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Psychosocial Impact of Positive Newborn Screening
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Psychosocial Impact of Positive Newborn Screening

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: closed (31 October 2024) | Viewed by 17095

Special Issue Editors

Dr. Jane Chudleigh

E-Mail Website
Guest Editor
Cicely Saunders Institute of Palliative Care, Policy & Rehabilitation, Florence Nightingale Faculty of Nursing, Midwifery & Palliative Care, King's College London, Bessemer Road, London SE5 9PJ, UK
Interests: newborn bloodspot screening; cystic fibrosis; communication of screening results; sickle cell disease; IMDs; genetic information sharing; impact of false positive and uncertain results following screening
Leah E. Hecht

E-Mail Website
Guest Editor Assistant
Complex Care Service, Boston Children's Hospital, Boston, MA 02115, USA
Interests: pediatrics

Special Issue Information

Dear Colleagues,

The purpose of newborn bloodspot screening (NBS) is identification of pre-symptomatic babies, as early identification and initiation of treatment improves long-term outcomes. Challenges exist in terms of communicating positive NBS results to families. This is partly due to variability in terms of the clinical spectrum in screen-positive cases; while most babies who receive a positive NBS result will later be confirmed as affected or where relevant, carriers of the condition screened for. Other outcomes include false-positive results, borderline results for congenital hypothyroidism (CHT) and the designation of cystic fibrosis (CF) screen-positive, inconclusive diagnosis (CFSPID). These outcomes can cause uncertainty for both parents and health care professionals. Consequently, communication to parents needs to be carefully crafted to minimize potentially harmful negative psychosocial sequelae.

Furthermore, early identification—particularly for babies who are asymptomatic—and inconclusive diagnoses can lead to a paradigm shift in terms of parental perceptions of illness and disease. This can be challenging for parents who may doubt their competence to recognize when their baby is unwell, and struggle with how the diagnosis fits with their perception of their baby’s identity. A positive NBS result often also leads to sudden, unexpected and extensive involvement of a range of health care professionals in the child and family’s life.

This Special Issue of the International Journal of Neonatal Screening on Psychosocial Impact of Positive Newborn Screening will focus on the potential impact of positive NBS on the child and their family, particularly when the outcome leads to a degree of uncertainty, and how this can potentially be managed to reduce associated negative psychosocial outcomes.

Dr. Jane Chudleigh
Guest Editor

Leah E. Hecht
Guest Editor Assistant

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • newborn screening
  • psychosocial
  • communication
  • cystic fibrosis
  • inherited metabolic diseases
  • haemoglobinopathies
  • congenital hypothyroidism
  • genetic information

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Published Papers (7 papers)

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Research

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15 pages, 243 KiB  
Article
Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences
by Cecilie S. Videbæk, Sabine W. Grønborg, Allan M. Lund and Mette L. Olesen
Int. J. Neonatal Screen. 2024, 10(4), 73; https://doi.org/10.3390/ijns10040073 - 24 Oct 2024
Viewed by 811
Abstract
X-linked adrenoleukodystrophy (ALD) is a rare metabolic disorder. Symptoms range from cerebral demyelination (cALD) to adrenal insufficiency and slowly progressive myeloneuropathy. cALD is fatal if not treated with hematopoietic cell transplantation in the early stages of the disease course. This can be achieved [...] Read more.
X-linked adrenoleukodystrophy (ALD) is a rare metabolic disorder. Symptoms range from cerebral demyelination (cALD) to adrenal insufficiency and slowly progressive myeloneuropathy. cALD is fatal if not treated with hematopoietic cell transplantation in the early stages of the disease course. This can be achieved through cascade testing or newborn screening (NBS). Due to the lack of predictive measures of disease trajectory, patients are monitored with frequent MRI scans and hormone testing to ensure timely intervention. With this study, we wanted to explore how the diagnosis of ALD, before the development of cALD, and the follow-up program affected patients and their parents. Using semi-structured interviews, we interviewed seven parents of children with ALD aged 3–11 and four patients with ALD aged 18–25. Because NBS for ALD has not been implemented in Denmark, the patients were identified through either cascade testing or after having presented with adrenal insufficiency. We generated five themes: (I) ALD patients maintained mental resilience despite diagnosis and surveillance; (II) patients’ concerns matured with age and centered around situations that confronted them with their patient status; (III) parents of children with ALD had both short-term and long-term worries for their children’s health; (IV) parents took on a huge psychological burden; and (V) due to its rarity, the diagnosis of ALD evoked a sense of isolation and disease-related loneliness. Overall, we found a large discrepancy in the experiences reported by parents and patients. Despite the small sample size, we identified patterns that suggest that while the early diagnosis took a significant psychological toll on the parents, patients lived relatively carefree lives despite their ALD diagnosis. Full article
(This article belongs to the Special Issue Psychosocial Impact of Positive Newborn Screening)
14 pages, 1148 KiB  
Article
Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents
by Lieke M. van den Heuvel, Sylvia M. van der Pal, Rendelien K. Verschoof-Puite, Jasmijn E. Klapwijk, Ellen Elsinghorst, Eugènie Dekkers, Catharina P. B. van der Ploeg and Lidewij Henneman
Int. J. Neonatal Screen. 2024, 10(1), 18; https://doi.org/10.3390/ijns10010018 - 5 Mar 2024
Cited by 4 | Viewed by 1532
Abstract
Expansion of newborn bloodspot screening (NBS) can increase health gain for more children but also increases the number of false-positive and uncertain results. The impact of abnormal and inconclusive NBS results on parental well-being and healthcare utilization was investigated. A questionnaire was sent [...] Read more.
Expansion of newborn bloodspot screening (NBS) can increase health gain for more children but also increases the number of false-positive and uncertain results. The impact of abnormal and inconclusive NBS results on parental well-being and healthcare utilization was investigated. A questionnaire was sent to Dutch parents receiving an abnormal or inconclusive NBS result five weeks (T1) and four months (T2) post-NBS and compared to parents with a normal result (controls). In total, 35 true-positive (TP), 20 false-positive (FP), and 57 inconclusive (IC) participants and 268 controls filled out T1; 19 TP, 14 FP, 27 IC, and 116 controls filled out T2. Participants showed positive attitudes towards NBS. FP participants more often considered NBS less reliable. TP and FP participants experienced more negative emotions regarding the test result compared to controls at both T1 and T2, and IC only at T1. Parent-reported child vulnerability and perceptions of the newborn’s health status and of parenthood showed no differences. TP and FP participants reported more healthcare utilization at T1, and mainly TP at T2. TP and IC participants showed more emergency department visits at T1. The findings can be used to improve NBS programs and optimize support for families with various NBS results. Full article
(This article belongs to the Special Issue Psychosocial Impact of Positive Newborn Screening)
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10 pages, 237 KiB  
Article
Communicating a Positive Result at Newborn Screening and Parental Distress
by Elisa Lastrucci, Marta Daniotti, Elena Procopio, Giusi Scaturro, Flavia Tubili, Rosanna Martin and Giancarlo la Marca
Int. J. Neonatal Screen. 2023, 9(3), 38; https://doi.org/10.3390/ijns9030038 - 14 Jul 2023
Cited by 1 | Viewed by 1651
Abstract
The assumption of this study is strictly connected to the need to focus and to know more about the impact on the psychological state of the parents whose newborn babies get a positive result at Expanded Newborn Screening (ENS). As clinical experience shows [...] Read more.
The assumption of this study is strictly connected to the need to focus and to know more about the impact on the psychological state of the parents whose newborn babies get a positive result at Expanded Newborn Screening (ENS). As clinical experience shows us, this aspect seems to have a potentially lasting resonance on the way the disease will be managed and handled in the family, leading to potential negative effects and repercussions on the child’s wellbeing and on the quality of life within the family. On the basis of this and on the evidence emerging from a review of the literature, this study aims to investigate and objectify possible distress indicators elicited at the moment of the communication of a positive result at ENS. Questionnaires containing the Beck Depression Inventory-II, the State-Trait Anxiety Inventory-Y, and the Short Form 36 Health Survey tests were administered to the parents of 87 newborns who received positive results at ENS. The parents of 32 babies expressed the presence of discomfort potentially related to the communication of a positive result at ENS. Full article
(This article belongs to the Special Issue Psychosocial Impact of Positive Newborn Screening)
12 pages, 922 KiB  
Article
Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders
by Natalie A. Boychuk, Niamh S. Mulrooney, Nicole R. Kelly, Aaron J. Goldenberg, Ellen J. Silver and Melissa P. Wasserstein
Int. J. Neonatal Screen. 2022, 8(4), 59; https://doi.org/10.3390/ijns8040059 - 10 Nov 2022
Cited by 8 | Viewed by 2684
Abstract
The ability to screen newborns for a larger number of disorders, including many with variable phenotypes, is prompting debate regarding the psychosocial impact of expanded newborn bloodspot screening (NBS) on parents. This study compares psychological outcomes of parents of children with a range [...] Read more.
The ability to screen newborns for a larger number of disorders, including many with variable phenotypes, is prompting debate regarding the psychosocial impact of expanded newborn bloodspot screening (NBS) on parents. This study compares psychological outcomes of parents of children with a range of NBS/diagnostic experiences, with a particular focus on lysosomal storage disorders (LSDs) and X-linked adrenoleukodystrophy (X-ALD) as representative disorders with complex presentations. An online cross-sectional survey with six domains was completed in 2019 by a volunteer sample of parents with at least one child born between 2013 and 2018. Parents were classified in the analysis stage into four groups based on their child’s rare disorder and means of diagnosis. Stress and depression were estimated using dichotomous measures of the depression subscale of the Hospital Anxiety and Depression Scale and the Parental Stress Scale. Logistic regression models were estimated for the relationship between the parent group and stress/depression, controlling for demographic variables (region of the US, income, education, major life events, relationship to the child, number of children, parent age, and race/ethnicity). One hundred seventy-four parents were included in this analysis. Parents of children with an LSD or X-ALD diagnosis clinically may have higher odds of depression (OR: 6.06, 95% CI: 1.64–24.96) compared to parents of children with the same disorders identified through NBS, controlling for covariates. Although a similar pattern was observed for parental stress (OR: 2.85, 95% CI: 0.82–10.37), this did not reach statistical significance. Ethically expanding NBS and genome sequencing require an understanding of the impacts of early detection for complex disorders on families. These initial findings are reassuring, and may have implications as NBS expands. Given our small sample size, it is difficult to generalize these findings to all families. These preliminary trends warrant further investigation in larger and more diverse populations. Full article
(This article belongs to the Special Issue Psychosocial Impact of Positive Newborn Screening)
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13 pages, 250 KiB  
Article
A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening
by Kaylee Crossen, Lisa Berry, Melanie F. Myers, Nancy Leslie and Cecilia Goueli
Int. J. Neonatal Screen. 2022, 8(3), 43; https://doi.org/10.3390/ijns8030043 - 19 Jul 2022
Cited by 5 | Viewed by 3243
Abstract
Pompe disease was added to the United States recommended uniform screening panel in 2015 to avoid diagnostic delay and implement prompt treatment, specifically for those with infantile-onset Pompe disease (IOPD). However, most newborns with abnormal newborn screening (NBS) for Pompe disease have late-onset [...] Read more.
Pompe disease was added to the United States recommended uniform screening panel in 2015 to avoid diagnostic delay and implement prompt treatment, specifically for those with infantile-onset Pompe disease (IOPD). However, most newborns with abnormal newborn screening (NBS) for Pompe disease have late-onset Pompe disease (LOPD). An early diagnosis of LOPD raises the question of when symptoms will arise which is challenging for parents, patients, and providers managing an LOPD diagnosis. This study aimed to characterize mothers’ experiences of their child’s LOPD diagnosis and medical monitoring. A qualitative descriptive approach was chosen to gain an in-depth understanding of parental experiences. Eight mothers were interviewed about their experiences with positive NBS and diagnosis, experiences with living with the diagnosis, and experiences with medical monitoring. Interview transcripts were analyzed through conventional content analysis. Negative emotions like fear were more frequent with communication of NBS results. Participants expressed uncertainty surrounding age of symptom onset and the future. The medical monitoring experience increased worry but participants expressed that being vigilant with management reassured them. Parental emotions shifted to thankfulness and reassurance with time and education. These findings can provide guidance to providers about the psychosocial implications of receiving positive NBS results and an LOPD diagnosis. Full article
(This article belongs to the Special Issue Psychosocial Impact of Positive Newborn Screening)

Review

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30 pages, 556 KiB  
Review
Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
by Audrey Tluczek, Anne L. Ersig and Shinhyo Lee
Int. J. Neonatal Screen. 2022, 8(4), 53; https://doi.org/10.3390/ijns8040053 - 27 Sep 2022
Cited by 30 | Viewed by 4076
Abstract
Genomic advances have contributed to a proliferation of newborn screening (NBS) programs. Psychosocial consequences of NBS have been identified as risks to these public health initiatives. Following PRISMA guidelines, this systematic review synthesizes findings from 92 evidence-based, peer-reviewed research reports published from 2000 [...] Read more.
Genomic advances have contributed to a proliferation of newborn screening (NBS) programs. Psychosocial consequences of NBS have been identified as risks to these public health initiatives. Following PRISMA guidelines, this systematic review synthesizes findings from 92 evidence-based, peer-reviewed research reports published from 2000 through 2020 regarding psychosocial issues associated with NBS. Results describe parents’ knowledge of and attitudes towards NBS, reactions to and understanding of positive NBS results, experiences of communication with health providers, decisions about carrier testing, and future pregnancies. Findings also explain the impact of positive NBS results on parent–child relationships, child development, informing children about carrier status, family burden, quality of life, and disparities. In conclusion, psychosocial consequences of receiving unexpected neonatal screening results and unsolicited genetic information remain significant risks to expansion of NBS. Findings suggest that risks may be mitigated by improved parent NBS education, effective communication, individualized genetic counseling, and anticipatory developmental guidance. Clinicians need to take extra measures to ensure equitable service delivery to marginalized subpopulations. Future investigations should be more inclusive of culturally and socioeconomically diverse families and conducted in low-resource countries. Providing these countries with adequate resources to develop NBS programs is an essential step towards achieving international health equity. Full article
(This article belongs to the Special Issue Psychosocial Impact of Positive Newborn Screening)
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Other

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11 pages, 212 KiB  
Opinion
Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate
by Lynn W. Bush and Harvey L. Levy
Int. J. Neonatal Screen. 2024, 10(1), 12; https://doi.org/10.3390/ijns10010012 - 6 Feb 2024
Cited by 1 | Viewed by 1294
Abstract
We look to the past as prologue for guidance in predicting and circumventing potential psychosocial–ethical challenges, including those that may influence the attachment process for some parents. We consider the evolution of bioethics and developmental psychology as they intersect with newborn screening while [...] Read more.
We look to the past as prologue for guidance in predicting and circumventing potential psychosocial–ethical challenges, including those that may influence the attachment process for some parents. We consider the evolution of bioethics and developmental psychology as they intersect with newborn screening while exploring potential implications of positive findings, be they false positives, true positives, or secondary as well as incidental findings. We reflect on navigating the complex landscape that may be significantly impacted by variable phenotypes, the age of onset, and uncertain prognoses, mindful of the diagnostic odyssey continuum. We explore select facets of ethical and psychological challenges encountered with positive newborn screening findings by highlighting enduring debates to improve the policy process in public health and medicine. We believe substantive empirical research is needed, including long-term follow-up, routine prenatal assessment of tolerance for uncertainties, and especially innovative methodologies to better evaluate potential psychological distress that may be present in some at-risk individuals during the perinatal period preceding and following reports of positive findings. Mitigation strategies building on lessons learned from NBS and clinical follow-up should be implemented and studied. We conclude by pondering why we remain far afield from providing these services. Research directed towards understanding the implications of positive NBS findings will further reduce the burdens on families and care providers alike and should lead to improved communication. Full article
(This article belongs to the Special Issue Psychosocial Impact of Positive Newborn Screening)
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