating cell-free fetal DNA (ccffDNA) in maternal peripheral blood was demonstrated in 1997, great efforts have been done in order to use this source of fetal material for noninvasive Prenatal Diagnosis. The advantage that it represents is avoiding the obstetric invasive procedures required for conventional Prenatal Diagnosis. Areas covered: Efforts are mainly focused on finding the most accurate way to diagnose the most common fetal aneuploidies, paying special attention to trisomy 21. Recent advances in technology offer new diagnostic tools with high degrees of sensitivity thus generating great expectations for this type of Diagnosis. However, there are other reasons why pregnant women undergo conventional Prenatal Diagnosis. Being at risk of transmitting a monogenic disorder is one of them. And although the percentage of those pregnancies may represent a small percentage of the Diagnosis performed in the first trimester, these numbers should not be underestimated...
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Noninvasive Prenatal Diagnosis of monogenic disorders.
Expert opinion on biological therapy, 2012Co-Authors: Marta Rodríguez De Alba, Ana Bustamante-aragones, Sara Perlado, María José Trujillo-tiebas, J. Díaz-recasens, Javier Plaza-arranz, Carmen RamosAbstract:Since the presence of circulating cell-free fetal DNA (ccffDNA) in maternal peripheral blood was demonstrated in 1997, great efforts have been done in order to use this source of fetal material for noninvasive Prenatal Diagnosis. The advantage that it represents is avoiding the obstetric invasive procedures required for conventional Prenatal Diagnosis. Efforts are mainly focused on finding the most accurate way to diagnose the most common fetal aneuploidies, paying special attention to trisomy 21. Recent advances in technology offer new diagnostic tools with high degrees of sensitivity thus generating great expectations for this type of Diagnosis. However, there are other reasons why pregnant women undergo conventional Prenatal Diagnosis. Being at risk of transmitting a monogenic disorder is one of them. And although the percentage of those pregnancies may represent a small percentage of the Diagnosis performed in the first trimester, these numbers should not be underestimated. Management of pregnancies at risk of an X-linked Mendelian disorder has changed thanks to the noninvasive fetal sex assessment. As for other Mendelian disorders, until recently, their study was limited to those cases paternally inherited. Nevertheless, the new emerging technologies are also opening the scope to maternally inherited disorders.
Magdalena Ugarte - One of the best experts on this subject based on the ideXlab platform.
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Prenatal Diagnosis of propionic acidemia.
Prenatal diagnosis, 2004Co-Authors: Celia Pérez-cerdá, Lourdes R. Desviat, Belén Pérez, Begoña Merinero, P. Rodríguez Pombo, Magdalena UgarteAbstract:In this report we summarize our experience in Prenatal Diagnosis of propionic acidemia (PA) since 1987. Overall, we have investigated 25 pregnancies at risk from 19 unrelated families. Until genetic structure of the genes involved in PA was elucidated, Prenatal Diagnosis has been successfully performed by means of metabolite quantitation and/or enzymatic assays in foetal issue. Today, direct propionyl-CoA carboxylase activity assay in combination with molecular analysis in chorion villi can be regarded as a fast and reliable method of choice for Prenatal Diagnosis of this organic acidemia.
Ana Bustamante-aragones - One of the best experts on this subject based on the ideXlab platform.
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Noninvasive Prenatal Diagnosis of monogenic disorders
Expert Opinion on Biological Therapy, 2012Co-Authors: Marta Rodriguez De Alba, Ana Bustamante-aragones, Sara Perlado, María José Trujillo-tiebas, J. Díaz-recasens, Javier Plaza-arranz, Carmen RamosAbstract:Introduction: Since the presence of circulating cell-free fetal DNA (ccffDNA) in maternal peripheral blood was demonstrated in 1997, great efforts have been done in order to use this source of fetal material for noninvasive Prenatal Diagnosis. The advantage that it represents is avoiding the obstetric invasive procedures required for conventional Prenatal Diagnosis. Areas covered: Efforts are mainly focused on finding the most accurate way to diagnose the most common fetal aneuploidies, paying special attention to trisomy 21. Recent advances in technology offer new diagnostic tools with high degrees of sensitivity thus generating great expectations for this type of Diagnosis. However, there are other reasons why pregnant women undergo conventional Prenatal Diagnosis. Being at risk of transmitting a monogenic disorder is one of them. And although the percentage of those pregnancies may represent a small percentage of the Diagnosis performed in the first trimester, these numbers should not be underestimated...
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Noninvasive Prenatal Diagnosis of monogenic disorders.
Expert opinion on biological therapy, 2012Co-Authors: Marta Rodríguez De Alba, Ana Bustamante-aragones, Sara Perlado, María José Trujillo-tiebas, J. Díaz-recasens, Javier Plaza-arranz, Carmen RamosAbstract:Since the presence of circulating cell-free fetal DNA (ccffDNA) in maternal peripheral blood was demonstrated in 1997, great efforts have been done in order to use this source of fetal material for noninvasive Prenatal Diagnosis. The advantage that it represents is avoiding the obstetric invasive procedures required for conventional Prenatal Diagnosis. Efforts are mainly focused on finding the most accurate way to diagnose the most common fetal aneuploidies, paying special attention to trisomy 21. Recent advances in technology offer new diagnostic tools with high degrees of sensitivity thus generating great expectations for this type of Diagnosis. However, there are other reasons why pregnant women undergo conventional Prenatal Diagnosis. Being at risk of transmitting a monogenic disorder is one of them. And although the percentage of those pregnancies may represent a small percentage of the Diagnosis performed in the first trimester, these numbers should not be underestimated. Management of pregnancies at risk of an X-linked Mendelian disorder has changed thanks to the noninvasive fetal sex assessment. As for other Mendelian disorders, until recently, their study was limited to those cases paternally inherited. Nevertheless, the new emerging technologies are also opening the scope to maternally inherited disorders.
Sara Perlado - One of the best experts on this subject based on the ideXlab platform.
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Noninvasive Prenatal Diagnosis of monogenic disorders
Expert Opinion on Biological Therapy, 2012Co-Authors: Marta Rodriguez De Alba, Ana Bustamante-aragones, Sara Perlado, María José Trujillo-tiebas, J. Díaz-recasens, Javier Plaza-arranz, Carmen RamosAbstract:Introduction: Since the presence of circulating cell-free fetal DNA (ccffDNA) in maternal peripheral blood was demonstrated in 1997, great efforts have been done in order to use this source of fetal material for noninvasive Prenatal Diagnosis. The advantage that it represents is avoiding the obstetric invasive procedures required for conventional Prenatal Diagnosis. Areas covered: Efforts are mainly focused on finding the most accurate way to diagnose the most common fetal aneuploidies, paying special attention to trisomy 21. Recent advances in technology offer new diagnostic tools with high degrees of sensitivity thus generating great expectations for this type of Diagnosis. However, there are other reasons why pregnant women undergo conventional Prenatal Diagnosis. Being at risk of transmitting a monogenic disorder is one of them. And although the percentage of those pregnancies may represent a small percentage of the Diagnosis performed in the first trimester, these numbers should not be underestimated...
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Noninvasive Prenatal Diagnosis of monogenic disorders.
Expert opinion on biological therapy, 2012Co-Authors: Marta Rodríguez De Alba, Ana Bustamante-aragones, Sara Perlado, María José Trujillo-tiebas, J. Díaz-recasens, Javier Plaza-arranz, Carmen RamosAbstract:Since the presence of circulating cell-free fetal DNA (ccffDNA) in maternal peripheral blood was demonstrated in 1997, great efforts have been done in order to use this source of fetal material for noninvasive Prenatal Diagnosis. The advantage that it represents is avoiding the obstetric invasive procedures required for conventional Prenatal Diagnosis. Efforts are mainly focused on finding the most accurate way to diagnose the most common fetal aneuploidies, paying special attention to trisomy 21. Recent advances in technology offer new diagnostic tools with high degrees of sensitivity thus generating great expectations for this type of Diagnosis. However, there are other reasons why pregnant women undergo conventional Prenatal Diagnosis. Being at risk of transmitting a monogenic disorder is one of them. And although the percentage of those pregnancies may represent a small percentage of the Diagnosis performed in the first trimester, these numbers should not be underestimated. Management of pregnancies at risk of an X-linked Mendelian disorder has changed thanks to the noninvasive fetal sex assessment. As for other Mendelian disorders, until recently, their study was limited to those cases paternally inherited. Nevertheless, the new emerging technologies are also opening the scope to maternally inherited disorders.
María José Trujillo-tiebas - One of the best experts on this subject based on the ideXlab platform.
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Noninvasive Prenatal Diagnosis of monogenic disorders
Expert Opinion on Biological Therapy, 2012Co-Authors: Marta Rodriguez De Alba, Ana Bustamante-aragones, Sara Perlado, María José Trujillo-tiebas, J. Díaz-recasens, Javier Plaza-arranz, Carmen RamosAbstract:Introduction: Since the presence of circulating cell-free fetal DNA (ccffDNA) in maternal peripheral blood was demonstrated in 1997, great efforts have been done in order to use this source of fetal material for noninvasive Prenatal Diagnosis. The advantage that it represents is avoiding the obstetric invasive procedures required for conventional Prenatal Diagnosis. Areas covered: Efforts are mainly focused on finding the most accurate way to diagnose the most common fetal aneuploidies, paying special attention to trisomy 21. Recent advances in technology offer new diagnostic tools with high degrees of sensitivity thus generating great expectations for this type of Diagnosis. However, there are other reasons why pregnant women undergo conventional Prenatal Diagnosis. Being at risk of transmitting a monogenic disorder is one of them. And although the percentage of those pregnancies may represent a small percentage of the Diagnosis performed in the first trimester, these numbers should not be underestimated...
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Noninvasive Prenatal Diagnosis of monogenic disorders.
Expert opinion on biological therapy, 2012Co-Authors: Marta Rodríguez De Alba, Ana Bustamante-aragones, Sara Perlado, María José Trujillo-tiebas, J. Díaz-recasens, Javier Plaza-arranz, Carmen RamosAbstract:Since the presence of circulating cell-free fetal DNA (ccffDNA) in maternal peripheral blood was demonstrated in 1997, great efforts have been done in order to use this source of fetal material for noninvasive Prenatal Diagnosis. The advantage that it represents is avoiding the obstetric invasive procedures required for conventional Prenatal Diagnosis. Efforts are mainly focused on finding the most accurate way to diagnose the most common fetal aneuploidies, paying special attention to trisomy 21. Recent advances in technology offer new diagnostic tools with high degrees of sensitivity thus generating great expectations for this type of Diagnosis. However, there are other reasons why pregnant women undergo conventional Prenatal Diagnosis. Being at risk of transmitting a monogenic disorder is one of them. And although the percentage of those pregnancies may represent a small percentage of the Diagnosis performed in the first trimester, these numbers should not be underestimated. Management of pregnancies at risk of an X-linked Mendelian disorder has changed thanks to the noninvasive fetal sex assessment. As for other Mendelian disorders, until recently, their study was limited to those cases paternally inherited. Nevertheless, the new emerging technologies are also opening the scope to maternally inherited disorders.
