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Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review
Open accessAbstract
OBJECTIVES: To address five broad questions concerned with knowledge, anxiety, factors associated with participation/non-participation in screening programmes and the long-term sequelae of false-positive, true-positive in newborns and true-negative results. DATA SOURCES: Five electronic databases, two journals and attempts were made to locate unpublished work. REVIEW METHODS: This review started from a substantial literature base that provided the basis for (a) scoping the literature, (b) informing search strategy terms and (c) identifying preliminary article inclusion and exclusion criteria. The main eligibility criteria were: any screening programme aimed at pregnant women or newborn babies that included a 'genetic' target condition, this included chromosomal anomalies; any study that reported psychosocial data collected directly from parents. The data extraction form developed for this study elicited data from the selected studies. The data were entered into a database, which provided a summary of the included papers. RESULTS: A total of 288 candidate publications were identified, 106 of which were eligible: 78 were concerned with antenatal screening and 28 with newborn screening. It was found that levels of knowledge adequate for decision-making were not being achieved despite information leaflets and videos having some effect. Studies that have succeeded in increasing knowledge have not observed a corresponding increase in anxiety, although some anxiety might be an appropriate response and may aid coping and decision-making. Anxiety is clearly raised in women receiving positive screening results, especially young women. However, evidence is lacking of a beneficial (i.e. reassuring) effect of receiving a screen-negative result. Anxiety in screen-positive women falls on receipt of subsequent reassuring results, but some residual anxiety may remain. A minority (perhaps up to 30%) of women receiving a screen-positive result in pregnancy expressed regret about their screening decision. Uptake of neonatal screening has been treated as a 'given' and not as a research topic. CONCLUSIONS: The results of this review have many implications for the work of the National Screening Committee. The most pressing of these, in order of priority, relate to: the inadequacy of current procedures for achieving informed consent; the cost of providing a satisfactory service; the unmet needs of 'false-positives', and the unmet needs of women's partners, particularly in carrier screening. It is suggested that research is conducted on the above four topics in order to fill gaps in the evidence base that relate to screening technologies which have been available for many years. In addition, future screening programmes will create a new list of research questions, based on the same main agenda but applied to new areas, for example, new conditions such as haemoglobinopathies and fragile X syndrome; new client groups such as young women and minority ethnic groups; and new testing modalities such as ultrasound.
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“Green et al. conducted a systematic review (health technology assessment (HTA) report) on psychosocial aspects of genetic screening of pregnant women and newborns in 2004, before NIPT was introduced. They found that there was lack of evidence for a beneficial or reassuring effect of receiving a negative screening result; however, anxiety was raised in women receiving positive screening results. Up”
From Psychological and social consequences of non-invasive prenatal testing (NIPT): a scoping review (2019) · cites this paper as [6]
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Metadata
- Authors
- Green, J., Hewison, J., Bekker, H., Bryant, L., & Cuckle, H.
- Affiliations
- University of Leeds (GB)
- Venue
- Health Technology Assessment
- Published
- 2004-08
- Volume
- 8
- Issue
- 33
- Pages
- iii, ix-x, 1
- ISSN
- 1366-5278 (ISSN-L)
- 2046-4924
- OpenAlex
- W2162637943
- Cited by
- 368
- References
- 134
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 8 · 2023: 6 · 2022: 6 · 2021: 6 · 2020: 11 · 2019: 5 · 2018: 9 · 2017: 9 · 2016: 16 · 2015: 17 · 2014: 22 · 2013: 16 · 2012: 23
- FWCI
- 2.61
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Locations
- Health Technology Assessment (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- DigitalGeorgetown (Georgetown University Library) (submittedVersion)
- Funders
- Health Technology Assessment programme (93/56/99)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Maternal Mental Health During Pregnancy and Postpartum
- Health Sciences › Health Professions › General Health Professions › Patient-Provider Communication in Healthcare
- Keywords
- genetic screening, prenatal screening, newborn screening, psychosocial outcomes, parental anxiety, informed consent, screening uptake, false positives, carrier screening, chromosomal abnormalities, screening decision-making, National Screening Committee, screening program evaluation, hemoglobin screening, cystic fibrosis screening, sickle cell disease
- MeSH terms
- Adult, Anxiety, Female, Genetic Testing, United Kingdom, Humans, Infant, Newborn, Pregnancy, Prenatal Diagnosis, Neonatal Screening
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