Experiences of attending prenatal ultrasounds during the COVID-19 pandemic in Australia: A cross-sectional survey.

BACKGROUND: Prenatal ultrasounds form an important part of routine maternity care in Australia and indeed internationally. The COVID-19 pandemic necessitated rapid changes in society and healthcare to curb transmission, with evidence demonstrating detrimental impacts on childbearing women associated with these restrictions. However, experiences with pandemic restrictions for prenatal ultrasounds in relation to distress, patient expectations, and satisfaction are largely unknown. This study aimed to explore the experiences of pregnant women attending prenatal ultrasound during the pandemic in Australia. METHODS: A cross-sectional online survey of people in Australia who had undergone at least one prenatal ultrasound during the period of maternity care restrictions was performed. The survey included validated tools for assessing post-traumatic stress, satisfaction, and expectations with maternity care. RESULTS: A total of 1280 responses were obtained. Almost 37% of respondents returned a PCL-C score consistent with probable post-traumatic stress disorder. Unexpected ultrasound findings or a high PCL-C score were more likely to have higher expectations and lower levels of satisfaction with their maternity care experience. Having an ultrasound for pregnancy loss, fetal abnormality, and/or a prior post-traumatic stress disorder diagnosis were the strongest factors correlating with a high PCL-C score. DISCUSSION: The prevalence of post-traumatic stress symptoms in the study population is concerning and elucidates the distress experienced in association with prenatal ultrasounds during pandemic restrictions in Australia. Maternity services should acknowledge the high levels of service consumers with post-trauma symptoms and consider trauma-responsive maternity care adaptations in response to adverse perinatal outcomes for those afflicted with post-trauma and distress-related symptoms.

Respiratory chain deficiency in nonmitochondrial disease.

OBJECTIVE: In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochondrial disease. METHODS: The reported patients were identified from a cohort of 60 patients in whom RC enzyme deficiency suggested mitochondrial disease and underwent whole-exome sequencing. RESULTS: Five patients had disease-causing variants in nonmitochondrial disease genes ORAI1, CAPN3, COLQ, EXOSC8, and ANO10, which would have been missed on targeted next-generation panels or on MitoExome analysis. CONCLUSIONS: Our data demonstrate that RC abnormalities may be secondary to various cellular processes, including calcium metabolism, neuromuscular transmission, and abnormal messenger RNA degradation.