Validation of a Prediction Rule for Mortality in Congenital Diaphragmatic Hernia

Otter, Suzan C M Cochius-den; Erdem, Özge; Rosmalen, Joost van; Schaible, Thomas; Peters, N.; Cohen–Overbeek, Titia E.; Capolupo, Irma; Falk, Carolin J.; Heijst, Arno F J van; Schäffelder, Regina; Brindle, Mary; Tibboel, Dick

doi:10.1542/peds.2019-2379

Cited by 17 publications

(10 citation statements)

References 38 publications

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“…Possibly this could be explained by the different definitions of postnatal outcome parameters (number of days of ventilation vs. presence of CLD) in their study compared to our study and previous studies. 33 In addition, the same effect was seen for Grades 2 and 3 and gastrointestinal outcomes. These results seem in concordance with Cordier et al.…”

Section: Discussionmentioning

confidence: 72%

“…In contrast, the incidence of need for treatment of PH in our study (45%) is lower than previously reported incidence rates (>60%). These incidences are based, however, on diagnosis of PH by echocardiography, not purely on need for treatment 32–34 . In general, PH is defined as pulmonary pressures higher than two‐thirds of the systemic pressures on echocardiography, measured at the first day of life.…”

Section: Discussionmentioning

confidence: 99%

“…These incidences are based, however, on diagnosis of PH by echocardiography, not purely on need for treatment. 32 , 33 , 34 In general, PH is defined as pulmonary pressures higher than two‐thirds of the systemic pressures on echocardiography, measured at the first day of life. In our opinion this definition for PH overestimates the number of children with a clinical need for treatment of PH, as was shown by our data.…”

Section: Discussionmentioning

confidence: 99%

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Prenatal stomach position and volume in relation to postnatal outcomes in left‐sided congenital diaphragmatic hernia

et al. 2021

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Objective: To examine the association between prenatal stomach position (SP) grade and stomach volume (SV) and the need for pulmonary hypertension (PH) treatment after birth in prenatally diagnosed left-sided congenital diaphragmatic hernia (CDH), live born >34 weeks. Methods:In retrospect, SP grade and SV were determined in fetuses with isolated left-sided CDH from 19 weeks gestational age (GA) onwards at three different time periods (≤24 weeks' GA: US1, 24-30 weeks' GA: US2; ≥30 weeks' GA: US3). Primary outcome was need for treatment of PH after birth. Secondary analyses included the predictive value of SP and SV for other respiratory outcomes and postnatal defect size.Results: A total of 101 fetuses were included. SP grade was significantly associated with need for treatment of PH (US1, US2, and US3: p < 0.02). Also, prenatal SP grade was positively associated with defect size and development of chronic lung disease (CLD) in survivors. No association was found between SV and respiratory morbidities or postnatal defect size. Conclusion:SP grade in left-sided CDH fetuses is associated with an increased need for PH treatment, a larger postnatal defect size and CLD in survivors. We consider SP determination a valuable contribution to the prenatal assessment of left-sided CDH. Key pointsWhat is already known about this topic? � Prenatal stomach position (SP) grade has been proposed as a predictive ultrasound parameter for postnatal survival, patch repair, need for extracorporeal membrane oxygenation and need for prolonged respiratory support in left-sided congenital diaphragmatic hernia (CDH).This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

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Section: Discussionmentioning

confidence: 72%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Prenatal stomach position and volume in relation to postnatal outcomes in left‐sided congenital diaphragmatic hernia

et al. 2021

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“…CDH may present as an isolated anomaly (isolated-CDH) or patients can have one or more additional anomalies (CDH-complex) ( 1 , 31 ). Anomalies can be found in all body sites; cardiac anomalies, anomalies of the urogenital system, limb malformations, nervous system anomalies, orofacial clefts, and gastrointestinal anomalies including intestinal atresia ( 3 , 32 ).…”

Section: Isolated Cdh and Complex Cdhmentioning

confidence: 99%

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge

et al. 2022

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Congenital diaphragmatic hernia (CDH) is a congenital structural anomaly in which the diaphragm has not developed properly. It may occur either as an isolated anomaly or with additional anomalies. It is thought to be a multifactorial disease in which genetic factors could either substantially contribute to or directly result in the developmental defect. Patients with aneuploidies, pathogenic variants or de novo Copy Number Variations (CNVs) impacting specific genes and loci develop CDH typically in the form of a monogenetic syndrome. These patients often have other associated anatomical malformations. In patients without a known monogenetic syndrome, an increased genetic burden of de novo coding variants contributes to disease development. In early years, genetic evaluation was based on karyotyping and SNP-array. Today, genomes are commonly analyzed with next generation sequencing (NGS) based approaches. While more potential pathogenic variants are being detected, analysis of the data presents a bottleneck—largely due to the lack of full appreciation of the functional consequence and/or relevance of the detected variant. The exact heritability of CDH is still unknown. Damaging de novo alterations are associated with the more severe and complex phenotypes and worse clinical outcome. Phenotypic, genetic—and likely mechanistic—variability hampers individualpatient diagnosis, short and long-term morbidity prediction and subsequent care strategies. Detailed phenotyping, clinical follow-up at regular intervals and detailed registries are needed to find associations between long-term morbidity, genetic alterations, and clinical parameters. Since CDH is a relatively rare disorder with only a few recurrent changes large cohorts of patients are needed to identify genetic associations. Retrospective whole genome sequencing of historical patient cohorts using will yield valuable data from which today's patients and parents will profit Trio whole genome sequencing has an excellent potential for future re-analysis and data-sharing increasing the chance to provide a genetic diagnosis and predict clinical prognosis. In this review, we explore the pitfalls and challenges in the analysis and interpretation of genetic information, present what is currently known and what still needs further study, and propose strategies to reap the benefits of genetic screening.

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“…Consequently, this period also enables clinicians a chance to determine the severity of the congenital abnormality by monitoring physiological parameters and/or ventilatory requirements. There are already several scoring systems to determine the risk of adverse outcomes available, such as the Score for Neonatal Acute Physiology-II (SNAP-II) score, Wilford Hall/Santa Rosa prediction model and the Brindle scoring model (36)(37)(38)(39)(40). Most of these scoring systems are combining several clinical parameters (such as blood pressure, serum pH, fraction of inspired oxygen FiO 2 ) yet the majority of these scoring systems use the worst values of the parameters within the first 12-24 h (37)(38)(39).…”

Section: Early Predictors Of Adverse Outcomementioning

confidence: 99%

Knowledge Gaps in the Fetal to Neonatal Transition of Infants With a Congenital Diaphragmatic Hernia

et al. 2021

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Clinical research for infants born with a congenital diaphragmatic hernia (CDH) has until recently mainly focused on advances in prenatal and postnatal treatment. However, during the early perinatal transition period there are major physiological adaptations. For most infants these changes will happen uneventfully, but for CDH infants this marks the beginning of serious respiratory complications. In recent years, there is emerging evidence that the clinical management during the perinatal stabilization period in the delivery room may influence postnatal outcomes. Herein, we discuss major knowledge gaps and novel concepts that aim to optimize fetal to neonatal transition for infants with CDH. One such novel and interesting approach is performing resuscitation with an intact umbilical cord, the efficacy of this procedure is currently being investigated in several clinical trials. Furthermore, close evaluation of neonatal physiological parameters in the first 24 h of life might provide early clues concerning the severity of lung hypoplasia and the risk of adverse outcomes. We will provide an overview of trending concepts and discuss potential areas for future research.

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Validation of a Prediction Rule for Mortality in Congenital Diaphragmatic Hernia

Cited by 17 publications

References 38 publications

Prenatal stomach position and volume in relation to postnatal outcomes in left‐sided congenital diaphragmatic hernia

Prenatal stomach position and volume in relation to postnatal outcomes in left‐sided congenital diaphragmatic hernia

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge

Knowledge Gaps in the Fetal to Neonatal Transition of Infants With a Congenital Diaphragmatic Hernia

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