نتایج جستجو برای: invasive prenatal diagnosis

تعداد نتایج: 621025  

2013
ARISTEIDIS G. VAIOPOULOS KALLIOPI C. ATHANASOULA NIKOLAS PAPANTONIOU AGGELIKI KOLIALEXI

The invasive procedures amniocentesis and chorionic villus sampling are routinely applied in pregnancies at risk for fetal genetic disorders and the results obtained are the gold standard for prenatal diagnosis. These procedures have an approximately 0.5-1% risk for fetal loss and are mainly used in cases at risk for fetal chromosomal abnormalities and single-gene disorders. Identification of c...

Journal: :Expert opinion on therapeutic patents 2015
Giulia Breveglieri Alessia Finotti Monica Borgatti Roberto Gambari

INTRODUCTION Biological tests and genetic analyses for diagnosis and characterization of hematological diseases in health laboratories are designed with the aim of meeting the major medical needs of hospitals and pharmaceutical companies involved in this field of applied biomedicine. Genetic testing approaches to perform diagnosis consist of molecular techniques, which should be absolutely repr...

Journal: :medical journal of islamic republic of iran 0
roya farhadi pediatric department of booali-sina hospital, mazandaran university of medical science, sari, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی مازندران (mazandaran university of medical sciences)سازمان های دیگر: booali-sina hospital seyyed habib kazemi mazandaran university of medical science, sari, iranسازمان اصلی تایید شده: دانشگاه مازندران (mazandaran university)

harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. although prenatal diagnosis is difficult for this disorder, recently, this obstacle has markedly improved with the use of dna-based prenatal diagnosis. here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology (art). in this case, the diagnosis of harlequin ichthyosis was n...

2015
Linda Maria Azzurra Pirollo Leila Baghernajad Salehi Simona Sarta Marco Cassone Maria Vittoria Capogna Emilio Piccione Giuseppe Novelli Adalgisa Pietropolli

Pentasomy X is a rare chromosomal abnormality probably due to a nondisjunction during the meiosis. Only four cases prenatally diagnosed were described until now. Our case is the fifth one prenatally diagnosed at 20 weeks of gestational age in a 39-years-old woman. She underwent invasive prenatal diagnosis for her advanced maternal age without any other known risk factor. Amniocentesis performed...

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