Clinical implementation of first trimester screening for congenital heart defects.

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY
Prenatal Diagnosis Pub Date : 2024-06-01 Epub Date: 2024-05-13 DOI:10.1002/pd.6584
Marie Elisabeth Helmbæk, Karin Sundberg, Ditte Staub Jørgensen, Olav Bjørn Petersen, Martin Tolsgaard, Niels Grove Vejlstrup, Lotte Harmsen, Charlotte Kruse, Jesper Steensberg, Cathrine Vedel, Charlotte Kvist Ekelund
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引用次数: 0

Abstract

Objective: To examine the feasibility and performance of implementing a standardized fetal cardiac scan at the time of a routine first-trimester ultrasound scan.

Method: A retrospective, single-center study in an unselected population between March 2021 and July 2022. A standardized cardiac scan protocol consisting of a four-chamber and 3-vessel trachea view with color Doppler was implemented as part of the routine first-trimester scan. Sonographers were asked to categorize the fetal heart anatomy. Data were stratified into two groups based on the possibility of evaluating the fetal heart. The influence of maternal and fetal characteristics and the detection of major congenital heart disease were investigated.

Results: A total of 5083 fetuses were included. The fetal heart evaluation was completed in 84.9%. The proportion of successful scans increased throughout the study period from 76% in the first month to 92% in the last month. High maternal body mass index and early gestational age at scan significantly decreased the feasibility. The first-trimester detection of major congenital heart defects was 7/16, of which four cases were identified by the cardiac scan protocol with no false-positive cases.

Conclusion: First-trimester evaluation of the fetal heart by a standardized scan protocol is feasible to implement in daily practice. It can contribute to the earlier detection of congenital heart defects at a very low false positive rate.

先天性心脏缺陷孕期筛查的临床实施。
目的研究在第一胎常规超声扫描时实施标准化胎儿心脏扫描的可行性和效果:方法:在 2021 年 3 月至 2022 年 7 月期间对未选择的人群进行回顾性单中心研究。作为第一胎常规扫描的一部分,实施了标准化的心脏扫描方案,包括四腔三血管气管视图和彩色多普勒。要求超声技师对胎儿心脏解剖结构进行分类。根据评估胎儿心脏的可能性将数据分为两组。研究还调查了母体和胎儿特征的影响以及重大先天性心脏病的检出率:结果:共纳入 5083 个胎儿。结果:共纳入 5083 个胎儿,84.9% 的胎儿完成了胎心评估。在整个研究期间,成功扫描的比例从第一个月的 76% 增加到最后一个月的 92%。孕产妇体重指数高和扫描时胎龄过早会大大降低扫描的可行性。第一胎发现重大先天性心脏缺陷的比例为7/16,其中4例是通过心脏扫描方案发现的,没有假阳性病例:结论:通过标准化扫描方案对胎儿心脏进行首胎评估在日常实践中是可行的。结论:通过标准化扫描方案对胎儿心脏进行首胎评估在日常实践中是可行的,它有助于更早地发现先天性心脏缺陷,且假阳性率极低。
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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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