Article
Genetics & Heredity
Szilvia Ando, Katalin Koczok, Beata Bessenyei, Istvan Balogh, Aniko Ujfalusi
Summary: Chromosome abnormalities are crucial in reproductive failure. A study in infertile patients found higher rates of structural aberrations compared to a control group, suggesting a potential causal relationship between these abnormalities and infertility.
Article
Immunology
Zaigui Wu, Miaomiao Wang, Guanmian Liang, Pengzhen Jin, Peng Wang, Yuqing Xu, Yeqing Qian, Xiuxiu Jiang, Junbin Qian, Minyue Dong
Summary: Recurrent pregnancy loss (RPL), particularly unexplained RPL, is associated with disruption of maternal immune tolerance. The study found that there is a pro-inflammatory signature in the decidua of RPL patients, but differences exist between RPL with and without chromosomal abnormalities.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Agriculture, Dairy & Animal Science
Sebastian Demyda-Peyras, Nora Laseca, Gabriel Anaya, Barbara Kij-Mitka, Antonio Molina, Ayelen Karlau, Mercedes Valera
Summary: Chromosomal abnormalities are commonly associated with fertility impairments in horses. This study aimed to analyze the prevalence of chromosomal diseases in a large population of Pura Raza Espanol horses using a two-step molecular tool. Thirteen individuals showed positive results for chromosomal abnormalities, including cases of sex development disorders, blood chimerism, Turner syndrome, Klinefelter syndrome, and complex karyotypes. The overall prevalence in the entire population was about 0.05%, with sex development disorders and blood chimerism occurring at rates of 0.02% and 0.016%, respectively.
Review
Genetics & Heredity
Dan Lei, Xin-Yu Zhang, Peng-Sheng Zheng
Summary: The prevalence of chromosomal abnormalities detected in products of conception (POCs) is lower in recurrent pregnancy loss than in sporadic pregnancy loss, and decreases with an increasing number of pregnancy losses.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Igor K. K. Khvostunov, Elena Nasonova, Valeriy Krylov, Andrei Rodichev, Tatiana Kochetova, Natalia Shepel, Olga Korovchuk, Polina Kutsalo, Petr Shegai, Andrei Kaprin
Summary: This study evaluates the cytogenetic damage induced by radioiodine therapy (RIT) in two rare differentiated thyroid cancer (DTC) cases, including the first follow-up study of a pediatric DTC patient. The results show that the risk of cytogenetic damage from RIT is low and a one-time administration of RIT is safe as long as the whole-body dose does not exceed 2 Gy. However, individual planning based on cytogenetic biodosimetry is strongly recommended for rare cases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Andrew Ip, Alexandra Della Pia, Gee Youn (Geeny) Kim, Jason Lofters, James Behrmann, Dylon Patel, Simone Kats, Jeffrey Justin Estella, Ivan De Dios, Wanlong Ma, Andrew L. Pecora, Andre H. Goy, Jamie Koprivnikar, James K. McCloskey, Maher Albitar
Summary: This study explored the use of targeted next generation sequencing (NGS) in detecting chromosomal structural abnormalities in patients with myeloid neoplasms. The results showed that liquid biopsy using targeted NGS is reliable in detecting chromosomal structural abnormalities, and there was a high concordance between the NGS data and cytogenetic data.
FRONTIERS IN ONCOLOGY
(2022)
Article
Ophthalmology
An-Ning Chao, Kalpana Rose, Hilary Racher, Filiberto Altomare, Hatem Krema
Summary: Specific cytogenetic abnormalities, including chromosome 8p loss, 1p loss, and monosomy 3, are independent risk factors for distant metastasis in uveal melanoma.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Theodora Mahoukede Zohoncon, Abdou Azaque Zoure, Abdoul Karim Ouattara, Franck Bienvenu Zida, Marius Belemgnegre, Paul Ouedraogo, Jacques Simpore
Summary: This study reveals a high prevalence of chromosomal abnormalities, especially structural abnormalities, among patients suspected of genetic disorders in Ouagadougou, Burkina Faso. These findings highlight the importance of genetic evaluation and counseling services in the region.
MOLECULAR BIOLOGY REPORTS
(2023)
Review
Pediatrics
Melissa Mei Yin Cheung, Tracey W. Tsang, Rochelle Watkins, Catherine Birman, Svetlana Popova, Elizabeth J. Elliott
Summary: This study systematically reviewed the type and prevalence of functional and structural ear abnormalities among children with prenatal alcohol exposure and/or fetal alcohol spectrum disorder (FASD). The findings showed that the highest prevalence of functional ear abnormalities were chronic serous otitis media, abnormal auditory filtering, and unspecified conductive hearing loss, while the highest prevalence of structural ear abnormalities were microtia, railroad track ear, and misplaced ear.
JOURNAL OF PEDIATRICS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Jianfang Liu, Chunjie Wang, Wei Guo, Piaoe Zeng, Yan Liu, Ning Lang, Huishu Yuan
Summary: The radiomics model based on spinal MRI is effective in predicting high-risk cytogenetic abnormalities in patients with multiple myeloma (MM), showing comparable performance with the combined model incorporating basic clinical characteristics. This MRI-based radiomics model may serve as a useful and independent tool for predicting HRCAs in MM patients.
Article
Biochemistry & Molecular Biology
Mohammed El Amine Bechar, Jean-Marie Guyader, Marwa El Bouz, Nathalie Douet-Guilbert, Ayman Al Falou, Marie-Berengere Troadec
Summary: The detection of structural chromosomal abnormalities (SCA) is crucial for the diagnosis, prognosis, and management of genetic diseases and cancers. We propose a highly performing and intelligent method using convolutional neural networks (CNN) with Siamese architecture to assist in the screening of SCA. Our experiments showed that the method achieved high performance in detecting deletions and inversions, even for difficult cases like inv(3).
JOURNAL OF MOLECULAR BIOLOGY
(2023)
Article
Genetics & Heredity
Seher Basaran, Recep Has, Ibrahim Halil Kalelioglu, Tugba Sarac Sivrikoz, Birsen Karaman, Melike Kirgiz, Tahir Dehgan, Tugba Kalayci, Bilge Ozsait Selcuk, Peter Miny, Atil Yuksel
Summary: This study evaluates the efficiency of expanded cfDNA testing for rare chromosome anomalies (RCAs) and provides further evidence that the test efficiency seems to be higher for duplications than for deletions. It also emphasizes the importance of expert ultrasound in identifying pregnancies at increased risk for chromosome anomalies, even in cases with negative cfDNA test results.
Article
Oncology
Andriana Valkama, Sandra Vorimo, Timo A. Kumpula, Hannele Raesaenen, Eeva-Riitta Savolainen, Katri Pylkas, Tuomo Mantere
Summary: The standard-of-care cytogenetic analysis of chronic lymphocytic leukemia (CLL) is currently based on the fluorescence in situ hybridization (FISH) technique, which offers limited genomic information. Recent studies have shown the potential of optical genome mapping (OGM) as a cytogenetic tool for hematological malignancies. In this study, we evaluated the concordance between OGM and standard-of-care FISH in 18 CLL samples. The results were fully concordant, and OGM revealed additional genomic alterations and complex karyotypes that were undetectable by FISH. Based on these findings, OGM could be used as a first-tier cytogenetic test for CLL.
Review
Medical Laboratory Technology
Nikolai Lomov, Elena Zerkalenkova, Svetlana Lebedeva, Vladimir Viushkov, Mikhail A. Rubtsov
Summary: Acute leukemias are often associated with chromosomal translocations, particularly involving the KMT2A/MLL gene. Various genetic and molecular methods, such as karyotyping, FISH, PCR, and high-throughput sequencing, are used for the identification and confirmation of these translocations. These methods play a crucial role in clinical diagnosis and treatment monitoring, as well as in research on disease mechanisms and molecular classification.
CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
(2021)
Review
Obstetrics & Gynecology
Damin Ahn, Jieon Kim, Junyeong Kang, Yun Hak Kim, Kihun Kim
Summary: Several studies have reported on the maternal age-associated risks of congenital anomalies. This study aimed to compare the risk of birth defects in children born to middle-aged mothers, young mothers, and older mothers. The results showed that children born to older mothers had an increased risk of congenital anomalies compared to those born to mothers aged 20-34, while children born to mothers under 20 only had an increased risk of abdominal wall defects.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2022)
Article
Biochemistry & Molecular Biology
Jan Willem Bruggeman, Jan Koster, Ans M. M. van Pelt, Dave Speijer, Geert Hamer
Summary: This article proposes a hypothesis that activating the germline program promotes cancer cell malignancy. The four hallmark processes of the germline, including meiosis, epigenetic plasticity, migration, and metabolic plasticity, enable germ cells and cancer cells to have replicative immortality. Especially, meiotic genes are frequently expressed in cancer, suggesting their potential role in oncogenesis.
Article
Obstetrics & Gynecology
Jennifer A. Wessel, Sarah Hunt, Madelon van Wely, Femke Mol, Rui Wang
Summary: This article reviews the concerns and considerations surrounding the overuse of in vitro fertilization (IVF), as well as the underappreciation of alternatives to IVF in clinical practice and research. It summarizes the current evidence on the effectiveness, safety, and cost-effectiveness of various alternatives to IVF, such as expectant management, intrauterine insemination, tubal flushing, in vitro maturation, and intravaginal culture. The article also discusses the trend of IVF use over the last decade and the roles of different alternatives to IVF in modern reproductive medicine.
FERTILITY AND STERILITY
(2023)
Article
Obstetrics & Gynecology
Krystle Y. Chong, Sarah Solangon, Kurt Barnhart, Pamela Causa-Andrieu, Perrine Capmas, George Condous, Liesl de Waard, James M. N. Duffy, Andrew W. Horne, Maria Memtsa, Femke Mol, Munira Oza, Romina Pesce, Annika Strandell, Madelon van Wely, Janneke van't Hooft, Lan N. Vuong, Jian Zhang, Davor Jurkovic, Ben W. Mol
Summary: This study developed a core outcome set for ectopic pregnancy (EP) to address methodological deficiencies in published randomized controlled trials and systematic reviews. The core outcome set consists of 6 outcomes, including treatment success, resolution time, the number of additional interventions, adverse events, mortality and severe morbidity, and treatment satisfaction.
FERTILITY AND STERILITY
(2023)
Review
Obstetrics & Gynecology
Sarah Annie Solangon, Madelon Van Wely, Norah Van Mello, Ben W. Mol, Jackie A. Ross, Davor Jurkovic
Summary: Ectopic pregnancy is a common health condition affecting 1 in 100 women. Methotrexate (MTX) and expectant management are both viable treatment options for women with mild symptoms and low hCG levels. A systematic review and meta-analysis of randomized controlled trials showed no statistically significant difference in treatment efficacy between MTX and expectant management, suggesting that initial expectant management may be preferred due to fewer side-effects.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2023)
Article
Obstetrics & Gynecology
Noor E. Simons, Annemijn A. de Ruigh, Janneke van't Hooft, Cornelieke S. H. Aarnoudse-Moens, Madelon van Wely, David P. van der Ham, Augustinus S. P. van Teeffelen, Tessa J. Roseboom, Ben W. Mol, Aleid G. Leemhuis, Eva Pajkrt
Summary: Management of late preterm prelabor rupture of membranes between 34+0 and 36+6 weeks' gestation shows similar risks between induction of labor and expectant management. However, children at 2 years of age show more neurodevelopmental delay with expectant management. Long-term outcomes in child development after 2 years are still unknown.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2023)
Editorial Material
Obstetrics & Gynecology
Joanne Aalberts, Madelon van Wely
FERTILITY AND STERILITY
(2023)
Review
Obstetrics & Gynecology
T. R. Zaat, E. B. Kostova, P. Korsen, M. G. Showell, F. Mol, M. van Wely
Summary: Based on a systematic review and meta-analysis, natural cycle frozen embryo transfer (NC-FET) appears to be associated with a lower risk of adverse obstetric and neonatal outcomes compared to artificial cycle frozen embryo transfer (AC-FET). Furthermore, NC-FET with luteal phase support (LPS) may reduce the risk of preterm birth. Therefore, NC-FET should be the preferred treatment for women undergoing frozen embryo transfer. The use of LPS in NC-FET may decrease the risk of preterm birth, but more research is needed to determine its efficacy and safety.
HUMAN REPRODUCTION UPDATE
(2023)
Article
Medicine, General & Internal
D. C. Kieslinger, C. G. Vergouw, L. Ramos, B. Arends, M. hj m Curfs, E. Slappendel, E. H. Kostelijk, M. H. E. C. Pieters, D. Consten, M. O. Verhoeven, D. E. Besselink, F. Broekmans, B. J. Cohlen, J. M. J. Smeenk, S. Mastenbroek, C. H. de Koning, Y. M. van Kasteren, E. Moll, J. van Disseldorp, E. A. Brinkhuis, Ea m Kuijper, W. M. van Baal, H. G. van Weering, P. J. Q. van der Linden, M. H. Gerards, P. M. Bossuyt, M. van Wely, C. B. Lambalk
Summary: Time-lapse monitoring does not improve clinical outcomes compared with routine methods, casting doubts on its widespread application in fertility treatments.
Article
Obstetrics & Gynecology
Jitske Eliveld, Ilias van der Bles, Madelon van Wely, Andreas Meissner, Alexandre T. Soufan, Annemieke C. Heijboer, Sjoerd Repping, Fulco van der Veen, Ans M. M. van Pelt
Summary: This study investigates the risk of hypogonadism in men with obstructive azoospermia, non-obstructive azoospermia (NOA) or Klinefelter syndrome after testicular sperm extraction (TESE). The results show that 36% of men with Klinefelter syndrome, 4% of men with obstructive azoospermia, and 3% of men with NOA required testosterone replacement therapy (TRT). Klinefelter syndrome is strongly associated with the need for TRT, while no association is found for obstructive azoospermia or NOA. Additionally, higher testosterone concentrations before TESE are linked to a lower chance of needing TRT.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Editorial Material
Obstetrics & Gynecology
Madelon van Wely
Summary: Miscarriage is a common occurrence that has a profound psychological impact on individuals and couples. This article provides an overview of sporadic and recurrent miscarriage, discussing their prevalence, psychological impact, genetics, the potential role of uterine natural killer cells, association with infections, and possible interventions.
FERTILITY AND STERILITY
(2023)
Article
Obstetrics & Gynecology
Elena B. Kostova, Jelmer R. Prins, Madelon van Wely
Summary: This manuscript discusses the association between infections and perinatal complications and the increased risk of miscarriage, as well as the availability of prevention or treatment strategies.
FERTILITY AND STERILITY
(2023)
Article
Obstetrics & Gynecology
A. P. van Haaps, J. Wijbers, A. M. F. Schreurs, S. Vlek, J. Tuynman, B. De Bie, A. L. de Vogel, M. van Wely, V Mijatovic
Summary: The low FODMAP diet and endometriosis diet have a positive impact on reducing endometriosis-related pain and improving quality of life. However, further research and guidelines are needed to support these findings.
HUMAN REPRODUCTION
(2023)
Letter
Obstetrics & Gynecology
T. R. Zaat, F. Mol, M. van Wely
HUMAN REPRODUCTION UPDATE
(2023)
Editorial Material
Obstetrics & Gynecology
Madelon van Wely, Julie M. Hastings, Basil Tarlatzis, Arne Sunde
HUMAN REPRODUCTION UPDATE
(2023)
Review
Obstetrics & Gynecology
Janneke A. C. van Baar, Elena B. Kostova, John Allotey, Shakila Thangaratinam, Javier R. Zamora, Mercedes Bonet, Caron Rahn Kim, Lynne M. Mofenson, Heinke Kunst, Asma Khalil, Elisabeth van Leeuwen, Julia Keijzer, Marije Strikwerda, Bethany Clark, Maxime Verschuuren, Arri Coomarasamy, Mariette Goddijn, Madelon van Wely
Summary: This systematic review aims to determine the prevalence of early pregnancy loss in women with SARS-Cov-2 infection and compare the risk to pregnant women without SARS-CoV-2 infection.
HUMAN REPRODUCTION UPDATE
(2023)
Article
Obstetrics & Gynecology
Alice Newman-Sanders, Jackson C. Kirkman-Brown, Meurig T. Gallagher
Summary: This study revealed a significant lack of awareness among young adults in the UK regarding the potential impacts of gym lifestyles and supplementation on male infertility. Men were found to have a concerning lack of concern for their own fertility, with differences in awareness levels between men and women. It was also observed that men were more likely to consider making changes to their behavior if it had a long-term impact on their fertility compared to short-term effects.
REPRODUCTIVE BIOMEDICINE ONLINE
(2024)
Article
Obstetrics & Gynecology
Shachar Reuvenny, Michal Youngster, Almog Luz, Rohi Hourvitz, Ettie Maman, Micha Baum, Ariel Hourvitz
Summary: Using a machine-learning model to determine the optimal trigger days can improve the outcomes of antagonist protocol cycles in freeze-all or fresh transfer cycles, for all age groups. Implementing these models can more accurately predict the number of retrieved oocytes, optimizing physicians' decisions, balancing workloads, and creating more standardized yet patient-specific protocols.
REPRODUCTIVE BIOMEDICINE ONLINE
(2024)
Article
Obstetrics & Gynecology
Chao Chen, Qi Wen, Feng Deng, Rong Li, Ying Wang, Xiumei Zhen, Jing Hang
Summary: This study investigates the proteomic and phosphoproteomic differences in the endometrium of women with recurrent pregnancy loss (RPL) compared to healthy control women during different phases of the menstrual cycle. The results identify differentially expressed proteins and phosphorylated proteins, and highlight the insulin/cyclic nucleotide signalling pathway and AMPK/mTOR signalling pathway as major contributors to the abnormality of RPL endometrium. The findings provide insights into potential proteins associated with the pathogenesis of RPL and contribute to the identification of potential targets for RPL treatment.
REPRODUCTIVE BIOMEDICINE ONLINE
(2024)
Article
Obstetrics & Gynecology
Jaime Guerrero, Juan Carlos Castillo, Jorge Ten, Jose Antonio Ortiz, Belen Lledo, Domingo Orozco, Francisco Quereda, Andrea Bernabeu, Rafael Bernabeu
Summary: The study found no significant differences in clinical outcomes between using oocytes obtained from random-start protocols and those from conventional ovarian stimulation in oocyte donation treatments. Luteal-phase stimulation required longer stimulation and higher FSH consumption.
REPRODUCTIVE BIOMEDICINE ONLINE
(2024)
