keyword
https://read.qxmd.com/read/38284447/clinical-value-of-positive-cnvs-results-by-nipt-without-fetal-ultrasonography-identified-structural-anomalies
#21
JOURNAL ARTICLE
Changhong Wang, Li Mei, Yang Wan, Hong Li, Shanshan Luan, Jali Lu, Pei Wang, Liu Wen, Xue Han, Xiaona Li, Ningzhi Zhang
OBJECTIVE: To evaluate the clinical value of positive copy number variations (CNVs) results by non-invasive prenatal testing (NIPT) without fetal ultrasonography-identified structural anomalies, especially with several known CNVs results. METHODS: A total of 135,981 results of NIPT performed between April 1, 2017, and March 31, 2020, enrolled in the free NIPT service program implemented by the local government were retrospectively analyzed. Of these, 87 cases with positive NIPT screens for CNVs and no fetal ultrasonography-identified anomalies were recalled and provided genetic counseling...
January 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38280905/limited-ability-of-increased-sequencing-depth-in-detecting-cases-missed-by-noninvasive-prenatal-testing-a-comparative-analysis-of-3-clinical-cases
#22
JOURNAL ARTICLE
Yinghong Lu, Na Zuo, Minxia Ning, Yuling Xie, Weiwu Liu, Sisi Ning, Yi Liang, Xiao Chen, Yuping Zhang, Jun Feng, Yunrong Qin
Increased sequencing depth can improve the detection rate of noninvasive prenatal testing (NIPT) for chromosome aneuploidies and copy number variations (CNVs). However, due to the technical limitations of NIPT, false-positives and false-negatives are inevitable. False-positives for aneuploidy and CNVs have been widely reported, but few missed cases have been reported. In this study, we report 3 patients missed by NIPT, which were still missed after increasing the sequencing depth. To verify the detection efficiency of the platform, the results of NIPT in 32,796 patients treated in Yulin Women and Children Health Care Hospital from 2020 to 2022 were retrospectively analyzed...
January 27, 2024: Scientific Reports
https://read.qxmd.com/read/38280235/biotransformation-of-5-methoxy-n-isopropyl-n-methyltryptamine-by-zebrafish-and-human-liver-microsome-with-high-resolution-mass-spectrometry
#23
JOURNAL ARTICLE
Sen Zhao, Yanjiao Wang, Chenhao Zhong, Jinyuan Chen, Liang Meng
To explore the metabolites of 5-Methoxy-N-isopropyl-N-methyltryptamine (5-MeO-MiPT) and unveil its toxicological effects, we examined its metabolic profiles using zebrafish and human liver microsome models. Employing ultra-high-performance liquid chromatography Q Exactive hybrid quadrupole-Orbitrap high-resolution mass spectrometry (UPLC-QE-HRMS), we analyzed samples from intoxicated zebrafish and human liver microsomes. In the zebrafish model, we identified a total of six metabolites. Primary phase I metabolic pathways involved N-Demethylation and Indole-hydroxylation reactions, while phase II metabolism included Glucoside conjugation directly, Glucoside conjugation after Indole-hydroxylation, and Sulfonation following Indole-hydroxylation...
January 20, 2024: Journal of Pharmaceutical and Biomedical Analysis
https://read.qxmd.com/read/38278868/should-non-invasive-prenatal-testing-nipt-be-used-for-fetal-sex-determination-perspectives-and-experiences-of-healthcare-professionals
#24
JOURNAL ARTICLE
Zoƫ Claesen-Bengtson, Hilary Bowman-Smart, Eline Vermeersch, Joris Robert Vermeesch, Lidewij Henneman, Pascal Borry
Non-invasive prenatal testing (NIPT) can not only accurately detect early in pregnancy the presence of chromosomal abnormalities but also fetal sex. However, whether fetal sex should be reported after performing NIPT is ethically contentious. In Belgium, NIPT is practically fully reimbursed and offered to all pregnant women as a first-tier screening. In practice, fetal sex is reported upon request of the expectant parents; however, this is not stipulated in guidelines. As more countries are offering NIPT and looking to implement it in public healthcare, challenges and insights of healthcare professionals working in Belgium can be of value for others...
January 26, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38254992/non-invasive-prenatal-test-analysis-opens-a-pandora-s-box-identification-of-very-rare-cases-of-sry-positive-healthy-females-segregating-for-three-generations-thanks-to-preferential-inactivation-of-the-xqyp-translocated-chromosome
#25
Cristina Politi, Katia Grillone, Donatella Nocera, Emma Colao, Michelle Li Bellisario, Sara Loddo, Giorgia Catino, Antonio Novelli, Nicola Perrotti, Iuliano Rodolfo, Paola Malatesta
The translocation of the testis-determining factor, the SRY gene, from the Y to the X chromosome is a rare event that causes abnormalities in gonadal development. In all cases of males and females carrying this translocation, disorder of sex development is reported. In our study, we described a peculiar pedigree with the first evidence of four healthy females from three generations who are carriers of the newly identified t(X;Y)(q28;p11.2)(SRY+) translocation with no evidence of ambiguous genitalia or other SRY-dependent alterations...
January 16, 2024: Genes
https://read.qxmd.com/read/38216276/use-of-the-ms-mlpa-assay-in-prenatal-diagnosis-of-prader-willi-syndrome-with-mosaic-trisomy-15
#26
Meizi Zhang, Yuehong Liang, Hui Li, Fengqin Xu
OBJECTIVE: We present a prenatal diagnosis strategy of using Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) for the detection of maternal uniparental disomy 15/trisomy 15 (UPD(15) mat/T15) mosaicism. CASE REPORT: A 43-year-old woman underwent amniocentesis at 19 weeks of gestation due to a high risk of trisomy 15 (T15) as indicated by non-invasive prenatal testing (NIPT). Cytogenetic analysis revealed a karyotype of 46, XX of cultured amniocytes...
January 2024: Taiwanese Journal of Obstetrics & Gynecology
https://read.qxmd.com/read/38213211/a-fetus-with-maternal-uniparental-disomy-on-chromosome-20-case-report-with-genetic-analysis-and-prenatal-diagnosis
#27
Li-Qing Hu, Zhen Deng, Shu-Na Li, Wu-Yan Huang, Lei Li, Ge-Fei Xiao, Qi-Zhi Xiao
BACKGROUND: A fetus with increased copy number of chromosome 20 was identified by NIPT. Here we utilize several genetic tests and analyses to illuminate the etiology of such aneuploidy. METHODS: Amniotic fluid cells were extracted from pregnant woman and sent for karyotype and chromosomal microarray analysis (CMA). Trio pedigree analysis was conducted with Chromosome Analysis Suite and uniparental disomy (UPD)-tool software. RESULTS: CMA identified consistent results, which were 2 regions of homozygosity: arr[GRCh37]20p12...
January 1, 2024: Clinical Laboratory
https://read.qxmd.com/read/38207338/effect-of-uterine-leiomyomas-on-noninvasive-prenatal-testing-parameters-in-the-first-trimester
#28
JOURNAL ARTICLE
Teodora R Kolarova, Ali Alderson, Hayley MacKinnon, Leah Chen, Jillian G Buchan, Christina Lockwood, Raj Shree
Uterine leiomyomas may affect the performance of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT). We conducted a retrospective cohort study of pregnant individuals with and without leiomyomas undergoing first-trimester cfDNA-based NIPT. Characteristics of NIPT in patients with leiomyomas (n=122) were compared with those in patients without leiomyomas (n=937). Mean fetal fraction was lower in patients with leiomyomas compared with patients without (10.0% vs 11.5%; P=.001); however, the rate of indeterminate results was different only in patients without obesity (body mass index [BMI] lower than 30) (5...
January 11, 2024: Obstetrics and Gynecology
https://read.qxmd.com/read/38196919/comparison-of-chromosomal-microarray-analysis-and-noninvasive-prenatal-testing-in-pregnant-women-with-fetal-ultrasonic-soft-markers
#29
JOURNAL ARTICLE
Xianqing Hu, Yanjun Hu, Hai Wang, Caicha Yu, Jiayong Zheng, Hongping Zhang, Jianqiong Zheng
OBJECTIVE: This study aimed to assess the utility of chromosomal microarray analysis (CMA) and noninvasive prenatal testing (NIPT) in detecting clinically significant chromosomal abnormalities among fetuses presenting ultrasonic soft markers (USMs). METHODS: A retrospective observational study, spanning from January 1, 2019, to September 30, 2022, enrolled 539 singleton pregnant women with fetal USMs at our center. Of these, 418 cases (77.6%) underwent NIPT, while 121 cases (22...
2024: Risk Management and Healthcare Policy
https://read.qxmd.com/read/38189393/-value-of-non-invasive-prenatal-testing-for-rare-autosomal-trisomies-in-fetuses
#30
JOURNAL ARTICLE
X Xie, Q Zhao, L Hu, S Jiang, X Wang, W Zhang, Z Li, Y You, Y Lu
OBJECTIVE: To evaluate the value of non-invasive prenatal testing(NIPT)for detecting rare autosomal trisomies in fetuses. METHODS: We retrospectively analyzed the data of cases with rare autosomal trisomies detected by NIPT in our hospital from January, 2019 to April, 2023.Invasive prenatal diagnostic tests including chromosome karyotype analysis, chromosome microarray analysis, copy number variation sequencing, and fluorescence in situ hybridization were performed in all the cases after clinical counseling, and their test results and pregnancy outcomes were analyzed...
December 20, 2023: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://read.qxmd.com/read/38173101/-non-invasive-prenatal-testing-results-in-3733-cases-of-twin-pregnancy-and-association-with-factors-such-as-age
#31
JOURNAL ARTICLE
Hao-Yan Tu, Yuan Jiang, Zhai'e Lu
Objective To explore the clinical significance of non-invasive prenatal testing(NIPT)for fetal chromosomal abnormalities in the cases of twin pregnancy and its relationship with age and other related factors.Methods A total of 3733 women with twin pregnancy of 12-26+6 weeks who voluntarily underwent NIPT in the Ningbo Women and Children's Hospital from January 2018 to December 2022 were selected.The results of NIPT and amniocentesis were compared and all the participants were followed up.The detection rate of chromosomal abnormalities by NIPT was calculated,and its correlations with age,gestational weeks,chorionicity,and pregnancy type were analyzed...
December 30, 2023: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://read.qxmd.com/read/38171553/-clinical-application-of-non-invasive-prenatal-testing-for-twin-pregnancies
#32
JOURNAL ARTICLE
Jing Wang, Xueyan Wang, Xiao Song, Ping Zuo, Shengfang Qin, Na Xi, Chun Chen
OBJECTIVE: To evaluate the feasibility of non-invasive prenatal testing (NIPT) for the screening of fetal chromosome aneuploidies in twin pregnancies. METHODS: A total of 2 745 women with twin-pregnancies were subjected for NIPT screening. Chromosomal karyotyping and chromosomal microarray analysis (CMA) were carried out on amniotic fluid samples from those with a high risk for fetal chromosome aneuploidies, and the diagnosis and pregnancy outcome were followed up...
January 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/38171552/-genetic-analysis-of-the-false-positive-trisomy-7-and-false-negative-trisomy-18-by-nipt-plus
#33
JOURNAL ARTICLE
Yanhua Xiao, Ailing Wang, Rui Li, Jianhong Wang, Xinfeng Pang, Bei Zeng, Yufei Ma, Heng Wang, Chu Zhang, Pinxiao Zhang
OBJECTIVE: To explore the cause of inconsistency between the results of trisomy 7 by expanded non-invasive prenatal testing (NIPT-PLUS) and trisomy 18 by prenatal diagnosis. METHODS: A pregnant woman who received genetic counseling at Jiaozuo Maternal and Child Health Care Hospital on July 5, 2020 was selected as the study subject. NIPT-PLUS, systematic ultrasound and interventional prenatal testing were carried out. The middle segment and root of umbilical cord, center and edge of the maternal and fatal surface of the placenta were sampled for the validation by copy number variation sequencing (CNV-seq)...
January 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/38171551/-prenatal-diagnosis-and-outcome-of-pregnancy-for-women-with-high-risks-by-screening-of-fetal-free-dna-from-peripheral-blood-samples
#34
JOURNAL ARTICLE
Zhaoxia Li, Honglei Duan, Wei Liu, Ruifang Zhu, Jie Li
OBJECTIVE: To analyze the results of prenatal diagnosis and outcome of pregnancy for women with a high risk for fetal aneuploidies. METHODS: A total of 747 cases of prenatal diagnosis by amniocentesis due to high risks by non-invasive prenatal testing (NIPT) were selected from January 2015 to March 2022 in the Drum Tower Hospital Affiliated to Nanjing University Medical School. The amniotic fluid samples were subjected to chromosomal karyotyping and/or chromosomal microarray analysis...
January 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/38160831/ni-pt-nanozyme-mediated-relaxation-and-colorimetric-sensor-for-dual-modality-detection-of-norovirus
#35
JOURNAL ARTICLE
Lei Huang, Xue Zhang, Zefeng Mao, Sha Liu, Yanchun Li, Shuyue Ren, Huanying Zhou, Baolin Liu, Zhixian Gao
An NiPt nanozyme-mediated relaxation and colorimetric sensor is developed for dual-modality detection of norovirus (NoV). The relaxation modality is based on the "catalase-like" activity of the NiPt nanozyme, which adjusts the hydrogen peroxide (H2 O2 ) mediated Fe (II)/Fe(III) conversion, thereby changing the relaxation signal. Poly-γ-glutamic acid (MW ≈ 1w) can enhance the relaxivity of Fe(III) (r1  = 7.11 mM-1  s-1 ; r2  = 8.94 mM-1  s-1 )...
December 29, 2023: Science of the Total Environment
https://read.qxmd.com/read/38141050/limited-additional-value-of-karyotyping-cultured-amniotic-fluid-cell-colonies-in-addition-to-microarray-on-uncultured-cells-for-confirmation-of-abnormal-non-invasive-prenatal-testing-results
#36
JOURNAL ARTICLE
Stephany H Donze, Malgorzata I Srebniak, Karin E M Diderich, Myrthe van den Born, Robert-Jan Galjaard, Lutgarde C P Govaerts, Vyne van der Schoot, Maarten F C M Knapen, Marieke Joosten, Diane Van Opstal
OBJECTIVES: Non-invasive prenatal testing (NIPT) allows the detection of placental chromosome aberrations. To verify whether the fetus also has the chromosome aberration, diagnostic follow-up testing is required. The aim of this retrospective study was to assess the added value of analyzing amniotic fluid (AF) cell cultures in addition to uncultured AF cells for the detection of fetal mosaicism. METHOD: NIPT was performed as part of the Dutch TRIDENT study. Cytogenetic studies in uncultured AF were performed using single nucleotide polymorphism (SNP)-array...
December 23, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38116176/activation-of-cb2r-by-synthetic-cb2r-agonist-pm289-improves-brain-endothelial-barrier-properties-decreases-inflammatory-response-and-enhances-endothelial-repair
#37
JOURNAL ARTICLE
Trent A Bullock, Kalpani N Udeni Galpayage Dona, Jonathan F Hale, Paula Morales, Nadine Jagerovic, Allison M Andrews, Servio H Ramirez
The Cannabinoid 2 Receptor (CB2R) has been found to provide immunological modulation in different cell types. More recently, detection of CB2R in the cerebral endothelium suggests a possible role in the resolution of inflammation at the level of the blood-brain-barrier (BBB). Here, the notion that CB2R upregulation in brain endothelial cells could be exploited to promote vascular protection and BBB integrity was evaluated. Targeting and activation of CB2R was accomplished by a novel and highly specific chromenopyrazole based CB2R agonist, PM289...
December 2023: NeuroImmune Pharm Ther
https://read.qxmd.com/read/38097030/fetal-fraction-of-cell-free-dna-in-non-invasive-prenatal-testing-and-adverse-pregnancy-outcomes-a-nationwide-retrospective-cohort-study-of-56-110-pregnant-women
#38
JOURNAL ARTICLE
Ellis C Becking, Peter G Scheffer, Jens Henrichs, Caroline J Bax, Neeltje Mth Crombag, Marjan M Weiss, Merryn Ve Macville, Diane van Opstal, Elles Mj Boon, Erik A Sistermans, Lidewij Henneman, Ewoud Schuit, Mireille N Bekker
BACKGROUND: Non-invasive prenatal testing by cell-free DNA analysis is offered to pregnant women worldwide to screen for fetal aneuploidies. In non-invasive prenatal testing, the fetal fraction of cell-free DNA in the maternal circulation is measured as a quality control parameter. Since fetal cell-free DNA originates from the placenta, the fetal fraction might also reflect placental health and maternal pregnancy adaptation. OBJECTIVE: To assess the association between the fetal fraction and adverse pregnancy outcomes...
December 12, 2023: American Journal of Obstetrics and Gynecology
https://read.qxmd.com/read/38091054/importance-of-a-detailed-anomaly-scan-after-a-cfdna-test-indicating-fetal-trisomy-21-18-or-13
#39
JOURNAL ARTICLE
Tobias Spingler, Jiri Sonek, Markus Hoopmann, Natalia Prodan, Gertruda Jonaityte, Tania Elger, Karl Oliver Kagan
OBJECTIVE: To investigate the effect of the presence or absence of fetal anomalies and soft markers diagnosed by ultrasound on positive predictive value (PPV) 21, 18 and 13 in pregnancies with a high-risk cfDNA result. METHODS: Retrospective study including singleton pregnancies with high-risk NIPT results for common trisomies followed by invasive testing. The cases were grouped by gestational age at the time of invasive testing and by the presence or absence of fetal abnormalities or soft markers...
December 13, 2023: Archives of Gynecology and Obstetrics
https://read.qxmd.com/read/38084244/the-value-of-nipt-combined-with-serum-cell-free-dna-estriol-afp-and-b-hcg-levels-in-the-recognition-of-trisomy-21-and-18-in-the-second-trimester
#40
JOURNAL ARTICLE
JingLi Fu, XiaoYan Zhong, Dan Li, YunSheng Ge, XueQin Zhang
BACKGROUND: This study aimed to evaluate the clinical application value of noninvasive prenatal testing from DNA (NIPT) and serum screening for screening in detecting fetal trisomy 21 and 18. METHODS: As a retrospective analysis, we collected data from 1383 women (singleton pregnancy) who underwent serum screening and noninvasive prenatal testing from DNA (NIPT) in our department from May 2015 to September 2017 and calculated the diagnostic value of the two methods...
October 27, 2023: Journal of Medical Biochemistry
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