نتایج جستجو برای: Trisomy 13

تعداد نتایج: 336634  

Journal: :Materia Medica 2014

Journal: :Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2013
G Ashoor A Syngelaki E Wang C Struble A Oliphant K Song K H Nicolaides

OBJECTIVE To assess the performance of chromosome-selective sequencing of maternal plasma cell-free DNA (cfDNA) in non-invasive prenatal testing for trisomy 13. METHODS Two-phase case-control study on a single plasma sample per case. The first phase was used to optimize the trisomy 13 algorithm, which was then applied to a second dataset to determine the risk score for trisomy 13 by laborator...

2016
L. C. Poon D. Dumidrascu‐Diris C. Francisco I. Fantasia K. H. Nicolaides

OBJECTIVE To assess the potential performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using the IONA® test. METHODS This was a nested case-control study of cfDNA analysis of maternal plasma using the IONA test. Samples were obtained at 11-13 weeks' gestation, before chorionic villus sampling, from 201 euploid pregnancies, 35 with tris...

Journal: :Journal of Medical Genetics 1979

Journal: :Archives of Disease in Childhood 1994

Journal: :Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia 2015
Caroline Soares Cristofari Emer Julio Alejandro Peña Duque Ana Lúcia Letti Müller Rejane Gus Maria Teresa Vieira Sanseverino André Anjos da Silva José Antonio de Azevedo Magalhães

PURPOSE To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition. METHODS A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Tea...

Journal: :Journal of medical genetics 1987
P A Jacobs T J Hassold A Henry D Pettay N Takaesu

In a series of 2922 karyotyped spontaneous abortions, 62 were found to be trisomic for chromosome 13, 46 having a simple trisomy and 16 a translocation trisomy. The epidemiology of this series of trisomy 13 conceptuses is presented and compared to that of trisomy 13 ascertained from other populations. In most compared parameters the trisomy 13 spontaneous abortions are very similar. However, th...

2011
Eric Z. Chen Rossa W. K. Chiu Hao Sun Ranjit Akolekar K. C. Allen Chan Tak Y. Leung Peiyong Jiang Yama W. L. Zheng Fiona M. F. Lun Lisa Y. S. Chan Yongjie Jin Attie T. J. I. Go Elizabeth T. Lau William W. K. To Wing C. Leung Rebecca Y. K. Tang Sidney K. C. Au-Yeung Helena Lam Yu Y. Kung Xiuqing Zhang John M. G. van Vugt Ryoko Minekawa Mary H. Y. Tang Jun Wang Cees B. M. Oudejans Tze K. Lau Kypros H. Nicolaides Y. M. Dennis Lo

Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a...

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