Carrier Screening (carrier + screening)

Distribution by Scientific Domains

Selected Abstracts

Population-based carrier screening for cystic fibrosis in Victoria: The first three years experience

Background: Cystic fibrosis (CF) is the most common inherited, life-shortening condition affecting Australian children. The carrier frequency is one per 25 and most babies with CF are born to parents with no family history. Carrier testing is possible before a couple has an affected infant. Aims:, To report the outcomes of a carrier screening program for CF. Method: Carrier screening was offered to women and couples planning a pregnancy, or in early pregnancy, through obstetricians and general practitioners in Victoria, Australia. Samples were collected by cheek swab and posted to the laboratory. Twelve CFTR gene mutations were tested. Carriers were offered genetic counselling and partner testing. Carrier couples were offered prenatal testing by chorionic villous sampling (CVS) if pregnant. The number of people tested, carriers detected and pregnancy outcomes were recorded from January 2006 to December 2008. Results: A total of 3200 individuals were screened (3000 females). One hundred and six carriers were identified (one per 30, 95% confidence interval one per 25, one per 36). All carrier partners were screened, and nine carrier couples identified (total carriers 115). Ninety-six individuals (83%) were carriers of the p.508del mutation. Of the nine carrier couples, six were pregnant at the time of screening (five natural conception and one in vitro fertilisation) and all had CVS (mean gestation 12.5 weeks). Two fetuses were affected, three were carriers and one was not a carrier. Termination of pregnancy was undertaken for the affected fetuses. Conclusion: Carrier screening for CF by obstetricians and general practitioners by cheek swab sample can be successfully undertaken prior to pregnancy or in the early stages of pregnancy. [source]

,-thalassaemia carrier detection by ELISA: A simple screening strategy for developing countries

M. Shyla Ravindran
Abstract The frequency of ,-thalassaemia in India ranges from 3.5% to 15% in the general population and of the 100,000 children born with thalassaemia major in the world, 10,000 are in India alone. Affected children do not die immediately, but treatment by regular transfusion is costly and leads to iron overload and death. Therefore, health services in lower-economic countries can sustain patients only if the numbers can be limited. Detecting carrier couples by simple blood test can prevent thalassaemia and at-risk couples can be identified and informed of their genetic risk before having children. A prevention programme including population screening, counselling, and prenatal diagnosis will markedly reduce the birth prevalence of affected individuals. Hemoglobin A2 (HbA2) measurement in human hemolysates has great significance, since its level can indicate ,-thalassaemia carrier status in otherwise healthy individuals. We have developed a rapid, simple, and inexpensive enzyme linked immunosorbent assay (ELISA) for the quantitation of HbA2, which can be used in carrier screening programmes in developing countries like India. In a limited trial for ,-thalassaemia carrier screening, the results obtained with ELISAs were compared with those obtained with the microcolumn chromatography method (r=0.89). J. Clin. Lab. Anal. 19:22,25, 2005. 2005 Wiley-Liss, Inc. [source]

Severe ,0 thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of , globin gene

Ponlapat Rojnuckarin
Abstract , Thalassemia is a major public health concern in Southeast Asia. A prevention program has been implemented in Thailand comprising mass carrier screening and genetic testing. In this study, a Thai girl with severe , thalassemia/hemoglobin (Hb) E disease was born from the mother with Hb E trait and the genotypically normal father. DNA sequencing revealed novel 22-bp tandem duplication in the paternal allele of , globin gene, producing a severely truncated product. A short recurring nucleotide at the insertion site suggested a predisposition to this mutation. Therefore, spontaneous , globin mutations occasionally occur in normal population. Its clinical significance is noteworthy in countries with high prevalence of , thalassemia. Am. J. Hematol 2007. 2006 Wiley-Liss, Inc. [source]

Moving up the slippery slope: Mandated genetic screening on Cyprus,

Ruth Schwartz Cowan
Abstract Many social scientists and bioethicists have argued that genetic screening is a new form of eugenics. Examination of the development of the quasi-mandated screening program for ,-thalassemia in the Republic of Cyprus (1970,1984) demonstrates that there is nothing eugenic about modern genetic screening practices. The Cypriot screening program involves mandated premarital carrier screening, voluntary prenatal diagnosis (originally through fetoscopy, now through CVS), and voluntary termination of afflicted pregnancies,all at public expense. In the Republic of Cyprus, the mandating agency for genetic screening is the established church, so this examination also demonstrates that religious authorities with profound objections to abortion can balance that moral precept against others, such as the imperative to reduce suffering that sometimes conflict with it. 2009 Wiley-Liss, Inc. [source]

Informing policy for the Australian context , Costs, outcomes and cost savings of prenatal carrier screening for cystic fibrosis

Susannah MAXWELL
Aims:, To examine the costs, outcomes and cost savings of three models of prenatal cystic fibrosis (CF) carrier screening compared to no screening from a public health sector perspective. Methods:, A decision tree was generated to estimate costs and outcomes for each screening model for a hypothetical cohort of 38 000 pregnancies. Sensitivity analysis assessed the impact of model parameter variation. Results:, Under baseline assumptions, the initial annual cost to provide a prenatal CF carrier-screening programme is Au$5.32 million, Au$3.35 million and $2.93 million for one-step, two-step simultaneous and two-step sequential screening respectively. Annual costs are significantly lower for an established programme. No screening model provides a net saving over a lifetime horizon; however, the results were sensitive to variation in lifetime cost of care, screening test costs and number of pregnancies per carrier couple. Conclusions:, Under some scenarios, prenatal CF carrier screening is cost saving to the health system; however, this is not conclusive and depends on several factors. Cost remains a potential barrier due to the substantial level of funding required in the short term. Feasibility and psychosocial, ethical and legal implications of screening need to be considered. Additionally, consultation is required with the Australian community on the acceptability and/or desire for prenatal CF carrier screening. [source]

Laboratory tools and strategies for methicillin-resistant Staphylococcus aureus screening, surveillance and typing: state of the art and unmet needs

M. J. Struelens
Abstract The public health burden caused by methicillin-resistant Staphylococcus aureus (MRSA) infections is now widely recognized, and is a cause of public alarm. Effective MRSA risk management in the healthcare system as well as in the community should rely on accurate detection of reservoirs and sources of transmission, as well as on close monitoring of the impact of interventions on disease incidence and bacterial dissemination. MRSA carrier screening and disease surveillance, coupled with molecular typing, are key information tools for integrated MRSA control and individual risk assessment. These tools should be tailored to the distinct needs of local interventions and national prevention programmes. Surveillance schemes should primarily inform local staff and serve as quality assurance about MRSA risk management. New technologies, including the use of selective culture media and real-time PCR assays, allow faster detection of MRSA carriers upon admission or during stay in healthcare institutions. More research is needed to ascertain their cost-effectiveness for MRSA control. Likewise, tremendous progress has been made concerning molecular typing methods, with optimization and standardization of sequence-based technologies offering broad applicability and high throughput. However, no single S. aureus typing method is yet providing fully reliable information within the range of discrimination needed for public health action. Further refinement of genotyping methods and international harmonization of surveillance and typing schemes must be achieved to facilitate global MRSA control. [source]