Experience with screening newborns for Duchenne muscular dystrophy in Wales.

Bradley, Don M.; Parsons, Evelyn; Clarke, Angus

doi:10.1136/bmj.306.6874.357

Cited by 86 publications

(57 citation statements)

References 12 publications

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“…There have been several trials of NBS for DMD, and it is currently offered for newborn boys with parental consent in some countries, including Wales, Canada, and Belgium (Bradley, 1993;CDC, 2004 …”

Section: Nbs For Dmdmentioning

confidence: 99%

“…However, this occurred when informed consent for NBS for DMD had not been optimal (Parsons, 2002). Researchers have also cited the possibility of anxiety or impaired bonding with infants who are identified as affected with DMD through NBS (Bradley, 1993). Overall, Parsons found no evidence of rejection from either assessment by a health visitor or mothers' responses to the rejection/protection index.…”

Section: Nbs Is a Well-established Public Health Initiative With Strumentioning

confidence: 99%

“…Previous data has shown a high opt-in rate when the decision is made in the hospital shortly after birth (Bradley, 1993). As discussed above, the environment right after the birth of a child is not necessarily the best time for an autonomous, informed consent.…”

Section: Implications For Re-implementing Opt-in or Initiating Opt-omentioning

confidence: 99%

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Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

et al. 2014

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Introduction: Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). Methods: The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history. Results: The level of support for NBS for DMD, BMD, and SMA was 95.9% among parents of children with DMD, BMD, or SMA and 92.6% among expectant parents. Conclusions: There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue. Muscle Nerve 49: 822–828, 2014

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Section: Nbs For Dmdmentioning

confidence: 99%

Section: Nbs Is a Well-established Public Health Initiative With Strumentioning

confidence: 99%

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Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

et al. 2014

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“…23,24 Newborn screening (NBS) has been widely used over many decades to identify children with various life-threatening conditions. 25 There is much discussion about possible expansion and evaluation of NBS programs to include other conditions such as DMD [25][26][27] and FXS. [28][29][30] Similarly, SMA could be considered for inclusion.…”

Section: Description Of Participantsmentioning

confidence: 99%

A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy

et al. 2014

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“…8 During the period of 1990 to 1997, a semi-quantitative test was used. 29 From 1998 to December 2011, a quantitative test was performed on all bloodspot samples. This method was based on the same assay procedure and used 96-well microtitre plates using fluorescence plate readers (from 1998 to 2009 using a Wallac system -PerkinElmer Inc. (Waltham, MA, USA) and from 2009 to 2011 using a Twinkle LB 970 -Berthold Technologies, Herts, UK).…”

Section: Bloodspot Ck Analysismentioning

confidence: 99%

Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)

et al. 2013

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Duchenne muscular dystrophy (DMD), a progressive X-linked neuromuscular disorder, has an estimated worldwide incidence of 1:3500 male births. Currently, there are no curative treatments and the mean age of diagnosis is 5 years. In addition, subsequent pregnancies frequently occur before a diagnosis is made in an index case. An 'opt in' screening programme was introduced in Wales in 1990 with the aim to: reduce the diagnostic delay, permit reproductive choice and allow planning of the care of the affected boy. Newborn bloodspots were collected routinely as part of the Wales newborn screening programme. Specific consent was obtained for this test separately from the other tests. During the 21-year period, 369 780 bloodspot cards were received from male infants, of these 343 170 (92.8%) were screened using a bloodspot creatine kinase (CK) assay following parental consent. A total of 145 cases had a raised CK activity (Z250 U/l) and at follow-up, at 6-8 weeks of age, 79 cases had a normal serum CK (false-positive rate 0.023%) and 66 cases had an elevated serum CK. DMD was confirmed in 56 cases by genotyping/muscle biopsy studies, Becker muscular dystrophy in 5 cases and other rarer forms of muscular dystrophy in 5 cases. This long-term study has so far identified 13 false-negative cases. The incidence of DMD in Wales of 1:5136 during this period is lower than that of 1:4046 before commencement of screening in Wales. Screening has reduced the diagnostic delay enabling reproductive choice for parents of affected boys and earlier administration of current therapies.

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Experience with screening newborns for Duchenne muscular dystrophy in Wales.

Abstract: Objectives-To assess the acceptability of screening newborn boys for Duchenne muscular dystrophy.

Cited by 86 publications

References 12 publications

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy

Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)

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