Talk:Comparative Genomic Hybridization: Difference between revisions
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==BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1== | {{Talk Page}} | ||
==2011== | |||
===Non-invasive tool for foetal sex determination in early gestational age=== | |||
Haemophilia. 2011 Apr 15. doi: 10.1111/j.1365-2516.2011.02537.x. [Epub ahead of print] | |||
Mortarino M, Garagiola I, Lotta LA, Siboni SM, Semprini AE, Peyvandi F. | |||
U.O.S. Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, University of Milan and Luigi Villa Foundation, Milan, Italy Clinica Ostetrica e Ginecologica, Ospedale Luigi Sacco, University of Milan, Milan, Italy. | |||
Abstract | |||
Summary. Free foetal DNA in maternal blood during early pregnancy is an ideal source of foetal genetic material for non-invasive prenatal diagnosis. The aim of this study was to evaluate the use of free foetal DNA analysis at early gestational age as pretest for the detection of specific Y-chromosome sequences in maternal plasma of women who are carriers of X-linked disorders, such as haemophilia. Real-time quantitative PCR analysis of maternal plasma was performed for the detection of the SRY or DYS14 sequence. A group of 208 pregnant women, at different gestational periods from 4 to 12 weeks, were tested to identify the optimal period to obtain an adequate amount of foetal DNA for prenatal diagnosis. Foetal gender was determined in 181 pregnant women sampled throughout pregnancy. Pregnancy outcome and foetal gender were confirmed using karyotyping, ultrasonography or after birth. The sensitivity, which was low between 4th and 7th week (mean 73%), increased significantly after 7+1th weeks of gestation (mean 94%). The latter sensitivity after 7+1th week of gestation is associated to a high specificity (100%), with an overall accuracy of 96% for foetal gender determination. This analysis demonstrates that foetal gender determination in maternal plasma is reliable after the 9th week of gestation and it can be used, in association with ultrasonography, for screening to determine the need for chorionic villus sampling for prenatal diagnosis of X-linked disorders, such as haemophilia. | |||
© 2011 Blackwell Publishing Ltd. | |||
===BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1=== | |||
Our results confirmed aCGH as a successful strategy in order to characterize additional submicroscopic aberrations in patients with VCF-like features that fail to show alterations in 22q11.2 region. We report a 212-kb microduplication on 1q21.1, detected in two patients, which may contribute to CHD. | Our results confirmed aCGH as a successful strategy in order to characterize additional submicroscopic aberrations in patients with VCF-like features that fail to show alterations in 22q11.2 region. We report a 212-kb microduplication on 1q21.1, detected in two patients, which may contribute to CHD. | ||
http://www.biomedcentral.com/1471-2350/10/144 | http://www.biomedcentral.com/1471-2350/10/144 | ||
Revision as of 17:12, 16 April 2011
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Cite this page: Hill, M.A. (2024, May 3) Embryology Comparative Genomic Hybridization. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Comparative_Genomic_Hybridization |
2011
Non-invasive tool for foetal sex determination in early gestational age
Haemophilia. 2011 Apr 15. doi: 10.1111/j.1365-2516.2011.02537.x. [Epub ahead of print]
Mortarino M, Garagiola I, Lotta LA, Siboni SM, Semprini AE, Peyvandi F.
U.O.S. Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, University of Milan and Luigi Villa Foundation, Milan, Italy Clinica Ostetrica e Ginecologica, Ospedale Luigi Sacco, University of Milan, Milan, Italy.
Abstract Summary. Free foetal DNA in maternal blood during early pregnancy is an ideal source of foetal genetic material for non-invasive prenatal diagnosis. The aim of this study was to evaluate the use of free foetal DNA analysis at early gestational age as pretest for the detection of specific Y-chromosome sequences in maternal plasma of women who are carriers of X-linked disorders, such as haemophilia. Real-time quantitative PCR analysis of maternal plasma was performed for the detection of the SRY or DYS14 sequence. A group of 208 pregnant women, at different gestational periods from 4 to 12 weeks, were tested to identify the optimal period to obtain an adequate amount of foetal DNA for prenatal diagnosis. Foetal gender was determined in 181 pregnant women sampled throughout pregnancy. Pregnancy outcome and foetal gender were confirmed using karyotyping, ultrasonography or after birth. The sensitivity, which was low between 4th and 7th week (mean 73%), increased significantly after 7+1th weeks of gestation (mean 94%). The latter sensitivity after 7+1th week of gestation is associated to a high specificity (100%), with an overall accuracy of 96% for foetal gender determination. This analysis demonstrates that foetal gender determination in maternal plasma is reliable after the 9th week of gestation and it can be used, in association with ultrasonography, for screening to determine the need for chorionic villus sampling for prenatal diagnosis of X-linked disorders, such as haemophilia.
© 2011 Blackwell Publishing Ltd.
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
Our results confirmed aCGH as a successful strategy in order to characterize additional submicroscopic aberrations in patients with VCF-like features that fail to show alterations in 22q11.2 region. We report a 212-kb microduplication on 1q21.1, detected in two patients, which may contribute to CHD.
