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<oai_dc:dc xmlns:dc='http://purl.org/dc/elements/1.1/' xmlns:oai_dc='http://www.openarchives.org/OAI/2.0/oai_dc/' xmlns:xsi='http://www.w3.org/2001/XMLSchema-instance' xsi:schemaLocation='http://www.openarchives.org/OAI/2.0/oai_dc/ http://www.openarchives.org/OAI/2.0/oai_dc.xsd'>
<dc:creator>Grosu, I.I.</dc:creator>
<dc:creator>Scurtu, V.</dc:creator>
<dc:creator>Strătilă, R.</dc:creator>
<dc:creator>Sacară, V.C.</dc:creator>
<dc:date>2014-10-01</dc:date>
<dc:description xml:lang='en'>Introduction. Severity of hereditary diseases is already well known throughout the world. The monitoring and prevention of hereditary diseases are the current tasks of medical genetics and health. Prenatal diagnosis (PD) is one of the methods proposed to prevent the birth of children with congenital malformations incorrigible, monogenic and chromosomal pathologies. Muscular dystrophy Duchenne / Becker and spinal muscular atrophy are neuromusular hereditary X-linked and respectively autosomal recessive disorders and that are frequently encountered in Moldova and can be detected through prenatal diagnosis. Materials and methods. The research was held in the scientific department of the Centre for Reproductive Health and Medical Genetics, Laboratory of Human Molecular Genetics. After medico-genetic consultation pregnant women who are at risk of having a pregnancy affected by a hereditary disease, namely Duchenne and Becker muscular dystrophy (DMD/B) and spinal muscular atrophy (SMA) undergo prenatal diagnosis (PD), which Moldova is achieved by methods such as multiplex PCR, PCR / RFLP, the primer sets specific and polymorphic sites. Purpose. Purpose of the work is to present data of prenatal diagnosis of neuromuscular disorders with high frequency in Moldova during the last four years. Results. In total were performed 14 prenatal diagnoses: 9 - DMD/B and 5 for SMA during 2011-2014. Making the prenatal diagnosis of DMD/B and SMA has allowed the direct analysis of deletions or RFLP test and were detected 4 affected fetuses, 3 of them were with DMD / B and 1 with SMA. Have been analyzed the strategies for prenatal diagnosis of these diseases in different countries and methods of them. Conclusions. Prenatal diagnosis is an important strategy and an effective way to prevent the birth of children with hereditary monogene diseases in families at risk. This strategy applies to all populations, but with different methodologies. The methods of modern molecular genetic prenatal diagnosis raise the efficiency and precision to 98%. Efficiency of prenatal diagnosis in Moldova is 71,4%. Analyzing different diagnostic methods used in the world was proposed the method which will be better implemented in Moldova. </dc:description>
<dc:description xml:lang='ru'>Пренатальная диагностика является важной стратегией и эффективным способом предотвратить рождение детей с наследственными моногенными заболеваниями. Стратегия ПД применяется во многих популяциях, но с использованием различных методов. Применение молекулярно-генетических методов при современной ПД повышает эффективность и точность до 98% по данным литературы, но эффективность ПД в РМ составляет 71,4%. Предложены современные молекулярно-генетические методы ПД, которые повысят эффективность и точность ПД</dc:description>
<dc:source>Buletin de Perinatologie 63 (3) 8-13</dc:source>
<dc:subject>prenatal diagnosis</dc:subject>
<dc:subject>PCR/RFLP</dc:subject>
<dc:subject>MPCR</dc:subject>
<dc:subject>markers</dc:subject>
<dc:subject>linkage</dc:subject>
<dc:subject>muscular dystrophy Duchenne/Becker</dc:subject>
<dc:subject>spinal muscular atrophy SMA</dc:subject>
<dc:subject>carrier</dc:subject>
<dc:subject>pregnancy</dc:subject>
<dc:subject>Strategies</dc:subject>
<dc:subject>methods.</dc:subject>
<dc:title>Diagnosticul prenatal al distrofiei musculare Duchenne şi atrofiei musculare spinale pe parcursul a 4 ani şi eficacitatea metodologiilor de diagnostic existente în Republica Moldova
</dc:title>
<dc:type>info:eu-repo/semantics/article</dc:type>
</oai_dc:dc>