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Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations.

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PROVIDER: S-EPMC7705415 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BACKGROUND: Current resuscitation guidelines recommend 3:1 Compression:Ventilation (C:V) ratio, however the most effective C:V ratio in newborns remains controversial. We recently demonstrate that if chest compressions (CC) are superimposed by sustained inflations (SI) return of spontaneous circulation (ROSC) and mortality are improved in asphyxiated newborn piglets when compared to standard coordinated 3:1 resuscitation. However, this has not been studied in newborns. OBJECTIVES: To determine if CC superimposed with SI impacts ROSC in infants <33 weeks with bradycardia or asystole compared to coordinated 3:1 C:V resuscitation. DESIGN/METHODS: In a pilot study, infants born <33 weeks gestational age with an heart rate <60/min or asystole were randomized to receive either “3:1 C:V” or “SS+CC”. Infants randomized to 3:1 received coordinated CC and ventilation according to the current resuscitation guidelines. Infants randomized to “SI+CC” received uninterrupted CC at a rate of 90/min superimposed by a SI of 30 sec. The default settings for airway pressures were peak inflation pressure of 24 cm H2O and a positive end expiratory pressure of 6 cm H2O. The primary outcome was duration of CC to achieve ROSC. Deferral of consent was approved by the institutional ethics committee. The trial was registered at ClinicalTrials.gov: NCT02083705. RESULTS: Five infants were randomized to each group; the mean (range) gestational age was 25 (24–27) weeks vs. 26 (23–28) weeks in the in the SI+CC and 3:1 group (P=0.433), respectively. Mean (SD) birth weight in the SI+CC group was 797 (208) g vs. 808 (182) g in the 3:1 group, (P=0.465) respectively. Mean (SD) ROSC was significantly decreased in the SI+CC group with 31 (8) sec vs. 138 (72) sec in the 3:1 group (P=0.011). One infant in each group died and only one infant in the 3:1 group received epinephrine. One infant in the SI+CC group and three in the 3:1 had intracranial hemorrhage grade 3 or greater. Three infants in the SI+CC group had necrotizing enterocolitis vs. one infant in the 3:1 group (P=0.197). CONCLUSION: Preterm infants <33 weeks had significant shorter ROSC when CC were superimposed by SI compared to using 3:1.

Project description:In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogentest2 Coordination Action Project. The main goal of this meeting was to discuss developments at the interface between clinical genetics and ARTs. As more genetic causes of reproductive failure are now recognised and an increasing number of patients undergo testing of their genome before conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and preimplantation genetic diagnosis (PGD) may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from randomised clinical trials to substantiate that the technique is both effective and efficient. Whole-genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (International Standards Organisation - ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving but still remains very heterogeneous and often contradictory. The lack of legal harmonisation and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe and beyond. The aim of this paper is to complement previous publications and provide an update of selected topics that have evolved since 2005.

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Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations.

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