Jun Ren, Cuiting Peng, Han Chen, Fan Zhou, Yuezhi Keqie, Yutong Li, Hong Yang, Haixia Zhang, Ze Du, Ting Hu, Xuemei Zhang, Shan Luo, Wei Fan, Yan Wang, He Wang, Xinlian Chen, Shanling Liu
{"title":"基于亚洲筛查阵列和下一代测序的面板应用于 294 个家庭的单基因遗传病胚胎植入前检测的临床前工作:回顾性分析","authors":"Jun Ren, Cuiting Peng, Han Chen, Fan Zhou, Yuezhi Keqie, Yutong Li, Hong Yang, Haixia Zhang, Ze Du, Ting Hu, Xuemei Zhang, Shan Luo, Wei Fan, Yan Wang, He Wang, Xinlian Chen, Shanling Liu","doi":"10.1002/pd.6639","DOIUrl":null,"url":null,"abstract":"ObjectiveCurrently, the most commonly used methods for linkage analysis of pre‐implantation genetic testing for monogenic disorders (PGT‐M) are next generation sequencing (NGS) and SNP array. We aim to investigate whether the application efficacy of Asian screening array (ASA) in PGT‐M preclinical workup for the Chinese population is superior to NGS based single nucleotide polymorphism (SNP) panels.MethodsWe conducted a retrospective analysis by reviewing 294 couples from a single center over the past 4 years and compared the detection results between NGS‐based SNP panels and ASA. Using the numbers of informative SNPs upstream and downstream flanking of variants, we assessed the detection efficiency of both methods in monogenic diseases, chromosomal microdeletion syndrome and males with de novo variants, among other scenarios.ResultsResults indicate that ASA offers a greater number of informative SNPs compared with NGS‐based SNP panels. Additionally, data analysis for ASA is generally more straightforward and may require less computational resources. While ASA can address most PGT‐M challenges, we have also identified certain genes in previous tests that are not suitable for PGT‐M using ASA.ConclusionThe application of ASA in PGT‐M preclinical workup for Chinese populations has good practical value as it can perform linkage analysis for most genetic variants. However, for certain variants, NGS or other testing methods, such as mutated allele revealed by sequencing with aneuploidy and linkage analysis (MARSALA), may still be necessary for completion.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7000,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Asian Screening Array and Next‐Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis\",\"authors\":\"Jun Ren, Cuiting Peng, Han Chen, Fan Zhou, Yuezhi Keqie, Yutong Li, Hong Yang, Haixia Zhang, Ze Du, Ting Hu, Xuemei Zhang, Shan Luo, Wei Fan, Yan Wang, He Wang, Xinlian Chen, Shanling Liu\",\"doi\":\"10.1002/pd.6639\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"ObjectiveCurrently, the most commonly used methods for linkage analysis of pre‐implantation genetic testing for monogenic disorders (PGT‐M) are next generation sequencing (NGS) and SNP array. We aim to investigate whether the application efficacy of Asian screening array (ASA) in PGT‐M preclinical workup for the Chinese population is superior to NGS based single nucleotide polymorphism (SNP) panels.MethodsWe conducted a retrospective analysis by reviewing 294 couples from a single center over the past 4 years and compared the detection results between NGS‐based SNP panels and ASA. Using the numbers of informative SNPs upstream and downstream flanking of variants, we assessed the detection efficiency of both methods in monogenic diseases, chromosomal microdeletion syndrome and males with de novo variants, among other scenarios.ResultsResults indicate that ASA offers a greater number of informative SNPs compared with NGS‐based SNP panels. Additionally, data analysis for ASA is generally more straightforward and may require less computational resources. While ASA can address most PGT‐M challenges, we have also identified certain genes in previous tests that are not suitable for PGT‐M using ASA.ConclusionThe application of ASA in PGT‐M preclinical workup for Chinese populations has good practical value as it can perform linkage analysis for most genetic variants. However, for certain variants, NGS or other testing methods, such as mutated allele revealed by sequencing with aneuploidy and linkage analysis (MARSALA), may still be necessary for completion.\",\"PeriodicalId\":20387,\"journal\":{\"name\":\"Prenatal Diagnosis\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2024-07-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Prenatal Diagnosis\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/pd.6639\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Prenatal Diagnosis","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/pd.6639","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Asian Screening Array and Next‐Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis
ObjectiveCurrently, the most commonly used methods for linkage analysis of pre‐implantation genetic testing for monogenic disorders (PGT‐M) are next generation sequencing (NGS) and SNP array. We aim to investigate whether the application efficacy of Asian screening array (ASA) in PGT‐M preclinical workup for the Chinese population is superior to NGS based single nucleotide polymorphism (SNP) panels.MethodsWe conducted a retrospective analysis by reviewing 294 couples from a single center over the past 4 years and compared the detection results between NGS‐based SNP panels and ASA. Using the numbers of informative SNPs upstream and downstream flanking of variants, we assessed the detection efficiency of both methods in monogenic diseases, chromosomal microdeletion syndrome and males with de novo variants, among other scenarios.ResultsResults indicate that ASA offers a greater number of informative SNPs compared with NGS‐based SNP panels. Additionally, data analysis for ASA is generally more straightforward and may require less computational resources. While ASA can address most PGT‐M challenges, we have also identified certain genes in previous tests that are not suitable for PGT‐M using ASA.ConclusionThe application of ASA in PGT‐M preclinical workup for Chinese populations has good practical value as it can perform linkage analysis for most genetic variants. However, for certain variants, NGS or other testing methods, such as mutated allele revealed by sequencing with aneuploidy and linkage analysis (MARSALA), may still be necessary for completion.
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