Causes of Foetal Echogenic Bowel in Pregnancy in Relation to Cystic Fibrosis Essay

In days gone by, around the ’50s, children that were affected by this disease didn’t live to see the school, but today due to the great advancement on the Medical side, people live much longer because of 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. Causes of Foetal Echogenic Bowel in Pregnancy in Relation to Cystic Fibrosis Essay.

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 by it. On 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.

Genes are the blueprints for making a 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”.

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.

To evaluate how foetal magnetic resonance imaging (MRI) may change the diagnosis in cases of ultrasound (U/S) findings of echogenic bowel (EB). Seventeen foetuses with EB underwent serial U/S examinations, foetal MRI, cystic fibrosis screening and maternal viral serologic tests. MRI protocol included T2-weighted half-Fourier acquired single-shot turbo spin-echo (HASTE) sequence and gradient echo (GE) T1-weighted images. Foetal abdominal MRI analyzed patterns were size and signal of small bowel, colon and rectum, ascites and abdominal mass. All neonates had complete clinical examination, abdominal sonography, and a 6 months clinical follow-up. Eleven foetuses with isolated EB had normal MRI and normal outcome. In comparison, all the 6 foetuses whose U/S patterns showed associated signs had abnormal MRI (p < 0.001). Five had proven pathology (83.3%: 5/6) and only 1 (16.7%: 1/6) had no proven pathology and normal postnatal outcome (p = 0.001).  Causes of Foetal Echogenic Bowel in Pregnancy in Relation to Cystic Fibrosis Essay.For those five, foetal MRI showed bowel abnormalities with one case of bowel duplication and four cases of bowel obstruction. Two out of the four cases of bowel obstruction were genetically diagnosed as cystic fibrosis. The two remaining cases were diagnosed as ileal atresia. MRI could provide additive information in cases of EB associated with bowel dilatation. 

ORDER A PLAGIARISM-FREE PAPER NOW

Causes of echogenic bowel

• Bleeding during the pregnancy
• Chromosome problems such as Down syndrome. The risk of Down syndrome is thought to be low when there are no additional risk factors, such as abnormal ultrasound or maternal serum screeningresults).
• Cystic fibrosis (CF). About 3 percent of babies with echogenic bowel have cystic fibrosis.
• An obstruction in the intestines. An ultrasound may also find extra amniotic fluid around the baby, extra fluid in the baby’s belly, or dilated loops of intestine.
• Infection such as cytomegalovirus and toxoplasmosis. It is not possible to identify all infections before birth.

Further testing

• You can have a more detailed ultrasound to look for other abnormalities. We usually recommend a followup ultrasound at around 32-34 weeks, to make sure the baby is growing at a normal rate.
• The maternal serum screening can assess your risk of having a baby with Down syndrome, usually performed between 15 and 20 weeks.
• An amniocentesis can diagnose a chromosome abnormality, infection, or cystic fibrosis (if we know that both parents carry the gene). Amniocentesis involves obtaining a sample of the fluid surrounding the baby, which is then used to study the fetal chromosomes. There is a small risk of miscarriage from amniocentesis.
• Cystic fibrosis carrier screening is a blood test that identifies approximately 90 percent of individuals of European descent who are carriers of CF. The test is less accurate for other ethnic groups.
• Other blood tests can find some infections. Causes of Foetal Echogenic Bowel in Pregnancy in Relation to Cystic Fibrosis Essay.