Foetal Persistent Left Superior Vena Cava-Not Always a Benign Finding?

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY
Nadezhda Dzhelepova, Caroline B Jones, Sophia Khan
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引用次数: 0

Abstract

Objective: To determine the proportion of patients with a persistent left superior vena cava (PLSVC) and structurally normal heart who have associated extra cardiac anomalies and/or genetic variations and to review their clinical outcomes.

Methods: A retrospective cohort study of foetuses with a prenatal diagnosis of PLSVC and structurally normal heart seen at Saint Mary's Hospital Foetal Medicine Unit Manchester, UK between January 2017 and December 2024. Outcome of the pregnancy and for the infants up to one year follow-up data was collected from Electronic Patient Records (EPR).

Results: Eighty cases of foetal persistent PLSVC were detected during the study period. Six were excluded from the study because of a postnatal diagnosis of congenital heart disease. 19 out of the 74 foetuses (25%) had associated extra-cardiac structural anomalies, with 5 of these diagnosed postnatally. Seven of the 74 patients (9.5%) had genetic abnormalities.

Conclusions: This study shows that PLSVC detected in foetus with an otherwise structurally normal heart is associated with an increased risk of extracardiac and genetic abnormalities. Therefore, we would recommend a detailed anatomy scan by an FMU specialist in all cases. There is a notable incidence of genetic and chromosomal abnormalities, which suggests that genetic testing is warranted in this patient population.

胎儿持续性左上腔静脉-不总是良性发现?
目的:确定持续性左上腔静脉(PLSVC)和结构正常心脏合并外心异常和/或遗传变异的患者比例,并回顾其临床结果。方法:回顾性队列研究2017年1月至2024年12月在英国曼彻斯特圣玛丽医院胎儿医学单元产前诊断为PLSVC且心脏结构正常的胎儿。从电子病历(EPR)中收集妊娠结局和婴儿长达一年的随访数据。结果:研究期间共检出胎儿持续性PLSVC 80例。6人因产后诊断为先天性心脏病而被排除在研究之外。74个胎儿中有19个(25%)伴有心外结构异常,其中5个在出生后被诊断出来。74例患者中有7例(9.5%)存在遗传异常。结论:本研究表明,在心脏结构正常的胎儿中检测到PLSVC与心外和遗传异常的风险增加有关。因此,我们建议在所有病例中由FMU专家进行详细的解剖扫描。有一个显着的发生率遗传和染色体异常,这表明基因检测是必要的,在这个病人群体。
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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
期刊介绍: Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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