The impact of false-positive newborn screening results on families: a qualitative study

Schmidt, Johanna; Castellanos-Brown, Karen; Childress, Saltanat; Bonhomme, Natasha; Oktay, Julianne S.; Terry, Sharon F.; Kyler, Penny; Davidoff, Amy J.; Greene, Carol L.

doi:10.1038/gim.2011.5

Cited by 85 publications

(84 citation statements)

References 15 publications

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“…A false-positive NBS result may have great impact on the parents of newborns and the families involved (Waisbren et al 2003;Gurian et al 2006). Special care and a best practice for communication between healthcare providers and parents are therefore essential in mitigating the stress involved (Schmidt et al 2012). Compared to other disease in the NBS, a positive predictive value of 37% is high (Hall et al 2014).…”

Section: Discussionmentioning

confidence: 99%

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

et al. 2015

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Objective: To improve the efficacy of newborn screening (NBS) for very long chain acyl-CoA dehydrogenase deficiency (VLCADD).Patients and Methods: Data on all dried blood spots collected by the Dutch NBS from October 2007 to 2010 (742.728) were included. Based solely on the C14:1 levels (cutoff !0.8 mmol/L), six newborns with VLCADD had been identified through NBS during this period. The ratio of C14:1 over C2 was calculated. DNA of all blood spots with a C14:1/C2 ratio of !0.020 was isolated and sequenced. Children homozygous or compound heterozygous for mutations in the ACADVL gene were traced back and invited for detailed clinical, biochemical, and genetic evaluation.Results: Retrospective analysis based on the C14:1/C2 ratio with a cutoff of !0.020 identified an additional five children with known ACADVL mutations and low enzymatic activity. All were still asymptomatic at the time of diagnosis (age 2-5 years). Increasing the cutoff to !0.023 resulted in a sensitivity of 93% and a positive predictive value of 37%. The sensitivity of the previously used screening approach (C14:1 !0.8) was 50%.Conclusion: This study shows that the ratio C14:1/C2 is a more sensitive marker than C14:1 for identifying VLCADD patients in NBS. However, as these patients were all asymptomatic at the time of diagnosis, this suggests that a more sensitive screening approach may also identify individuals who may never develop clinical disease. Long-term follow-up studies are needed to establish the risk of these VLCADD-deficient individuals for developing clinical signs and symptoms.

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Section: Discussionmentioning

confidence: 99%

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

et al. 2015

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“…9 Parents of children requiring further hearing tests following newborn hearing screening also reported increased anxiety, which was reduced in those with greater knowledge and understanding, particularly around the meaning of recall for further tests. 10 Whether receiving a false-positive test is a deterrent for future testing has not been reported in pre or postnatal studies, but having a false-positive result was reported to show no difference in re-attendance for breast screening. 12 A strength of our study was the ability to link the interviews from the women with those from their healthcare provider, which allowed us to observe discrepancies in the responses.…”

Section: Discussionmentioning

confidence: 99%

The impact of repeat testing in the New Zealand antenatal HIV screening programme: a qualitative study

2013

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Objectives To investigate the impact on women, and their healthcare providers, of initial-reactive HIV test results which required re-testing in the New Zealand antenatal HIV screening programme. Methods Women with initial-reactive HIV test results from 2007 to 2011 were identified through the antenatal HIV screening programme. Semi-structured telephone interviews were undertaken with seven women and 30 healthcare providers. Responses to questions were written verbatim. Three researchers undertook preliminary coding of the interviews and identified common themes which were applied to the transcripts and key excerpts obtained. Results All of the women interviewed experienced considerable anxiety upon receiving the result, but the extent of this anxiety was rarely appreciated by their healthcare provider. Their main worries were for their own health, that of their children and family, and their relationship with a spouse or partner. Despite this stressful experience, support for the screening programme was strong. Adequate information and timely receipt of results were identified as vital. Healthcare providers also supported the programme but stressed that clear, timely and personal communication with laboratory personnel was important. Conclusions The ideal way to alleviate anxiety in women from re-testing is to limit the need for this by obtaining as much information as possible from the original sample. If re-testing is necessary, healthcare providers need to appreciate the anxiety that will arise, ensure that they have the best possible information and communicate this to the women, as soon as is practicable, in an easily understood manner.

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“…By focusing on key analytes and ratios, 20 plus potentially clinically devastating diseases can be diagnosed and treated (Chace et al 2003;Wilcken et al 2009). A highly specific test is required in order to minimise the laboratory and clinical cost and workload, and more importantly family stress, involved in the follow-up of false positives (Schmidt et al 2012). Screening laboratories have thus adopted particular key analytes and ratios that are generally accepted to offer the highest screening sensitivity, specificity and positive predictive value.…”

Section: Introductionmentioning

confidence: 99%

The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening

et al. 2016

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New Zealand has undertaken expanded newborn screening since 2006. During that period there have been no reported cases of fatty acid oxidation disorders or organic acidemias that have been diagnosed clinically that the screening programme missed. However there may have been patients that presented clinically that were not diagnosed correctly or notified.In order to investigate the false-negative screening rate a case-control study was undertaken whereby the clinical coding data and relevant medical records were reviewed for 150 controls and 525 cases. The cases had normal newborn screening but with key analytes and/or ratios just below the notification level for individual disorders and thus in theory were most at risk of having metabolic disease.Two cases had medical histories suggestive of metabolic disease and thus could represent a false-negative screen.

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The impact of false-positive newborn screening results on families: a qualitative study

Cited by 85 publications

References 15 publications

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

The impact of repeat testing in the New Zealand antenatal HIV screening programme: a qualitative study

The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening

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