scholarly journals Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population

Medicina ◽  
2022 ◽  
Vol 58 (1) ◽  
pp. 79
Author(s):  
Cristina Gug ◽  
Ioana Mozos ◽  
Adrian Ratiu ◽  
Anca Tudor ◽  
Eusebiu Vlad Gorduza ◽  
...  
Keyword(s):  
High Risk ◽  
False Positive ◽  
Chromosomal Abnormalities ◽  
Screening Method ◽  
Chorionic Villus ◽  
Low Risk ◽  
Chorionic Villus Sampling ◽  
Acid Extraction ◽  
Number Of Patients ◽  
Fetal Fraction

Background and Objectives: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, 13, sex chromosomes aneuploidies and several microdeletions. This study aimed to assess the accuracy of cell free DNA testing based on low-level whole-genome sequencing to screen for these chromosomal abnormalities and to evaluate the clinical performance of NIPT. Materials and Methods: 380 consecutive cases from a single genetic center, from Western Romania were included in this retrospective study. Cell-free nucleic acid extraction from maternal blood, DNA sequencing and analysis of sequenced regions were performed by BGI Hong Kong and Invitae USA to determine the risk of specific fetal chromosomal abnormalities. In high-risk cases the results were checked by direct analysis of fetal cells obtained by invasive methods: 6 chorionic villus sampling and 10 amniocenteses followed by combinations of QF-PCR, karyotyping and aCGH. Results: NIPT results indicated low risk in 95.76% of cases and high risk in 4.23%. Seven aneuploidies and one microdeletion were confirmed, the other results were found to be a false-positive. A gestational age of up to 22 weeks had no influence on fetal fraction. There were no significant differences in fetal fraction across the high and low risk groups. Conclusions: This is the first study in Romania to report the NIPT results. The confirmation rate was higher for autosomal aneuploidies compared to sex chromosome aneuploidies and microdeletions. All cases at risk for trisomy 21 were confirmed. Only one large fetal microdeletion detected by NIPT has been confirmed. False positive NIPT results, not confirmed by invasive methods, led to the decision to continue the pregnancy. The main limitation of the study is the small number of patients included. NIPT can be used as a screening method for all pregnancies, but in high-risk cases, an invasive confirmation test was performed.

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

scholarly journals CanAssist Breast Impacting Clinical Treatment Decisions in Early-Stage HR+ Breast Cancer Patients: Indian Scenario

2019 ◽  
Author(s):  
Satish Sankaran ◽  
Jyoti Bajpai Dikshit ◽  
Chandra Prakash SV ◽  
SE Mallikarjuna ◽  
SP Somashekhar ◽  
...  
Keyword(s):  
High Risk ◽  
Early Stage ◽  
Risk Groups ◽  
Treatment Decisions ◽  
Low Risk ◽  
Not Given ◽  
Breast Cancer Patients ◽  
Number Of Patients ◽  
Risk Of Cancer ◽  
The Impact

AbstractCanAssist Breast (CAB) has thus far been validated on a retrospective cohort of 1123 patients who are mostly Indians. Distant metastasis–free survival (DMFS) of more than 95% was observed with significant separation (P < 0.0001) between low-risk and high-risk groups. In this study, we demonstrate the usefulness of CAB in guiding physicians to assess risk of cancer recurrence and to make informed treatment decisions for patients. Of more than 500 patients who have undergone CAB test, detailed analysis of 455 patients who were treated based on CAB-based risk predictions by more than 140 doctors across India is presented here. Majority of patients tested had node negative, T2, and grade 2 disease. Age and luminal subtypes did not affect the performance of CAB. On comparison with Adjuvant! Online (AOL), CAB categorized twice the number of patients into low risk indicating potential of overtreatment by AOL-based risk categorization. We assessed the impact of CAB testing on treatment decisions for 254 patients and observed that 92% low-risk patients were not given chemotherapy. Overall, we observed that 88% patients were either given or not given chemotherapy based on whether they were stratified as high risk or low risk for distant recurrence respectively. Based on these results, we conclude that CAB has been accepted by physicians to make treatment planning and provides a cost-effective alternative to other similar multigene prognostic tests currently available.

False-positive and false-negative findings on chorionic villus sampling

1987 ◽  
Vol 7 (9) ◽  
pp. 671-672 ◽  
Author(s):  
G. Simoni ◽  
M. Fraccaro ◽  
G. Gimelli ◽  
F. Maggi ◽  
F. Dagna Bricarelli
Keyword(s):  
False Positive ◽  
False Negative ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Negative Findings

Evaluation of the Clinical Significance of Immunophenotyping in Myelodysplastic Syndrome.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4834-4834
Author(s):  
Dan D. Liu ◽  
Xue L. Jiao ◽  
Mei J. Geng ◽  
Ming Q. Zhu ◽  
Jing X. Gong ◽  
...  
Keyword(s):  
High Risk ◽  
Myelodysplastic Syndrome ◽  
Chromosomal Abnormalities ◽  
Bone Marrow Cells ◽  
Cell Lineage ◽  
Low Risk ◽  
Specific Marker ◽  
Myeloid Lineage ◽  
Hematologic Disorder ◽  
Myeloid Antigens

Abstract The myelodysplastic syndrome (MDS) is a clonal hematologic disorder with extremely heterogeneous cell component. Diagnosis is currently depending on the dysplastic morphology of bone marrow cells and the presence of specific cytogenetic abnormalities. Since no specific marker could be identified in MDS, it is sometimes hard to distinguish from other anemias, such as aplastic anemia (AA). The cell immunotype may be helpful in differential diagnosis and predicting the disease progress. To evaluate the clinical usage of immunotyping in MDS patients, we have compared the immunotypes between 36 MDS patients, 18 patients with AA and 11 healthy controls by using flow cytometry. Moreover, in combination with karyotype analysis and prognosis indicator IPSS, the value of immunotyping was further analyzed and discussed. Our results demonstrated: In MDS-RA patients, the distribution of surface antigen on BM cells had no preferential difference between lymphoid and myeloid lineages. In RAEB patients, expressions of CD13, CD33 and CD34 were prevailing, significantly higher than others(P<0.05). In contrast, in AA patients, expressions of CD2, CD7, CD19, CD20 were significantly higher than other surface antigens(P<0.05). In high risk MDS (RAEB/RAEB-t) patients, the cells expressing B cell lineage antigens (CD19,CD20) are markedly less than that in healthy people(P<0.05)while percentage of myeloid lineage antigen (CD13,CD33) are much higher than that in health control(P<0.05), However, in low risk MDS patients (RA) the frequency of expression of all myeloid, T and B lymphoid lineage antigens were not different from that in health controls. The distribution pattern of these three lineage antigens in high risk MDS patients was remarkably different with those of AA patients(P<0.05). Comparing with low-risk MDS, high-risk MDS expressed more myeloid lineage antigens (P<0.05)while expressed less B lineage antigens(P<0.05). In MDS patients, expression of CD14 was correlated with special chromosomal abnormalities defined by IPSS Our results suggested: The pattern of immunotype distribution in MDS cells are highly heterogenous. Expressions of myeloid antigens was predominant in MDS patients. Immunotyping can be helpful for discriminating MDS from AA and for monitoring the disease progression from low risk to high risk MDS. Expressions of certain immunotype are correlated with prognosis of MDS.

Second Report of Clinical Significance of sFas for DLBCL Treated with CHOP and New Analysis of sFas for DLBCL Treated with R-CHOP.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 1570-1570
Author(s):  
Hisashi Tsurumi ◽  
Takeshi Hara ◽  
Jun-ichi Kitagawa ◽  
Naoe Goto ◽  
Nobuhiro Kanemura ◽  
...  
Keyword(s):  
High Risk ◽  
Prognostic Factor ◽  
B Cell Lymphoma ◽  
Low Risk ◽  
Significant Prognostic Factor ◽  
Chop Regimen ◽  
Number Of Patients ◽  
Group A ◽  
Sfas Level ◽  
Group B

Abstract Introduction: We have previously reported serum concentration of sFas predict a clinical outcome of patients with DLBCL. Here, we added the number of patients and confirmed that a high serum sFas level was associated with unfavorable prognosis of patients with DLBCL. Patients and methods: We used a prospective, consecutive entry design, and the study protocol was approved by the Institution’s Review Board. Between October 1995 and September 2002 previously untreated 132 patients with DLBCL (Group A: patients treated without rituximab) and between December 2002 and March 2007 previously untreated 75 patients with DLBCL (Group B: patients treated with rituximab) confirmed by biopsy participated in this study. We considered eligible for this study all patients with histologically confirmed diagnosis of DLBCL, according to the Working-Formulation and the WHO classification. Serum sFas was determined using ELISA. Patients were assigned to receive eight cycles of CHOP or THP (tetrahydropyranyl-adriamycin) -COP therapy before September 2002. The patients who had been registered after October, 2002 received the R-CHOP or R-THP-COP therapy. A serum sFas level of 3.0ng /ml was used as the cut-off value in this study. All follow-up data were updated on March 1, 2007. Results: In Group A: 132 patients were enrolled in this category (82 males, 50 females, age; 14 to 92 years, median; 66 years). IPI scoring was available in all patients; accordingly 18.2% patients were classified as low risk, 25.8% as low-intermediate; 32.6% as high-intermediate, and 23.5% as high risk. Overall, the CR rate was 73.5%; PRs were observed in 7.6% and failures in 18.9%. The CR rates for patients with an sFas level of 3.0ng /ml and over and less than 3.0ng /ml were 51.1% and 81.6%, respectively (P&lt;0.0005). The 5-year OS rates for patients with an sFas level of 3.0ng /ml and over and less than 3.0ng /ml were 19.8% and 61.9%, respectively (P&lt;0.0001). In Group B: 75 patients were enrolled in this category (42 males, 33 females, age; 24 to 88 years, median; 69 years). IPI scoring was as follows; 22.6% patients were classified as low risk, 26.6% as low-intermediate; 21.3% as high-intermediate, and 29.3% as high risk. Overall, the CR rate was 72.0%; PRs were observed in 22.7% and failures in 5.3%. The CR rates for patients with a sFas level of 3.0ng /ml and over and less than 3.0ng /ml were 65.6% and 76.7%, respectively (NS). The 2-year OS rates for patients with an sFas level of 3.0ng /ml and over and less than 3.0ng /ml were 54.7% and 92.2, respectively (P&lt;0.01). Multivariate analysis using the proportional hazards model revealed that sFas concentration significantly correlated with overall survival in both group A and B (p&lt;0.05). Discussion: The IPI is now considered as the most reliable index. After introduction of rituximab to treat for B cell lymphoma, the change of the prognostic factor is expected. In this examination, initially, we could confirm that sFas was an important prognostic factor for DLBCL in the patients who are treated with CHOP regimen as a result of extending the period of surveillance. In addition, we could show that sFas is a useful prognostic factor for DLBCL in the patients who are treated with R-CHOP regimen, too. Conclusion: Serum sFas is a significant prognostic factor for DLBCL and a useful tool for selecting the appropriate therapeutic strategy in patients with DLBCL.

Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high- or very-low-risk pregnancies

1993 ◽  
Vol 13 (10) ◽  
pp. 929-944 ◽  
Author(s):  
Ingo Kennerknecht ◽  
Gotthold Barbi ◽  
Michael Wolf ◽  
Mahmoud Djalali ◽  
Dieter Grab ◽  
...  
Keyword(s):  
Chorionic Villus ◽  
Low Risk ◽  
Chorionic Villus Sampling ◽  
Very High

scholarly journals Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Haishan Peng ◽  
Jiexia Yang ◽  
Dongmei Wang ◽  
Fangfang Guo ◽  
Yaping Hou ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
False Positive ◽  
Case Reports ◽  
Screening Method ◽  
Prenatal Testing ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
True Positive ◽  
Trisomy 16

Abstract Background Trisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes. Methods A retrospective analysis of 14 cases with high risk of T16 by noninvasive prenatal testing (NIPT) was conducted. All cases in the analysis involved prenatal diagnosis, karyotyping and chromosomal microarray analysis. Case reports NIPT detected 12 cases of T16 and 2 cases of T16 mosaicism. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. Among the 5 true positive cases, 3 cases had ultrasound abnormalities. All of the 9 false positive cases continued their pregnancies. The newborns who were from these 9 false positive cases except 1 case (case 7) had low birth weights (< 2.5 kg) and there were also 2 premature deliveries. Conclusion NIPT serves as a fast and early prenatal screening method, giving clues to chromosome abnormalities and providing guidance for managing pregnancy. Confined placental mosaicism in 16 pregnancies may be at higher risk for preterm delivery.

scholarly journals Identification and Validation of m6A-Related lncRNA Signature as Potential Predictive Biomarkers in Breast Cancer

2021 ◽  
Vol 11 ◽  
Author(s):  
Wenchang Lv ◽  
Yichen Wang ◽  
Chongru Zhao ◽  
Yufang Tan ◽  
Mingchen Xiong ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Risk Score ◽  
Assessment Tool ◽  
Cox Regression ◽  
Screening Method ◽  
Predictive Biomarkers ◽  
Risk Groups ◽  
Low Risk ◽  
Main Challenge

The metastasis and poor prognosis are still regarded as the main challenge in the clinical treatment of breast cancer (BC). Both N6-methyladenosine (m6A) modification and lncRNAs play vital roles in the carcinogenesis and evolvement of BC. Considering the unknown association of m6A and lncRNAs in BC, this study therefore aims to discern m6A-related lncRNAs and explore their prognostic value in BC patients. Firstly, a total of 6 m6A-related lncRNAs were screened from TCGA database and accordingly constructed a prognostic-predicting model. The BC patients were then divided into high-risk and low-risk groups dependent on the median cutoff of risk score based on this model. Then, the predictive value of this model was validated by the analyses of cox regression, Kaplan-Meier curve, ROC curve, and the biological differences in the two groups were validated by PCA, KEGG, GSEA, immune status as well as in vitro assay. Finally, we accordingly constructed a risk prognostic model based on the 6 identified m6A-related lncRNAs, including Z68871.1, AL122010.1, OTUD6B-AS1, AC090948.3, AL138724.1, EGOT. Interestingly, the BC patients were divided into the low-risk and high-risk groups with different prognoses according to the risk score. Notably, the risk score of the model was an excellent independent prognostic factor. In the clinical sample validation, m6A regulatory proteins were differentially expressed in patients with different risks, and the markers of tumor-associated macrophages and m6A regulators were co-localized in high-risk BC tissues. This well-validated risk assessment tool based on the repertoire of these m6A-related genes and m6A-related lncRNAs, is of highly prognosis-predicting ability, and might provide a supplemental screening method for precisely judging BC prognosis.

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