Molecular Cytogenetics最新文献

{"title":"Prenatal diagnosis and molecular cytogenetic analyses of a rare 15q21.3 and 16p11.2 microduplication family.","authors":"Fei Zhang, Gaoqi Liao, Xin Wen, Chengcheng Zhang","doi":"10.1186/s13039-025-00711-w","DOIUrl":"https://doi.org/10.1186/s13039-025-00711-w","url":null,"abstract":"<p><strong>Background: </strong>Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Microduplication of 15q21.3 is rare and is associated with an increased risk of developmental retardation, corpus callosum hypoplasia, microcephaly, cardiomyopathy, optic nerve hypoplasia and so on. Microduplication of 16p11.2 is associated with 16p11.2 microduplication syndrome (OMIM: 614671). The main clinical manifestations are low birth weight, microcephaly, mental retardation, language retardation, abnormal behavior, attention deficit, schizophrenia, affective disorder, loneliness spectrum disorder and so on. Individuals who carry these two microduplications are even more rare.</p><p><strong>Materials and methods: </strong>In this research, a 32-year-old woman (gravida 1, para 0) underwent amniocentesis at 20 weeks' gestation because the results of ultrasound showed that one of the twins was smaller than the other.</p><p><strong>Results: </strong>Copy number variation sequencing (CNV-seq) from this family revealed two types of microduplication (420 kb microduplication on chromosome 15q21.3 and 560 kb microduplication on chromosome 16p11.2) in both fetuses. Trio whole-exome sequencing (WES) showed that the two types of microduplication both originated from the father. After genetic counselling and being informed of the unfavourable prognosis, the parents decided to continue the pregnancy.</p><p><strong>Conclusion: </strong>We provide a detailed description of the phenotype in a rare family with 15q21.3 and 16p11.2 microduplication. Combination of karyotype analysis, CNV-seq, WES, prenatal ultrasound and genetic counselling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"18 1","pages":"8"},"PeriodicalIF":1.3,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genomic landscape of childhood acute lymphoblastic leukemia in Malaysia: insights from array-CGH.","authors":"Azli Ismail, Fadly Ahid, Wong Nyuk Moi, Nor Rizan Kamaluddin, Ezalia Esa, Yuslina Mat Yusoff, Zahidah Abu Seman, Muhammad Asyraff Mohammed, Elizabeth George, Asmida Isa, Zubaidah Zakaria","doi":"10.1186/s13039-025-00709-4","DOIUrl":"https://doi.org/10.1186/s13039-025-00709-4","url":null,"abstract":"<p><strong>Background: </strong>Acute lymphoblastic leukemia (ALL) is the most common childhood cancer, comprising approximately 25% of pediatric malignancies. Notably, chromosomal aberrations and genetic alterations play a central role in the pathogenesis of ALL, serving as critical diagnostic and prognostic markers. In this study, we use array-based comparative genomic hybridization (array-CGH) to explore the landscape of copy number variations (CNVs) and variants of uncertain significance (VUS) in 67 Malaysian childhood ALL patients with normal karyotype.</p><p><strong>Results: </strong>A total of 36 pathogenic CNVs (26 gains, 10 losses) were identified in 19 (28.4%) patients which harbor genes related to the development of ALL. The genes include the MLLT3 (9p21.3), ETV6 (12p13.2), RUNX1 (21q22.12), ERG (21q22.2) and DMD (Xp21.1). On the other hand, a total of 46 variants of uncertain significance (VUS) was observed in 34 (50.7%) patients.</p><p><strong>Conclusions: </strong>Our study indicates that array-CGH is able to identify and characterize the CNVs responsible for the pathogenesis of childhood ALL. However, further studies are required to determine the pathogenic implications of VUS in the development of childhood ALL.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"18 1","pages":"7"},"PeriodicalIF":1.3,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11951632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Machine learning-based identification of telomere-related gene signatures for prognosis and immunotherapy response in hepatocellular carcinoma.","authors":"Zhengmei Lu, Xiaowei Chai, Shibo Li","doi":"10.1186/s13039-025-00705-8","DOIUrl":"10.1186/s13039-025-00705-8","url":null,"abstract":"<p><p>Telomere in cancers shows a main impact on maintaining chromosomal stability and unlimited proliferative capacity of tumor cells to promote cancer development and progression. So, we targeted to detect telomere-related genes(TRGs) in hepatocellular carcinoma (HCC) to develop a novel predictive maker and response to immunotherapy. We sourced clinical data and gene expression datasets of HCC patients from databases including TCGA and GEO database. The TelNet database was utilized to identify genes associated with telomeres. Genes with altered expression from TCGA and GSE14520 were intersected with TRGs, and Cox regression analysis was conducted to pinpoint genes strongly linked to survival prognosis. The risk model was developed using the Least Absolute Shrinkage and Selection Operator (LASSO) regression technique. Subsequently, evaluation of the risk model focused on immune cell infiltration, checkpoint genes, drug responsiveness, and immunotherapy outcomes across both high- and low-risk patient groups. We obtained 25 TRGs from the overlapping set of 34 genes using Cox regression analysis. Finally, six TRGs (CDC20, TRIP13, EZH2, AKR1B10, ESR1, and DNAJC6) were identified to formulate the risk score (RS) model, which independently predicted prognosis for HCC. The high-risk group demonstrated worse survival outcomes and showed elevated levels of infiltration by Macrophages M0 and Tregs. Furthermore, a notable correlation was observed between the genes in the risk model and immune checkpoint genes. The RS model, derived from TRGs, has been validated for its predictive value in immunotherapy outcomes. In conclusion, this model not only predicted the prognosis of HCC patients but also their immune responses, providing innovative strategies for cancer therapy.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"18 1","pages":"6"},"PeriodicalIF":1.3,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921577/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel MSH6 exon 5-6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management.","authors":"Ting-Yao Wang, Chao-Yu Chen, Huei-Chieh Chuang, Yuan-Yuan Jiang, Jrhau Lung","doi":"10.1186/s13039-025-00708-5","DOIUrl":"10.1186/s13039-025-00708-5","url":null,"abstract":"<p><p>Lynch syndrome is an autosomal dominant disorder predisposing individuals to colorectal and other cancers, primarily caused by variants in mismatch repair genes. This study describes a novel MSH6 variant affecting transcript structure in a Taiwanese family meeting the Amsterdam II criteria for Lynch syndrome. A 67-year-old male presented with jejunal adenocarcinoma and a strong family history of colorectal cancer. Immunohistochemistry revealed loss of MSH6 expression, while next-generation sequencing performed on tumor tissue failed to detect any MSH6 variants. Comprehensive genetic analysis, including RT-PCR and Sanger sequencing of both cDNA and genomic DNA, identified a novel exon 5-6 skipping variant in the MSH6 gene transcript (NM_000179.3:r.3262_3645del), linked to a 2268 bp deletion from the 3' portion of intron 4 to the middle of intron 6 of the MSH6 gene (NC_000002.12:g.47803007_47805274del). This variant was also detected in two of the patient's asymptomatic sons, highlighting its heritability and potential cancer predisposition. The study emphasizes the limitations of capture-enrichment NGS panels in detecting certain types of variants and underscores the value of orthogonal confirmation using cDNA analysis for transcript aberrations. The identification of this novel variant expands our understanding of Lynch syndrome's mutational spectrum and has implications for genetic diagnosis and counseling. Based on these findings, the patient was treated with pembrolizumab, resulting in stable disease for 8 months. This case highlights the importance of comprehensive genetic approaches in suspected Lynch syndrome cases and the potential utility of mRNA-based screening as an additional method when NGS analysis is negative and the clinical presentation strongly suggests Lynch syndrome.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"18 1","pages":"5"},"PeriodicalIF":1.3,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11900059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report.","authors":"Onyinye O Okonkwo, Veronica Ortega, Sheila Kane, Galina Aldrete, Paulina Ramirez, Philip T Valente, Gopalrao V N Velagaleti","doi":"10.1186/s13039-025-00707-6","DOIUrl":"10.1186/s13039-025-00707-6","url":null,"abstract":"<p><strong>Background: </strong>Gestational trophoblastic neoplasms consist of complete and partial hydatidiform moles, both of which are considered aberrant conceptuses. Both conditions, complete hydatidiform mole (CHM) and partial hydatidiform mole (PHM), differ in histological characteristics, genetic origin and content and clinical features. CHM have a diploid karyotype, mostly 46,XX but lack maternal genetic contribution with all chromosomes of paternal origin. High-resolution SNP microarray testing is an efficient method used to determine the parental contribution of the genomic material in molar pregnancies and confirm the diagnosis.</p><p><strong>Case presentation: </strong>We present a case of CHM in a 43-year-old, G3P2Ab1 who presented to the emergency department with 2 episodes of heavy bleeding. Chromosome analysis showed a normal 46,XX karyotype but with a homozygous pericentric inversion on chromosome 9. High-resolution SNP microarray studies detected whole genome uniparental isodisomy.</p><p><strong>Conclusion: </strong>We present a case of CHM with homozygous pericentric inversion on chromosome 9 and whole genome uniparental isodisomy. This case illustrates the efficacy of high-resolution SNP microarray in confirming the diagnosis of CHM.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"18 1","pages":"4"},"PeriodicalIF":1.3,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11863443/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143502866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.","authors":"Ekaterina N Tolmacheva, Anna A Kashevarova, Elizaveta A Fonova, Olga A Salyukova, Gulnara N Seitova, Lyudmila P Nazarenko, Anna A Agafonova, Larisa I Minaycheva, Ekaterina G Ravzhaeva, Valeria V Petrova, Maria E Lopatkina, Elena O Belyaeva, Svetlana L Vovk, Dmitry A Fedotov, Oksana Y Vasilyeva, Nikolay A Skryabin, Igor N Lebedev","doi":"10.1186/s13039-025-00703-w","DOIUrl":"10.1186/s13039-025-00703-w","url":null,"abstract":"<p><strong>Background: </strong>The X chromosome is enriched with genes related to brain development, and the hemizygous state of these genes in men causes some difficulties in the clinical interpretation of copy number variations (CNVs). In this study, we present data on the frequency and spectrum of CNVs on the X chromosome in a cohort of patients with neurodevelopmental disorders (NDDs).</p><p><strong>Methods: </strong>Chromosomal microarray analysis was performed for 1175 patients with NDDs. CNVs were confirmed by real-time quantitative PCR. X chromosome inactivation was analysed by methyl-sensitive PCR. To determine the pathogenic significance of the CNVs, several criteria, including the origin (inherited or de novo), variant type (microdeletion or microduplication), and X chromosome inactivation pattern in asymptomatic and symptomatic carriers, were considered. Additionally, the spectrum, size and molecular bases of copy number changes in genes or gene regions involved in the development of the pathological phenotype in each patient were considered.</p><p><strong>Results: </strong>CNVs on the X chromosome were identified in 33 patients (2.8%). Duplications and triplications (27 cases) were four times more common than deletions (6 cases). In 74% of patients, CNVs were of maternal origin; in 10% they were of paternal origin; and in 16% they arose de novo. The frequency of skewed X inactivation among family members who were healthy carriers of pathogenic and likely pathogenic CNVs and variants of uncertain significance (VUSs) on the X chromosome was 23%. For the first time, we reported several CNVs, including a pathogenic microdeletion at Xq26.1q26.2 involving the ARHGAP36 gene and a microduplication at Xp22.2 involving the OFD1 gene, CONCLUSIONS: This study expands on the frequency and spectrum of CNVs in patients with NDDs. Pathogenic variants on the X chromosome were present in 15% of cases, LP in 12%, VUS in 57%, and LB in 16% of cases. Previously unreported CNVs aid in the identification of new structural variants and genes associated with X-linked intellectual disability. We propose to consider the X-chromosome inactivation status when assessing the pathogenetic significance of CNVs using the ACMG algorithm (American College of Medical Genetics).</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"18 1","pages":"3"},"PeriodicalIF":1.3,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11846235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preparing high-quality chromosome spreads from Crocus species for karyotyping and FISH.","authors":"Abdullah El-Nagish, Susan Liedtke, Sarah Breitenbach, Tony Heitkam","doi":"10.1186/s13039-025-00706-7","DOIUrl":"10.1186/s13039-025-00706-7","url":null,"abstract":"<p><strong>Background: </strong>The saffron-producing Crocus sativus (L.) and its wild relative C. cartwrightianus (Herb.) are key species for understanding genetic evolution in this genus. Molecular-cytogenetic methods, especially fluorescent in situ hybridization (FISH), are essential for exploring the genetic relationships in this genus. Yet, preparing high-quality chromosomes for FISH analysis across Crocus species remains difficult. A standardized protocol for achieving clear and well-separated mitotic chromosomes is still lacking. This study aimed to assess the effectiveness of pretreatments with four chromosome synchronization methods for optimal chromosome spread preparation in Crocus. Root tips of different Crocus species were treated with four chromosome preparation methods namely hydroxyurea-colchicine (HC), nitrous oxide (NO), hydroxyquinoline (HQ), and ice water (IW) pretreatments to investigate their effectiveness in producing high-quality mitotic chromosome spreads. Metaphases obtained by the four methods were analyzed to assess their quality and metaphase index.</p><p><strong>Results: </strong>Evaluation of 22,507 cells allowed us to confidently recommend a protocol for Crocus chromosome preparation. Among the methods, ice water pretreatment yielded the highest metaphase index (2.05%), more than doubling the results of HC (1.08%), NO (1.15%), and HQ (1.16%). Ice water-treated chromosomes exhibited better chromosome morphology, with relatively proper size, and non-overlapping chromosomes that were optimal for FISH analysis. Ice water pretreatment was also applied to C. cartwrightianus, the diploid progenitor of C. sativus, where it demonstrated similar efficacy. DAPI staining of chromosomes in both species allowed for clear visualization of intercalary and terminal heterochromatin. FISH analysis using 18S-5.8S-25S and 5S rDNA probes confirmed the utility of IW-prepared chromosome spreads for cytogenetic studies.</p><p><strong>Conclusions: </strong>We strongly recommend ice water pretreatment as a suitable and effective method for obtaining many metaphase spreads of high-quality in C. sativus and related species, particularly for applications involving a detailed cytogenetic analysis.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"18 1","pages":"2"},"PeriodicalIF":1.3,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843997/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotypic and genotypic insights into concurrent tertiary trisomy for 9p and 18p.","authors":"Carter A Wright, Angela E Scheuerle, Kathleen Wilson, Rolando García, Prasad Koduru","doi":"10.1186/s13039-025-00704-9","DOIUrl":"10.1186/s13039-025-00704-9","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Carriers of balanced reciprocal translocation are usually phenotypically normal; however, they have an increased risk of producing gametes with chromosomal imbalance through different types of meiotic segregation of the translocation quadrivalent. The genetically imbalanced gametes when they survive can result in embryos with chromosomal abnormalities. Here we report a family with two siblings inheriting partial trisomy for 9p and 18p concurrently resulting from a 3:1 meiotic segregation of a maternal balanced translocation involving chromosome 9q and 18p, and the associated phenotype.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;The family - case presentation: &lt;/strong&gt;The family was ascertained because of severe congenital anomalies in a newborn male (sibling 1). The karyotype of this patient was 47,XY,+del(9)(q13q34). Cytogenetic analysis revealed that the phenotypically normal mother harbored a balanced translocation 46,XX,t(9;18)(q13;p11.21). Chromosomal microarray analysis (CMA) of the abnormal child detected segmental trisomy for 9p and 18p. In conjunction with conventional cytogenetic results of the mother and CMA results of the affected child, the final karyotype of sibling one was 47,XY,+der(9)t(9;18) (q13;p11.22)dmat. arr[GRCh36] 9p24.3q13(199254_70163189)× 3, 18p11.32p11.22(131491_9640590)× 3; this resulted in segmental duplication of 69.96 Mb on 9pter-&gt;q13 and 9.51 Mb on 18p. There was a subsequent birth of a female sibling (sibling two) with multiple anomalies, including dysmorphic facial features, kidney aberration, cardiac defects, and abnormal brain MRI. The G-banded karyotype of this sibling was 47,XX,+del(9)(q13q34). The final karyotype of this sibling after CMA results was 47,XX,+der(9)t(9;18)(q13;p11.22)dmat. arr[GRCh37] 9p24.3p13.1(209020_38763958)× 3; 18p11.32p11.22(146484_9640912)× 3. The apparent discrepancy between the array results of the two siblings is attributed to difference in the design of array chips and genome builds used for these patients (NimbleGen/Roche v2.0 3-plex and GRCh36 for sibling one, and GGXChip + SNP array and GRCh37 of Agilent Technologies for sibling two). There are 182 OMIM genes in the duplicated region of 9p and 33 OMIM genes in the duplicated region of 18p which may have contributed to the clinical features of the affected siblings.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;To our knowledge, we report the first two cases of concurrent partial trisomy 9p and 18p in the same family. This report adds more information about phenotypic effects of these chromosomal copy number gains and supports chromosomal microarray analysis as the standard for precise identification or demarking regions of duplications, particularly when the translocation involves at least one subterminal segment. In view of the recurring infants with congenital anomalies the couple may benefit from prenatal chromosome analysis of future pregnancies or opting to assisted reproductive methods and transferring normal embryos for implan","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"18 1","pages":"1"},"PeriodicalIF":1.3,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11808968/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143382721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Performance of cell free DNA as a screening tool based on the results of first trimester screening.","authors":"Mahtab Motevasselian, Mohammad Amin Omrani, Soraya Saleh Gargari, Sarang Younesi, Mohammad Mahdi Taheri Amin, Pourandokht Saadati, Soudabeh Jamali, Mohammad-Hossein Modarresi, Shahram Savad, Majid Rahmani, Saloomeh Amidi, Saeed Delshad, Fariba Navidpour, Samira Chagheri, Yalda Mohammadi, Sheyda Khalilian, Solat Eslami, Soudeh Ghafouri-Fard","doi":"10.1186/s13039-024-00702-3","DOIUrl":"10.1186/s13039-024-00702-3","url":null,"abstract":"<p><p>The advent of non-invasive prenatal testing (NIPT) in the screening of fetal abnormalities has optimized prenatal care and decreased the rate of invasive diagnostic tests. In this retrospective descriptive study, we began with 1874 singleton pregnancies. After exclusion of some cases, the study cohort ended up with 1674 cases. We analyzed the performance of NIPT based on the results of first trimester screening (FTS) using serum screening combined with NT. The cases were also compared to diagnostic testing/pregnancy outcomes. Notably, in the subgroup with FTS risk < 1000, NIPT was reported to be normal in all cases with no false negative results. In the risk group of 1/300-1/1000, NIPT could detect all trisomy 21 cases with one false positive result. Moreover, in the risk group of 1/11 - 1/300, NIPT could detect all cases of trisomy 21, 13 and 18 with low false positive rate. However, the false positive rate for sex chromosomal abnormalities was high. Taken together, the current study confirms the applicability of NIPT as a tool for detection of fetal trisomies with high sensitivity and specificity. Yet, the high rate of false positive results for sex chromosome abnormalities should be considered in the interpretation of the results.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"17 1","pages":"33"},"PeriodicalIF":1.3,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11662775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142872698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of third-generation sequencing technology in the genetic testing of thalassemia.","authors":"Weihao Li, Yanchou Ye","doi":"10.1186/s13039-024-00701-4","DOIUrl":"10.1186/s13039-024-00701-4","url":null,"abstract":"<p><p>Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern China. Severe α-thalassemia and intermediate α-thalassemia are among the most common birth defects in southern China. Intermediate α-thalassemia, also known as Hb H disease, is characterized by moderate anemia. Severe α-thalassemia, also known as Hb Bart's Hydrops fetalis syndrome, is a fatal condition. Infants with severe β-thalassemia do not show symptoms at birth but develop severe anemia later, requiring expensive treatment. Most untreated patients with severe β-thalassemia die in early childhood. Screening for thalassemia carriers and genetic diagnosis in high-prevalence areas significantly reduce the incidence of severe thalassemia. This review aims to summarize the genetic diagnostic approaches for thalassemia. Conventional genetic testing methods can identify 95-98% of thalassemia carriers but may miss rare thalassemia genotypes. Third-Generation Sequencing offers significant advantages in complementing other genetic diagnostic approaches, providing a basis for genetic counseling and prenatal diagnosis.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"17 1","pages":"32"},"PeriodicalIF":1.3,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11657128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}