Prenatal Diagnosis of Complete Atrioventricular Septal Defect: Perinatal and Neonatal Outcomes by Gokhan Yıldırım, Kemal Gungorduk, Fehmi Yazıcıoğlu, Ahmet Gul, Fatma Çakar, Özgü Çelikkol, Yavuz Ceylan

“…The purpose of this study was to establish the outlook for fetuses diagnosed with complete atrioventricular septal defect (cAVSD) prenatally and its relation to additional cardiac, extracardiac, and chromosomal abnormalities. Methods. We retrospectively reviewed fetal echocardiograms diagnosed with cAVSD from January 2002 to December 2007, comparing fetuses with and without aneuploidy. …”
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How to Manage Low Estriol Levels in Pregnancies, One Center Experience by Elif YILMAZ GULEC, Alper GEZDIRICI, Akif AYAZ, Fatma Nihal OZTURK, Ibrahim POLAT

“…Although one fetal death was recorded, no chromosomal abnormality, SLOS, or congenital malformation was recorded in our series. …”
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Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases by Xu Yan, Kai Ding, Xin Zhang, Shuai Zhang, Haiying Peng, Ying Zhang

“…Conclusion Prenatal diagnosis for high-risk rare autosomal trisomies typically reveals a normal karyotype with no detectable chromosomal abnormalities, and most cases can achieve full-term pregnancy outcomes. …”
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An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma by Michele Massimino, Elena Tirrò, Stefania Stella, Cristina Tomarchio, Sebastiano Di Bella, Silvia Rita Vitale, Chiara Conti, Marialuisa Puglisi, Rosa Maria Di Crescenzo, Silvia Varricchio, Francesco Merolla, Giuseppe Broggi, Federica Martorana, Alice Turdo, Miriam Gaggianesi, Livia Manzella, Andrea Russo, Giorgio Stassi, Rosario Caltabiano, Stefania Staibano, Paolo Vigneri

“…Methods: Following the findings published by “The Cancer Genome Atlas–UM” (TCGA-UM) study, we developed an NGS-based gene panel (called the UMpanel) that classifies mutation sets in four categories: initiating alterations (<i>CYSLTR2</i>, <i>GNA11</i>, <i>GNAQ</i> and <i>PLCB4</i>), prognostic alterations (<i>BAP1</i>, <i>EIF1AX</i>, <i>SF3B1</i> and <i>SRSF2</i>), emergent biomarkers (<i>CDKN2A</i>, <i>CENPE</i>, <i>FOXO1</i>, <i>HIF1A</i>, <i>RPL5</i> and <i>TP53</i>) and chromosomal abnormalities (imbalances in chromosomes 1, 3 and 8). …”
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Chromothripsis in Treatment Resistance in Multiple Myeloma by Kyoung Joo Lee, Ki Hong Lee, Kyong-Ah Yoon, Ji Yeon Sohn, Eunyoung Lee, Hyewon Lee, Hyeon-Seok Eom, Sun-Young Kong

“…Multiple myeloma (MM) is a malignant disease caused by an abnormal proliferation of plasma cells, of which the prognostic factors include chromosomal abnormality, β-2 microglobulin, and albumin. Recently, the term chromothripsis has emerged, which is the massive but highly localized chromosomal rearrangement in response to a one-step catastrophic event. …”
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Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature by Yimo Zeng, Rong Hu, Jian Lu, Yiming Qi, Dan Chen, Chaoxiang Yang, Jing Wu

“…Overall, 28 foetuses were identified to have chromosomal abnormalities (6.9%, 28/407).Conclusions This study indicates that parents of foetuses with GB size anomalies should be informed about the potential for aneuploidy, pathogenic CNVs and SNVs, and genetic testing should be recommended in cases of non-isolated foetal GB size anomalies.…”
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A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia by Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman

“…There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20–25% of such cases. …”
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Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study by Achmad Kemal Harzif, Muhammad Ikhsan, Pritta Ameilia Iffanolida, Kresna Mutia, Budi Wiweko, R Muharam, Kanadi Sumapraja, Gita Pratama, Mila Maidarti, Vita Silvana, Amalia Shadrina, Irene Sinta Febriana, Nafi'atul Ummah, Aisyah Retno Puspawardani, Andon Hestiantoro

“…Notably, the incidence of specific chromosome abnormalities was outlined. We assess a comparativeanalysis to investigate the relationship between mosaicism and its corresponding clinical characteristics.Results: In the analysis of 196 embryos, 106 (54.1%) displayed chromosomal anomalies spanning from low-levelmosaicism to whole chromosome aneuploidy. …”
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Preimplantation genetic testing for aneuploidy in severe male factor infertility: protocol for a multicenter randomised controlled trial by Li Wang, Li Jin, Yao Lu, Chen Zhang, He-Feng Huang, Yun Sun, Xian-hua Lin, Meng-xi Guo, Dan-dan Wu, Jian-lin Zhang, Cheng-liang Zhou, Chen-ming Xu, Song-chang Chen, Song-ying Zhang, Xiao-xi Sun, Yan-ting Wu

“…Secondary outcomes will be embryo implantation rate, biochemical pregnancy rate, clinical pregnancy rate, spontaneous abortion rate, ongoing pregnancy rate, preterm birth rate, fetal chromosomal abnormality rate, birth defect rate and treatment complications. …”
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Maternal age-related declines in live birth rate following single euploid embryo transfer: a retrospective cohort study by Wei Jiang, Zichen Zheng, Nan Yan, Shuang Yao, Qijun Xie, Danyu Ni, Shanren Cao, Chun Zhao, Xiufeng Ling

“…Despite the exclusion of aneuploidy, age-related factors beyond chromosomal abnormalities appear to impact reproductive outcomes.…”
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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome by Sujie Xiong, Guangyao Hu, Yao Zhou, Fei Sun, Yanlin Ma

“…Moreover, no chromosomal abnormalities or pathogenic copy number variations (CNVs) were detected in the foetus. …”
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