2. Post-Natal Molecular Diagnosis of Inherited Diseases
نویسندگان
چکیده
Molecular diagnostics is a discipline that combines laboratory medicine with the knowledge and technology of molecular genetics. Its aim is to provide a sensitive alternative to protein-based current methodologies by developing DNA/RNA-based analytical methods for monitoring human pathologies. This is accomplished by the identification of the disease-causing mutations which may be both known or unknown.
منابع مشابه
Prenatal diagnostic methods
Prenatal Diagnosis is the most reliable way of preventing genetic diseases that has been implicated in many countries and has prevented the birth of newborns with different hereditary, congenital and genetic diseases during the past few years. Prenatal diagnosis is actually the use of various diagnostic methods to check the condition of the fetus during pregnancy, because postnatal genetic diso...
متن کاملPrevalence and effective factors on post-natal depression women in Garmsar, Iran
Background and aims: Depression is an affective (mood) disorder accompanied by the sense of disappointment, incompetence, sense of transgression, fear and sense of humility. Depression is the daily depressed-mood for two weeks. The aim of this study is analysis of the prevalence and effective factors on post-natal depression in women referring to Garmsar city health centers in ...
متن کاملFrequency of Medical Futility and its Costs in Deceased Neonates with a Probable Diagnosis of Inherited Metabolic Disorder in Children’s Medical Center, Iran
Background and purpose: Futile medical care is referred to any medical intervention or activity that bring no benefit to patients. The aim of this study was to evaluate the frequency of futile treatment and its cost in neonates with a probable diagnosis of inherited metabolic disorder. Materials and methods: In this cross-sectional study, hospitalization records of all admitted neonates in Chi...
متن کاملChallenges in the prenatal and post-natal diagnosis of mediastinal cystic hygroma: a case report
INTRODUCTION Cystic hygroma is a benign congenital neoplasm that mostly presents as a soft-tissue mass in the posterior triangle of the neck. Pure mediastinal lesions are uncommon; the vast majority are asymptomatic and are an incidental finding in adulthood. The diagnosis is often made intra- or postoperatively. Prenatal identification is exceptional and post-natal diagnosis also proves challe...
متن کاملFoetal and neonatal alloimmune thrombocytopaenia
Foetal/neonatal alloimmune thrombocytopaenia (NAIT) results from maternal alloimmunisation against foetal platelet antigens inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopaenia in otherwise healthy newborns. The incidence has been estimated at 1/800 to 1/1000 live births. NAIT has been considered to be the platelet...
متن کامل