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Open research questions in Congenital Diaphragmatic Hernia Studies

95 gap statements mined from Congenital Diaphragmatic Hernia Studies papers in our 4.5M-paper local library, which holds 518 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.

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What the literature leaves open

  • The study is limited to cases submitted to the International PPB/DICER1 Registry. The study is retrospective in nature.

    Pleuropulmonary Blastoma and Diagnostic Pitfalls: A Report from the International Pleuropulmonary Blastoma/DICER1 Registry · 2026 · DOI

  • There is a need for improved diagnostic techniques for PPB. The variability of PPB diagnoses is not well understood.

    Pleuropulmonary Blastoma and Diagnostic Pitfalls: A Report from the International Pleuropulmonary Blastoma/DICER1 Registry · 2026 · DOI

  • Limited information on related histological and molecular changes. Need for a more accurate and non-invasive method for monitoring fetal lung development. Complexity of fetal lung development.

    Multimodal deep learning fusion model for assessment of fetal lung development in gestational diabetes mellitus and pre-eclampsia · 2026 · DOI

  • Current clinical evaluation has limitations in assessing fetal lung development. There is a need for a more accurate and non-invasive method for monitoring fetal lung development.

    Multimodal deep learning fusion model for assessment of fetal lung development in gestational diabetes mellitus and pre-eclampsia · 2026 · DOI

  • There is a need to consider congenital pulmonary anomalies in patients with unexplained or severe pulmonary infections. There is a lack of awareness about the presentation of pulmonary sequestration in young adults.

    Undiagnosed Pulmonary Sequestration in a Young Adult Presenting As Necrotizing Pneumonia and Sepsis · 2026 · DOI

  • Diaphragmatic hernia after LRYGB is a rare but life-threatening complication. There is a need for increased awareness and understanding of this complication.

    CT Findings of Incarcerated Diaphragmatic Hernia After Laparoscopic Roux-en-Y Gastric Bypass: A Rare Case Report · 2026 · DOI

  • There is a lack of understanding of CPAM in preterm neonates with late-onset sepsis. The diagnosis of CPAM in preterm neonates is often delayed or missed.

    Methicillin Resistant Staphylococcus Aureus Colonization, The Tip of the Iceberg for Congenital Pulmonary Airway Malformation. A Case Report. · 2026 · DOI

  • The study has a limited sample size. The study only examines infants born at Texas Children's Hospital. The study does not examine the long-term outcomes of infants with congenital diaphragmatic hernia.

    Predictors of challenging initial intubation and association with outcomes in congenital diaphragmatic hernia · 2026 · DOI

  • There is a lack of understanding of the predictors of challenging initial intubation in infants with congenital diaphragmatic hernia. There is a lack of understanding of the association between intubation difficulty and adverse outcomes in infants with congenital diaphragmatic hernia.

    Predictors of challenging initial intubation and association with outcomes in congenital diaphragmatic hernia · 2026 · DOI

  • Short follow-up duration and Selection bias toward stable surgical candidates also were from the limitation of this study. Furthermore, the ‘normal’ GLS for a CDH neonate is not well established; some data suggest these patients exhibit subclinical dysfunction even when EF is preserved.

    Cardiac performance and left ventricular dimensions in neonates with left-sided congenital diaphragmatic hernia before and after surgical repair · 2026 · DOI

  • Second, CPSS should be investigated in children with severe or unexplained PAH, especially when liver dysfunction, hyperammonemia, or abnormal portal venous anatomy is present.

    Severe pulmonary arterial hypertension associated with congenital portosystemic shunt presenting as acute liver failure in a child · 2026 · DOI

  • Diagnosis of extralobar pulmonary sequestration can be challenging due to its rarity and nonspecific symptoms. Torsion and infarction can occur, leading to severe complications. There is a need for more research on the diagnosis and treatment of extralobar pulmonary sequestration.

    Thoracoscopic management of easily neglected extralobar pulmonary sequestration presenting with torsion and infarction in children: three case reports and literature review · 2026 · DOI

  • There is a lack of awareness and understanding of extralobar pulmonary sequestration among clinicians. The condition is often misdiagnosed or underdiagnosed. There is a need for more research on the diagnosis and treatment of extralobar pulmonary sequestration.

    Thoracoscopic management of easily neglected extralobar pulmonary sequestration presenting with torsion and infarction in children: three case reports and literature review · 2026 · DOI

  • The relationship between congenital pulmonary airway malformation type IV and pleuropulmonary blastoma type I is not well understood. There is a need to understand the potential progression from one lesion to the other.

    Malformación congénita de la vía aérea pulmonar tipo IV y blastoma pleuropulmonar tipo I, ¿benigno, maligno o expresión patológica de una misma entidad? Caso clínico · 2026 · DOI

  • Although the precise embryological mechanisms remain incompletely understood, aberrant airway branching during the pseudoglandular stage of lung development is considered the principal pathogenic event, leading to replacement of normal pulmonary parenchyma by cystic, dysplastic airways of varying size and complexity.

    A Large Congenital Pulmonary Airway Malformation Mimicking a Cystic Thoracic Mass in an Infant: A Case Report · 2026 · DOI

  • There is a lack of understanding of hybrid congenital lung lesions. The diagnosis and management of these conditions can be challenging due to their rarity.

    Hybrid Congenital Lung Lesion: Pulmonary Sequestration with Congenital Pulmonary Airway Malformation in a 7-Day-Old Neonate: A Case Report · 2026 · DOI

  • Diagnosis of CLE can be challenging, particularly in asymptomatic cases. Management of CLE requires careful consideration of the risks and benefits of surgical intervention. There is a need for more research on the long-term outcomes of patients with CLE.

    Congenital lobar emphysema: a 10-year case series review · 2026 · DOI

  • There is a lack of understanding of the causes of CLE, with the cause unknown in 50% of cases. There is a need for more research on the diagnosis and management of CLE.

    Congenital lobar emphysema: a 10-year case series review · 2026 · DOI

  • The distinction between CPAM and PS is clinically important, as lesion morphology and vascular anatomy determine the most appropriate minimally invasive option. Procedure-related complications, such as intravascular injection and cardiovascular instability, are clinically important and indicate that treatment safety remains operator-dependent.

    Minimally invasive therapeutic approach to fetal congenital pulmonary airway malformation: Case report and literature review · 2026 · DOI

  • Reporting quality was heterogeneous, particularly for CVR values and prior corticosteroid use. Procedure-related complications, such as intravascular injection and cardiovascular instability, were clinically important and indicate that treatment safety remains operator-dependent.

    Minimally invasive therapeutic approach to fetal congenital pulmonary airway malformation: Case report and literature review · 2026 · DOI

  • Early diagnosis of post-traumatic diaphragmatic injury remains challenging. Clinical signs may be nonspecific and masked by associated thoracoabdominal injuries.

    Intrathoracic gastric perforation secondary to post-traumatic diaphragmatic rupture: a case report · 2026 · DOI

  • SLS is an underrecognized pulmonary manifestation of SLE that typically presents with unexplained dyspnea, a restrictive ventilatory defect on PFT, elevated hemidiaphragm, and minimal radiological abnormalities.

    Suspected shrinking lung syndrome: a rare pulmonary manifestation of systemic lupus erythematosus—a case-based review of an underrecognized condition · 2026 · DOI

  • This case adds to the growing but still sparse literature by highlighting the characteristic third-trimester presentation, rapid interval growth, and association with fetal hydrops that distinguish FLIT from more common congenital lung malformations.

    Fetal lung interstitial tumor (FLIT): a case report and review of prenatal imaging features · 2026 · DOI

  • Unresolved Questions and Future Directions John T. Wren, Jr. 1,*, Neil Patel 2, Patrick J. McNamara 1 and Patrick Sloan 3 1 Department of Pediatrics, University of Iowa, Iowa City, IA 52240, USA 2 Department of Neonatology, Royal Hospital for Children, Glasgow G51 4TF, UK 3 Department of Pediatrics, Washington University in St. Louis, St.

    Hemodynamic Phenotypes in Congenital Diaphragmatic Hernia: Unresolved Questions and Future Directions · 2026 · DOI

  • Adverse events may make long-term administration of TMP-SMX difficult - Nocardia species can exhibit resistance to various antibiotics - Practical constraints such as the need for prolonged intravenous administration or the risk of treatment-related adverse…

    Successful Treatment with Surgical Resection for Nocardia cyriacigeorgica Infection in Pulmonary Sequestration · 2026 · DOI

Most-cited papers in Congenital Diaphragmatic Hernia Studies

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Open questions raised by papers listed on this page include: (1) There is a need for a more accurate and non-invasive method for monitoring fetal lung development (“Multimodal deep learning fusion model for assessment of fetal lung development…”, 2026); (2) There is a need to consider congenital pulmonary anomalies in patients with unexplained or severe pulmonary infections (“Undiagnosed Pulmonary Sequestration in a Young Adult Presenting As Necrotizing…”, 2026); (3) There is a need for increased awareness and understanding of this complication (“CT Findings of Incarcerated Diaphragmatic Hernia After Laparoscopic Roux-en-Y…”, 2026); (4) There is a lack of understanding of CPAM in preterm neonates with late-onset sepsis (“Methicillin Resistant Staphylococcus Aureus Colonization, The Tip of the…”, 2026); (5) There is a lack of understanding of the predictors of challenging initial intubation in infants with congenital diaphragmatic hernia (“Predictors of challenging initial intubation and association with outcomes in…”, 2026). 95 gap statements have been mined from Congenital Diaphragmatic Hernia Studies papers in our 4.5M-paper local library, which holds 518 papers on the topic; the gaps come from whichever of those papers state one. They are mostly the research gaps the authors state and the papers' abstracts, plus future-work, limitations and challenges passages. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one, so you can read the original claim in context.

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