Westphal Dominik S, Hauser Michael, Beckmann Britt-Maria, Wolf Cordula M, Hessling Gabriele, Oberhoffer-Fritz Renate, Wacker-Gussmann Annette
Department of Internal Medicine I, Klinikum Rechts der Isar, School of Medicine and Health, Technical University Munich, 81675 Munich, Germany.
Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine and Health, Technical University Munich, 81675 Munich, Germany.
J Clin Med. 2022 Nov 22;11(23):6880. doi: 10.3390/jcm11236880.
Introduction: The standard obstetric definition of fetal bradycardia is a sustained fetal heart rate < 110 bpm over at least 10 min. Fetal bradycardia can be the first and only prenatal presentation of a heart disease. We present an overview on different genetic disorders that should be taken into consideration in case of diagnosed fetal bradycardia. Methods: A literature review was conducted using a PubMed- and OMIM-based search for monogenetic disorders causing fetal bradycardia in September 2022. Results: The review on the literature identified nine monogenic diseases that could lead to fetal bradycardia. Four of these disorders can be associated with extracardiac findings. Discussion: Genetic testing should be considered in cases with fetal bradycardia, especially in cases of additional extracardiac findings. Broad sequencing techniques and improved prenatal phenotyping could help to establish a diagnosis in an increasing number of cases.
胎儿心动过缓的标准产科定义是胎儿心率持续低于110次/分钟至少10分钟。胎儿心动过缓可能是心脏病的首个也是唯一的产前表现。我们概述了在诊断胎儿心动过缓时应考虑的不同遗传疾病。方法:2022年9月,通过基于PubMed和OMIM的搜索对导致胎儿心动过缓的单基因疾病进行了文献综述。结果:文献综述确定了九种可能导致胎儿心动过缓的单基因疾病。其中四种疾病可能伴有心外表现。讨论:对于胎儿心动过缓的病例,尤其是伴有其他心外表现的病例,应考虑进行基因检测。广泛的测序技术和改进的产前表型分析有助于在越来越多的病例中做出诊断。