Dataset Information

Outcomes of Universal Newborn Screening Programs: Systematic Review.

ABSTRACT:

Background

This systematic review examined the outcomes (age of identification and intervention, developmental outcomes, cost-effectiveness, and adverse effects on parents) of universal newborn hearing screening (UNHS) for children with permanent congenital hearing loss (PCHL).

Materials and methods

Multiple electronic databases were interrogated in March and April 2020 with further reports identified from article citations and unpublished literature. UNHS reports in English with comparisons of outcomes of infants who were not screened, and infants identified through other hearing screening programs.

Results

30 eligible reports from 14 populations with 7,325,138 infants screened through UNHS from 1616 non-duplicate references were included. UNHS results in a lower age of identification, amplification, and the initiation of early intervention services and better language/literacy development. Better speech perception/production were shown in younger, but not in older, children with early identification after UNHS. No significant findings were found for behavior problems and quality of life. UNHS was found to be cost-effective in terms of savings to society. In addition, no significant parental harm was noted as a result of UNHS.

Conclusions

In highly developed countries, significantly better outcomes were found for children identified early through UNHS programs. Early language development predicts later literacy and language development.

SUBMITTER: Yoshinaga-Itano C

PROVIDER: S-EPMC8268039 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Outcomes of Universal Newborn Screening Programs: Systematic Review.

Yoshinaga-Itano Christine C Manchaiah Vinaya V Hunnicutt Cynthia C

Journal of clinical medicine 20210624 13

<h4>Background</h4>This systematic review examined the outcomes (age of identification and intervention, developmental outcomes, cost-effectiveness, and adverse effects on parents) of universal newborn hearing screening (UNHS) for children with permanent congenital hearing loss (PCHL).<h4>Materials and methods</h4>Multiple electronic databases were interrogated in March and April 2020 with further reports identified from article citations and unpublished literature. UNHS reports in English with ...[more]

PMID: 34202909

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Project description:ImportanceGenomic newborn screening (gNBS) may optimize the health and well-being of children and families. Screening programs are required to be evidence based, acceptable, and beneficial.ObjectivesTo identify what has been discovered following the reporting of the first gNBS pilot projects and to provide a summary of key points for the design of gNBS.Evidence reviewA systematic literature review was performed on April 14, 2021, identifying 36 articles that addressed the following questions: (1) what is the interest in and what would be the uptake of gNBS? (2) what diseases and genes should be included? (3) what is the validity and utility of gNBS? and (4) what are the ethical, legal, and social implications? Articles were only included if they generated new evidence; all opinion pieces were excluded.FindingsIn the 36 articles included, there was high concordance, except for gene disease inclusion, which was highly variable. Key findings were the need for equitable access, appropriate educational materials, and informed and flexible consent. The process for selecting genes for testing should be transparent and reflect that parents value the certainty of prediction over actionability. Data should be analyzed in a way that minimizes uncertainty and incidental findings. The expansion of traditional newborn screening (tNBS) to identify more life-threatening and treatable diseases needs to be balanced against the complexity of consenting parents of newborns for genomic testing as well as the risk that overall uptake of tNBS may decline. The literature reflected that the right of a child to self-determination should be valued more than the possibility of the whole family benefiting from a newborn genomic test.Conclusions and relevanceThe findings of this systematic review suggest that implementing gNBS will require a nuanced approach. There are gaps in our knowledge, such as the views of diverse populations, the capabilities of health systems, and health economic implications. It will be essential to rigorously evaluate outcomes and ensure programs can evolve to maximize benefit.

Project description:BackgroundPermanent bilateral hearing loss (PBHL) is a serious condition in newborns, with a prevalence of at least one per 1000 live births. However, there has been no recent systematic review and meta-analysis of the effectiveness of universal newborn hearing screening programs (UNHS).MethodsWe registered our study protocol on PROSPERO CRD42020175451. Primary outcomes were any identification of PBHL (ie, PBHL diagnosed at any time), age of identification of PBHL, and neurodevelopment. Two reviewers searched standard databases to March 2022 and extracted data. We used fixed and random effects meta-analysis to pool data and graded the certainty of evidence using standard methods.ResultsThe search retrieved 2834 records. We identified five studies reporting on the effects of UNHS vs no UNHS in 1 023 610 newborns. The relative risk of being identified with PBHL before nine months in infants with UNHS compared to infants without UNHS was 3.28 (95% confidence interval (95% CI) = 1.84, 5.85, one study, 1 023 497 newborns, low certainty evidence). The mean difference in the age of identification of PBHL in infants with UNHS compared to infants without UNHS was 13.2 months earlier (95% CI = -26.3, -0.01, two studies, 197 newborns, very low certainty evidence). The relative risk of infants eventually being identified with PBHL in infants with UNHS compared to infants without UNHS was 1.01 (95% CI = 0.89, 1.14, three studies, 1 023 497 newborns, low certainty evidence). At the latest follow-up at 3-8 years, the standardised mean difference (SMD) in receptive language development between infants with UNHS compared to infants without UNHS was 0.60 z scores (95% CI = 0.07, 1.13, one study, 101 children, low certainty evidence) and the mean difference in developmental quotients was 7.72 (95% CI = -0.03, 15.47, three studies, 334 children, very low certainty evidence). The SMD in expressive language development was 0.39 z scores (95% CI = -0.20, 0.97, one study, 87 children, low certainty evidence) and the mean difference in developmental quotients was 10.10 scores (95% CI = 1.47, 18.73, 3 studies, 334 children, very low certainty evidence).ConclusionsUNHS programs result in earlier identification of PBHL and may improve neurodevelopment. UNHS should be implemented across high-, middle-, and low-income countries.RegistrationPROSPERO (CRD42020175451).

Project description:BackgroundThis systematic review assessed the effectiveness of universal screening for newborn eye abnormalities compared with no screening in improving infant vision and health outcomes.MethodsWe searched CENTRAL (Cochrane Library), MEDLINE, Embase, Global Health, Global Index Medicus, clinical trials databases, and bibliographies of relevant articles. We included randomized and observational studies of all newborns, regardless of illness or risk factors, that compared universal screening for any eye abnormality by eight weeks of age with no universal screening. Two authors independently selected studies, extracted data, and evaluated the risk of bias. We used GRADE to assess the certainty of evidence. We also reviewed available recommendations on newborn eye screening.ResultsFourteen studies were identified but only three compared universal red reflex screening with no screening. Findings suggest that universal red reflex testing in maternity wards (MWs) may increase the number of newborns with congenital cataracts referred for eye care from MWs or well-baby clinics (WBCs) in the first year of life (risk ratio (RR) = 9.83, 95% confidence interval (CI) = 1.36-71.20; low certainty evidence). However, the effect of screening in WBC is uncertain (RR = 6.62, 95% CI = 0.87-50.09). The effect of MW or WBC screening on referral from any health care facility (MWs, WBCs, paediatrician clinic, other) in the first year is uncertain (MW screening: RR = 1.22, 95% CI = 0.63-2.39; WBC screening: RR = 0.97, 95% CI = 0.46-2.05). However, referral or surgery by 6 weeks of age may be higher with universal MW screening (early referral: RR = 4.61, 95% CI = 1.12-19.01; early surgery: RR = 8.23, 95% CI = 1.13-59.80; low certainty evidence). The effect of WBC screening on early referral and surgery is uncertain (early referral: RR = 1.98, 95% CI = 0.43-9.19; early surgery: RR = 3.97, 95% CI = 0.50-31.33; very low certainty evidence). Universal red reflex testing may increase clinical conjunctivitis (OR = 1.22, 95% CI = 1.01-1.47; low certainty evidence) but the effect on confirmed bacterial conjunctivitis is uncertain (OR = 1.20, 95% CI = 0.76-1.90; very low-certainty evidence). Nine guidelines recommended universal newborn eye screening using red reflex testing.ConclusionsEvidence supports the role of red reflex testing shortly after birth to increase early identification, referral, and surgery for congenital cataracts.

Project description:ImportanceNewborn screening (NBS) for cystic fibrosis (CF) has been universal in the US since 2010, but its association with clinical outcomes is unclear.ObjectiveTo describe the real-world effectiveness of NBS programs for CF in the US on outcomes up to age 10 years.Design, setting, and participantsThis was a retrospective cohort study using CF Foundation Patient Registry data from January 1, 2000, to December 31, 2018. The staggered implementation of NBS programs by state was used to compare longitudinal outcomes among children in the same birth cohort born before vs after the implementation of NBS for CF in their state of birth. Participants included children with an established diagnosis of CF born between January 1, 2000, to December 31, 2018, in any of the 44 states that implemented NBS for CF between 2003 and 2010. Data were analyzed from October 5, 2020, to April 22, 2022.ExposuresBirth before vs after the implementation of NBS for CF in the state of birth.Main outcomes and measuresLongitudinal trajectory of height and weight percentiles from diagnosis, lung function (forced expiratory volume in 1 second, [FEV1] percent predicted) from age 6 years, and age at initial and chronic infection with Pseudomonas aeruginosa using linear mixed-effects and time-to-event models adjusting for birth cohort and potential confounders.ResultsA total of 9571 participants (4713 female participants [49.2%]) were eligible for inclusion, with 4510 (47.1%) in the pre-NBS cohort. NBS was associated with higher weight and height percentiles in the first year of life (weight, 6.0; 95% CI, 3.1-8.4; height, 6.6; 95% CI, 3.8-9.3), but these differences decreased with age. There was no association between NBS and FEV1 at age 6 years, but the percent-predicted FEV1 did increase more rapidly with age in the post-NBS cohort. NBS was associated with older age at chronic P aeruginosa infection (hazard ratio, 0.69; 95% CI, 0.54-0.89) but not initial P aeruginosa infection (hazard ratio, 0.88; 95% CI, 0.77-1.01).Conclusions and relevanceNBS for CF in the US was associated with improved nutritional status up to age 10 years, a more rapid increase in lung function, and delayed chronic P aeruginosa infection. In the future, as highly effective modulator therapies become available for infants with CF, NBS will allow for presymptomatic initiation of these disease-modifying therapies before irreversible organ damage.

Dataset Information

Outcomes of Universal Newborn Screening Programs: Systematic Review.

Background

Materials and methods

Results

Conclusions

Publications

Outcomes of Universal Newborn Screening Programs: Systematic Review.

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