Causes of foetal echogenic bowel in pregnancy - particularly in relation to cystic fibrosis Free Essay Example, 1500 words

In many cases, there is no family history of this condition, so the birth of a child with Recessive Inheritance comes as a surprise to them. Classification of CF Mutations: According to International Classification of diseases ICD published by WHO, cystic fibrosis is categorized under Endocrine, Nutritional and Metabolic Diseases. The classification for Cystic Fibrosis is further sub divided into four parts- 1. E 84.0 CF with Pulmonary manifestations. 2. E 84.1 CF with Intestinal manifestations. 3. E 84.8 CF with other manifestations. 4. E 84.9 CF unspecified. Taking into account the current knowledge and diagnostic problems, a special group was formed to produce a new classification table suitable to the present requirements. It was decided that a diagnostic classification would be made on Clinical grounds instead of Laboratory grounds, but at the same time acknowledging the importance of identifying CFTR mutations in people possessing clinical conditions such as pancreatitis and atresia, but not all cases are CFTR related. Therefore the working group agreed to classify it as â€Å"Cystic Fibrosis and Related Disorders. † Since Cystic Fibrosis Mutations are quite common - the American College of Medical Genetics (ACMG) and the American College for Obstetrics and Gynecology recommend testing patients for 25 of the most common CF mutations. We will write a custom essay sample on Causes of foetal echogenic bowel in pregnancy - particularly in relation to cystic fibrosis or any topic specifically for you Only $17.96 $11.86/pageorder now But a cystic fibrosis test panel –DNA Direct’s recommend testing patients for 32 Mutations which include the 25 of the American College. These cover the majority of mutations in different ethnic groups – roughly around 90% of CF mutations. The 32 Mutations Covered in This Test G85E deltaI507 R553X 711+1G>T 3659delC R117H deltaF508 R560T   1078delT 3849+10kbC>T I148T V520F R1162X 1717-1G>A 3876delA R334W G542X W1282X 1898+1G>A 3905insT R347P S549N N1303K 2184delA R347H S549R 394delTT 2789+5G>A A455E G551D 621+1G>T 3120+1G>A Causes for Foetal Echogenic Bowel in pregnancy with relation to Cystic Fibrosis. Some common findings in fetal sonography are Intra-abdominal calcification and other echogenic masses. This may occur due to the liver, spleen, kidneys, gall bladder, gastro-Intestinal tract, peritoneal cavity or the adrenal glands. Though no added risk is applied to the neonate or fetus, yet if such lesions are discovered, a prompt and detailed survey and review of maternal history should be done to further investigate the case. The diagnosis and result in most cases are determined by a combination of specific ultrasound appearances and at least one fetal or maternal factor.