Beyond Discharge: A Scoping Review of the Long‐Term Outcomes of Congenital Diaphragmatic Hernia in Australia

ABSTRACT

Aim

The aim of this scoping review was to identify, explore and map the available literature on long‐term health‐related outcomes in children born with congenital diaphragmatic hernia (CDH) in Australia, following discharge from a neonatal intensive care unit (NICU).

Study Design

This scoping review used Johanna Briggs Institute (JBI) review methods to identify qualitative and quantitative peer‐reviewed journal publications, published between January 2005 and June 2025.

Data Sources

Ovid MEDLINE, Scopus, Ovid Embase and Google Scholar.

Data Synthesis

Database searches produced 57 potential studies; 5 met the inclusion criteria. All studies included Australian‐based participants and discussed outcomes after discharge from NICU. Children surviving at 1 year of age were identified in two of the included studies. Neurodevelopment and psychosocial long‐term health‐related outcomes and sequelae were identified in three of the five studies. Quality of life was discussed in two of the studies, and multisystem involvement, such as respiratory and gastrointestinal, was the focus of one study.

Conclusion

The findings of this scoping review demonstrate that there is a dearth of peer‐reviewed literature available on long‐term health‐related outcomes for children born with CDH in Australia. As survival rates of neonates born with CDH continue to increase, more research is needed to better understand the long‐term health outcomes, and therefore the long‐term health needs, of this population group.

Key Points

• In Australia, there is limited research about the long‐term health‐related outcomes for individuals who are born with congenital diaphragmatic hernia. Only five studies were identified in this scoping review, identifying a significant gap in research.

• Understanding long‐term outcomes for CDH is important to better plan, develop and target future healthcare needs for this population group.

• CDH survivors in Australia are more likely to have higher rates of neurodevelopment, psychosocial, respiratory, gastrointestinal and musculoskeletal health concerns.

1. Introduction

Survival rates for neonates born with congenital diaphragmatic hernia (CDH) have improved in the last two decades, due to advances in antenatal diagnosis, neonatal intensive care, perinatal care, lung protective strategies and surgical techniques [1, 2, 3, 4, 5, 6, 7, 8]. CDH is a rare congenital anomaly characterised by a diaphragmatic defect that allows abdominal organs to herniate into the thoracic cavity during fetal development, disrupting pulmonary growth and, in some cases, cardiac development [6]. The severity of CDH and its associated complications varies according to multiple factors, including the defect size and location, degree of lung hypoplasia, pulmonary hypertension and cardiac involvement [9]. The aetiology of CDH is complex and remains largely unknown [10]. In Australia, population‐based studies estimate an incidence of approximately 1 in 2500 pregnancies, with survival reported as 50%–60%, inclusive of antenatal deaths and terminations [9, 11, 12]. As survival rates have improved, there has been increased recognition of the need to better characterise health‐related outcomes beyond the neonatal period.

International studies indicate that approximately 87% of CDH survivors experience ongoing health challenges after their initial discharge from hospital, including pulmonary, cardiovascular, gastrointestinal and neurodevelopment sequelae [3, 7, 8, 13, 14, 15]. However, the nature, frequency, and reporting of these outcomes vary widely across international studies, reflecting the heterogeneity in study design, follow‐up care, outcome definitions and healthcare settings [16, 17, 18]. Differences in healthcare systems, service availability, population characteristics and long‐term follow‐up models limit the transferability of international findings into the Australian context [5, 19, 20, 21, 22]. Furthermore, most studies addressing long‐term outcomes in CDH are constrained by small sample sizes and population variability due to the rarity of the condition, highlighting challenges in synthesising and applying existing evidence [3, 23].

Within the Australian context, little is known about the long‐term sequelae of children born with CDH. Existing Australian literature has largely focused on antenatal care, neonatal management or intervention‐specific outcomes, with limited synthesis of longer‐term survivorship outcomes across the lifespan [11, 24, 25]. In response to this need, a paper on the ‘top 10 research priorities for CDH in Australia’ was recently published, reflecting the voices of CDH families and healthcare providers [8]. Among these key priority areas, long‐term outcomes featured heavily as an area of concern by the CDH community. In line with Systematic Reviews and Meta‐Analyses Scoping Reviews (PRISMA‐ScR) recommendations to clarify scope and identify knowledge gaps, the objective of this scoping review is to map the available evidence on long‐term health‐related outcomes, in childhood, adolescence or adulthood, in individuals born with CDH in Australia following discharge from a neonatal intensive care unit (NICU). Specifically, we want to:

• Identify and describe the long‐term health‐related outcome and sequelae reported in individuals born with CDH in the Australian context, including, but not limited to, pulmonary, cardiovascular and neurodevelopment.

• Explore trends and patterns in the reported outcomes across different studies.

2. Methods

This paper followed the Joanna Briggs Institute (JBI) protocol for scoping reviews [26]. Scoping review methods were chosen for this paper to identify the nature and extent of current research available in this area, to help inform future research. The preferred reporting items for the PRISMA‐ScR checklist were used to develop the initial protocol and to ensure continued alignment with scoping review methods (Appendix S1).

2.1. Search Strategy

A preliminary grey literature search was performed to identify existing literature on this topic. Identified articles helped to inform the final database keyword search terms. Review methods were used to search three academic databases: Ovid Embase, Scopus and Ovid MEDLINE, for peer‐reviewed journal articles. Key search terms were derived from the JBI methodology of population, context and concept (PCC) [26]. The exact free text/uncontrolled terminology search was: (‘congenital diaphragmatic hernia’ OR ‘diaphragm defect’ OR ‘Morgagni hernia’ OR ‘bochdalek hernia’) AND (‘outcome*’) AND (‘Australia*’) (see Table 1). An additional Google Scholar search was conducted using the same search terms and sequence.

TABLE 1.

Search terms.

	Concept 1	Concept 2	Concept 3
Key concept	Congenital diaphragmatic hernia	Long term outcome	Australia
Free text/uncontrolled terminology	(‘congenital diaphragmatic hernia’ OR ‘diaphragm defect’ OR ‘Morgagni hernia’ OR ‘bochdalek hernia’)	(‘outcome*’)	(‘Australia*’)
Subject term/controlled vocabulary	[Ovid Embase]—Subject heading: Congenital diaphragmatic hernia OR congenital diaphragmatic hernias OR congenital diaphragm defect OR morgagni hernia [Ovid MEDLINE]—Subject heading: Hernias, diaphragmatic, congenital [Scopus]— {congenital diaphragmatic hernia} OR {congenital diaphragmatic hernias}	[Ovid Embase]—Subject heading: Adverse outcome OR adverse outcome pathway OR clinical outcome OR outcome assessment OR treatment outcome [Ovid MEDLINE]—Subject heading: Adverse outcome pathways OR Patient Outcome Assessment OR Outcome Assessment, Health Care OR Treatment Outcome [Scopus]— {outcome} OR {outcomes}	[Ovid Embase]—Subject heading: Australia OR South Australia OR Western Australia [Ovid MEDLINE]—Subject heading: Australia OR South Australia OR Western Australia [Scopus]— {Australia}

2.2. Eligibility Criteria

The database search was restricted to publications in English, published between 1 January 2005 and 16 June 2025, with the final searches occurring on 16 June 2025, which was achieved through selecting ‘current’ for the date limitation option in each database. This 20‐year timeframe was selected to capture a comprehensive range of relevant literature while ensuring the inclusion of up‐to‐date information reflecting recent advances in the identification, diagnosis, management, and treatment of CDH. Using the same search string, the first 50 displayed results available on Google Scholar were assessed for eligibility against the PCC inclusion and exclusion criteria (see Table 2). Google Scholar ranks results by relevance and citation impact; the likelihood of identifying additional high‐quality, unique primary studies falls substantially after the top hits. After exhaustive searches of three academic databases, the first 50 Google Scholar records were screened as a pragmatic, secondary check to capture any highly cited or otherwise relevant items not retrieved in database searches.

TABLE 2.

Inclusion and exclusion criteria.

	Inclusion	Exclusion
Population	Studies involving children and/or adults diagnosed in utero or at birth with CDH, who have been discharged alive from a NICU	Studies involving late presentations or missed diagnosis of CDH, that is, after first discharge from hospital Studies solely focused on prenatal outcomes Studies where CDH was not the primary focus/diagnosis Studies completed on animals
Concept	Studies that report on long‐term outcomes, that is, respiratory outcomes, nutritional support, neurodevelopment	Studies that do not report on long‐term outcomes, that is, surgical technique, neonatal management Studies that focus on prenatal intervention outcomes, that is, Fetoscopic Endotracheal Occlusion
Context	Studies conducted in Australia, including Australian cohorts	Studies outside of Australia, unless they include an Australian cohort
Study types	Primary peer‐reviewed research, cohort studies and case studies Published after 2005 Studies published in English	Editorials, commentaries, letters, conference abstracts, animal studies, in vitro research and dissertations/thesis Published before 2005 Studies not published in English

2.2.1. Population

This scoping review considered all studies that included adults and/or children who had been diagnosed with CDH in utero or at birth, and who had been successfully discharged from NICU, regardless of where in Australia they were born.

2.2.2. Concept

This review considered studies that explored the long‐term outcomes of individuals born with CDH, regardless of whether these outcomes were assessed during childhood, adolescence or adulthood. All types of outcomes were included, regardless of whether they were medical and non‐medical (e.g., physical health, neurodevelopment, psychosocial well‐being, quality of life and functional status).

2.2.3. Context

This review focused on research that was conducted in Australia or international studies that included an Australian cohort.

2.3. Study Selection

After the database and Google Scholar search, all identified citations were exported and collated in a Microsoft Excel spreadsheet. After some pilot testing and removal of duplicates, titles and abstracts were screened for eligibility in relation to the defined inclusion and exclusion criteria, developed using the PCC framework (see Table 2). Two reviewers completed the title and abstract screening process. All published articles that included primary research that reported on CDH outcomes, either conducted in Australia or involving an Australian cohort, were considered for inclusion. Descriptive studies, such as case studies, were also considered. Systematic reviews and non‐peer‐reviewed studies, such as conference abstracts, were excluded (see Table 2).

2.4. Data Extraction and Analysis

Eligible full‐text studies were imported into Zotero. All full‐text articles were reviewed by two reviewers in relation to the inclusion and exclusion criteria. Data extraction was charted in a Microsoft Excel spreadsheet, using the headings—author(s); year; title; state/territory; aim; method; study participants; perinatal treatment; key findings; limitations. Data analysis was conducted by mapping and grouping key themes identified in the data extraction phase, in reference to the long‐term health‐related outcomes of children born with CDH.

3. Results

Initial database searches produced 57 peer‐reviewed articles for consideration, with 38 studies remaining for title and abstract screening after duplicates were removed. Thirty‐four studies were identified from Ovid Embase, 16 from Ovid MEDLINE, and 7 from Scopus (see Figure 1). Of these, three studies met the inclusion criteria. An additional two studies were also identified through the Google Scholar search (see Figure 1). All studies had low numbers in their cohorts, with identified cases ranging from 20 to 215, and live participants ranging from 12 to 119 (see Table 3). Two studies predominantly addressed prenatal and immediate postnatal management and only reported survival at 1 year of age [6, 27]. One study specifically examined the long‐term sequelae in patients who received Extracorporeal Membrane Oxygenation (ECMO) as part of their postnatal care [20]. In the fourth study, the only long‐term outcome focused on was neurodevelopment in children born with CDH in a single hospital where ECMO was not largely utilised; this was not the main focus of the study [5]. The fifth study looked more broadly at medical and psychosocial outcomes in children over the age of 5 years, and did not consider perinatal, or defect size [28].

FIGURE 1.

PRISMA flow chart of study search and selection for inclusion.

TABLE 3.

Summary of study characteristics (n = 5).

Author (year)	State/territory	Aim	Study dates	Method	Participants
Colvin et al. (2005) [27]	Western Australia (WA), Australia	Track CDH incidence, management and outcomes trends over time	1991–2002	Retrospective study	116 cases: 76 born alive and 37 survived beyond 1 year of age
Khachane et al. (2022) [5]	New South Wales (NSW), Australia	Assess CDH outcomes and influencing factors	2003–2018	Retrospective cohort study	159 infants identified: 44 were discharged. 32 were available to be assessed at 1 year of age, and 14 at the 3‐year assessment a
Lee et al. (2018) [6]	Western Australia (WA), Australia	Review CDH management and survival trends	1996–2015	Retrospective study	215 cases: 135 live births and 90 survived beyond 1 year of age
Mattke et al. (2025) [20]	Queensland (QLD), Australia	Evaluate short and long‐term ECMO outcomes in CDH patients	2010–2023	Telephone interviews of parents	20 CDH ECMO cases: 12 alive at time of survey Median age: 6.3 years
Tan et al. (2019) [28]	Western Australia (WA), Australia	Assess long‐term medical and psychosocial outcomes of CDH survivors	1993–2008	Prospective matched case‐controlled study	Children over the age of 5 years old 34 matched case‐controlled pairs

^a Follow‐up was not offered by the healthcare service until 2013.

Prominent themes for long‐term health outcomes and sequelae identified in this review include neurodevelopment and psychosocial; multisystem involvement (depicting more than one organ system); survival at 1 year of age; and quality of life. These are categorised by the following subheadings (see Table 4).

TABLE 4.

Mapping table of themes identified per study (n = 5).

	Survival to 1 year of age	Neurodevelopment and psychosocial	Quality of life	Multisystem
Colvin et al. (2005) [27]	✔
Khachane et al. (2022) [5]		✔
Lee et al. (2018) [6]	✔
Mattke et al. (2025) [20]		✔	✔
Tan et al. (2019) [28]		✔	✔	✔

3.1. Neurodevelopment and Psychosocial

Long‐term neurodevelopment and psychosocial challenges faced by children born with CDH were a theme in three articles [5, 20, 28]. Tan et al. [28] reported higher rates of overall developmental delay in this population group (n = 34), including speech and language impairments (41%), early developmental delay (29%), literacy difficulties (21%) and hyperactivity/attention concerns (30%). Khachane et al. [5] expressed similar findings, reporting below‐average receptive language, low‐average expressive language, and gross motor skills (n = 14). Similarly, Mattke et al. [20] reported that CDH children who received ECMO as part of their postnatal management were more likely to experience mild sensory and motor dysfunction in childhood, with specific challenges like attention and concentration difficulties frequently noted (n = 12). In addition to child‐related outcomes, Tan et al. [28] also highlighted higher rates of parental anxiety in parents of CDH children, demonstrating the broader psychosocial impact that CDH has on families.

3.2. Survival at 1 Year of Age

Survival at 1 year of age was the main long‐term outcome theme identified in two articles [6, 27]. One study by Colvin et al. [27] focused exclusively on survival at 1 year of age within a population‐based cohort (n = 116). A similar study by Lee et al. [6] focused on perinatal management and its relationship to survival at 1 year of age (n = 215), with the purpose of better understanding whether advancements in the postnatal management of CDH have improved survival outcomes.

3.3. Quality of Life

Quality of life was identified as a theme in two articles [20, 28]. Tan et al. [28] compared cases and controls over the age of 11 years using the Comprehensive Quality of Life‐School Children Questionnaire. While the objective axis of the questionnaire (70.2 vs. 79.8; p = 0.05) was lower in children born with CDH, the subjective scores for all domains (74.4 vs. 80.1; p = 0.505) were similar between the two groups, therefore indicating that survivors may adapt to their physical limitations over time. Similarly, Mattke et al. [20] reported that CDH patients in their study had comparable overall paediatric quality of life results, according to the Functional Status Scale and the Paediatric Quality of Life Inventory, to those of other paediatric intensive care unit discharge populations at their healthcare service.

3.4. Multisystem Involvement

Only one article [28] reported long‐term sequelae outcomes in multiple body systems for children born with CDH. All results were obtained through 34 case‐controlled matched pairs (see Table 3).

3.4.1. Cardiovascular

On follow‐up, none of the CDH group had pulmonary artery hypertension, and any indications of mild systolic or diastolic dysfunction was reported as ‘unknown clinical significance’ [28].

3.4.2. Gastrointestinal

Gastro‐oesophageal reflux disease (GORD), and the use of GORD medications was reported to be more prominent in individuals born with CDH. 65% of the CDH group had been diagnosed with GORD, compared to 21% in the control group. Similarly, 31% of the CDH group were using medication for GORD, compared to 3% in the controls [28]. Feeding difficulties were also reported as more common in the CDH group.

3.4.3. Growth and Development

Thirty‐two percent of the CDH group reported poor growth on the parent medical questionnaire in comparison to the 6% in the control group. In addition, it was reported that a higher number of CDH children have seen a dietician for review in regard to their growth.

3.4.4. Musculoskeletal

Children born with CDH were found to have a higher prevalence of chest wall deformities, as identified through a chest computed tomography, when compared with controls [28]. Furthermore, the CDH group demonstrated a higher incidence of scoliosis (46% vs. 0%) and pectus excavatum (23% vs. 0%). These musculoskeletal abnormalities were attributed to asymmetrical lung development that is commonly associated with CDH [28].

3.4.5. Respiratory

Children born with CDH demonstrated a significant difference in respiratory health when compared to their matched control pair [28]. While the rates of asthma diagnosis were not significantly different between the matched pairs (33% vs. 24%), parents of children born with CDH reported a higher use of inhaled asthma medication in the last 3 months (31% vs. 9%). They also more frequently reported experiencing shortness of breath when well (27% vs. 0%) or during physical activity (58% vs. 3%), with reduced activity levels compared to their control pair (21% vs. 3%) [28]. In addition, children born with CDH exhibited higher rates of obstructive airways disease and impaired lung function. Tan et al. [28] found that children born with CDH had significantly higher rates of altered respiratory mechanics, characterised by increased airway resistance and reduced reactance, which was measured through tests such as the forced oscillation technique and spirometry. Disrupted sleep due to chest symptoms was also highlighted as a significant difference between CDH children (33%) and their matched control pair (6%) [28].

4. Discussion

The purpose of this scoping review was to identify, explore and map the currently available literature relating to long‐term health outcomes and sequelae for individuals born with CDH in Australia. Overall, with only five studies identified [5, 6, 20, 27, 28], this review highlighted that there is a significant gap in the literature in relation to understanding the long‐term health‐related outcomes and sequelae that individuals born with CDH in Australia may face in childhood, adolescence and adulthood.

Across all five studies, the severity of the CDH and the perinatal care varied. Some included participants who received prenatal interventions, had varied postnatal care, and some had larger defects resulting in different organs being displaced. Regardless of the care needed, the themes were consistent across all studies. Individuals born with CDH in Australia were reported to be more likely to have long‐term neurodevelopment and psychosocial challenges, including overall developmental delays and higher rates of hyperactivity/concentration disorders, particularly in those who received ECMO [5, 20, 28]. This review also identified that individuals born with CDH were more likely to have complex medical needs when compared to a case‐controlled peer. Encouragingly, this review also identified that individuals born with CDH were considered to have equal quality of life scores when compared to other groups, demonstrating this group's resilience and ability to adapt to any physical limitations over time.

When contextualised against international literature, it is difficult to determine how Australia compares, due to the age of many studies and small cohort sizes, limiting meaningful comparison with larger, more recent international research [5, 6, 9, 20, 28, 29, 30, 31, 32]. Despite this, Australian studies identify themes of neurodevelopment, gastrointestinal and respiratory morbidity that align closely with international findings [7, 30, 31]. Although international studies often include larger cohorts and therefore may offer greater precision in estimating long‐term outcomes for rare conditions such as CDH, they remain constrained by the rarity of the condition and the learnings are not always directly relatable to the Australian context [3, 30, 33]. While duplication of large international studies in Australia may not be feasible or necessary, international care strategies and pathways should be carefully considered and appropriately adapted to reflect Australian populations, healthcare structures, and geographical challenges [34, 35]. Understanding long‐term health‐related outcomes and sequelae in individuals born with CDH is increasingly important as survival improves and the focus shifts beyond postnatal management towards lifelong health, quality of life and future care needs [7, 36, 37]. To date, Australian literature has understandably prioritised early management and survival; however, greater insight into long‐term morbidities is essential to inform follow‐up procedures, guide care pathways, identify risk factors, and support targeted prenatal counselling that extends beyond survival to encompass holistic long‐term outcomes within the Australian context [5, 7, 28].

4.1. Limitations and Strengths of This Review

The strengths of this scoping review included the use of peer‐reviewed studies that included outcomes for individuals born with CDH after discharge from the NICU, the use of a rigorous framework providing the foundations for the methodology, and a structured and transparent protocol, particularly through the inclusion and exclusion criteria. However, some limitations did exist. Only five studies were identified. The integrity of the included studies was not assessed in this review, as per the JBI scoping review protocol [26]. For two of the included studies [6, 27]. CDH long‐term outcomes were not the primary focus, and survival until 1 year of age was only included as part of the perinatal study period. In addition, all studies included were based on smaller sample sizes, from either one healthcare service or one state/territory, and some of the time periods overlapped; therefore, some participants may have been represented multiple times (see Table 3). These findings may not be representative of the whole Australian CDH population, as care delivery and CDH protocols may vary depending on the state and facility, which may influence the overall outcomes. Only four of the eight Australian states and territories were represented in the findings. The hospital type (e.g., tertiary, regional or rural hospital) was not evaluated for this scoping review.

4.2. Implications for Practice and Research

The identified gap in the Australian literature highlights the need for further study into the long‐term outcomes of CDH. While some themes, such as neurodevelopment, seem broadly consistent with international findings, the absence of recent data and longitudinal Australian data limits the ability to contextualise global evidence to local practice. For researchers, this underpins the importance of including Australian cohorts in international collaborations so that findings can be adapted to Australia's unique healthcare landscape, including the rural health context. For clinicians, these findings emphasise the need for consistent, structured follow‐up of CDH survivors. Addressing these gaps will help ensure that international advances can be translated more effectively into the Australian setting and that a model of care will more accurately reflect the specific needs of this group.

5. Conclusion

This scoping review explored and reviewed the available literature on long‐term health‐related outcomes and sequelae for individuals born with CDH in Australia. Unsurprisingly, only a small number of articles were identified, given that the focus was placed on Australia and studies that included an Australian cohort. The findings of this review demonstrate that a number of long‐term sequelae exist within this population group, including, but not limited to, neurodevelopment challenges, respiratory differences and growth concerns. The lack of identified literature demonstrates a significant gap in research in this area and signifies the need for further research to better understand the overall long‐term health needs and consequent follow‐up care of this population group.

Author Contributions

C.S. led and conceptualised the study. C.S. and J.C. curated and analysed the data and drafted a manuscript. All authors reviewed and edited the final version of the manuscript.

Funding

The authors have nothing to report.

Conflicts of Interest

The authors declare no conflicts of interest.

Supporting information

Data S1: Appendix.

Data Availability Statement

Data sharing not applicable to this article as no datasets were generated or analysed during the current study.