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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Monitoring diaphragm electrical activity and the detection of congenital central hypoventilation syndrome in a newborn

Journal of Perinatology volume 33, pages 905–907 (2013)Cite this article

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Abstract

A full-term newborn infant is described with recurrent episodes of oxygen desaturation and apnea on the day of birth. The apnea did not improve with continuous positive airway pressure (CPAP) and intermittent nasal ventilation, therefore intubation and mechanical ventilation were required. A preliminary diagnosis of congenital central hypoventilation syndrome (CCHS) was made with the use of simultaneous measurements of end-tidal CO2 (EtCO2) and a diaphragm electrical activity waveform that was detected using microsensors placed on the infant’s feeding tube. It was observed that during deep sleep, the diaphragm electrical activity waveform was close to 0 μV (central apnea) and EtCO2 levels rose accordingly (central hypoventilation). Genetic testing subsequently revealed a Phox2b mutation, establishing the diagnosis of CCHS. Simultaneously measuring diaphragm electrical activity and EtCO2 is feasible and may be a valuable bedside diagnostic tool in cases of suspected CCHS before the diagnosis is confirmed with genetic testing.

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Authors and Affiliations

  1. Department of Neonatology, Poznan University of Medical Sciences, Poznan, Poland

    T Szczapa & J Gadzinowski

  2. Keenan Research Centre, Li Ka Shing Knowledge Institute, St Michael’s Hospital, Toronto, Ontario, Canada

    J Beck

  3. Pediatric Intensive Care Unit, Children's Memorial Health Institute, Warsaw, Poland

    M Migdal

Authors
  1. T Szczapa
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  2. J Beck
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  3. M Migdal
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  4. J Gadzinowski
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Corresponding author

Correspondence to T Szczapa.

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Competing interests

Dr Beck has made inventions related to neural control of mechanical ventilation that are patented. The license for these patents belongs to Maquet Critical Care. Future commercial uses of this technology may provide financial benefit to Dr Beck through royalties. Dr Beck owns 50% of Neurovent Research Inc (NVR). NVR is a research and development company that builds the equipment and catheters for research studies. NVR has a consulting agreement with Maquet Critical Care. The other authors declare no conflict of interest.

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Szczapa, T., Beck, J., Migdal, M. et al. Monitoring diaphragm electrical activity and the detection of congenital central hypoventilation syndrome in a newborn. J Perinatol 33, 905–907 (2013). https://doi.org/10.1038/jp.2013.89

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  • DOI: https://doi.org/10.1038/jp.2013.89

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