Clinical laboratory最新文献

{"title":"Identifying TP53 Copy Number Variations in Hematologic Malignancies with a Digital PCR Method.","authors":"Wei Zhao, Dongming Yao, Qian Yuan, Jiang Lin, Di Yu, Jun Qian","doi":"10.7754/Clin.Lab.2024.241051","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241051","url":null,"abstract":"<p><strong>Background: </strong>Tumor protein p53 (TP53) is a well-known tumor suppressor gene, of which allelic status has widely been raising concern in recent years. Copy number (CN) loss in this gene results in either haploinsufficiency or loss of function. Though detection methods like next generation sequencing (NGS) or array-based comparative genomic hybridization (aCGH) can be applied, the accurate and cost-effective identification of copy number variation (CNV) remains a challenge for in-hospital laboratories.</p><p><strong>Methods: </strong>In this study, we developed a digital PCR method to quantify the TP53 copy number in hematologic malignancies. Two Taqman probes were designed to be placed at the 5th and 7th exons of TP53 gene, while another one was placed at the RPP30 gene. By performing the experiments with the DNA of 102 healthy checkup individuals and two leukemia cell lines, we established the characteristics of the assay performance, including the limits of blank (LOB), the limits of detection (LOD), the linearities, and the coefficients of variation at the LOD levels. Forty-two samples from patients newly diagnosed with leukemia, lymphoma, myeloma, or myelodysplastic syndrome were further tested for validation. The results were then compared with other reports related to their allelic statuses of TP53.</p><p><strong>Results: </strong>The lower LOB of the exon 5 and exon 7 were revealed to be 1.756 and 1.836 copies per genome, respectively, while the upper limits were 2.008 and 2.041. The LOD for CN loss of two exons were 1.692 and 1.777 copies per genome, respectively. Taking NGS results as reference, 1.716 and 1.786 copies per genome for exon 5 and exon 7, respectively, were decided as the cutoff values for CN loss using the receiver operator curve (ROC) method. The areas under curve (AUC) for both exons reached 1.</p><p><strong>Conclusions: </strong>All in all, we consider dPCR an excellent tool for identifying TP53 CNV status in hematologic malignancies.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143962240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of an Effective Method to Enrich Cell-Free Nucleic Acids in Liquid Samples.","authors":"Arizumi Kikuchi, Azumi Naruse, Kenichi Nonaka, Kimiaki Takagi, Motoki Mori, Kaname Tsutsumiuchi","doi":"10.7754/Clin.Lab.2024.241023","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241023","url":null,"abstract":"<p><strong>Background: </strong>We aimed to establish a method to extract cell-free DNA (cfDNA) from liquid samples by combining protamine solution with nucleic acid extraction reagents.</p><p><strong>Methods: </strong>Samples comprised 1 mL EDTA/2K plasma from healthy individuals (n = 22) and 5, 10, 20, and 40 mL K562 cell culture supernatants. After adding protamine solution and NaCl, the samples were incubated and subsequently centrifuged. Genomic DNA (gDNA) was extracted using a High Pure PCR Template Preparation Kit. For comparison, plasma was extracted using a cobas® cfDNA Sample Preparation Kit. The gDNA was subjected to real-time quantitative PCR.</p><p><strong>Results: </strong>Our method yielded results comparable to those obtained using a cfDNA-specific kit. Culture supernatants showed volume-dependent yield variations, and gDNA was successfully extracted from samples of all volumes following enrichment.</p><p><strong>Conclusions: </strong>Our method enhanced cfDNA enrichment, highlighting its potential for seamless integration with commonly available nucleic acid extraction reagents to process large sample volumes.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and Classification of Anemia among Renal Failure Patients of Al Majmaah and Al Zulfi Hospitals, Riyadh, Saudi Arabia.","authors":"Reem S B Alotaibi, Johra Khan, Saeed S Shaikh, Aeshah S Alotaibi, Aseel S Alotaibi, Modhi D Alotaiby","doi":"10.7754/Clin.Lab.2024.241046","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241046","url":null,"abstract":"<p><strong>Background: </strong>Anemia is a grave problem of renal failure and has important adversative consequences. When unhealthy renal system drops its capability to make the erythropoietin critical to the formation of hemoglobin, anemia is developed. Anemia with renal failure is well-defined as a condition in which the level of hemoglobin (Hb) in the blood is under the normal range.</p><p><strong>Methods: </strong>A retrospective study was done to evaluate the prevalence of anemia in individuals diagnosed with renal failure at the hospitals of Al Majma'ah and Al Zulfi in Saudi Arabia. The patients' data were collected from June 2020 through June 2024, and 152 participants diagnosed with renal failure and undergoing hemodialysis have been included in the study.</p><p><strong>Results: </strong>The study included 63% males and 37% females, and 77% in Majmaah and 59% in Zulfi were anemic. The average age of participants in Majmaah was 55.1 years, while in Zulfi, the average age was 53.4 years. Hb level in Majmaah was 10.1 g/dL, matching the 10.8 g/dL in Zulfi. The averages of the mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were higher in patients from Majmaah compared to Zulfi, with values of 92.325 fL vs. 88.78 fL and 29.671 pg vs. 28.82 pg, respectively, and with minimal variations in mean corpuscular hemoglobin concentration (MCHC; 32.2 g/dL vs. 32.5 g/dL). The mean glycated hemoglobin (HbA1c) levels were 6.2% and 6.5% at Majmaah and Zulfi, respectively. Ferritin levels were substantially higher in Majmaah than in Zulfi (569.6 ng/mL vs. 487.3 ng/mL). The mean urea and creatinine concentrations were higher in Majmaah than in Zulfi (22.5 md/dL vs. 10.9 mg/dL and 746.7 µmol/L vs. 476.2 µmol/L). Significant differences in Hb levels were observed between patients with and without anemia. HbA1c levels approached significance in Maj-maah but not in Zulfi. Hb exhibited a significant negative correlation with ferritin (r = -0.349, p < 0.05). MCV showed a strong positive correlation with MCH (r = 0.730, p < 0.05) and a positive correlation with urea (r = 0.225). Additionally, MCH was significantly and positively correlated with MCHC (r = 0.394, p < 0.05) and urea (r = 0.241, p < 0.05).</p><p><strong>Conclusions: </strong>The prevalence of anemia was generally high among renal failure patients treated at Majmaah and Zulfi hospitals. Normocytic normochromic anemia is the most prevalent type in patients with renal failure. Preventive measures and targeted interventions are necessary to reduce anemia prevalence in patients of renal failure in Saudi Arabia.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143955374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictive Value of Serum D-Dimer and Prothrombin Time for Adverse Events in Patients with Acute Myocardial Infarction.","authors":"Peng Yang, Qi-Xiang Zhang, Zi-Kun Huang","doi":"10.7754/Clin.Lab.2024.240941","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.240941","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to investigate the predictive value of D-dimer (D-D) and prothrombin time for severity and adverse cardiovascular events in patients with acute myocardial infarction (AMI).</p><p><strong>Methods: </strong>A total of 314 patients who were diagnosed with AMI and underwent percutaneous coronary intervention (PCI) in the Department of Cardiology, Linquan People's Hospital, from January 2020 to December 2023 were selected. According to Killip classification, patients were divided into severe and non-severe AMI groups. Within 2 hours after admission, 3 mL of cubital venous blood were drawn for blood biochemical and coagulation tests. According to the patient's electrocardiogram, coronary angiography, and other tests, the diagnosis of acute myocardial infarction was confirmed.</p><p><strong>Results: </strong>D-D and prothrombin time (PT) in the severe group were significantly higher than those in the non-severe group, and the difference was statistically significant (p < 0.05). The number of patients with PCI of left circumflex artery, right coronary artery stent implantation, single and double stent implantation in the severe group was higher than that in the non-severe group, and the results were statistically significant (p < 0.05). The results of ROC curve showed that the area under the curve, sensitivity, and specificity of D-D and PT were significantly better than those of cardiac troponin T(cTnT) and N-terminal pro-brain natriuretic peptide (NT-proBNP) in patients with severe myocardial infarction (p < 0.05). In addition, the results of bivariate regression analysis showed that D-D and PT were significantly correlated with Killip classification (p < 0.05). Multivariate logistic regression analysis showed that previous history of heart failure, left ventricular ejection fraction, PT, and D-D were independent risk factors for adverse cardiovascular events in patients with AMI (p < 0.05).</p><p><strong>Conclusions: </strong>Serum D-D and PT have important predictive value for adverse cardiovascular events in patients with AMI.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143956697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Prevalence and Characteristics of Anemia Among Newly-Diagnosed Patients with Leukemia in Saudi Arabia.","authors":"Rana G Zaini, Wafa A Nawwab, Shmooa Alharthi, Nawal F Alboqami, Samiyah A Hazzazi, Thamer A Althubaity, Maryam A Altowirgi","doi":"10.7754/Clin.Lab.2024.241002","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241002","url":null,"abstract":"<p><strong>Background: </strong>Anemia in patients with leukemia results in poor quality of life (QOL) and increased risk of complications from chemotherapy. We aimed to identify the prevalence and characteristics of anemia among newly-diagnosed patients with acute and chronic leukemia.</p><p><strong>Methods: </strong>A retrospective cohort included all patients diagnosed with leukemia at King Faisal Medical Complex in Taif City, Saudia Aribia, from 2019 through 2023.</p><p><strong>Results: </strong>From 49 patients newly diagnosed with leukemia, 57% were males, and 40.8% were more than 60 years old. The prevalence of anemia was 83.6%. The mean hemoglobin level was 9.7 ± 3 g/dL. Furthermore, 36.7% had acute myeloid leukemia (AML), 36.7% had chronic lymphocytic leukemia (CLL), 22.5% had acute lymphoblastic leukemia (ALL), while only 2% had chronic myeloid leukemia (CML) and 2% had non-Hodgkin lymphoma (NHL). The most common type of anemia was normocytic normochromic anemia (55.6%), followed by macrocytic hyperchromic anemia (24.4%). All patients diagnosed with AML, ALL, CML, or NHL had anemia at time of diagnosis. However, the prevalence of anemia among patients diagnosed with CLL was 55%.</p><p><strong>Conclusions: </strong>Anemia is highly prevalent among patients with leukemia at time of diagnosis. Early identification and correction are crucial to improve QOL and reduce complications from chemotherapy.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"B-ALL with CD34 Negative and Surface Immunoglobulin Light Chain Restricted Expression.","authors":"Simin Chen, Xiaofeng Yang, Yingying Chen, Zhihua Zhang, Xinhong Yang","doi":"10.7754/Clin.Lab.2024.241018","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241018","url":null,"abstract":"<p><strong>Background: </strong>The morphologic features of acute lymphoblastic leukemia (ALL) overlap greatly with other blastoid-HGBL or some mature B-cell lymphomas. Blastoid morphology is currently a diagnostic challenge.</p><p><strong>Methods and results: </strong>Our case presents a B-ALL with surface IgD and immunoglobulin light chain Kappa restricted expression, CD13 and CD33 were partial expressed and negative for CD34. The patient achieved morphologic remission after one cycle of treatment.</p><p><strong>Conclusions: </strong>In this case, the expression of immunophenotypic features does not clearly distinguish whether the B cells are in a mature or immature stage. In some situations, these lymphoblasts cells are hardly distinguishable from mature cells.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143962237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Presence of Ghost Capsules in Stool Mimicking Parasites due to Extended Release Metformin.","authors":"Işılay K-Sarı, Ayşegül S-Keskin, Zafer Adıgüzel, Hande B-Cam","doi":"10.7754/Clin.Lab.2024.241019","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241019","url":null,"abstract":"<p><strong>Background: </strong>This case report presents the history, findings, and diagnostic workup of a 28-year-old woman who presented to the hospital with a yellowish, parasite-like structure in her stool.</p><p><strong>Methods: </strong>The patient had no significant gastrointestinal complaints other than weight loss and decreased appetite, and no parasites or leukocytes were detected on direct examination of the stool.</p><p><strong>Results: </strong>No eosinophilia, elevated C-reactive protein or leukocytosis was detected in laboratory tests. It was suggested that the structure in the stool of the patient whose symptoms occurred after taking extended-release metformin could be a ghost tablet, and further investigation was not considered necessary.</p><p><strong>Conclusions: </strong>The report emphasizes the importance of considering drug-related side effects, especially ghost pills, in patients with atypical stool findings to avoid unnecessary investigations and anxiety.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CEA, CA19-9, and CA72-4 in Gastric Cancer Diagnosis and Progression: a Chinese Retrospective Case-Control Study.","authors":"Lingyan Deng, Tongxin Yin, Huijun Li, Xu Wang, Jiaoyuan Li, Ke Liu, Tingting Long, Yi Wang, Liming Cheng","doi":"10.7754/Clin.Lab.2024.240931","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.240931","url":null,"abstract":"<p><strong>Background: </strong>The usefulness of serum carcinoembryonic antigen (CEA), carbohydrate antigen (CA) 19-9, and CA72-4 for diagnosis, predicting progression, and monitoring recurrence of gastric cancer (GC) remains unclear.</p><p><strong>Methods: </strong>We conducted a retrospective investigation in this study. A total of 564 GC cases were enrolled, and 529 cases with benign gastric disease were recruited as controls. The clinical data and results of biomarker detections were collected.</p><p><strong>Results: </strong>The median concentrations (IQR) of CEA, CA19-9, and CA72-4 in GC patients were 2.38 ng/mL (1.47 - 4.47), 10.52 U/mL (6.17 - 20.20), and 2.42 U/mL (1.26 - 6.58), respectively, which were significantly different from those in controls (all p < 0.001). However, the areas under the ROC curve (AUCs) were 0.633, 0.565, and 0.621, respectively. When combining the three biomarkers, the optimal sensitivity, specificity, and AUC were 39.15%, 86.93%, and 0.652, respectively. The concentrations of biomarkers increased incrementally with the pathological stages (all p < 0.001). However, the PPVs in comparison with early/advanced GC, no/with lymph node metastasis, and distant metastasis were modest. No significant difference in preoperative levels was observed in patients with and without recurrence. Significant difference was shown in both recurrence and no recurrence group when com-paring the baseline and endpoint levels (all p < 0.05).</p><p><strong>Conclusions: </strong>CEA, CA19-9, and CA72-4 were not applicable biomarkers for diagnosis, and the combination did not achieve better diagnosis efficiency. The levels of biomarkers cannot predict advanced GC, lymph node metastasis, and distant metastasis well. The measurements of biomarkers may not effectively identify recurrence after curative radical gastrectomy.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chediak-Higashi Syndrome: a Comprehensive Case Report and Literature Review.","authors":"Rui Deng, Jiangyang Zhao, Jiahui Liang, Mingyi Li, Zuoxin Deng, Xuehua Hu, Chunhua Lan","doi":"10.7754/Clin.Lab.2025.250224","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250224","url":null,"abstract":"<p><strong>Background: </strong>Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, immune dysfunction, and neurologic abnormalities.</p><p><strong>Methods: </strong>This paper aims to provide a detailed understanding of the clinical presentation, laboratory examination, genetic basis, EEG/MRI, diagnostic challenges, and current management strategies for CHS through a new case report and a analysis of the current literature.</p><p><strong>Results: </strong>The analysis of the case report and literature indicates that CHS requires vigilant clinical observation for early diagnosis and effective treatment. The analysis highlights the necessity for advanced therapies that are both more efficient and cost-effective, given the current limitations in treatment options.</p><p><strong>Conclusions: </strong>The study concludes that further research is needed to develop more efficient and economical therapies for CHS that can enhance patient outcomes. The development of such therapies will be crucial in addressing the unmet needs of patients with this rare genetic disorder.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143955510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal Genetic Diagnosis of Williams-Beuren Syndrome with Atypical and Complex Phenotypes.","authors":"Weiqiang Liu, Haibing Zhong, Dingya Cao, Jinshuang Song, Tong Zhang, Shuxian Zeng, Xiaoyi Cong, Min Chen","doi":"10.7754/Clin.Lab.2024.241020","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241020","url":null,"abstract":"<p><strong>Background: </strong>Williams-Beuren syndrome (WBS) is a severe congenital disorder that presents challenges in prenatal diagnosis due to the atypical or incomplete phenotypes exhibited by affected fetuses. This study investigated the relationship between genotype and complex phenotype in WBS fetuses using ultrasound, SNP array, and whole exome sequencing.</p><p><strong>Methods: </strong>Chromosomal microarray analysis (CMA) and whole genome sequencing (WES) were conducted on pregnant women undergoing prenatal diagnosis. We analyzed genome-wide copy number variants (CNVs), regions of homozygosity (ROH), single nucleotide variants (SNVs), small insertions and deletions, and splice sites.</p><p><strong>Results: </strong>A deletion at 7q11.23 was identified in 7 out of 6,718 prenatal diagnostic samples (1 in 960). Ultrasound findings varied: two fetuses exhibited cardiovascular anomalies; one presented with persistent left superior vena cava and intrauterine growth retardation (IUGR), while two others displayed polycystic kidney dysplasia, one accompanied by mild tricuspid regurgitation, and the remaining two fetuses showed no apparent ultrasound abnor-malities. Genetic analysis revealed CNVs ranging in size from 1.43 to 1.66 megabase pairs (Mb), affecting 34 to 41 genes. On average, one additional CNV larger than 100 kilobase pairs (Kb) of unknown significance and 0.43 ROH larger than 5 Mb were identified in these cases. Although pathogenic or likely pathogenic SNV or splice sites related to renal development and cardiovascular development were found, none correlated with the fetal phenotype observed.</p><p><strong>Conclusions: </strong>The phenotypes of WBS fetuses are often atypical and complex. Future research should focus on integrating advanced genetic technologies and improved imaging modalities to enhance our understanding of the intricate genotype-phenotype relationships associated with WBS.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}