Results 71 to 80 of about 2,740 (178)

Diagnóstico pré-natal das genodermatoses Prenatal diagnosis of genodermatoses

Anais Brasileiros de Dermatologia, 2007
O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana
Maria Carolina de Abreu Sampaio, Zilda Najjar Prado de Oliveira, Javier Miguelez   +2 more
doaj   +1 more source

Complicações materno-fetais da biópsia de vilo corial: experiência de um centro especializado do Nordeste do Brasil Fetal and maternal complications of chorionic villus sampling: results from a specialized center in the Northeast of Brazil

Revista Brasileira de Ginecologia e Obstetrícia, 2007
OBJETIVO: avaliar complicações maternas e fetais após realização de biópsia de vilo corial (BVC) para diagnóstico pré-natal de alterações genéticas, na cidade de Salvador (BA).
Antonio Carlos Vieira Lopes, Kleber Pimentel, Alessandro de Moura Almeida, Eduardo Costa Matos, Maria Betânia Pereira Toralles   +4 more
doaj   +1 more source

Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases

Molecular Cytogenetics
Mosaic chromosomal anomalies arising in the product of conception and the final fetal chromosomal arrangement are expression of complex biological mechanisms. The rescue of unbalanced chromosome with selection of the most viable cell line/s in the embryo
Giulia Vitetta, Laura Desiderio, Ilaria Baccolini, Vera Uliana, Giulia Lanzoni, Tullio Ghi, Gianluigi Pilu, Enrico Ambrosini, Patrizia Caggiati, Valeria Barili, Anna Carmela Trotta, Maria Rosaria Liuti, Elisabetta Malpezzi, Maria Carla Pittalis, Antonio Percesepe   +14 more
doaj   +1 more source

Components of an effective large scale program for the prevention of inherited hemoglobin disorders; the paradigm of Greece

Thalassemia Reports, 2012
Large scale prevention programs for Thalassemia major or Sickle cell disease have already been set up in several places with high frequency of the deleterious genes.
D. Loukopoulos, E. Voskaridou, M. Tsalkani   +2 more
doaj   +1 more source

Prenatal Diagnosis of β Thalassaemia Tazeen Anwar*,

Journal of Rawalpindi Medical College, 2014
Background: To study the effectiveness of choronic villous sampling, followed by molecular analysis, for prenatal diagnosis of β thalassaemia Methods: In this descriptive study 116 high risk mothers with 12-16 weeks of pregnancy, underwent choronic ...
Tazeen Anwar
doaj  

Concomitant omphalocele, craniorachischisis and ectopic cordis associated with trisomy 18 diagnosed in first trimester

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present a rare case of trisomy 18 of maternal origin in a pregnancy with omphalocele, craniorachischisis, and ectopia cordis. Case report: A 38-year-old woman, G3P1A1, was diagnosed with fetal anencephaly, an extrathoracic heart (ectopic ...
Yen-Ting Pan, Chih-Ping Chen, Jian-Pei Huang, Liang-Kai Wang, Fang-Tzu Wu, Schu-Rern Chern, Chen-Chi Lee, Wayseen Wang   +7 more
doaj   +1 more source

Development of Noninvasive Autosomal Recessive Disease Testing in the Saudi Arabian Population

Journal of Disability Research
Early diagnosis of prenatal complications, particularly genetic disorders, can enable early intervention and improve outcomes for both mother and infant.
Malak Abedalthagafi, Eissa Faqeih, Nouf Alajaji, Shahad Bawazeer, Ebtihal AlSolme   +4 more
doaj   +1 more source

Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma

The Application of Clinical Genetics, 2014
Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David-Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,71Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Laval ...
Gekas J, Langlois S, Ravitsky V, Audibert F, van den Berg D, Haidar H, Rousseau F   +6 more
doaj  

Presencia de alteraciones histopatológicas en vellosidades placentarias normales en Maracay (Venezuela) The presence of hystopathological alterations in normal placental villi in Maracay, Venezuela

Revista Colombiana de Obstetricia y Ginecología, 2009
Objetivo: determinar la proporción de las alteraciones histopatológicas en las vellosidades y en el espacio intervelloso obtenida de cuatro placentas normales del último trimestre del embarazo. Metodología: por medio de la microscopía de luz y la tinción
Olivar C Castejón-S, Ángela J López-G, Luis M Pérez-Ybarra   +2 more
doaj  

Placental mosaicism in prenatal diagnosis. [PDF]

Med Genet
Döttelmayer P, Fauth C.
europepmc   +1 more source