{"title":"日本先进医疗A下妊娠产物染色体分析中g带和下一代测序临床应用的比较前瞻性研究。","authors":"Hidemine Honda, Tsuyoshi Takiuchi, Mika Handa, Nao Wakui, Saori Tsuji, Takeshi Goto, Shota Suzuki, Fumie Saji, Tatsuya Miyake, Sakae Goto, Satomi Okamura, Tomomi Yamada, Michiko Kodama, Tadashi Kimura","doi":"10.1002/rmb2.12655","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To compare the clinical utility of G-banding and next-generation sequencing (NGS) for chromosomal analysis of products of conception (POC), a crucial tool for detecting fetal chromosomal abnormalities which are major causes of miscarriage and stillbirth.</p><p><strong>Methods: </strong>We evaluated the clinical utility of both techniques in a prospective analysis of 40 patients who experienced miscarriages or stillbirths between 6 and 36 weeks of gestation under Advanced Medical Care A in Japan. Both methods were applied to the same POC samples. The primary outcome was the proportion of patients with a presumed cause of miscarriage or stillbirth among all submitted samples.</p><p><strong>Results: </strong>NGS presumed the cause in 75.0% (30/40) of cases, significantly outperforming G-banding's 42.5% (17/40) (<i>p</i> < 0.01). G-banding could analyze 67.5% (27/40) of the samples owing to culture failure, whereas NGS successfully analyzed all samples (100%, 40/40) (<i>p</i> < 0.01). Among the successfully analyzed samples, NGS presumed the cause in 70.3% (19/27) of cases, compared with 62.9% (17/27) for G-banding (<i>p</i> = 0.31). For miscarriages before 12 weeks, NGS presumed the cause in 73.5% (25/34) of cases, significantly higher than the 44.1% (15/34) (<i>p</i> < 0.01) presumed using G-banding.</p><p><strong>Conclusions: </strong>These results highlight the superior efficacy of NGS over G-banding for presuming causes of miscarriage or stillbirth.</p>","PeriodicalId":21116,"journal":{"name":"Reproductive Medicine and Biology","volume":"24 1","pages":"e12655"},"PeriodicalIF":2.7000,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12044132/pdf/","citationCount":"0","resultStr":"{\"title\":\"Comparative prospective study on the clinical utility of G-banding and next-generation sequencing for chromosomal analysis of products of conception under Advanced Medical Care A in Japan.\",\"authors\":\"Hidemine Honda, Tsuyoshi Takiuchi, Mika Handa, Nao Wakui, Saori Tsuji, Takeshi Goto, Shota Suzuki, Fumie Saji, Tatsuya Miyake, Sakae Goto, Satomi Okamura, Tomomi Yamada, Michiko Kodama, Tadashi Kimura\",\"doi\":\"10.1002/rmb2.12655\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>To compare the clinical utility of G-banding and next-generation sequencing (NGS) for chromosomal analysis of products of conception (POC), a crucial tool for detecting fetal chromosomal abnormalities which are major causes of miscarriage and stillbirth.</p><p><strong>Methods: </strong>We evaluated the clinical utility of both techniques in a prospective analysis of 40 patients who experienced miscarriages or stillbirths between 6 and 36 weeks of gestation under Advanced Medical Care A in Japan. Both methods were applied to the same POC samples. The primary outcome was the proportion of patients with a presumed cause of miscarriage or stillbirth among all submitted samples.</p><p><strong>Results: </strong>NGS presumed the cause in 75.0% (30/40) of cases, significantly outperforming G-banding's 42.5% (17/40) (<i>p</i> < 0.01). G-banding could analyze 67.5% (27/40) of the samples owing to culture failure, whereas NGS successfully analyzed all samples (100%, 40/40) (<i>p</i> < 0.01). Among the successfully analyzed samples, NGS presumed the cause in 70.3% (19/27) of cases, compared with 62.9% (17/27) for G-banding (<i>p</i> = 0.31). For miscarriages before 12 weeks, NGS presumed the cause in 73.5% (25/34) of cases, significantly higher than the 44.1% (15/34) (<i>p</i> < 0.01) presumed using G-banding.</p><p><strong>Conclusions: </strong>These results highlight the superior efficacy of NGS over G-banding for presuming causes of miscarriage or stillbirth.</p>\",\"PeriodicalId\":21116,\"journal\":{\"name\":\"Reproductive Medicine and Biology\",\"volume\":\"24 1\",\"pages\":\"e12655\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2025-04-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12044132/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Reproductive Medicine and Biology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/rmb2.12655\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Reproductive Medicine and Biology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/rmb2.12655","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
目的:比较g -带和新一代测序(NGS)在妊娠产物(POC)染色体分析中的临床应用,POC是检测胎儿染色体异常的重要工具,是流产和死产的主要原因。方法:我们对40例妊娠6 - 36周流产或死产的患者进行前瞻性分析,评估了这两种技术的临床应用。两种方法均适用于相同的POC样品。主要结果是在所有提交的样本中推定原因为流产或死产的患者比例。结果:NGS推测病因率为75.0%(30/40),显著优于g带的42.5% (17/40)(p p p = 0.31)。对于12周前流产,NGS的推测率为73.5%(25/34),显著高于44.1% (15/34)(p)。结论:NGS在推测流产或死产原因方面优于g带。
Comparative prospective study on the clinical utility of G-banding and next-generation sequencing for chromosomal analysis of products of conception under Advanced Medical Care A in Japan.
Purpose: To compare the clinical utility of G-banding and next-generation sequencing (NGS) for chromosomal analysis of products of conception (POC), a crucial tool for detecting fetal chromosomal abnormalities which are major causes of miscarriage and stillbirth.
Methods: We evaluated the clinical utility of both techniques in a prospective analysis of 40 patients who experienced miscarriages or stillbirths between 6 and 36 weeks of gestation under Advanced Medical Care A in Japan. Both methods were applied to the same POC samples. The primary outcome was the proportion of patients with a presumed cause of miscarriage or stillbirth among all submitted samples.
Results: NGS presumed the cause in 75.0% (30/40) of cases, significantly outperforming G-banding's 42.5% (17/40) (p < 0.01). G-banding could analyze 67.5% (27/40) of the samples owing to culture failure, whereas NGS successfully analyzed all samples (100%, 40/40) (p < 0.01). Among the successfully analyzed samples, NGS presumed the cause in 70.3% (19/27) of cases, compared with 62.9% (17/27) for G-banding (p = 0.31). For miscarriages before 12 weeks, NGS presumed the cause in 73.5% (25/34) of cases, significantly higher than the 44.1% (15/34) (p < 0.01) presumed using G-banding.
Conclusions: These results highlight the superior efficacy of NGS over G-banding for presuming causes of miscarriage or stillbirth.
期刊介绍:
Reproductive Medicine and Biology (RMB) is the official English journal of the Japan Society for Reproductive Medicine, the Japan Society of Fertilization and Implantation, the Japan Society of Andrology, and publishes original research articles that report new findings or concepts in all aspects of reproductive phenomena in all kinds of mammals. Papers in any of the following fields will be considered: andrology, endocrinology, oncology, immunology, genetics, function of gonads and genital tracts, erectile dysfunction, gametogenesis, function of accessory sex organs, fertilization, embryogenesis, embryo manipulation, pregnancy, implantation, ontogenesis, infectious disease, contraception, etc.