Evaluating a Novel Newborn Screening Methodology: Combined Genetic and Biochemical Screenings

IF 4.7 3区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL
Bin Yu , Yuqi Yang , Lingna Zhou , Qiuwei Wang
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引用次数: 0

Abstract

Purpose

Analysis of four newborn screening modes using newborn genomic sequencing (nGS) and traditional biochemical screening (TBS).

Methods

Prospective clinical study with a total of 1,012 newborn samples from retrospective TBS. Three independent groups performed the study under strict double-blind conditions according to the screening modes: independent biochemical (IBS), independent NeoSeq (INS), sequential (SS), and combined (CS) screening. Using targeted sequencing, the NeoSeq panel included 154 pathogenic genes covering 86 diseases.

Results

Of the 1,012 newborns, 120 were diagnosed were diagnosed with genetic diseases Among them, 52 cases were within the scope of TBS and 68 additional cases were identified through nGS. The number of cases detected per screening mode was 50, 113, 56, and 119 for IBS, INS, SS, and CS, respectively. CS was the most satisfactory screening mode, with the detection rate of 99.17%, the specificity and positive predictive value of 100%, and the negative predictive value of 99.89%. In addition, of the 68 cases identified by nGS (96 variants in 31 pathogenic genes), only four participants (5.9%) had clinical manifestations consistent with the disease. The experimental reporting cycles of CS and INS were the shortest.

Conclusions

CS was the most satisfactory method for newborn screening, which combined nGS with TBS to improve early diagnosis.

评估一种新的新生儿筛查方法:基因和生化联合筛查
目的 分析使用新生儿基因组测序(nGS)和传统生化筛查(TBS)的四种新生儿筛查模式。方法 使用回顾性 TBS 共 1012 份新生儿样本进行前瞻性临床研究。三个独立小组在严格的双盲条件下按照筛查模式进行了研究:独立生化筛查(IBS)、独立 NeoSeq 筛查(INS)、顺序筛查(SS)和联合筛查(CS)。结果 在 1,012 名新生儿中,有 120 名被确诊为遗传病,其中 52 例属于 TBS 筛查范围,另有 68 例通过 nGS 筛查发现。 IBS、INS、SS 和 CS 每种筛查模式发现的病例数分别为 50、113、56 和 119 例。CS 是最令人满意的筛查模式,检出率为 99.17%,特异性和阳性预测值均为 100%,阴性预测值为 99.89%。此外,在通过 nGS 发现的 68 个病例(31 个致病基因中的 96 个变异)中,只有 4 名参与者(5.9%)有符合该疾病的临床表现。结论CCS是最令人满意的新生儿筛查方法,它将nGS与TBS相结合,提高了早期诊断率。
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来源期刊
Archives of Medical Research
Archives of Medical Research 医学-医学:研究与实验
CiteScore
12.50
自引率
0.00%
发文量
84
审稿时长
28 days
期刊介绍: Archives of Medical Research serves as a platform for publishing original peer-reviewed medical research, aiming to bridge gaps created by medical specialization. The journal covers three main categories - biomedical, clinical, and epidemiological contributions, along with review articles and preliminary communications. With an international scope, it presents the study of diseases from diverse perspectives, offering the medical community original investigations ranging from molecular biology to clinical epidemiology in a single publication.
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