نتایج جستجو برای: trisomy 18

تعداد نتایج: 354779  

Journal: :Journal of Medical Genetics 1974

Journal: :Journal of Diagnostic Medical Sonography 1991

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...

Journal: :Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2008
K O Kagan D Wright N Maiz I Pandeva K H Nicolaides

OBJECTIVES To derive a model and examine the performance of first-trimester screening for trisomy 18 by maternal age, fetal nuchal translucency (NT) thickness, and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). METHODS Prospective combined screening for trisomy 21 was performed at 11 + 0 to 13 + 6 weeks in 56 893 singleton ...

Journal: :Molecular human reproduction 2000
E Jauniaux S Bao A Eblen X Li Z M Lei S Meuris C V Rao

Trisomy 21 is associated with high maternal serum concentrations of intact human chorionic gonadotrophin alpha(HCG) and free beta-HCG whereas these concentrations are markedly decreased in trisomy 18. In this study, we investigated the effect of trisomy 21 and 18 on endogenous HCG concentrations and luteinizing hormone (LH)/HCG receptor expression in placental villous tissue in eight trisomy 21...

Journal: :Archives of Disease in Childhood 1986

Journal: :Archives of Disease in Childhood - Fetal and Neonatal Edition 1996

Journal: :American Journal of Medical Genetics 1987

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...

2009
Lidija Kitanovski Zdenka Ovcak Janez Jazbec

INTRODUCTION Edward's syndrome (trisomy 18) is a rare entity with a reported incidence of 1/3000 to 1/7000 births. Less than 10% of patients survive beyond the first year of life, which may influence the fact that malignant tumors are rarely reported in association with this syndrome. CASE PRESENTATION The authors report a rare case of a 6-month-old girl with trisomy 18 and multifocal hepatob...

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