Ethical and Policy Issues in Newborn Screening of Children for Neurologic and Developmental Disorders

Ross, Lainie Friedman

doi:10.1016/j.pcl.2015.03.009

Cited by 9 publications

(7 citation statements)

References 53 publications

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“…Implementation of universal newborn screening (NBS) for FXS, preconception and prenatal carrier screening have long been considered [10,72,129,130,131,132,133]. In 2006, the ACMG did not endorse the inclusion of FXS to universal NBS panel primarily due to the lack of evidence supporting the benefits of early diagnosis and the lack of a cost-effective screening tool [133].…”

Section: Population-based Screening For Fmr1 Expansionsmentioning

confidence: 99%

“…In 2006, the ACMG did not endorse the inclusion of FXS to universal NBS panel primarily due to the lack of evidence supporting the benefits of early diagnosis and the lack of a cost-effective screening tool [133]. It is now evident that early FXS diagnosis can facilitate timely interventions that could be beneficial [72], alleviate the “diagnostic odyssey” experienced by families and inform parents of their risks of having fragile X affected children through subsequent pregnancies, and also promote cascade testing of extended family members [129,134] and identification of relatives who harbor a PM and are likely to benefit from prophylactic interventions [33] and diagnosis-based management.…”

Section: Population-based Screening For Fmr1 Expansionsmentioning

confidence: 99%

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Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders

Rajan‐Babu

Chong

2016

Genes

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Fragile X syndrome (FXS) is the most common monogenic cause of intellectual disability and autism. Molecular diagnostic testing of FXS and related disorders (fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS)) relies on a combination of polymerase chain reaction (PCR) and Southern blot (SB) for the fragile X mental retardation 1 (FMR1) CGG-repeat expansion and methylation analyses. Recent advancements in PCR-based technologies have enabled the characterization of the complete spectrum of CGG-repeat mutation, with or without methylation assessment, and, as a result, have reduced our reliance on the labor- and time-intensive SB, which is the gold standard FXS diagnostic test. The newer and more robust triplet-primed PCR or TP-PCR assays allow the mapping of AGG interruptions and enable the predictive analysis of the risks of unstable CGG expansion during mother-to-child transmission. In this review, we have summarized the correlation between several molecular elements, including CGG-repeat size, methylation, mosaicism and skewed X-chromosome inactivation, and the extent of clinical involvement in patients with FMR1-related disorders, and reviewed key developments in PCR-based methodologies for the molecular diagnosis of FXS, FXTAS and FXPOI, and large-scale (CGG)n expansion screening in newborns, women of reproductive age and high-risk populations.

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Section: Population-based Screening For Fmr1 Expansionsmentioning

confidence: 99%

Section: Population-based Screening For Fmr1 Expansionsmentioning

confidence: 99%

Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders

Rajan‐Babu

Chong

2016

Genes

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“…However, because ASD is present in not more than 1% of the population (Elsabbagh et al, 2012), recruitment from a general population sample at birth would require 1000 infants to yield a final group of just 10 children with an ASD diagnosis. Mass population screening could produce larger samples but is expensive and may be ethically complex, in part due to high rates of false-positive results (Ross, 2015; Stenberg et al, 2014). Thus, many early autism researchers have chosen to adopt a practical solution, focusing their attention on so-called at-risk groups.…”

Section: Introductionmentioning

confidence: 99%

Attitudes of the autism community to early autism research

Fletcher‐Watson

Apicella

Auyeung

et al. 2016

Autism

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Investigation into the earliest signs of autism in infants has become a significant sub-field of autism research. This work invokes specific ethical concerns such as use of 'at-risk' language, communicating study findings to parents and the future perspective of enrolled infants when they reach adulthood. This study aimed to ground this research field in an understanding of the perspectives of members of the autism community. Following focus groups to identify topics, an online survey was distributed to autistic adults, parents of children with autism and practitioners in health and education settings across 11 European countries. Survey respondents (n = 2317) were positively disposed towards early autism research, and there was significant overlap in their priorities for the field and preferred language to describe infant research participants. However, there were also differences including overall less favourable endorsement of early autism research by autistic adults relative to other groups and a dislike of the phrase 'at-risk' to describe infant participants, in all groups except healthcare practitioners. The findings overall indicate that the autism community in Europe is supportive of early autism research. Researchers should endeavour to maintain this by continuing to take community perspectives into account.

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“…8 -12 Whether newborn screening (NBS) is the answer has been debated, in part because no treatment has been shown to be effective in the earliest years, an essential requirement for statemandated NBS programs. [13][14][15] Beyond lack of data on treatment efficacy, NBS for FXS evokes a number of other ethical, policy, and social concerns, 16,17 one of the most controversial of which is detection of infant "premutation" carriers . Recent reports recommend that if carrier status is detected in children, results should be returned to parents.…”

mentioning

confidence: 99%