Detection of Duchenne muscular dystrophy gene products in amniotic fluid and chorionic villus sampling cells

Detection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA

Background Duchenne Muscular Dystrophy (DMD) is a deadly X-linked recessive disorder. This genetic disorder affects 1 among 3,500-5,000 males in the world. The majority of the patients are male, due to the type of inheritance. It affects most of the skeletal, the respiratory, and cardiac muscles, causing these vital organs to contract and eventually mortality.<br...

Chorionic villus sampling

Chorionic villus sampling has gained importance as a tool for early cytogenetic diagnosis with a shift toward first trimester screening. First trimester screening using nuchal translucency and biomarkers is effective for screening. Chorionic villus sampling generally is performed at 10-12 weeks by either the transcervical or transabdominal approach. There are two methods of analysis; the direct...

Chorionic Villus Sampling

Chorionic villus sampling (CVS) is a test used for prenatal diagnosis [5]. Safe to perform at an earlier stage in pregnancy [6] than amniocentesis, CVS is another invasive prenatal diagnostic test that can be performed as early as ten weeks after the woman?s last menstrual cycle. While this test does carry some risks, it is generally very effective at predicting heritable diseases during or soo...

Comparison of Complications of Chorionic Villus Sampling and Amniocentesis

Chorionic Villus Sampling

Chorionic villus sampling (CVS) is a test used for prenatal diagnosis [5]. Safe to perform at an earlier stage in pregnancy [6] than amniocentesis, CVS is another invasive prenatal diagnostic test that can be performed as early as ten weeks after the woman?s last menstrual cycle. While this test does carry some risks, it is generally very effective at predicting heritable diseases during or soo...