First-trimester prenatal diagnosis of Ellis–van Creveld syndrome
نویسندگان
چکیده
منابع مشابه
First trimester prenatal diagnosis of Menkes disease by DNA analysis.
Menkes disease is an X linked recessive disorder of copper metabolism characterised by neurological symptoms and connective tissue manifestations. The defective gene in Menkes disease has recently been isolated and the gene product is predicted to be a copper transporting ATPase. The diagnosis of Menkes disease has hitherto been performed by biochemical analysis, based on intracellular accumula...
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Acute primary maternal infection with rubella virus during pregnancy often, but not invariably, leads to the congenital rubella syndrome. Diagnosis by detection of virus specific IgM in the mother is not always possible, and in those cases in which IgM is detected the fetus has not necessarily also been infected. A method for direct, prenatal detection of fetal infection would allow more accura...
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In the past few years considerable attention has been given to a relatively new method of prenatal diagnosis known as chorionic villus sampling (CVS). Because CVS can be performed in the first trimester it is hailed by many as a significant advance over amniocentesis. What has not been as publicized, however, are the disadvantages of CVS and earlier prenatal diagnosis. The emotional costs of CV...
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Meckel Gruber syndrome was originally described by Meckel in 1822, later by Gruber and more recently by Opitz and Howe.1 It is a lethal autosomal recessive disorder characterized by the triad of encephalocele, polycystic kidneys and polydactyly. Prenatal ultrasonographic diagnosis of this condition has been reported extensively during the second and third trimeter. In the low risk population th...
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ژورنال
عنوان ژورنال: Taiwanese Journal of Obstetrics and Gynecology
سال: 2012
ISSN: 1028-4559
DOI: 10.1016/j.tjog.2012.10.001