Review
Biochemistry & Molecular Biology
Giulia Cannata, Chiara Caporilli, Federica Grassi, Serafina Perrone, Susanna Esposito
Summary: Congenital diaphragmatic hernia is a common yet life-threatening birth defect primarily affecting the lungs, leading to significant mortality and morbidity. Identifying harmful de novo variants in fetuses may be an important tool for medical teams during pregnancy, counseling, and childbirth. Understanding the genetic causes of CDH is crucial for developing new therapeutic strategies and providing evidence-based genetic counseling to parents.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Pediatrics
Erwin Brosens, Nina C. J. Peters, Kim S. van Weelden, Charlotte Bendixen, Rutger W. W. Brouwer, Frank Sleutels, Hennie T. Bruggenwirth, Wilfred F. J. van Ijcken, Danielle C. M. Veenma, Suzan C. M. Cochius-Den Otter, Rene M. H. Wijnen, Alex J. Eggink, Marieke F. van Dooren, Heiko Martin Reutter, Robbert J. Rottier, J. Marco Schnater, Dick Tibboel, Annelies de Klein
Summary: Congenital diaphragmatic hernia (CDH) is a congenital structural anomaly characterized by the improper development of the diaphragm. It can occur alone or with other anomalies. CDH is believed to be a multifactorial disease, with genetic factors playing a significant role in its development. Genetic evaluation has evolved from karyotyping and SNP-array to next-generation sequencing. The exact heritability of CDH is still unknown, and the variability in phenotype, genetics, and mechanisms hampers diagnosis, prognosis, and care strategies for individual patients.
FRONTIERS IN PEDIATRICS
(2022)
Article
Medicine, General & Internal
Ricards Kaulins, Laura Ramona Rozite, Mara Pilmane, Aigars Petersons
Summary: Congenital diaphragm hernia (CDH) is a congenital disease that occurs during prenatal development with significant morbidity and mortality rates. This study evaluated the expression of various growth factors and markers in CDH pathological tissues, revealing multiple morphopathogenetic pathways at play in CDH pathogenesis.
Review
Pediatrics
Florian Friedmacher, Udo Rolle, Prem Puri
Summary: This article provides an up-to-date overview of congenital diaphragmatic hernia (CDH), including its implicated transcription factors, molecules regulating cell migration, and components contributing to extracellular matrix formation. The article also discusses the significance of genetic models in studying altered lung development in relation to the human situation.
FRONTIERS IN PEDIATRICS
(2022)
Review
Surgery
Maria-Carmen Fernandez-Moreno, Maria-Eugenia Barrios Carvajal, Fernando Lopez Mozos, Marina Garces Albir, Roberto Marti Obiol, Joaquin Ortega
Summary: This study analyzed the management of patients with DH at the institution, revealing that most patients required surgical treatment using abdominal approach, including open and laparoscopic surgery. Postoperative morbidity and mortality rates were low, with no recurrences detected.
SURGICAL ENDOSCOPY AND OTHER INTERVENTIONAL TECHNIQUES
(2022)
Review
Pediatrics
Gabriela G. Edel, Gerben Schaaf, Rene M. H. Wijnen, Dick Tibboel, Gabrielle Kardon, Robbert J. Rottier
Summary: Congenital diaphragmatic hernia (CDH) is a structural birth defect characterized by diaphragmatic defect, lung hypoplasia, and structural vascular defects. Despite recent developments, the pathogenesis of CDH remains poorly understood. It is a complex congenital disorder with multifactorial etiology involving genetic, cellular, and mechanical factors.
FRONTIERS IN PEDIATRICS
(2021)
Article
Pediatrics
Katherine C. Ott, Michael Bi, Federico Scorletti, Saad A. Ranginwala, William S. Marriott, Jose L. Peiro, Beth M. Kline-Fath, Amir M. Alhajjat, Aimen F. Shaaban
Summary: Liver herniation affects lung development and can lead to clinically significant pulmonary hypoplasia and pulmonary hypertension. It has been found that the liver grows faster in right-sided fetuses compared to left-sided fetuses, and there is a positive correlation between liver growth and lung growth when the liver remains entirely within the abdomen. However, this positive correlation is lost when the liver is herniated above the diaphragm.
FRONTIERS IN PEDIATRICS
(2022)
Article
Pediatrics
R. Gregorio-Hernandez, C. Ramos-Navarro, S. Vigil-Vazquez, E. Rodriguez-Corrales, A. Perez-Perez, M. Arriaga-Redondo, M. Sanchez-Luna
Summary: Lung ultrasound is a valuable tool for assessing pulmonary aeration in neonates, including those with congenital diaphragmatic hernia (CDH). In this study, lung ultrasound examinations were performed on 8 CDH patients before and after surgical correction, and compared between two groups based on mechanical ventilation duration. Lung ultrasound showed potential for diagnosing postoperative complications without radiation exposure and offered quick and serial assessments. These findings highlight the importance of lung ultrasound as an effective alternative to conventional imaging methods in managing CDH.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Review
Emergency Medicine
Mario Giuffrida, Gennaro Perrone, Fikri Abu-Zidan, Vanni Agnoletti, Luca Ansaloni, Gian Luca Baiocchi, Cino Bendinelli, Walter L. Biffl, Luigi Bonavina, Francesca Bravi, Paolo Carcoforo, Marco Ceresoli, Alain Chichom-Mefire, Federico Coccolini, Raul Coimbra, Nicola de'Angelis, Marc de Moya, Belinda De Simone, Salomone Di Saverio, Gustavo Pereira Fraga, Joseph Galante, Rao Ivatury, Jeffry Kashuk, Michael Denis Kelly, Andrew W. Kirkpatrick, Yoram Kluger, Kaoru Koike, Ari Leppaniemi, Ronald V. Maier, Ernest Eugene Moore, Andrew Peitzmann, Boris Sakakushev, Massimo Sartelli, Michael Sugrue, Brian W. C. A. Tian, Richard Ten Broek, Carlo Vallicelli, Imtaz Wani, Dieter G. Weber, Giovanni Docimo, Fausto Catena
Summary: Complicated diaphragmatic hernia is a rare life-threatening condition diagnosed by CT scan. Laparoscopic repair is the preferred treatment for stable patients, while open surgery or Damage Control Surgery is necessary for unstable patients.
WORLD JOURNAL OF EMERGENCY SURGERY
(2023)
Article
Biotechnology & Applied Microbiology
Shiho Yoshida, Alexander M. Kreger, George K. Gittes
Summary: We propose that intra-amniotic sildenafil administration is an effective prenatal therapy for CDH-induced pulmonary hypertension. Intra-amniotic sildenafil treatment attenuated peripheral vascular muscularization, enhanced pulmonary blood flow, and improved lung architecture in CDH fetuses. Early intervention with intra-amniotic sildenafil treatment may be preferable to accelerate lung development and improve prognosis in CDH cases.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2023)
Article
Physiology
Krithika Lingappan, Oluyinka O. Olutoye, Abiud Cantu, Manuel Eliezer Cantu Gutierrez, Nahir Cortes-Santiago, J. D. Hammond, Jamie Gilley, Joselyn Rojas Quintero, Hui Li, Francesca Polverino, Jason P. Gleghorn, Sundeep G. Keswani
Summary: This is the first application of spatial transcriptomics in patients with CDH, revealing the contribution of different lung cellular subpopulations in CDH pathophysiology and highlighting sex-specific differences.
AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY
(2023)
Review
Pediatrics
Kylie I. Holden, Matthew T. Harting
Summary: Congenital diaphragmatic hernia (CDH) is a complex cardiopulmonary anomaly requiring intense critical care management. New approaches in thinking and management, including risk stratification, ECLS, and novel therapies, offer hope for high-risk CDH patients. Further research and guidelines are essential for optimizing the care of these infants.
TRANSLATIONAL PEDIATRICS
(2023)
Article
Pediatrics
Maria Eugenia Gulino, Giuseppe Martucciello, Elio Biffali, Patrizia Morbini, Roberta Patti, Marco Borra, Maria Grazia Scuderi
Summary: This study aimed to evaluate the role of TITF1 gene in the pathogenesis of congenital diaphragmatic hernia (CDH) in humans. The results showed that TITF1 gene mutations do not play a key role in the etiopathogenesis of CDH.
Review
Biochemistry & Molecular Biology
Flaminia Pugnaloni, Irma Capolupo, Neil Patel, Paola Giliberti, Andrea Dotta, Pietro Bagolan, Florian Kipfmueller
Summary: This review highlights the importance of miRNAs in CDH-related PH and summarizes the findings from animal and human CDH studies. The focus on epigenetic modulators of CDH-PH offers potential for developing innovative diagnostic tools and treatment approaches, and enhances researchers' understanding of CDH pathophysiology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Louise Cleal, Sophie L. McHaffie, Martin Lee, Nick Hastie, Ofelia M. Martinez-Estrada, You-Ying Chau
Summary: Congenital diaphragmatic hernia (CDH) is a common developmental defect with high morbidity. Research suggests that the formation of the diaphragm involves multiple cell types, with the etiology being complex and unclear. The study highlights the importance of non-muscle mesenchyme in diaphragm development, showing that abnormalities in this cell population can lead to CDH.
DISEASE MODELS & MECHANISMS
(2021)
Article
Obstetrics & Gynecology
Ann-Sophie Page, Jan Y. Verbakel, Johan Verhaeghe, Yani P. Latul, Susanne Housmans, Jan Deprest
Summary: The study aimed to assess whether CO2 laser treatment is more effective than sham application in relieving symptoms in women with genitourinary syndrome of menopause (GSM). The results showed that the treatment response after 12 weeks of laser application was comparable to that of the sham applications, and no serious adverse events were reported.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2023)
Article
Engineering, Biomedical
Sophia Bano, Francisco Vasconcelos, Anna L. David, Jan Deprest, Danail Stoyanov
Summary: Fetoscopic video mosaicking can create an expanded field-of-view image of the fetoscopic intraoperative environment to support surgeons during twin-to-twin transfusion syndrome treatment. However, existing methods relying on vessel presence have limitations. We propose a vessel-guided hybrid fetoscopic mosaicking framework that combines placental vessel-based registration and deep learning-based dense matching to improve overall performance. Experimental results demonstrate the robustness of the proposed framework over state-of-the-art methods, even in vessel-free and low-textured fetoscopic views.
COMPUTER METHODS IN BIOMECHANICS AND BIOMEDICAL ENGINEERING-IMAGING AND VISUALIZATION
(2023)
Article
Clinical Neurology
T. Deprest, L. Fidon, F. De Keyzer, M. Ebner, J. Deprest, P. Demaerel, L. De Catte, T. Vercauteren, S. Ourselin, S. Dymarkowski, M. Aertsen
Summary: This study tested an algorithm for segmenting abnormal fetal brains and found that it achieved good results in fetuses with severe brain abnormalities. However, it is necessary to include rare cases in the current dataset and quality control measures should be implemented to prevent occasional errors.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2023)
Article
Obstetrics & Gynecology
Emily J. J. Horn-Oudshoorn, Francesca M. Russo, Jan A. Deprest, Florian Kipfmueller, Annegret Geipel, Thomas Schaible, Neysan Rafat, Anne-Gael Cordier, Alexandra Benachi, Nimrah Abbasi, Priscilla P. L. Chiu, Willem P. de Boode, Esther Sikkel, Nina C. J. Peters, Bettina E. Hansen, Irwin K. M. Reiss, Philip L. J. DeKoninck
Summary: This retrospective cohort study aimed to describe the outcomes of preterm born infants with congenital diaphragmatic hernia (CDH) and investigate the associations between prenatal imaging markers and survival. The results showed that prenatal imaging markers, including lung-to-head ratio, stomach position, and total fetal lung volume, were associated with postnatal survival in infants with CDH born at or before 32 weeks of gestation.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Ilse Parijs, Nathalie Brison, Leen Vancoillie, Machteld Baetens, Bettina Blaumeiser, Sebastien Boulanger, Julie Desir, Boyan Dimitrov, Nathalie Fieremans, Katrien Janssens, Sandra Janssens, Axel Marichal, Bjorn Menten, Colombine Meunier, Kim Van Berkel, Ann Van Den Bogaert, Koenraad Devriendt, Kris Van Den Bogaert, Joris Robert Vermeesch
Summary: Maternally inherited 15q11-q13 duplications are associated with more severe neurodevelopmental anomalies, while paternally inherited duplications are normal or associated with milder phenotypes. Our analysis of low coverage genome-wide cell-free DNA sequencing data from pregnant women confirms this difference in impact and recommends appropriate genetic counselling for women with 15q11-q13 duplications identified during non-invasive prenatal screening.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Maria Siermann, Ophelia Valcke, Joris Robert Vermeesch, Taneli Raivio, Olga Tsuiko, Pascal Borry
Summary: A qualitative study was conducted on healthcare professionals' perspectives towards PGT-P. Most professionals believed that it is premature to implement PGT-P due to ethical concerns and presented various considerations including validity, limitations, and potential benefits.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Jhih-Rong Lin, Yingjie Zhao, M. Reza Jabalameli, Nha Nguyen, Joydeep Mitra, Ann Swillen, Jacob A. S. Vorstman, Eva W. C. Chow, Marianne van den Bree, Beverly S. Emanuel, Joris R. Vermeesch, Michael J. Owen, Nigel M. Williams, Anne S. Bassett, Donna M. McDonald-McGinn, Raquel E. Gur, Carrie E. Bearden, Bernice E. Morrow, Herbert M. Lachman, Zhengdong D. Zhang
Summary: 22q11.2 deletion is a strong genetic risk factor for schizophrenia. Whole-genome sequencing of schizophrenia cases and controls with this deletion revealed the effects of rare coding variants in modifier genes, contributing to the pathogenesis of schizophrenia. The modifier genes affected synaptic function and developmental disorders and were coexpressed with 22q11.2 genes in specific brain regions.
MOLECULAR PSYCHIATRY
(2023)
Letter
Medical Laboratory Technology
Margot van Riel, Yan Zhao, Tatjana Jatsenko, Lore Lannoo, Dirk Timmerman, Joris R. Vermeesch
CLINICAL CHEMISTRY
(2023)
Article
Obstetrics & Gynecology
Emma Bauters, Ann-Sophie Page, Laura Cattani, Susanne Housmans, Frank Van der Aa, Andre D'Hoore, Jan Deprest
Summary: This study compared the outcomes of 39 patients who underwent redo laparoscopic sacrocolpopexy (LSCP) with 156 patients who had primary LSCP, and found that redo LSCP carries a higher risk of complications but has comparable efficacy to the primary procedure.
INTERNATIONAL UROGYNECOLOGY JOURNAL
(2023)
Article
Biochemistry & Molecular Biology
Marie De Borre, Huiwen Che, Qian Yu, Lore Lannoo, Kobe De Ridder, Leen Vancoillie, Pauline Dreesen, Mika Van Den Ackerveken, Mio Aerden, Eva Galle, Jeroen Breckpot, Joachim Van Keirsbilck, Wilfried Gyselaers, Koen Devriendt, Joris Robert Vermeesch, Kristel Van Calsteren, Bernard Thienpont
Summary: By profiling the cell-free DNA methylation of plasma, it is possible to identify the risk of preeclampsia in early pregnancy, providing guidance for prevention and treatment.
Article
Genetics & Heredity
Veronika Beck, Guy Froyen, Sebastiaan Deckx, Inga Sandaite, Thomas Deprest, Koen Plevoets, Jan A. Deprest
Summary: The duration of tracheal occlusion in rats with congenital diaphragmatic hernia can predict lung growth and airway development, while the timepoint of occlusion does not have a significant impact. Prolonged occlusion results in enhanced lung growth, increased cell proliferation, and more refined airway architecture.
PRENATAL DIAGNOSIS
(2023)
Article
Genetics & Heredity
Simen Vergote, Francesca Maria Russo, David Basurto, Jan Deprest, Neeltje Crombag
Summary: The survey shows that most maternal-fetal medicine specialists consider the risk-benefit ratio of FETO for severe LCDH and RCDH clear and often offer this treatment option. However, they are uncertain about the risks and benefits of FETO for moderate LCDH and severe RCDH, and therefore do not frequently offer this option. However, not offering FETO to parents is considered a psychological burden.
PRENATAL DIAGNOSIS
(2023)
Article
Engineering, Biomedical
Viktor Voros, Jef De Smet, Mouloud Ourak, Vladimir Poliakov, Jan Deprest, Tom Kimpe, Emmanuel Vander Poorten
Summary: This study investigates the use and benefits of an autostereoscopic (3D) display in a simulated laparoscopic task, aiming to restore the sense of depth. Results show that 3D vision improves task completion time, total traveled distance, and error rate compared to 2D visualization.
INTERNATIONAL JOURNAL OF COMPUTER ASSISTED RADIOLOGY AND SURGERY
(2023)
Article
Obstetrics & Gynecology
Nada Mufti, Michael Aertsen, Dominic Thomson, Phillippe De Vloo, Philippe Demaerel, Jan Deprest, Andrew Melbourne, Anna L. David
Summary: This study investigated the use of fetal magnetic resonance imaging (MRI) for open spina bifida (OSB) patients eligible for fetal surgery. The results showed that there was timely access to supervised MRI, but the acquisition of important imaging parameters was not widespread. Specific guidance for fetal MRI for OSB is suggested.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2023)
Review
Genetics & Heredity
Yair J. Blumenfeld, Kunj R. Sheth, Eric Johnson, James K. Wall, Jan A. Deprest, Francesca M. Russo, Enrico Danzer
Summary: Fetal lower urinary tract obstruction (LUTO) is a severe malformation that can lead to high mortality and morbidity. Fetal vesico-amniotic shunts (VAS) have been used to bypass the obstruction, but currently available shunts have high dislodgement rates. We have developed a novel Vortex shunt that aims to improve deployment accuracy and reduce dislodgement risk.
PRENATAL DIAGNOSIS
(2023)
