{"id":11797,"date":"2025-01-05T21:42:31","date_gmt":"2025-01-05T21:42:31","guid":{"rendered":"https:\/\/nurs.essaybishops.com\/cystic-fibrosis-newborn-screening\/"},"modified":"2025-01-05T21:42:31","modified_gmt":"2025-01-05T21:42:31","slug":"cystic-fibrosis-newborn-screening","status":"publish","type":"post","link":"https:\/\/homeworkacetutors.com\/nursing\/cystic-fibrosis-newborn-screening\/","title":{"rendered":"Cystic Fibrosis Newborn Screening"},"content":{"rendered":"
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Cystic fibrosis is a common autosomal recessive genetic disorder1<\/sup>. This means that to have cystic fibrosis, a person must have inherited a defective gene from each of his or her parents2<\/sup>. This gene is located on chromosome seven2<\/sup>. Absence or mutation in this particular gene results in worse performance or absence of the Cystic Fibrosis Transmembrane Conductance Regulator2<\/sup>. This is most commonly found in Europe, North America, and Australia1<\/sup>. This gene manages anion transport and mucociliary clearance in the airways1<\/sup>. With the failure of this function, the results are mucus retention and chronic infection in the lungs1<\/sup>. Nowadays, modern technology provides aid for patients with their diseases and gives them a longer and more active life. Newborn screening for cystic fibrosis is a modern technological advance which is designed to detect early signs of cystic fibrosis.<\/p>\n

Several methods under the name of the Newborn Screening are used to detect whether a newborn has cystic fibrosis or not1<\/sup>. These methods include immunoreactive trypsinogen (IRT) testing combined with DNA mutation analysis and the sweat chloride test1<\/sup>.<\/p>\n

IRT stands for Immunoreactive Trypsinogen Test. The procedure of this test is a chemical reaction. Trypsinogen is made from the pancreas, and it normally transmits to the intestines where it is activated to a form of an enzyme called trypsin. In a patient who has cystic fibrosis, the thick mucus covers the pancreatic ducts1<\/sup>. Therefore, trypsinogen won\u2019t reach the intestines, and the amount of trypsinogen goes up. This test runs with a blood sample, and if the results come out with a normal level of trypsinogen, then this test is reliable, but if there is a high level of trypsinogen, then more tests need to be run to find out whether the patient has cystic fibrosis or not.<\/p>\n

A sweat chloride test is the amount of chloride in patient\u2019s sweat. In a patient that has Cystic Fibrosis, the sweat chloride test will result in significantly higher levels of chloride in sweat than a person that does not have cystic fibrosis due to the restricted movement of chloride.<\/p>\n

The gene mutation test is a DNA sequencing test to locate a defective gene in the chromosome. There are many different types of mutations that can cause a deficiency in the production of the CFTR protein. More than 2000 CFTR variants have been discovered1<\/sup>. About 15% of the identified gene variants are not associated with CF1<\/sup>. CFTR mutations can be classified into six classes according to their effects on protein function1<\/sup>. Classification is helpful because it relates to the molecular and cellular processes in gene translation and protein processing and has some useful clinical relations1<\/sup>. Class I, II, and III mutations are associated with no residual CFTR function and patients with these mutations on average have a severe phenotype, whereas individuals with class IV, V, and VI mutations have some residual function of CFTR protein and have a mild lung phenotype and pancreatic deficiency1<\/sup>. Today, different laboratories use a wide variety of panels depending on the patient\u2019s need, like the twenty-three panel or panel of seventy. The following is an example of a molecular CF test.<\/p>\n

Lab Corporation of America published a procedure for a Cystic Fibrosis molecular diagnostic3<\/sup>;<\/p>\n

The coding sequence of CFTR is amplified by polymerase chain reaction and each PCR product (amplicon) then sequenced bi-directionally, using Sanger sequencing methodology.<\/p>\n\n\n\n\n\n
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CFTR<\/p>\n<\/td>\n

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Chr7(q31,2)<\/p>\n<\/td>\n<\/tr>\n

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Nucleotide Change<\/p>\n<\/td>\n

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Amino Acid Change<\/p>\n<\/td>\n

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Consequencing<\/p>\n<\/td>\n

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Zygosity<\/p>\n<\/td>\n

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Relation to Cystic Fibrosis<\/p>\n<\/td>\n<\/tr>\n

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c.1327G>T<\/p>\n<\/td>\n

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p.Asp443Tyr<\/p>\n<\/td>\n

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missense mutation<\/p>\n<\/td>\n

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homozygous<\/p>\n<\/td>\n

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recessive, associated<\/p>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

1. Prof J Stuart Elbom, Cystic Fibrosis, Lancet, 19-25 November 2016, Volume 388, Issue 10059, page 2519-2531<\/p>\n

2. The Clinical and Functional Translation of CFTR(CFTR2) at Copyright 2011 US CF Foundation, John Hopkins University The Hospital for Sick Children; available at https:\/\/cftr2.org.<\/p>\n

3. Corporation of America Published Documents\u00a0 2014\u00a0 available @ http:\/\/oneworld.labcorp.com\/Billing\/TestMaster\/Resource Center\/Sample Reports\/C-4\/Cystic Fibrosis (CF) CFTR 252763.pdf<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

Cystic fibrosis is a common autosomal recessive genetic disorder1. This means that to have cystic fibrosis, a person must have inherited a defective gene from\u2026<\/p>\n","protected":false},"author":5,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3576,3575,3568,92,3178,3578,3587,3567],"tags":[3591,3592,3590,3569,3593,3589,1998,3588,3594],"class_list":["post-11797","post","type-post","status-publish","format-standard","hentry","category-health-and-social-care-essay","category-healthcare-essay-service","category-nurscribe","category-nursing","category-nursing-discussion-post-example-essay","category-sample-social-care-research-papers","category-superior-essay-papers","category-us","tag-assignment-write-a-page-essay-in-apa","tag-create-a-2-4-page-resource","tag-create-powerpoint-include-harvard-referencing","tag-help-with-nursing-discussion-board","tag-i-need-my-essay-completed-in-300-400-words","tag-in-a-4-to-6-page-essay","tag-nursing-paper","tag-superior-essay-writers","tag-week-1-discussion-post"],"_links":{"self":[{"href":"https:\/\/homeworkacetutors.com\/nursing\/wp-json\/wp\/v2\/posts\/11797","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/homeworkacetutors.com\/nursing\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/homeworkacetutors.com\/nursing\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/homeworkacetutors.com\/nursing\/wp-json\/wp\/v2\/users\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/homeworkacetutors.com\/nursing\/wp-json\/wp\/v2\/comments?post=11797"}],"version-history":[{"count":0,"href":"https:\/\/homeworkacetutors.com\/nursing\/wp-json\/wp\/v2\/posts\/11797\/revisions"}],"wp:attachment":[{"href":"https:\/\/homeworkacetutors.com\/nursing\/wp-json\/wp\/v2\/media?parent=11797"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/homeworkacetutors.com\/nursing\/wp-json\/wp\/v2\/categories?post=11797"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/homeworkacetutors.com\/nursing\/wp-json\/wp\/v2\/tags?post=11797"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}