* Blood Screening – normally screening of new born infant where a small amount of blood is taken from the heel of the infant and transferred on to a card where the laboratory will test for any inherited conditions such as PKU.
* Stool Screening – the procedure checks the pancreatic enzyme levels. If levels are low stools will be checked
for digestive enzymes known as trypsin and chymotrypsin, which may be decreased or absent from the sample.
* Cell screening – Cells may be taken from the inside of a person cheeks to see if they are carriers of cystic fibrosis.
* Amniocentesis – Involves the use of an ultrasound scan to detect the foetus. A hypodermic syringe is carefully inserted to the amniotic fluid to with draw a sample, without causing any damage to the placenta. The sample is taken between 13-16 weeks of pregnacy.
* Chorionic Villus Sampling – involves a higher risk as a procedure where the sample of the chorionic villi of the placenta, which takes place between 9 – 12 weeks of the pregnancy. This carries higher risk of a miscarriage.
What is the genetic cause for Cystic Fibrosis?
Cystic fibrosis is a fatal autosomal recessive genetic disorder occurring in all cells of the body. Recessive disorders occur as both sets of the allele are damaged. The gene codes for a protein known as Cystic Fibrosis Transmembrane Regulator (CFTR) which is located on chromosome 7.CFTR codes for a protein which is inserted in to the membranes of cells that line the inner surface of organs that form channels which regulate the movement of salt and water in and out of the cells. CFTR protein is classified as an ABC (ATP – bundling cassette) transporter or traffic ATPase. CFTR will transport chlorine ions across cell membranes. This gene mutation is unable to control sodium and chloride with in the cells. The DNA sequence will have a...