扩大携带者筛查在孕前和产前人群中的临床实用性：一项中国队列研究。

IF 3.2 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinica Chimica Acta Pub Date : 2024-10-24 DOI:10.1016/j.cca.2024.120017

Yan Xu , Ming Li , Renyi Hua , Xu Han , Yi Wu , Yiyao Chen , Xinrong Zhao , Li Gao , Niu Li , Jian Wang , Yanlin Wang , Shuyuan Li

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引用次数: 0

摘要

目的：评估扩大携带者筛查（ECS）在中国孕前和产前人群中的临床应用：评估扩大携带者筛查（ECS）在中国孕前和产前人群中的临床实用性，重点关注携带者频率和对高危夫妇（ARC）的影响：方法：分析了来自 4420 个家庭的 6298 名中国人的数据，这些人在一个中心接受了 149 个基因的 ECS 筛查。结果：在接受筛查的个体中，2,298 人是阳性携带者：结果：在接受筛查的个体中，有 2673 人（42.4%）是至少一种致病或可能致病变体的携带者，98 人（2.22%）是 ARCs。GJB2相关性耳聋和杜氏肌营养不良症是最常见的常染色体隐性遗传（AR）和X连锁疾病。筛选前 11 个（基因携带率[GCR] ≥ 1/100）、22 个（GCR ≥ 1/200）和 41 个（GCR ≥ 1/331）AR 基因可分别鉴定出 53.5%、67.9% 和 81.3%的变异。已鉴定的 ARC 的相应比率分别为 90.4%、94.0% 和 100%。来自 80 个 ARC 的后续数据表明，75.0%（60/80）的 ARC 根据 ECS 结果采取了重大行动。此外，有四个家庭（3.5%，4/115）被确认有可能患上与其最初家族单基因病史无关的第二种疾病：这项研究是在中国人群中进行的规模最大的一次中等规模的 ECS 面板测试，证明了 ECS 在健康人和有单基因疾病家族史的人中的临床实用性。所获得的数据为开发中国人专用的 ECS 面板提供了宝贵的见解。量身定制的方法对于 ECS 的广泛采用和成功常规应用至关重要。

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Clinical utility of expanded carrier screening in the preconception and prenatal population: A Chinese cohort study

Objectives

To evaluate the clinical utility of expanded carrier screening (ECS) in Chinese preconception and prenatal populations, focusing on carrier frequency and the impact on at-risk couples (ARCs).

Methods

Data from 6,298 Chinese individuals from 4,420 families who underwent a 149-gene ECS panel at a single center were analyzed. The prevalence of positive carriers and ARCs was determined, with follow-up on reproductive decisions and pregnancy outcomes for ARCs.

Results

Of the individuals screened, 2,673 (42.4 %) were carriers of at least one pathogenic or likely pathogenic variant, and 98 (2.22 %) ARCs were identified. GJB2-related deafness and Duchenne muscular dystrophy were the most common autosomal recessive (AR) and X-linked disorders. Screening the top 11 (gene carrier rate [GCR] ≥ 1/100), 22 (GCR ≥ 1/200), and 41 (GCR ≥ 1/331) AR genes could identify 53.5 %, 67.9 %, and 81.3 % of variants, respectively. The corresponding ratios for identified ARCs were 90.4 %, 94.0 %, and 100 %. Follow-up data from 80 ARCs indicated that 75.0 % (60/80) took significant action based on the ECS results. Additionally, four families (3.5 %, 4/115) were identified at risk for a second disease unrelated to their initial family monogenic history.

Conclusions

This study, representing the largest cohort of a moderate-sized ECS panel test in the Chinese population, demonstrates the clinical utility of ECS in both healthy individuals and those with a family history of monogenic disorders. The data obtained provide valuable insights for developing a Chinese-specific ECS panel. Tailored approaches are critical for wider adoption and successful routine application of ECS.

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来源期刊

Clinica Chimica Acta 医学-医学实验技术

CiteScore

10.10

自引率

2.00%

发文量

1268

审稿时长

23 days

期刊介绍： The Official Journal of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Clinica Chimica Acta is a high-quality journal which publishes original Research Communications in the field of clinical chemistry and laboratory medicine, defined as the diagnostic application of chemistry, biochemistry, immunochemistry, biochemical aspects of hematology, toxicology, and molecular biology to the study of human disease in body fluids and cells. The objective of the journal is to publish novel information leading to a better understanding of biological mechanisms of human diseases, their prevention, diagnosis, and patient management. Reports of an applied clinical character are also welcome. Papers concerned with normal metabolic processes or with constituents of normal cells or body fluids, such as reports of experimental or clinical studies in animals, are only considered when they are clearly and directly relevant to human disease. Evaluation of commercial products have a low priority for publication, unless they are novel or represent a technological breakthrough. Studies dealing with effects of drugs and natural products and studies dealing with the redox status in various diseases are not within the journal''s scope. Development and evaluation of novel analytical methodologies where applicable to diagnostic clinical chemistry and laboratory medicine, including point-of-care testing, and topics on laboratory management and informatics will also be considered. Studies focused on emerging diagnostic technologies and (big) data analysis procedures including digitalization, mobile Health, and artificial Intelligence applied to Laboratory Medicine are also of interest.