Wide scope prenatal diagnosis at Kuopio University Hospital 1997<b>‐</b>1998: integration of gene tests and fetal karyotyping

Kallinen, Juuso; Marin, Katja; Heinonen, Seppo; Mannermaa, Arto; Palotie, Aarno

doi:10.1111/j.1471-0528.2001.00118.x

Cited by 6 publications

(11 citation statements)

References 22 publications

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“…The majority were with pregnant women (Berkenstadt et al 2007;Cronister et al 2005;Fanos et al 2006;Huang et al 2003;Pesso et al 2000;Spence et al 1996;Ryynanen et al 1999;Toledano-Alhadef et al 2001;Kallinen et al 2001), while some included relatively smaller numbers of nonpregnant women (Pesso et al 2000;Spence et al 1996;Toledano-Alhadef et al 2001;Berkenstadt et al 2007;Geva et al 2000). Most studies essentially focused on the uptake of testing, with rates varying between 7.9% ) and 21% (Spence et al 1996) in the USA, 80% in Israel (Pesso et al 2000), and 85% (Ryynanen et al 1999) and 92% respectively in two Finnish studies (Kallinen et al 2001).…”

Section: Carrier Screening For Fragile X Syndromementioning

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 Fragile X Syndromementioning

confidence: 99%

Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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“…The majority of included studies offered carrier screening to women of reproductive age, with four studies targeting pregnant women only, 40,55,59,60 one study targeting nonpregnant women only, 61 and five studies targeting both pregnant and nonpregnant women. 11,54,56 -58 Only one study addressed offering newborn screening.…”

Section: Studies Offering Population Screening For Fxsmentioning

confidence: 99%

“…Four studies were retrospective audits conducted in Israel in settings where carrier screening for FXS was offered to pregnant and nonpregnant women as an existing clinical service. 11,56 -58 The remaining studies had a prospective design and addressed the feasibility of offering carrier screening in defined clinical settings in the United States, 53,54,60 Australia, 61 Finland, 55,59 and Taiwan. 40 Sample sizes drawn from the general population ranged from 239 59 to 36,483.…”

Section: Studies Offering Population Screening For Fxsmentioning

confidence: 99%

“…Uptake varied from 7.9% in a US study offering FXS screening to pregnant women attending prenatal genetic counseling for various reasons 60 to 92% in a Finnish study offering FXS screening to pregnant women undergoing invasive testing. 59 Metcalfe et al 61 reported an uptake of 20% when screening was offered to nonpregnant women at an Australian primary care clinic and Spence et al 54 reported an uptake of 21% in a US study of pregnant and nonpregnant women attending genetic counseling for various reasons. The newborn screening study found uptake was 79%.…”

Section: Studies Offering Population Screening For Fxsmentioning

confidence: 99%

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A systematic review of population screening for fragile X syndrome

Hill

Archibald

Cohen

et al. 2010

Genetics in Medicine

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Purpose: To conduct a systematic review of literature regarding population-based screening for fragile X syndrome in newborns and women of reproductive age, either before or during pregnancy. Methods: Seven electronic databases were searched for English language studies published between January 1991 and November 2009. Data extraction was performed for all included studies. Results were synthesized using a narrative approach. Results: One article that examined offering newborn screening for fragile X syndrome and 10 that examined the offer of fragile X syndrome screening to women of reproductive age were identified. Two of these articles also addressed psychosocial aspects of population screening for fragile X syndrome such as attitudes to screening and experiences of screening, and a further nine addressed these issues alone. Studies exploring psychosocial issues demonstrated challenges for counseling arising from a lack of awareness or personal experience with fragile X syndrome in the general population. Conclusions: Targeted counseling and educational strategies will be essential to support women from the general population. It is crucial that future studies offering screening for fragile X syndrome explore a range of psychosocial aspects in addition to looking at uptake of testing and mutation frequency. Genet Med 2010:12(7):396 -410.Key Words: attitudes, carrier screening, fragile X syndrome, newborn screening, psychosocial P opulation-based screening programs for a number of genetic conditions have been established in newborn, prenatal, and preconception settings. Specific criteria, such as those developed by the World Health Organization, 1,2 are available to provide guidance on which conditions are suitable for screening. 3 Fragile X syndrome (FXS) is an X-linked genetic condition for which possible inclusion in population-based screening programs has been discussed and debated for many years. 4 -7 FXS is the most common known cause of inherited intellectual and developmental disability. It has a serious adverse impact on individuals and their families that is equivalent to that of other disabilities such as Down syndrome and autism. Most FXS cases are caused by the silencing of the FMR1 gene, which is located on the X chromosome. In these cases, the FMR1 gene is switched off as a result of an increase in the number of hypermethylated trinucleotide (CGG) repeats in the 5Ј untranslated region of the gene. Current definitions describe the normal range of CGG repeats as 6 -44, the "gray zone" range as 45-54 repeats, and the premutation range as 55-199 repeats. 8 Those affected by FXS have Ͼ200 repeats (full mutation). The length of the CGG repeat is unstable over a certain size, such that a premutation can expand to a full mutation when passed onto offspring through female, but not male, premutation carriers. 9 -11 Similarly, a gray zone allele can increase to a premutation allele when transmitted to offspring, such that a grandchild could be affected with FXS.The full mutation is associated with intell...

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“…Kallinen and co-workers 102 reported results of screening for FXS, aspartylglycosaminuria and infantile neuronal ceroid lipofuscinosis in women undergoing invasive prenatal diagnosis at the University Hospital of Kuopio in Finland in 1997-8. The indications for invasive prenatal diagnosis were advanced age, family history, maternal serum screening, ultrasound finding or other reasons (but not for screening for FXS).…”

Section: Screening Women Undergoing Invasive Prenatal Diagnosismentioning

confidence: 99%

Screening for fragile X syndrome: a literature review and modelling study

Song

Barton²,

Sleightholme³

et al. 2003

Health Technol Assess

101

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Wide scope prenatal diagnosis at Kuopio University Hospital 1997‐1998: integration of gene tests and fetal karyotyping

Cited by 6 publications

References 22 publications

Carrier screening in preconception consultation in primary care

Carrier screening in preconception consultation in primary care

A systematic review of population screening for fragile X syndrome

Screening for fragile X syndrome: a literature review and modelling study

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