A survey of newborn screening for cystic fibrosis in Europe

Southern, Kevin W; Munck, À.; Pollitt, R. J.; Travert, G; Zanolla, Luisa; Dankert-Roelse, J.E.; Castellani, Carlo

doi:10.1016/j.jcf.2006.05.008

Cited by 211 publications

(177 citation statements)

References 31 publications

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“…Cystic fibrosis (CF) has a birth prevalence of approximately 1 in 3,500 in Caucasians (Southern et al 2007) and is the most common autosomal recessive condition severely affecting children in this population. Carrier frequency for individuals of Northern European ancestry is around 1 in 25-30 (Williamson 1993).…”

Section: Carrier Screening For Cystic Fibrosismentioning

confidence: 99%

Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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Discussing carrier screening during preconception consultation in primary care has a number of advantages in terms of promoting autonomy and enabling the greatest range of reproductive choices. For those with a family history of an inherited condition, this ought to be a routine discussion; however, this can be expanded to include the wider population, especially for those conditions for which carrier frequencies are considered relatively common. There is published literature from around the world regarding experiences with carrier screening in primary care for cystic fibrosis, haemoglobinopathies, fragile X syndrome, Tay-Sachs disease and spinal muscular atrophy, although many of these have tended to focus on consultations during rather than before pregnancy. Overall, these studies reveal that population carrier screening is well received by the participants with apparent minimal psychosocial harms; however, challenges exist in terms of approaches to ensure couples receive adequate information to make personally relevant decisions and for ongoing health professional engagement.

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Section: Carrier Screening For Cystic Fibrosismentioning

confidence: 99%

Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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“…Cystic fibrosis (CF) is the most common, severe autosomal recessive disease in Caucasians, with about 1 in 2,500 live births affected and a carrier frequency of 1 in 25 (Southern et al 2007). CF is characterised by chronic suppurative lung disease and pancreatic exocrine insufficiency, with a life expectancy of 30-40 years (Rowe et al 2005).…”

Section: Introductionmentioning

confidence: 99%

‘No thanks’—reasons why pregnant women declined an offer of cystic fibrosis carrier screening

et al. 2013

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“…[1][2][3] The birth prevalence of CF is ~1 in 3,500 for northern European populations, 4 with a carrier frequency of 1 in 25, making it the most common severe recessive condition in children. In the state of Victoria, Australia, CF has been part of NBS since 1989, using immunoreactive trypsinogen as the screening analyte, and from 1991, using CF transmembrane conductance regulator gene mutation analysis for elevated immunoreactive trypsinogen results.…”

Section: Introductionmentioning

confidence: 99%

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing

McClaren

Aitken

Massie

et al. 2013

Genetics in Medicine

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Original research article INTRODUCTIONNewborn screening (NBS) for cystic fibrosis (CF) has increasingly been adopted by many countries worldwide, including Australia and New Zealand (since 1981), the United Kingdom (2007), a number of other countries and regions in Europe, and the United States. [1][2][3] The birth prevalence of CF is ~1 in 3,500 for northern European populations, 4 with a carrier frequency of 1 in 25, making it the most common severe recessive condition in children. In the state of Victoria, Australia, CF has been part of NBS since 1989, using immunoreactive trypsinogen as the screening analyte, and from 1991, using CF transmembrane conductance regulator gene mutation analysis for elevated immunoreactive trypsinogen results. 5A supplement edition of Genetics in Medicine (December 2010) highlighted the need for establishing systems for shortand longer-term follow-up of children who receive positive screening results from NBS. Long-term follow-up of children diagnosed with CF is generally achievable due to their ongoing treatment and management. 6 One important area that has been poorly studied is the impact of family cascade testing following a child's diagnosis of CF through NBS. "Cascade testing" is the term often used to describe genetic testing of relatives of a person diagnosed with a genetic condition or identified as a genetic carrier. The "cascade" refers to the process of testing an individual for the familial mutation(s) and then, in the event of a positive result, descendants are tested; descendants of an individual who receives a negative result are not tested. The diagnosis of a child with CF inherently means relatives are at increased risk of being CF carriers (e.g., aunts and uncles of a child with CF have a 50% risk). Carrier relatives may have their partners tested. When both partners are identified to be carriers, knowledge of carrier status provides relatives with information that may be used to make reproductive decisions, which might include having no (more) children, prenatal diagnosis, preimplantation genetic diagnosis, using donor gametes, and adoption.We have previously investigated cascade carrier testing of relatives of children diagnosed with CF through NBS in Victoria, Australia. Parents are counseled regarding the familial implications at the time of their child's diagnosis and are provided with a letter to give to relatives to assist them with communicating the genetic information.7 Even though carrier testing was free of charge to relatives who wished to receive testing, only 11.8% of relatives accessed carrier testing. 8 The aim of this study was to explore the reasons why relatives access or do not access carrier testing following a child's diagnosis of CF by NBS.Purpose: Newborn screening for cystic fibrosis is increasingly available, but cascade testing following the diagnosis in a child has received little attention. We previously reported low levels of cascade testing over time, and this study investigated motivators as well as barriers to testing. Methods:P...

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A survey of newborn screening for cystic fibrosis in Europe

Cited by 211 publications

References 31 publications

Carrier screening in preconception consultation in primary care

Carrier screening in preconception consultation in primary care

‘No thanks’—reasons why pregnant women declined an offer of cystic fibrosis carrier screening

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing

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