Prenatal diagnosis of Berry syndrome by fetal echocardiography: A report of four cases

Zhang, Xin; Liu, Xiaowei; Gu, Xiaoyan; Han, Jiancheng; Hao, Xiaoyan; Fu, Yuwei; He, Yihua

doi:10.1111/echo.13832

Cited by 11 publications

(14 citation statements)

References 7 publications

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“…Berry syndrome is an extremely rare disease, accounting for only 0.046% of all reported cases of congenital heart anomalies [52]. It is more common in males (67.1%).…”

Section: Discussionmentioning

confidence: 99%

Berry syndrome: a case report and literature review

Liu

et al. 2021

BMC Cardiovasc Disord

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Background Berry syndrome, a rare combination of cardiac anomalies, consists of aortopulmonary window (APW); aortic origin of the right pulmonary artery; interrupted aortic arch (IAA) or hypoplastic aortic arch or coarctation of the aorta; and an intact ventricular septum. There is lack of review articles that elucidate the clinical features, diagnosis, treatment, and outcomes of Berry syndrome. This publication systematically reviews the 89 cases published since 1982 on Berry syndrome. Case presentation A 38-year-old woman presented with a loud murmur and cyanosis. Transthoracic echocardiography demonstrated a severely dilated aorta and main pulmonary artery with a large intervening defect. Distal to the APW, the ascending aorta gave rise to the right pulmonary artery. Additionally, a type A IAA, an intact ventricular septum, and a large patent ductus arteriosus were revealed. Computed tomography angiography with 3-dimensional reconstruction confirmed above findings. This is the first report of a patient of this age with Berry syndrome who did not undergo surgery. Conclusions Berry syndrome is a rare but well-identified and surgically correctable anomaly. Patients with Berry syndrome should be followed up for longer periods to better characterize long-term outcomes.

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“…Berry syndrome is an extremely rare disease, accounting for only 0.046% of all reported cases of congenital heart anomalies [52]. It is more common in males (67.1%).…”

Section: Discussionmentioning

confidence: 99%

Berry syndrome: a case report and literature review

Liu

et al. 2021

BMC Cardiovasc Disord

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“…However this only amounted to 54 studies in total as some artices described different tests from the same study. Of the 134 indirect evidence papers or abstracts, 133 were synthesised41–174 as well as a single trial record 175. None of the seven included trials identified from trial registries reported interim or final results and only four remain active 176–179.…”

Section: Resultsmentioning

confidence: 99%

“…For both risk of bias and applicability to the review question, the majority (n=129) had some concerns,41 42 44–67 69–87 89–149 151–170 172–174 and five had a high level of concern43 68 88 150 171 (figure 3).…”

Section: Resultsmentioning

confidence: 99%

Are non-invasive or minimally invasive autopsy techniques for detecting cause of death in prenates, neonates and infants accurate? A systematic review of diagnostic test accuracy

et al. 2023

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ObjectivesTo assess the diagnostic accuracy of non-invasive or minimally invasive autopsy techniques in deaths under 1 year of age.DesignThis is a systematic review of diagnostic test accuracy. The protocol is registered on PROSPERO.ParticipantsDeaths from conception to one adjusted year of age.Search methodsMEDLINE (Ovid), EMBASE (Ovid), CINAHL (EBSCO), the Cochrane Library, Scopus and grey literature sources were searched from inception to November 2021.Diagnostic testsNon-invasive or minimally invasive diagnostic tests as an alternative to traditional autopsy.Data collection and analysisStudies were included if participants were under one adjusted year of age, with index tests conducted prior to the reference standard.Data were extracted from eligible studies using piloted forms. Risk of bias was assessed using Quality Assessment of Diagnostic Accuracy Studies-2. A narrative synthesis was conducted following the Synthesis without Meta-Analysis guidelines. Vote counting was used to assess the direction of effect.Main outcome measuresDirection of effect was expressed as percentage of patients per study.FindingsWe included 54 direct evidence studies (68 articles/trials), encompassing 3268 cases and eight index tests. The direction of effect was positive for postmortem ultrasound and antenatal echography, although with varying levels of success. Conversely, the direction of effect was against virtual autopsy. For the remaining tests, the direction of effect was inconclusive.A further 134 indirect evidence studies (135 articles/trials) were included, encompassing 6242 perinatal cases. The addition of these results had minimal impact on the direct findings yet did reveal other techniques, which may be favourable alternatives to autopsy.Seven trial registrations were included but yielded no results.ConclusionsCurrent evidence is insufficient to make firm conclusions about the generalised use of non-invasive or minimally invasive autopsy techniques in relation to all perinatal population groups.PROSPERO registration numberCRD42021223254.

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“…This syndrome is named after Dr. Teresa E Berry, who and her colleagues from Chicago Memorial Children's Hospital first described this entity 2 . It is an extremely rare disease, accounting for only 0.046% of all reported cases of congenital heart anomalies 3 . It is more common in males (67.1%), presents commonly before 3 months with one or more clinical symptoms, including cyanosis, respiratory distress, cardiac murmur, symptoms of congestive cardiac failure, and other systemic symptoms 4 …”

Section: Case Reportmentioning

confidence: 99%

“…2 It is an extremely rare disease, accounting for only 0.046% of all reported cases of congenital heart anomalies. 3 It is more common in males (67.1%), presents commonly before 3 months with one or more clinical symptoms, including cyanosis, respiratory distress, cardiac murmur, symptoms of congestive cardiac failure, and other systemic symptoms. 4 The occurrence of an atrial septal defect in a patient with berry syndrome is extremely rare with only two patients reported out of 68 patients for whom details are available in the literature.…”

mentioning

confidence: 99%