Causes of Foetal Echogenic Bowel in Pregnancy in Relation to Cystic Fibrosis - Coursework Example

Cystic Fibrosis Cystic Fibrosis or CF is a chronic disease of the lungs and digestive system. Approximately around 70,000 people world wide suffer from this complaint. It not only affects adults but children too. This is a life threatening disease for which a cure has not yet been found, but the symptoms could be treated and kept under control to a certain extent. This condition arises when a defective gene causes the body to produce thick sticky mucus that…. Leads to life threatening lung infections because it clogs the lungs. Stops the natural enzymes from helping the body to break down and absorb food since it obstructs the pancreas. In days gone by, around the 50’s, children that were affected by this disease didn’t live to see school, but today due to the great advancement on the Medical side, people live much longer because good treatment of this disease is readily available. People suffering from Cystic Fibrosis are unable to keep a check on their salt and sugar levels in their bodies. That is why the fluids in their bodies are unusually thicker than normal people. When they sweat they give out excess salt. This is because they do not have a gene that makes a protein to control their salt levels. Doctors use the “salt test” to diagnose patients with CF. The Symptoms of Cystic Fibrosis— Skin is salty to taste Phlegm due to persistent cough Constant lung infections Shortness of breath and wheezing Poor growth in height and weight in spite of having a good appetite Stools that is bulky and greasy. Recessive Inheritance : If both parents carry a genetic condition with a pattern of Recessive Inheritance, then there is all the more chance that the child born to such a couple will definitely be affected with it. On an average, about a quarter of the children will be affected. In some cases, the children will be carriers like the parents but still remain unaffected – but this is only a one-in-two chance. Some examples of this kind of genetic pattern of Recessive Inheritance are – 1. Cystic Fibrosis 2. Sickle-cell disease 3. Tay –Sachs disease 4. Phenylketoneuria Genes are the blueprints for making protein that our body needs to function and develop in the proper manner. Genes come in pairs- one from the mother and one from the father. If a gene undergoes a mutation, it ceases to function properly. We inherit mutations in genes from our biological parents. One such basic pattern of inheritance is called “Autosomal Recessive Inheritance”. Autosomal Recessive Inheritance : By Autosomal Recessive Inheritance it is meant that the gene carrying the mutation is located in one of the chromosome pairs -1 through 22 (autosomes) This again means that the male and female are equally affected. In order for a person to have this condition, both the copies of the gene should have had a mutation. One copy of the mutation is inherited from the father and the other one from the mother. A person who is said to be just a “carrier of this trait or disease, does not have any health problems because they have only one gene mutation. In most cases, they do not even know they are carrying a recessive gene mutation, until they get a child with the disease. There is a twenty- five percent chance that subsequent children in the family would have the same disorder. 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 “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. 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. Expectant management is sufficient in most cases, but some patients need to be transferred to a facility where early post natal care is readily available, in order to rule out complications later. Echogenic bowel is a common echogenic mass in the abdomin of the fetus. In order to ensure that it is really an echogenic bowel, it should be bright as bright as the adjacent bone. It is predominantly found in lower fetal abdomin and the pelvis, with well defined lesions that do not shadow. Approximately 50% of such cases of isolated echogenic bowel the appearance gets resolved over time. If high-frequency transducers are used, it can increase the findings of an echogenic bowel. When echogenic bowel is detected, the transducer frequency should be checked, the adjacent bone should be looked into and the gestational age should also be checked. Once you are sure that it is an echogenic bowel,in a second or third trimester, a series of different diagnostic considerations should be undertaken. These include cystic fibrosis, chromosomonal abnormalities, congenital infection and intra-amniotic bleeding. When there is intra-amniotic bleeding and subsequent swallowing of blood by the fetus, then it is echogenic bowel. In order to asses this condition, check the amniotic fluid debris and the echogenic material in the stomach. When amniotic fluid is taken, an extra 3ml should be withdrawn to be used for testing for infection such as cytomegalovirus. Follow with ultrasound if results prove negative because echogenic bowel may be associated with intra-uterine growth restriction. Gastric Pseudomas : The fetal stomach appears anechoic or rounded in the upper left quadrant. This debris in the stomach is referred to as Pseudomass. This mass may be due to the swallowed cells that multiply due to poor peristaltic activity in the stomach during the second trimester. When amniotic bleeding has occurred, the pseudomasses are easily visualized, but they are not associated with any adverse neonatal outcome. Abdominal Calcifications : Abdominal calcifications can take place in the fetal abdomen or in the liver. When evaluating the fetal abdomen for meconium peritonitis, the following should be documented – the size, site, location of calcification, bowel loops etc. Parental cystic fibrosis gene carrier status should be assessed. In this test parental blood should undergo the 25 most common alleles associated with cystic fibrosis. If peritoneal calcifications are found in conjunction with other findings, surgery is often indicated. Liver Calcifications : This is a common finding. Calcification of the liver may be single or multiple. The echogenic lesions that punctuate the liver may be due to peritoneal calcifications, but the isolated subcapsular calcifications could be largely due to the emboli from the hepatic veins or from the portal. In such cases no underlying abnormalities are detected. Calcified masses of liver are suspected to be malignant. These tumors are quite rare- eg. Hepatoblastoma which usually occurs in the Adrenal glands. Fetal Gall stones : After 28 weeks gestation period, gall stones and gall bladder sludge is recorded. The causes for fetal gall stones include hemolytic disease, cholestasis and maternal drug use. No associated fetal abnormalities are reported. In most cases the stones resolve before or right after delivery because of alterations in the bile metabolism. Generally fetal gall stones are incidental findings during the third trimester and a single post natal check could be done to confirm results, without further investigations. Conclusion : Echogenic lesions in the fetal abdomen are common and most of them do not carry added risk to the fetus or neonate. In order to identify such lesions the fetal abdomen should be promptly examined. Maternal history should also be thoroughly reviewed in detail. A strong diagnosis can be arrived at with careful evaluation of lesions echotexture, related calcifications, subsequent findings and gradual evolution over time. Most of the cases require expectant management but other cases require a facility for appropriate post natal examination. References : www.sciencemuseum.org.uk/exhibitions/genes/222.asp www.healthsystem.virgnia.edu/UVAHealth/hub_cancer/ari.cfm.au/factsheet/06.htm www.genetics.com/geneinfo/concepts/inheritedfr.html www.cff.org/ Fibroidspregnancy.vastle.com For classification cfww.org/WHO/WHO/%20report%20classification%20of20CF%20and%20related%20disorders.pdf For all diagrams www.rsna.org/education/rg_cme.html Read More