Sickle-cell disease screening: Difference between revisions
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==Screening of carriers== | ==Screening of carriers== | ||
Screening for sickle cell disease was first offered in 1975 but had not been performed routinely.<ref name="pmid26139766">{{cite journal| author=Colah RB, Mukherjee MB, Martin S, Ghosh K| title=Sickle cell disease in tribal populations in India. | journal=Indian J Med Res | year= 2015 | volume= 141 | issue= 5 | pages= 509-15 | pmid=26139766 | doi= | pmc=4510747 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26139766 }} </ref> People who are known carriers of the disease often undergo [[genetic counseling]] before they have a child. A test to see if an unborn child has the disease takes either a [[blood]] sample from the unborn or a sample of [[amniotic fluid]]. Since taking a blood sample from a fetus has risks, the latter test is usually used. Currently, all 50 states in the USA require newborn screening for sickle cell disease.<ref name="pmid21927581">{{cite journal| author=Brandow AM, Liem R| title="Sickle Cell Disease in the Emergency Department: Atypical Complications and Management" | journal=Clin Pediatr Emerg Med | year= 2011 | volume= 12 | issue= 3 | pages= 202-212 | pmid=21927581 | doi=10.1016/j.cpem.2011.07.003 | pmc=3172721 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21927581 }} </ref> | Screening for sickle cell disease was first offered in 1975 but had not been performed routinely.<ref name="pmid26139766">{{cite journal| author=Colah RB, Mukherjee MB, Martin S, Ghosh K| title=Sickle cell disease in tribal populations in India. | journal=Indian J Med Res | year= 2015 | volume= 141 | issue= 5 | pages= 509-15 | pmid=26139766 | doi= | pmc=4510747 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26139766 }} </ref> After the mutation responsible for this disease was discovered in 1979, the U.S. Air Force required African American applicants to test for the mutation. It dismissed 143 applicants because they were carriers, even though none of them had the condition. It eventually withdrew the requirement, but only after a trainee filed a lawsuit. By the 1980s, most states were performing newborn screening, based on evidence showing that early administration of antibiotics in patients with known sickle cell disease improved outcomes.<ref name="pmid21709145">{{cite journal| author=Burke W, Tarini B, Press NA, Evans JP| title=Genetic screening. | journal=Epidemiol Rev | year= 2011 | volume= 33 | issue= | pages= 148-64 | pmid=21709145 | doi=10.1093/epirev/mxr008 | pmc=3166195 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21709145 }} </ref> People who are known carriers of the disease often undergo [[genetic counseling]] before they have a child. A test to see if an unborn child has the disease takes either a [[blood]] sample from the unborn or a sample of [[amniotic fluid]]. Since taking a blood sample from a fetus has risks, the latter test is usually used. Currently, all 50 states in the USA require newborn screening for sickle cell disease.<ref name="pmid21927581">{{cite journal| author=Brandow AM, Liem R| title="Sickle Cell Disease in the Emergency Department: Atypical Complications and Management" | journal=Clin Pediatr Emerg Med | year= 2011 | volume= 12 | issue= 3 | pages= 202-212 | pmid=21927581 | doi=10.1016/j.cpem.2011.07.003 | pmc=3172721 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21927581 }} </ref> | ||
Other diseases for which newborn screening occurs include cystic fibrosis, congenital hypothyroidism, and phenylketonuria.<ref name="pmid21709145">{{cite journal| author=Burke W, Tarini B, Press NA, Evans JP| title=Genetic screening. | journal=Epidemiol Rev | year= 2011 | volume= 33 | issue= | pages= 148-64 | pmid=21709145 | doi=10.1093/epirev/mxr008 | pmc=3166195 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21709145 }} </ref> These are diseases in which newborn screening provides a small mortality benefit, and the benefits thus outweigh the risks. | |||
It is important to note that there can be false-positive and false-negative results with newborn screening. This may cause overdiagnosis or underdiagnosis, respectively, of sickle cell disease. Such false results can be prevented with improved technologies in the future. | |||
==References== | ==References== | ||
Revision as of 00:41, 28 August 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]
Overview
Sickle cell disease is currently a disease for which newborn screening is available, mandated, and routinely performed in the United States.
Screening of carriers
Screening for sickle cell disease was first offered in 1975 but had not been performed routinely.[1] After the mutation responsible for this disease was discovered in 1979, the U.S. Air Force required African American applicants to test for the mutation. It dismissed 143 applicants because they were carriers, even though none of them had the condition. It eventually withdrew the requirement, but only after a trainee filed a lawsuit. By the 1980s, most states were performing newborn screening, based on evidence showing that early administration of antibiotics in patients with known sickle cell disease improved outcomes.[2] People who are known carriers of the disease often undergo genetic counseling before they have a child. A test to see if an unborn child has the disease takes either a blood sample from the unborn or a sample of amniotic fluid. Since taking a blood sample from a fetus has risks, the latter test is usually used. Currently, all 50 states in the USA require newborn screening for sickle cell disease.[3]
Other diseases for which newborn screening occurs include cystic fibrosis, congenital hypothyroidism, and phenylketonuria.[2] These are diseases in which newborn screening provides a small mortality benefit, and the benefits thus outweigh the risks.
It is important to note that there can be false-positive and false-negative results with newborn screening. This may cause overdiagnosis or underdiagnosis, respectively, of sickle cell disease. Such false results can be prevented with improved technologies in the future.
References
- ↑ Colah RB, Mukherjee MB, Martin S, Ghosh K (2015). "Sickle cell disease in tribal populations in India". Indian J Med Res. 141 (5): 509–15. PMC 4510747. PMID 26139766.
- ↑ 2.0 2.1 Burke W, Tarini B, Press NA, Evans JP (2011). "Genetic screening". Epidemiol Rev. 33: 148–64. doi:10.1093/epirev/mxr008. PMC 3166195. PMID 21709145.
- ↑ Brandow AM, Liem R (2011). ""Sickle Cell Disease in the Emergency Department: Atypical Complications and Management"". Clin Pediatr Emerg Med. 12 (3): 202–212. doi:10.1016/j.cpem.2011.07.003. PMC 3172721. PMID 21927581.