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5. The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities:A systematic review and meta-analysis

Author

Reilly, K., Sonner, S., McCay, N., Rolnik, D. L., Casey, F., Seale, A. N., Watson, C. J., Kan, A., Lai, T. H. T., Chung, B. H. Y., Diderich, K. E. M., Srebniak, M. I., Dempsey, E., Drury, S., Giordano, J., Wapner, R., Kilby, M. D., Chitty, L. S., Mone, F., Reilly, K., Sonner, S., McCay, N., Rolnik, D. L., Casey, F., Seale, A. N., Watson, C. J., Kan, A., Lai, T. H. T., Chung, B. H. Y., Diderich, K. E. M., Srebniak, M. I., Dempsey, E., Drury, S., Giordano, J., Wapner, R., Kilby, M. D., Chitty, L. S., and Mone, F.

Abstract

ObjectivesTo determine the incremental yield of prenatal exome sequencing (PES) over standard testing in fetuses with an isolated congenital heart abnormality (CHA), CHA associated with extra-cardiac malformations (ECMs) and CHA dependent upon anatomical subclassification.MethodsA systematic review of the literature was performed using MEDLINE, EMBASE, Web of Science and grey literature January 2010-February 2023. Studies were selected if they included greater than 20 cases of prenatally diagnosed CHA when standard testing (QF-PCR/chromosome microarray/karyotype) was negative. Pooled incremental yield was determined. PROSPERO CRD 42022364747.ResultsOverall, 21 studies, incorporating 1957 cases were included. The incremental yield of PES (causative pathogenic and likely pathogenic variants) over standard testing was 17.4% (95% CI, 13.5%-21.6%), 9.3% (95% CI, 6.6%-12.3%) and 35.9% (95% CI, 21.0%-52.3%) for all CHAs, isolated CHAs and CHAs associated with ECMs. The subgroup with the greatest yield was complex lesions/heterotaxy; 35.2% (95% CI 9.7%-65.3%). The most common syndrome was Kabuki syndrome (31/256, 12.1%) and most pathogenic variants occurred de novo and in autosomal dominant (monoallelic) disease causing genes (114/224, 50.9%).ConclusionThe likelihood of a monogenic aetiology in fetuses with multi-system CHAs is high. Clinicians must consider the clinical utility of offering PES in selected isolated cardiac lesions.What is already known?Congenital heart abnormalities are the most commonly occurring congenital anomalies and can be associated with chromosomal or monogenic conditions. With the increasing use of fetal sequencing, there is a need to define the association between monogenic conditions and specific cardiac abnormalities, particularly when isolated to facilitate triaging for prenatal sequencing.What does this study add?The incremental yield of prenatal exome sequencing over and above chromosome microarray for congenital heart abnormalities is 9.3% i

Published
2024

6. A recommendation for the use of electrical biosensing technology in neonatology.

Author

van Wyk, L, Austin, T, Barzilay, B, Bravo, MC, Breindahl, M, Czernik, C, Dempsey, E, de Boode, W-P, de Vries, W, Eriksen, BH, Fauchére, J-C, Kooi, EMW, Levy, PT, McNamara, PJ, Mitra, S, Nestaas, E, Rabe, H, Rabi, Y, Rogerson, SR, Savoia, M, Schena, F, Sehgal, A, Schwarz, CE, Thome, U, van Laere, D, Zaharie, GC, Gupta, S, ESPR Special Interest Group on Non-Invasive Cardiac Output Monitoring, van Wyk, L, Austin, T, Barzilay, B, Bravo, MC, Breindahl, M, Czernik, C, Dempsey, E, de Boode, W-P, de Vries, W, Eriksen, BH, Fauchére, J-C, Kooi, EMW, Levy, PT, McNamara, PJ, Mitra, S, Nestaas, E, Rabe, H, Rabi, Y, Rogerson, SR, Savoia, M, Schena, F, Sehgal, A, Schwarz, CE, Thome, U, van Laere, D, Zaharie, GC, Gupta, S, and ESPR Special Interest Group on Non-Invasive Cardiac Output Monitoring

Abstract

Non-invasive cardiac output monitoring, via electrical biosensing technology (EBT), provides continuous, multi-parameter hemodynamic variable monitoring which may allow for timely identification of hemodynamic instability in some neonates, providing an opportunity for early intervention that may improve neonatal outcomes. EBT encompasses thoracic (TEBT) and whole body (WBEBT) methods. Despite the lack of relative accuracy of these technologies, as compared to transthoracic echocardiography, the use of these technologies in neonatology, both in the research and clinical arena, have increased dramatically over the last 30 years. The European Society of Pediatric Research Special Interest Group in Non-Invasive Cardiac Output Monitoring, a group of experienced neonatologists in the field of EBT, deemed it appropriate to provide recommendations for the use of TEBT and WBEBT in the field of neonatology. Although TEBT is not an accurate determinant of cardiac output or stroke volume, it may be useful for monitoring longitudinal changes of hemodynamic parameters. Few recommendations can be made for the use of TEBT in common neonatal clinical conditions. It is recommended not to use WBEBT to monitor cardiac output. The differences in technologies, study methodologies and data reporting should be addressed in ongoing research prior to introducing EBT into routine practice. IMPACT STATEMENT: TEBT is not recommended as an accurate determinant of cardiac output (CO) (or stroke volume (SV)). TEBT may be useful for monitoring longitudinal changes from baseline of hemodynamic parameters on an individual patient basis. TEBT-derived thoracic fluid content (TFC) longitudinal changes from baseline may be useful in monitoring progress in respiratory disorders and circulatory conditions affecting intrathoracic fluid volume. Currently there is insufficient evidence to make any recommendations regarding the use of WBEBT for CO monitoring in neonates. Further research is required in all are

Published
2024

9. The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta‐analysis.

Author

Reilly, K., Sonner, S., McCay, N., Rolnik, D. L., Casey, F., Seale, A. N., Watson, C. J., Kan, A., Lai, T. H. T., Chung, B. H. Y., Diderich, K. E. M., Srebniak, M. I., Dempsey, E., Drury, S., Giordano, J., Wapner, R., Kilby, M. D., Chitty, L. S., and Mone, F.

Abstract

Objectives: To determine the incremental yield of prenatal exome sequencing (PES) over standard testing in fetuses with an isolated congenital heart abnormality (CHA), CHA associated with extra‐cardiac malformations (ECMs) and CHA dependent upon anatomical subclassification. Methods: A systematic review of the literature was performed using MEDLINE, EMBASE, Web of Science and grey literature January 2010‐February 2023. Studies were selected if they included greater than 20 cases of prenatally diagnosed CHA when standard testing (QF‐PCR/chromosome microarray/karyotype) was negative. Pooled incremental yield was determined. PROSPERO CRD 42022364747. Results: Overall, 21 studies, incorporating 1957 cases were included. The incremental yield of PES (causative pathogenic and likely pathogenic variants) over standard testing was 17.4% (95% CI, 13.5%–21.6%), 9.3% (95% CI, 6.6%–12.3%) and 35.9% (95% CI, 21.0%–52.3%) for all CHAs, isolated CHAs and CHAs associated with ECMs. The subgroup with the greatest yield was complex lesions/heterotaxy; 35.2% (95% CI 9.7%–65.3%). The most common syndrome was Kabuki syndrome (31/256, 12.1%) and most pathogenic variants occurred de novo and in autosomal dominant (monoallelic) disease causing genes (114/224, 50.9%). Conclusion: The likelihood of a monogenic aetiology in fetuses with multi‐system CHAs is high. Clinicians must consider the clinical utility of offering PES in selected isolated cardiac lesions. Key points: What is already known? Congenital heart abnormalities are the most commonly occurring congenital anomalies and can be associated with chromosomal or monogenic conditions.With the increasing use of fetal sequencing, there is a need to define the association between monogenic conditions and specific cardiac abnormalities, particularly when isolated to facilitate triaging for prenatal sequencing. What does this study add? The incremental yield of prenatal exome sequencing over and above chromosome microarray for congenital heart abnormalities is 9.3% in isolated lesions and 35.2% in the presence of complex lesions/heterotaxy.Clinicians should consider the clinical utility of offering prenatal exome sequencing in selected isolated cardiac lesions dependent on resources available. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Older than you think: using U–Pb calcite geochronology to better constrain basin-bounding fault reactivation, Inner Moray Firth Basin, western North Sea

Author

Tamas, A., primary, Holdsworth, R. E., additional, Tamas, D. M., additional, Dempsey, E. D., additional, Hardman, K., additional, Bird, A., additional, Roberts, N. M. W., additional, Lee, J., additional, Underhill, J. R., additional, McCarthy, D., additional, McCaffrey, K. J. W., additional, and Selby, D., additional

Published
2023
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12. Association of Umbilical Cord Milking Versus Delayed Umbilical Cord Clamping With Death or Severe Intraventricular Hemorrhage Among Preterm Infants

Author

Katheria, A., Reister, F., Essers, J., Mendler, M., Hummler, H., Subramaniam, A., Carlo, W., Tita, A., Truong, G., Davis-Nelson, S., Schmölzer, G., Chari, R., Kaempf, J., Tomlinson, M., Yanowitz, T., Beck, S., Simhan, H., Dempsey, E., OʼDonoghue, K., Bhat, S., Hoffman, M., Faksh, A., Arnell, K., Rich, W., Finer, N., Vaucher, Y., Khanna, P., Meyers, M., Varner, M., Allman, P., Szychowski, J., and Cutter, G.

Published
2020
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15. Strike-slip influenced stratigraphic and structural development of the Foula Sandstone Group, Shetland: implications for offshore Devonian basin development on the northern UK continental shelf

Author

Utley, T. A. G., primary, Holdsworth, R. E., additional, Blackbourn, G. A., additional, Dempsey, E., additional, Strachan, R. A., additional, McCaffrey, K. J. W., additional, Morton, A. C., additional, Bird, A. F., additional, Jones, R. R., additional, Saßnowski, A., additional, and Walker, R. J., additional

Published
2023
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17. The use of milrinone in neonates with persistent pulmonary hypertension of the newborn - a randomised controlled trial pilot study (MINT 1).

Author

El-Khuffash, A., McNamara, P.J., Breatnach, C., Bussmann, N., Smith, A, Feeney, O., Tully, E., Griffin, J., Boode, W.P. de, Cleary, B., Franklin, O., Dempsey, E., El-Khuffash, A., McNamara, P.J., Breatnach, C., Bussmann, N., Smith, A, Feeney, O., Tully, E., Griffin, J., Boode, W.P. de, Cleary, B., Franklin, O., and Dempsey, E.

Abstract

01 februari 2023, Item does not contain fulltext, OBJECTIVE: To assess the impact of milrinone administration on time spent on nitric oxide (iNO) in infants with acute pulmonary hypertension (aPH). We hypothesized that intravenous milrinone used in conjunction with iNO would reduce the time on iNO therapy and the time spent on invasive ventilation in infants ≥34 weeks gestation with a diagnosis of aPH. We aimed to assess the practicality of instituting the protocol and contributing to a sample size calculation for a definitive multicentre study. STUDY DESIGN: This was a multicentre, randomized, double-blind, two arm pilot study, with a balanced (1:1) allocation. Infants with a gestation ≥34 weeks and a birth weight ≥2000 grams aPH, an oxygenation index of ≥10, and commenced on iNO were eligible. Participants on iNO were assigned to either a milrinone infusion (intervention) or a normal saline infusion (placebo) for up to 35 h. The primary outcome was time on iNO and feasibility of conducting the protocol. RESULTS: The trial was terminated early after 4 years of enrollment due to poor recruitment. Four infants were allocated to the intervention arm and 5 to the placebo arm. The groups were well matched for baseline variables. No differences were seen in any of the primary or secondary outcomes. CONCLUSION: Conducting an interventional trial in the setting of acute pulmonary hypertension in infants is not feasible using our current approach. Future studies in this area require alternative trial design to improve recruitment as this topic remains understudied in the neonatal field. TRIAL REGISTRATION: www.isrctn.com ; ISRCTN:12949496; EudraCT Number:2014-002988-16.

Published
2023

19. A consensus protocol for functional connectivity analysis in the rat brain

Author

Grandjean, J., Desrosiers-Gregoire, G., Anckaerts, C., Angeles-Valdez, D., Ayad, F., Barrière, D., Blockx, I., Bortel, A., Broadwater, M., Cardoso, B., Célestine, M., Chavez-Negrete, J., Choi, S., Christiaen, E., Clavijo, P., Colon-Perez, L., Cramer, S., Daniele, T., Dempsey, E., Diao, Y., Doelemeyer, A., Dopfel, D., Dvořáková, L., Falfán-Melgoza, C., Fernandes, F., Fowler, C., Fuentes-Ibañez, A., Garin, C., Gelderman, E., Golden, C., Guo, C., Henckens, M., Hennessy, L., Herman , P., Hofwijks, N., Horien, C., Ionescu, T., Jones, J., Kaesser, J., Kim, E., Lambers, H., Lazari, A., Lee, S., Lillywhite, A., Liu, Y., López-Castro, A., López-Gil , X., Ma, Z., MacNicol, E., Madularu, D., Mandino, F., Marciano, S., McAuslan, M., McCunn, P., McIntosh, A., Meng, X., Meyer-Baese, L., Missault, S., Moro, F., Naessens, D., Nava-Gomez, L., Nonaka, H., Ortiz, J., Paasonen, J., Pais-Roldán, P., Peeters, L., Pereira, M., Perez, P., Pompilus, M., Prior, M., Rakhmatullin, R., Reimann, H., Reinwald, J., Triana Del Rio, R., Rivera-Olvera, A., Ruiz-Pérez, D., Russo, G., Rutten, T., Ryoke, R., Sack, M., Salvan, P., Sanganahalli, B., Schroeter, A., Seewoo , B., Selingue, E., Seuwen, A., Shi, B., Sirmpilatze, N., Smith, J., Smith, C., Sobczak, F., Stenroos, P., Straathof, M., Strobelt, S., Sumiyoshi, A., Takahashi, K., Torres-García, M., Tudela, R., van den Berg, M., van der Marel, K., van Hout, A., Vertullo, R., Vidal, B., Vrooman, R., Wang, X., Wank, I., Watson, D., Yin, T., Zhang, Y., Zurbruegg, S., Achard, S., Alcauter, S., Auer, D., Barbier, E., Baudewig, J., Beckmann, C., Beckmann, N., Becq, G., Blezer, E., Bolbos, R., Boretius, S., Bouvard, S., Budinger, E., Buxbaum, J., Cash, D., Chapman, V., Chuang, K., Ciobanu, L., Coolen, B., Dalley, J., Dhenain, M., Dijkhuizen, R., Esteban, O., Faber, C., Febo, M., Feindel, K., Forloni, G., Fouquet, J., Garza-Villarreal, E., Gass, N., Glennon, J., Gozzi, A., Gröhn, O., Harkin, A., Heerschap, A., Helluy, X., Herfert , K., Heuser, A., Homberg, J., Houwing, D., Hyder, F., Ielacqua, G., Jelescu, I., Johansen-Berg, H., Kaneko, G., Kawashima, R., Keilholz, S., Keliris, G., Kelly, C., Kerskens, C., Khokhar, J., Kind, P., Langlois, J., Lerch, J., López-Hidalgo, M., Manahan-Vaughan, D., Marchand, F., Mars, R., Marsella, G., Micotti , E., Muñoz-Moreno , E., Near, J., Niendorf, T., Otte, W., Pan , W., Prado-Alcalá, R., Quirarte, G., Rodger , J., Rosenow, T., Sampaio-Baptista, C., Sartorius, A., Sawiak, S., Scheenen, T., Shemesh, Shih, Y., Shmuel, A., Soria, G., Stoop, R., Thompson, G., Till, S., Todd, N., Van Der Linden, A., van der Toorn, A., van Tilborg, G., Vanhove, C., Veltien, A., Verhoye, M., Wachsmuth, L., Weber-Fahr, W., Wenk , P., Yu, X., Zerbi , V., Zhang , N., Zhang, B., Zimmer, L., Devenyi, G., Chakravarty, M., and Hess, A.

Subjects
Action, intention, and motor control, General Neuroscience, fmri, Medizin, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], Human medicine
Abstract

Task-free functional connectivity in animal models provides an experimental framework to examine connectivity phenomena under controlled conditions and allows for comparisons with data modalities collected under invasive or terminal procedures. Currently, animal acquisitions are performed with varying protocols and analyses that hamper result comparison and integration. Here we introduce StandardRat, a consensus rat functional magnetic resonance imaging acquisition protocol tested across 20 centers. To develop this protocol with optimized acquisition and processing parameters, we initially aggregated 65 functional imaging datasets acquired from rats across 46 centers. We developed a reproducible pipeline for analyzing rat data acquired with diverse protocols and determined experimental and processing parameters associated with the robust detection of functional connectivity across centers. We show that the standardized protocol enhances biologically plausible functional connectivity patterns relative to previous acquisitions. The protocol and processing pipeline described here is openly shared with the neuroimaging community to promote interoperability and cooperation toward tackling the most important challenges in neuroscience. The authors pooled resources to identify best practices and develop a new standardized protocol for estimating functional connectivity in rats with magnetic resonance imaging.

Published
2023
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21. Author Correction: A consensus protocol for functional connectivity analysis in the rat brain

Author

Grandjean, J., Desrosiers-Gregoire, G., Anckaerts, C., Angeles-Valdez, D., Ayad, F., Barrière, D., Blockx, I., Bortel, A., Broadwater, M., Cardoso, B., Célestine, M., Chavez-Negrete, J., Choi, S., https://orcid.org/0000-0001-7327-1344, Christiaen, E., Clavijo, P., Colon-Perez, L., Cramer, S., Daniele, T., Dempsey, E., Diao, Y., Doelemeyer, A., Dopfel, D., Dvořáková, L., Falfán-Melgoza, C., Fernandes, F., Fowler, C., Fuentes-Ibañez, A., Garin, C., Gelderman, E., Golden, C., Guo, C., Henckens, M., Hennessy, L., Herman , P., Hofwijks, N., Horien, C., Ionescu, T., Jones, J., Kaesser, J., Kim, E., Lambers, H., Lazari, A., Lee, S., Lillywhite, A., Liu, Y., López-Castro, A., López-Gil , X., Ma, Z., MacNicol, E., Madularu, D., Mandino, F., Marciano, S., McAuslan, M., McCunn, P., McIntosh, A., Meng, X., Meyer-Baese, L., Missault, S., Moro, F., Naessens, D., Nava-Gomez, L., Nonaka, H., Ortiz, J., Paasonen, J., Pais-Roldán, P., https://orcid.org/0000-0002-9381-3048, Peeters, L., Pereira, M., Perez, P., Pompilus, M., Prior, M., Rakhmatullin, R., Reimann, H., Reinwald, J., Triana Del Rio, R., Rivera-Olvera, A., Ruiz-Pérez, D., Russo, G., Rutten, T., Ryoke, R., Sack, M., Salvan, P., Sanganahalli, B., Schroeter, A., Seewoo , B., Selingue, E., Seuwen, A., Shi, B., Sirmpilatze, N., Smith, J., Smith, C., Sobczak, F., Stenroos, P., Straathof, M., Strobelt, S., Sumiyoshi, A., Takahashi, K., Torres-García, M., Tudela, R., van den Berg, M., van der Marel, K., van Hout, A., Vertullo, R., Vidal, B., Vrooman, R., Wang, X., Wank, I., Watson, D., Yin, T., Zhang, Y., Zurbruegg, S., Achard, S., Alcauter, S., Auer, D., Barbier, E., Baudewig, J., Beckmann, C., Beckmann, N., Becq, G., Blezer, E., Bolbos, R., Boretius, S., Bouvard, S., Budinger, E., Buxbaum, J., Cash, D., Chapman, V., Chuang, K., Ciobanu, L., Coolen, B., Dalley, J., Dhenain, M., Dijkhuizen, R., Esteban, O., Faber, C., Febo, M., Feindel, K., Forloni, G., Fouquet, J., Garza-Villarreal, E., Gass, N., Glennon, J., Gozzi, A., Gröhn, O., Harkin, A., Heerschap, A., Helluy, X., Herfert , K., Heuser, A., Homberg, J., Houwing, D., Hyder, F., Ielacqua, G., Jelescu, I., Johansen-Berg, H., Kaneko, G., Kawashima, R., Keilholz, S., Keliris, G., Kelly, C., Kerskens, C., Khokhar, J., Kind, P., Langlois, J., Lerch, J., López-Hidalgo, M., Manahan-Vaughan, D., Marchand, F., Mars, R., Marsella, G., Micotti , E., Muñoz-Moreno , E., Near, J., Niendorf, T., Otte, W., Pan , W., Prado-Alcalá, R., Quirarte, G., Rodger , J., Rosenow, T., Sampaio-Baptista, C., Sartorius, A., Sawiak, S., Scheenen, T., Shemesh, Shih, Y., Shmuel, A., https://orcid.org/0000-0003-3028-6639, Soria, G., Stoop, R., https://orcid.org/0000-0002-3532-1512, Thompson, G., Till, S., Todd, N., Van Der Linden, A., van der Toorn, A., van Tilborg, G., Vanhove, C., Veltien, A., Verhoye, M., Wachsmuth, L., Weber-Fahr, W., Wenk , P., Yu, X., Zerbi , V., Zhang , N., Zhang, B., Zimmer, L., Devenyi, G., Chakravarty, M., and Hess, A.

Subjects
General Neuroscience, Medizin
Abstract

Weitere Nicht-UDE Autoren sind nicht mit aufgeführt. in press

Published
2023
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24. Older than you think: Using U-Pb calcite geochronology to better constrain basin-bounding fault reactivation, Inner Moray Firth Basin, W North Sea

Author

Tamas, A., Holdsworth, R. E., Tamas, D. M., Dempsey, E. D., Hardman, K., Bird, A., Roberts, N. M. V., Lee, J., Underhill, J. R., McCarthy, D., McCaffrey, K. J. W., and Selby, D.

Abstract

Appendix D. Additional thin section microphotographs of HD1 sample showing repeated cycles of syntaxial grain growth.

Published
2023
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25. The strike-slip influenced stratigraphic and structural development of the Foula Sandstone Group, Shetland: implications for offshore Devonian basin development in the northern UKCS

Author

Utley, T. A. G., Holdsworth, R. E., Blackbourn, G. A., Dempsey, E., Strachan, R. A., McCaffrey, K. J. W., Morton, A. C., Bird, A. F., Jones, R. R., Saßnowski, A., and Walker, R. J.

Abstract

Appendix A: 3D Virtual Outcrop Models and analytical methodologies; Appendix B: Regional stratigraphy; Appendix C: Detrital heavy mineral data.

Published
2023
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30. Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis

Author

Mone, F, Eberhardt, RY, Hurles, ME, Mcmullan, DJ, Maher, ER, Lord, J, Chitty, LS, Dempsey, E, Homfray, T, Giordano, JL, Wapner, RJ, Sun, L, Sparks, TN, Norton, ME, Kilby, MD, Mone, F [0000-0002-0718-7547], Dempsey, E [0000-0002-7653-4653], Sun, L [0000-0001-8467-0383], Sparks, TN [0000-0002-8593-2186], Kilby, MD [0000-0001-9987-4223], and Apollo - University of Cambridge Repository

Subjects
hydrops, prenatal diagnosis, Hydrops Fetalis, High-Throughput Nucleotide Sequencing, Microarray Analysis, fetus, Predictive Value of Tests, Pregnancy, Karyotyping, non-immune hydrops fetalis, Exome Sequencing, Humans, next-generation sequencing, Female, Prospective Studies
Abstract

OBJECTIVE: To determine the incremental yield of exome sequencing (ES) over chromosomal microarray analysis (CMA) or karyotyping in prenatally diagnosed non-immune hydrops fetalis (NIHF). METHODS: A prospective cohort study (comprising an extended group of the Prenatal Assessment of Genomes and Exomes (PAGE) study) was performed which included 28 cases of prenatally diagnosed NIHF undergoing trio ES following negative CMA or karyotyping. These cases were combined with data from a systematic review of the literature. MEDLINE, EMBASE, CINAHL and ClinicalTrials.gov databases were searched electronically (January 2000 to October 2020) for studies reporting on the incremental yield of ES over CMA or karyotyping in fetuses with prenatally detected NIHF. Inclusion criteria for the systematic review were: (i) at least two cases of NIHF undergoing sequencing; (ii) testing initiated based on prenatal ultrasound-based phenotype; and (iii) negative CMA or karyotyping result. The incremental diagnostic yield of ES was assessed in: (i) all cases of NIHF; (ii) isolated NIHF; (iii) NIHF associated with an additional fetal structural anomaly; and (iv) NIHF according to severity (i.e. two vs three or more cavities affected). RESULTS: In the extended PAGE study cohort, the additional diagnostic yield of ES over CMA or karyotyping was 25.0% (7/28) in all NIHF cases, 21.4% (3/14) in those with isolated NIHF and 28.6% (4/14) in those with non-isolated NIHF. In the meta-analysis, the pooled incremental yield based on 21 studies (306 cases) was 29% (95% CI, 24-34%; P < 0.00001; I2 = 0%) in all NIHF, 21% (95% CI, 13-30%; P < 0.00001; I2 = 0%) in isolated NIHF and 39% (95% CI, 30-49%; P < 0.00001; I2 = 1%) in NIHF associated with an additional fetal structural anomaly. In the latter group, congenital limb contractures were the most prevalent additional structural anomaly associated with a causative pathogenic variant, occurring in 17.3% (19/110) of cases. The incremental yield did not differ significantly according to hydrops severity. The most common genetic disorders identified were RASopathies, occurring in 30.3% (27/89) of cases with a causative pathogenic variant, most frequently due to a PTPN11 variant (44.4%; 12/27). The predominant inheritance pattern in causative pathogenic variants was autosomal dominant in monoallelic disease genes (57.3%; 51/89), with most being de novo (86.3%; 44/51). CONCLUSIONS: Use of prenatal next-generation sequencing in both isolated and non-isolated NIHF should be considered in the development of clinical pathways. Given the wide range of potential syndromic diagnoses and heterogeneity in the prenatal phenotype of NIHF, exome or whole-genome sequencing may prove to be a more appropriate testing approach than a targeted gene panel testing strategy. © 2021 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Published
2021
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32. Investigation of lung volume measurements in neonates using gas in scattering media absorption spectroscopy

Author

Pacheco, A., Jayet, B., Grygoryev, K., Messina, W., Dehghani, H., Svanberg, E. K., Dempsey, E., and Stefan Andersson-Engels

Subjects
Scattering media, Absorption spectroscopy, GASMAS technique, Neonates, Tunable diode lasers, Gas in scattering media absorption spectroscopy (GASMAS), Light propagation, Computed tomography, Phantom studies
Abstract

We perform phantom and numerical studies of the changes in molecular oxygen and water vapor spectroscopic signals, showing the potential of measuring pulmonary volume changes with GASMAS technique in neonates.

Published
2022

39. Central data monitoring in the multicentre randomised SafeBoosC-III trial:a pragmatic approach

Author

Olsen, M. H., Hansen, M. L., Safi, S., Jakobsen, J. C., Greisen, G., Gluud, C., Pellicer, A., Bargiel, A., Hopper, A., Truttmann, A., Klamer, A., Heuchan, A. M., Memisoglu, A., Krolak-Olejnik, B., Rzepecka, B., Loureiro, B., Lecart, C., Hagmann, C., Ergenekon, E., Hatzidaki, E., Mastretta, E., Dempsey, E., Papathoma, E., Lou, F., Dimitriou, G., Pichler, G., Vento, G., Hahn, G. H., Naulaers, G., Cheng, G., Fuchs, H., Ozkan, H., De Las Cuevas, I., Sadowska-Krawczenko, I., Tkaczyk, J., Sirc, J., Zhang, J., Mintzer, J., De Buyst, J., Mccall, K., Bober, K., Sarafidis, K., Bender, L., Lopez, L. S., Chalak, L., Yang, L., Cornette, L., Arruza, L., Baserga, M., Stocker, M., Agosti, M., Cetinkaya, M., Alsina, M., Fumagalli, M., Suarez, O. L., Otero, O., Baud, O., Zafra, P., Agergaard, P., Maton, P., Viellevoye, R., del Rio Florentino, R., Lauterbach, R., Borregas, S. P., Nesargi, S., Rite, S., Rao, S., Zeng, S., Pisoni, S., Hyttel-Sorensen, S., Fredly, S., Oguz, S., Karen, T., Szczapa, T., Gao, X., Xu, X., Yin, Z., University of Zurich, and Olsen, Markus Harboe

Subjects
Medicine (General), medicine.medical_specialty, Monitoring, Computer science, Epidemiology, Missing data, 610 Medicine & health, Health Informatics, Health informatics, 03 medical and health sciences, R5-920, 0302 clinical medicine, Documentation, Clinical trials, medicine, Humans, Medical physics, 030212 general & internal medicine, Physiologic, Premature, 2718 Health Informatics, Monitoring, Physiologic, Protocol (science), Central monitoring, business.industry, Research, Data quality, Infant, Newborn, Infant, Newborn, 10027 Clinic for Neonatology, Clinical trial, Data deviations, Mahalanobis distance, Infant, Premature, Identification (information), 10036 Medical Clinic, 030220 oncology & carcinogenesis, Good clinical practice, business, 2713 Epidemiology
Abstract

Background Data monitoring of clinical trials is a tool aimed at reducing the risks of random errors (e.g. clerical errors) and systematic errors, which include misinterpretation, misunderstandings, and fabrication. Traditional ‘good clinical practice data monitoring’ with on-site monitors increases trial costs and is time consuming for the local investigators. This paper aims to outline our approach of time-effective central data monitoring for the SafeBoosC-III multicentre randomised clinical trial and present the results from the first three central data monitoring meetings. Methods The present approach to central data monitoring was implemented for the SafeBoosC-III trial, a large, pragmatic, multicentre, randomised clinical trial evaluating the benefits and harms of treatment based on cerebral oxygenation monitoring in preterm infants during the first days of life versus monitoring and treatment as usual. We aimed to optimise completeness and quality and to minimise deviations, thereby limiting random and systematic errors. We designed an automated report which was blinded to group allocation, to ease the work of data monitoring. The central data monitoring group first reviewed the data using summary plots only, and thereafter included the results of the multivariate Mahalanobis distance of each centre from the common mean. The decisions of the group were manually added to the reports for dissemination, information, correcting errors, preventing furture errors and documentation. Results The first three central monitoring meetings identified 156 entries of interest, decided upon contacting the local investigators for 146 of these, which resulted in correction of 53 entries. Multiple systematic errors and protocol violations were identified, one of these included 103/818 randomised participants. Accordingly, the electronic participant record form (ePRF) was improved to reduce ambiguity. Discussion We present a methodology for central data monitoring to optimise quality control and quality development. The initial results included identification of random errors in data entries leading to correction of the ePRF, systematic protocol violations, and potential protocol adherence issues. Central data monitoring may optimise concurrent data completeness and may help timely detection of data deviations due to misunderstandings or fabricated data.

Published
2021
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40. Fetal hydrops and the Incremental yield of Next‐generation sequencing over standard prenatal Diagnostic testing ( FIND ) study: prospective cohort study and meta‐analysis

Author

Mone, F., primary, Eberhardt, R. Y., additional, Hurles, M. E., additional, Mcmullan, D. J., additional, Maher, E. R., additional, Lord, J., additional, Chitty, L. S., additional, Dempsey, E., additional, Homfray, T., additional, Giordano, J. L., additional, Wapner, R. J., additional, Sun, L., additional, Sparks, T. N., additional, Norton, M. E., additional, and Kilby, M. D., additional

Published
2021
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41. Efficacy of a Medical Directive to Reduce Inappropriate Indwelling Urinary Catheter Use on Orthopedic Wards

Author

Jina, R., Foley, L., Chan, S., Wong, E., Ward, S., Kuan, D., Wong, C., Wang, S-J., Lee, L., Hammond, M., Leu, R., Cuperfain, A., Perrella, A., Canfield, A., Woo, T., McCollum, A., Landry, V., Yetman, L., Theou, O., Andrew, M., Jarrett, P., Arya, R., Cristancho, S., Thain, J., Diachun, L., Tsui, C., Kim, K., Spencer, M., Reich, K., Moledina, A., Kwan, E., Keir, M., Fan, B.J.Y., Wong, R.Y.M., Reppas-Rindlisbacher, C., Lee, J., Siddhpuria, S., Gabor, C., De Freitas, S., Khalili, Y., Curkovic, A., Patterson, C., Naqvi, R., Wong, C.L., Koo, K., To, E., Stoian, M., Tung, J., Benjamin, S., Ho, J., Burrell, A., Chahine, S., Casey, G., Kekewich, M., Swain, K., Pridham, A., Morgan, A., Wilding, L., Moors, J., Khoury, L., Jabbar, A., Costa, A., Jafri, A., Osborne, A., Cowan, D., Onge, J. St., Pieruccini-Faria, F., Bray, N., Montero-Odasso, M., Abou-Sharkh, A., Mayo, N., Wall, M., Harvey, E., St-Jean, S., Albers, A., Bergeron, S., Bérubé, P., Morin, S., Turner, J., Martin, P., Zhang, Y.Z., Tannenbaum, C., Pulok, M., van der Valk, A., Rockwood, K., Dearing, M., Bowles, S., Isenor, J., Reeve, E., Piankova, P., Eintracht, S., Hoffer, L.J., Afilalo, J., Mate, K., Morais, J., Ahmed, U., Akter, R., Maksymowych, W., Martin, L., Hogan, D., Alston, J., Gandell, D., Cheung, E., Arora, R., Kundid, E., Ali, A., Martin, G., Versloot, J., Bartholomew, S., Robitaille, C., Plebon-Huff, S., Beauchet, O., Fung, S., Launay, C., Chabot, J., Galery, K., Dejager, S., Bineau, S., Berrut, G., Bobrowski, C., Brown, D., Contreras, J., Norris, M., Jaunkalns, R., Liu, B., Chertkow, H., Borrie, M., Feldman, H., Whitehead, V., Rylett, J., McGilton, K., Black, S., Masellis, M., Chuen, V., Chan, A., Alibhai, S., Chau, V., Church, S., Rogers, E., Squires, E., Colborne, A., Fenwick, P., Cahill, L., Collier-Jarvis, Krista, Mah, Jasmine, Cullen, S., Carroll, S., Cuthbertson, L.R., Stajduhar, K., Cloutier, D., Day, A., Ng, K., Dubé, J., Truemner, J., Best, S., Sargeant, P., Faisal, S., Ivo, J., McDougall, A., Bauer, J., Pritchard, S., Chang, F., Patel, T., Faulkner, C., Bronskill, S., Rosella, L., Stall, N., Savage, R., Zhu, L., Manuel, D., Rochon, P., Godin, J., Black, K., McNeil, S.A., Andrew, M.K., Gong, Z., Song, H., Thrall, S., Wang, X.M., Allaby, C., Papaioannou, A., Gorman, M., MacGrath, M., Haddad, S.M. Hassan, Scott, C.J.M., Arnott, S.R., Ozzoude, M., Swartz, R.H., Mandzia, J., Kwan, D., Beaton, D., Bartha, R., Harasym, P., Brisbin, S., Quail, P.B., Venturato, L., Sinnarajah, A., Virk, N., Kaasalainen, S., Sussman, T., Hanson, H., Sharon, S., Holroyd-Leduc, J., Haslam, L., DePaul, V., Woo, K., Donnelly, C., Auais, M., Haviva, C., Zimmer, Z., Jacob, K., Sonjak, V., Hajj, G., Chevalier, S., Lamarche, M., Janower, A., John, P. St., Jayanama, K., Jeffrey, E., Ji, A. (Tianshu), McGregor, M., Kow, J., Kehler, S., Giacomantonio, N., Firth, W., Blanchard, C., Kelly, S., Lorbergs, A., Crilly, R., Knoefel, F., Sabra, I., Wallace, B., Breau, M., Sweet, L., Goubran, R., Frank, A., Kokorelias, K., Cronin, S., Eftekhar, P., Munce, S., Jagal, S., Vellani, S., Wang, C., Salbach, N., Colella, T., Kontos, P., Grigorovich, A., Chau, B., Cameron, J., Krause, K., Lam, K., Arnold, C., Wu, W., Piggott, K., Parikh, R., Hillier, L.M., Lu, S.K., Gevaert, V., Walker, S., Lu, S., Wong, W., Gregg, S., Bedirian, W., Skimson, K., Milligan, J., Lovett, M., Negm, A., Ioannidis, G., Petruccelli, D., Winemaker, M., Luthra, A.S., de Jesus, I.T. Machado, Gratão, A.C. Martins, Nascimento, C.M. Crispim, de Souza Orlandi, F., de Oliveira Gomes, G.A., Say, K. Gramani, dos Santos, A. Angelini, Cominetti, M.R., Pavarini, S.C. Iost, Zazzetta, M.S., Madden, Ken, Feldman, Boris, Meneilly, Graydon, Makhani, A., Qureshi, S., Hunter, K.F., Wagg, A., Gibson, W., Marion, M., Monor, A., Malik, S., O’Donoghue, C., Marr, S., Wilson, J. McKinnon, Doleweerd, J., Berezny, T., Mayo, A., Senechal, M., Boudreau, J., Belanger, M., Bouchard, D., McGarrigle, L., Wallace, L., Howlett, S.E., Mehta, N., Ghuman, I., Mehta, M., Brode, S., Mehrabi, M., Marras, T., Mele, B., Merrikh, D., Ismail, Z., Goodarzi, Z., Mercer, S., Babb, K., Nauth, S., Tait, G., Liberman, D., Devine, L., Nepal, R.M., Vojicic, J., Dion, S., Major, M., Isturiz, R.E., Nguyen, Q. Dinh, Nicholson, K., Fortin, M., Griffith, L., Terry, A., Williamson, T., Mangin, D., Stranges, S., Pageau, F., van der Horst, M-L., McArthur, C., Jain, R., Jaglal, S., Adachi, J.D., Giangregorio, L., Parmar, J., Brémault-Phillips, S., Duggleby, W., Charles, L., Tian, P.G. Jaminal, Bedaba, R., Rolfson, D., Torti, J., Dobbs, B., Khera, S., Abbasi, M., Chan, K., Carr, F., Triscott, J., Huang, J., Moores, D., Cerna, J., Jamieson, J., Jensen, L., Johnson, C., Chow, J., Guzak, J., Mathura, P., Sun, X., Pearce, P., Dempsey, E., Mahon, A., Pérez-Zepeda, U., Borda, M-G., Almeda-Valdés, P., Cesari, M., Peters, M-L., Davidson, S., Reece, K., Spira, N., Uranis, C., Whelan, L., Ryan, D.P., Brown, D.M., Saha, A., Thiyagalingam, S., Wachtel, J., Ramasamy, D., Schmidt, K., Nobleza, S., Gordon, C., Hung, M., Thangaraja, M., Searle, S.D., Ellis, H. Logan, Ramlakhan, D., Davis, D., Sekhon, H., Sepehri, K., Song, X., Chinda, B., Braley, M., Zou, M., Tang, B., Garm, A., Park, G., Sirisegaram, L., Sarquis-Adamson, Y., Smallbone, J., Posner, A., Yogaparan, T., Kelly, R., Singh, S., Keetch, K., Heiazi, S., Sandercock, J., Shyr, C., D’Arcy, R., McDermid, R., Clarke, B., Hanson, C., Tate, R., Shah, N., Resnick, J., Amin, S., Manzoor, S., Mistry, N., Fless, K., Rezai, F., Ovnanian, V., Yodice, P., Torbiak, L., Schmaltz, H., Trenaman, S., Kirkland, S., Bodkin, R. J., Wang, K., Ganesh, V., Neat, C., Raber, C., An, H., Beyzaei, N., Lau, C., Lee, F., Cox, L., McElhaney, J., McNeil, S., Wong, T., McKellar, L., Dasgupta, M., Vasudev, A., Burhan, A., O’Regan, N., Yeung, C., Srinathan, S., and Dhaliwal, R.

Subjects
Abstracts, Geriatrics and Gerontology, Gerontology
Published
2019

42. A determination of atmospheric helium, neon, argon, krypton, and xenon solubility concentrations in water and seawater

Author

K.L. Cahill, William J. Jenkins, and Dempsey E. Lott

Subjects
0106 biological sciences, Argon, 010504 meteorology & atmospheric sciences, 010604 marine biology & hydrobiology, Krypton, Analytical chemistry, Temperature salinity diagrams, Noble gas, chemistry.chemical_element, General Chemistry, Oceanography, 01 natural sciences, Freezing point, Neon, Xenon, chemistry, Environmental Chemistry, Environmental science, Seawater, Physics::Atmospheric and Oceanic Physics, 0105 earth and related environmental sciences, Water Science and Technology
Abstract

We have determined the concentrations of atmospheric helium, neon, argon, krypton , and xenon in distilled water and seawater equilibrated with moist marine air at one atmosphere over a temperature range from near freezing point to approximately 35 °C and a salinity range of zero to roughly 39.5 PSS78. In all, we made 74 sets of noble gas measurements at 34 distinct temperature and salinity combinations. The experiments included 35 replicate pairs of samples drawn from 35 separate equilibrations, which in turn had three pairs of repeat equilibrations run at close to identical temperatures. We fit the results to an eight-parameter function similar to one commonly used to compute solubility equilibrium concentrations of these gases for environmental waters. Based on an estimate of analytical accuracy, reproducibility of the comparison with secondary atmospheric standards, replicate sample reproducibility, and reproducibility of the repeat equilibrations, we estimate this function to predict equilibrium concentrations at a particular temperature and salinity within this range to overall precisions 0.10% or better. This includes the regression statistics associated with interpolation and analytical errors for fitting the 8-parameter smoothing function. There is an overall systematic uncertainty of 0.15% for all gases, based on our confidence in and experience with the integrity and cross-calibration of our air standards over recent years. Because our methods are calibrated using assumed and explicit atmospheric abundances of these noble gases, any subsequent uncertainties in atmospheric abundances cancel out in the determination, particularly when the oceanographic measurements utilize marine air as a primary standard. Furthermore, measurement at ambient atmospheric abundances avoids any potential co-solvency induced biases introduced by using ~1 atm pure noble gases, as has been done in most previous studies. We compare these determinations to those made by others in the past and find modest but significant systematic differences with those results.

Published
2019
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