Article
Genetics & Heredity
Pascale Kleinfinger, Armelle Luscan, Lea Descourvieres, Daniela Buzas, Aicha Boughalem, Stephane Serero, Mylene Valduga, Detlef Trost, Jean-Marc Costa, Alexandre J. Vivanti, Laurence Lohmann
Summary: This study describes the experience of using noninvasive prenatal testing (NIPT) in a large population of vanishing twin (VT) pregnancies, and finds that it is an effective screening method for trisomy 21 in surviving fetuses. However, caution should be exercised when interpreting positive results for trisomies 18 and 13, and ultrasound monitoring is preferable over invasive diagnostic testing.
Article
Chemistry, Multidisciplinary
Yu-An Kuo, Cheulhee Jung, Yu-An Chen, Hung-Che Kuo, Oliver S. Zhao, Trung D. Nguyen, James R. Rybarski, Soonwoo Hong, Yuan- Chen, Dennis C. Wylie, John A. Hawkins, Jada N. Walker, Samuel W. J. Shields, Jennifer S. Brodbelt, Jeffrey T. Petty, Ilya J. Finkelstein, Hsin-Chih Yeh
Summary: The study revealed that the nucleobases at positions 7-12 of the 18-nucleotide-long activator are critical to creating bright NCBs, while positions 4-6 and 2-4 are hotspots to generate yellow-orange and red POTs.
ADVANCED MATERIALS
(2022)
Article
Biotechnology & Applied Microbiology
Lei Gao, Jian Zhang, Xiaoju Ran, Xue Jia, Yiyi Xing, Tianyi Dai, Wei Song, Ze Wu, Wei Sun, Dan Shan
Summary: The study identified over 50 differentially expressed proteins in the urine of Trisomy 21 patients, most of which were associated with embryonic development. TIMP2 and LAMP2 were selected as potential urinary protein biomarkers for Trisomy 21. The combination of TIMP2 and LAMP2 showed promise in differentiating Trisomy 21 fetuses from healthy controls with a sensitivity of 74%, a specificity of 82%, and an AUC value of 0.82.
OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY
(2021)
Article
Biochemical Research Methods
James Gooch, Sireethorn Tungsirisurp, Hayley Costanzo, Richard Napier, Nunzianda Frascione
Summary: The study selected ssDNA aptamers against human sperm cells using Cell-SELEX and massively parallel sequencing technologies, revealing promising aptamer candidates that selectively bind sperm cells. These aptamers have the potential to increase the efficiency of sexual offence investigations by facilitating sperm detection.
ANALYTICAL AND BIOANALYTICAL CHEMISTRY
(2021)
Review
Endocrinology & Metabolism
Aideen M. McInerney-Leo, Emma L. Duncan
Summary: There have been two major eras in gene discovery history, from linkage analysis to massively parallel sequencing (MPS). MPS has greatly accelerated the identification of disease genes, reducing the time needed to determine disease genes from years to weeks.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Genetics & Heredity
Xuefeng Shen, Ran Li, Haixia Li, Yu Gao, Hui Chen, Ning Qu, Dan Peng, Riga Wu, Hongyu Sun
Summary: The study utilized cell-free fetal DNA from maternal plasma to perform noninvasive prenatal paternity testing using a combination of SNP and STR markers, showing promising results for future applications.
Article
Medicine, General & Internal
Carl P. Weiner, Mark L. Weiss, Helen Zhou, Argyro Syngelaki, Kypros H. Nicolaides, Yafeng Dong
Summary: The study suggests that maternal plasma RNA screening, tested by qRT-PCR and classified by machine learning, may accurately predict prenatal trisomy 21 (T21) at a lower cost than plasma DNA, providing potential for universal screening.
Review
Genetics & Heredity
Erin M. Gorden, Kimberly Sturk-Andreaggi, Charla Marshall
Summary: Hybridization capture technology has gained attention in the forensic field for its ability to process degraded DNA fragments and enrich mitochondrial DNA or nuclear genome polymorphisms through massively parallel sequencing. As the technology advances, hybridization capture becomes increasingly important in analyzing DNA from aged and degraded remains.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2021)
Article
Oncology
Soula Danopoulos, Soumyaroop Bhattacharya, Gail Deutsch, Lina R. Nih, Chris Slaunwhite, Thomas J. Mariani, Denise Al Alam
Summary: This study identifies prenatal lung abnormalities in individuals with Down syndrome (DS), characterized by histopathological abnormalities, reduced cell proliferation, and dysregulated gene expression. These findings contribute to a better understanding of the pathogenesis of lung disease in DS patients.
JOURNAL OF PATHOLOGY
(2021)
Review
Chemistry, Multidisciplinary
Junyun Cheng, Gaole Lin, Tianhao Wang, Yunzhu Wang, Wenbo Guo, Jie Liao, Penghui Yang, Jie Chen, Xin Shao, Xiaoyan Lu, Ling Zhu, Yi Wang, Xiaohui Fan
Summary: CRISPR-based genetic screening is a powerful approach for unbiased functional genomics research. Single-cell CRISPR screening techniques allow the analysis of regulatory networks in complex biological systems at unprecedented resolution. These methods involve perturbing cells en masse using a pooled CRISPR library and high-content phenotyping.
Article
Obstetrics & Gynecology
Songchang Chen, Xuyang Yin, Sijia Zhang, Jun Xia, Ping Liu, Pingyuan Xie, Huijuan Yan, Xinming Liang, Junyu Zhang, Yiyao Chen, Hongjun Fei, Lanlan Zhang, Yuting Hu, Hui Jiang, Ge Lin, Fang Chen, Chenming Xu
Summary: WGS offers a cost-effective and reliable approach for genome-wide haplotyping and PGT for monogenic disorders, aneuploidy, and structural rearrangements without the need for additional family members, showing 100% concordance with traditional PGT methods.
HUMAN REPRODUCTION
(2021)
Article
Medicine, General & Internal
Angelika Buczynska, Iwona Sidorkiewicz, Slawomir Lawicki, Adam Jacek Kretowski, Monika Zbucka-Kretowska
Summary: The study found elevated levels of DNA/RNA oxidative stress damage products and asprosin, as well as decreased levels of vitamin D and A1AT in pregnancies with trisomy 21. Plasma asprosin demonstrated the highest screening utility for T21 prenatal screening.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, Research & Experimental
Yeqing Qian, Yongfeng Liu, Kai Yan, Yanfei Xu, Yixi Sun, Xiaoyang Gao, Na Chen, Pengzhen Jin, Lidong Zeng, Lei Sun, Qin Yan, Minyue Dong
Summary: Amplification biases caused by next-generation sequencing (NGS) for noninvasive prenatal screening (NIPS) can be reduced using single-molecule sequencing (SMS) without PCR. The performance of SMS-based NIPS was evaluated by screening for common fetal aneuploidies in 477 pregnant women. SMS achieved a sensitivity of 100% for trisomy 13 (T13), trisomy 18 (T18), and trisomy 21 (T21). Compared to NGS, SMS had less GC bias, improved distinction between T21 or T18 and euploidies, and better diagnostic performance.
LABORATORY INVESTIGATION
(2023)
Article
Medicine, General & Internal
Da Kyung Hong, Ji Eun Park, Kyung Min Kang, Sung Han Shim, So Hyun Shim, You Jung Han, Hee Young Cho, Dong Hyun Cha
Summary: Noninvasive prenatal testing (NIPT) can detect rare autosomal trisomies (RATs) other than common aneuploidies. However, conventional karyotyping is insufficient for evaluating diploid fetuses with uniparental disomy (UPD) due to trisomy rescue. This study aims to describe the need for additional prenatal diagnostic testing for confirming UPD in fetuses diagnosed with RATs via NIPT and its clinical implications.
Article
Microbiology
Wataru Aoki, Masato Kogawa, Shuhei Matsuda, Keisuke Matsubara, Shintaro Hirata, Yohei Nishikawa, Masahito Hosokawa, Haruko Takeyama, Toru Matoh, Mitsuyoshi Ueda
Summary: This study developed a pipeline to analyze the genomic diversity of the rice rhizosphere microbiome at single-cell resolution. By isolating microbial cells from paddy soil and determining their genomic sequences using massively parallel whole-genome amplification, the researchers obtained a large number of genomic sequences that provided insights into microbial functions in the paddy ecosystem. This approach offers a promising platform for gaining novel insights into the roles of microbes in the rice rhizomicrobiome and developing microbial technologies for improved and sustainable rice production.
FRONTIERS IN MICROBIOLOGY
(2022)
Article
Obstetrics & Gynecology
Anna Kajdy, Dorota Sys, Artur Pokropek, Steven W. Shaw, Tung-Yao Chang, Pavel Calda, Ganesh Acharya, Maya Ben-Zion, Tal Biron-Shental, Dariusz Borowski, Bartosz Czuba, Adolfo Etchegaray, Stepan Feduniw, Rosario Garcia-Mandujano, Monica Garcia Santacruz, Maria M. Gil, Sonia Hassan, Sebastian Kwiatkowski, Arancha Martin-Arias, Raigam Jafet Martinez-Portilla, Federico Prefumo, Michal Rabijewski, Laurent J. Salomon, Heidi Tiller, Stefan Verlohren, Hian Yan Voon, Omar Fernando Yanque-Robles, Soon Leong Yong, Liona C. Poon
Summary: This study examines risk factors for anxiety and depression among pregnant women during the COVID-19 pandemic. The results indicate that pregnant women in high-income economies experience higher levels of anxiety and depression. Factors such as the need for psychiatric treatment before pregnancy, restrictions in social distancing and access to leisure activities, pregnancy-related complications, fear of adverse outcomes in children related to COVID-19, and financial burden are associated with increased risk of anxiety and depression during pregnancy.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2023)
Review
Obstetrics & Gynecology
Emily R. Smith, Erin Oakley, Gargi Wable Grandner, Gordon Rukundo, Fouzia Farooq, Kacey Ferguson, Sasha Baumann, Kristina Maria Adams Waldorf, Yalda Afshar, Mia Ahlberg, Homa Ahmadzia, Victor Akelo, Grace Aldrovandi, Elisa Bevilacqua, Nabal Bracero, Justin S. Brandt, Natalie Broutet, Jorge Carrillo, Jeanne Conry, Erich Cosmi, Fatima Crispi, Francesca Crovetto, Maria del Mar Gil, Camille Delgado-Lopez, Hema Divakar, Amanda J. Driscoll, Guillaume Favre, Irene Fernandez Buhigas, Valerie Flaherman, Christopher Gale, Christine L. Godwin, Sami Gottlieb, Eduard Gratacos, Siran He, Olivia Hernandez, Stephanie Jones, Sheetal Joshi, Erkan Kalafat, Sammy Khagayi, Marian Knight, Karen L. Kotloff, Antonio Lanzone, Valentina Laurita Longo, Kirsty Le Doare, Christoph Lees, Ethan Litman, Erica M. Lokken, Shabir A. Madhi, Laura A. Magee, Raigam Jafet Martinez-Portilla, Torri D. Metz, Emily S. Miller, Deborah Money, Sakita Moungmaithong, Edward Mullins, Jean B. Nachega, Marta C. Nunes, Dickens Onyango, Alice Panchaud, Liona C. Poon, Daniel Raiten, Lesley Regan, Daljit Sahota, Allie Sakowicz, Jose Sanin-Blair, Olof Stephansson, Marleen Temmerman, Anna Thorson, Soe Soe Thwin, Beth A. Tippett Barr, Jorge E. Tolosa, Niyazi Tug, Miguel Valencia-Prado, Silvia Visentin, Peter von Dadelszen, Clare Whitehead, Mollie Wood, Huixia Yang, Rebecca Zavala, James M. Tielsch
Summary: This sequential, prospective meta-analysis aimed to identify risk factors among pregnant and postpartum women with COVID-19 for adverse outcomes related to disease severity, maternal morbidities, neonatal mortality and morbidity, and adverse birth outcomes. Data from 21 participating studies were included, and risk factors and outcomes were analyzed. The study found that women with comorbidities, HIV infection, prepregnancy underweight, and anemia were at increased risk for severe COVID-19-related outcomes and adverse birth outcomes.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2023)
Article
Acoustics
A. Arechvo, D. A. Nikolaidi, M. M. Gil, V. Rolle, A. Syngelaki, R. Akolekar, K. H. Nicolaides
Summary: This study aimed to examine the relationship between the English index of multiple deprivation (IMD) and the incidence of stillbirth and evaluate whether IMD contributes to the prediction of stillbirth provided by maternal demographic characteristics and elements of medical history. The study found that women living in the most deprived areas in South East England had higher rates of stillbirth, particularly placental dysfunction-related stillbirth. However, including IMD in stillbirth screening did not improve the prediction provided by race, other maternal characteristics, and elements of medical history.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Public, Environmental & Occupational Health
Emily R. Smith, Erin Oakley, Gargi Wable Grandner, Kacey Ferguson, Fouzia Farooq, Yalda Afshar, Mia Ahlberg, Homa Ahmadzia, Victor Akelo, Grace Aldrovandi, Beth A. Tippett Barr, Elisa Bevilacqua, Justin S. Brandt, Nathalie Broutet, Irene Fernandez Buhigas, Jorge Carrillo, Rebecca Clifton, Jeanne Conry, Erich Cosmi, Fatima Crispi, Francesca Crovetto, Camille Delgado-Lopez, Hema Divakar, Amanda J. Driscoll, Guillaume Favre, Valerie J. Flaherman, Chris Gale, Maria M. Gil, Sami L. Gottlieb, Eduard Gratacos, Olivia Hernandez, Stephanie Jones, Erkan Kalafat, Sammy Khagayi, Marian Knight, Karen Kotloff, Antonio Lanzone, Kirsty Le Doare, Christoph Lees, Ethan Litman, Erica M. Lokken, Valentina Laurita Longo, Shabir A. Madhi, Laura A. Magee, Raigam Jafet Martinez-Portilla, Elizabeth M. McClure, Tori D. Metz, Emily S. Miller, Deborah Money, Sakita Moungmaithong, Edward Mullins, Jean B. Nachega, Marta C. Nunes, Dickens Onyango, Alice Panchaud, Liona C. Poon, Daniel Raiten, Lesley Regan, Gordon Rukundo, Daljit Sahota, Allie Sakowicz, Jose Sanin-Blair, Jonas Soderling, Olof Stephansson, Marleen Temmerman, Anna Thorson, Jorge E. Tolosa, Julia Townson, Miguel Valencia-Prado, Silvia Visentin, Peter von Dadelszen, Kristina Adams Waldorf, Clare Whitehead, Murat Yassa, Jim M. Tielsch
Summary: Despite heterogeneity in study design and quality, a sequential, prospective meta-analysis found that SARS-CoV-2 infection during pregnancy increases the risk of maternal mortality, severe maternal morbidity, and neonatal morbidity. However, there is no association with stillbirth or intrauterine growth restriction. The findings highlight the importance of preventing and managing SARS-CoV-2 infection in pregnant women. Overall, the study is rated 8 out of 10 in terms of importance.
Article
Obstetrics & Gynecology
Marcos Javier Cuerva, Elena Rodriguez, Marta Perez De Aguado, Maria del Mar Gil, Valeria Rolle, Francisco Lopez, Jose Luis Bartha
Summary: The aim of this study was to assess whether intrapartum ultrasound (ITU) measurements in maternal lateral posture are comparable to ITU measurements in semi-recumbent position. The results showed that the angle of progression (AOP) and head-perineum distance (HPD) were lower in the lateral posture compared to semi-recumbent position, while they were higher with contractions. Therefore, monitoring the second stage of labor with ITU in lateral maternal posture is feasible.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2023)
Article
Oncology
Ignacio Zapardiel, Myriam Gracia Segovia, Ronalds Macuks, Rosanna Mancari, Patriciu Achimas-Cadariu, Giacomo Corrado, Arnoldas Bartusevicius, Vladyslav Sukhin, Juan C. Muruzabal, Pluvio J. Coronado Martin, Barbara Gardella, Jurgen M. Piek, Nicole Concin, Clemente Arab, Dimitrios Papatheodorou, Stephan Polterauer, Sara Iacoponi, Teresa Nieto, Martha C. Lopez-Sanclemente, Hanna Trukhan, Maria M. Gil, Irina Bakinovskaya, Alena Dalamanava, Marc Cucurull, Dzmitry Rovski, Laura Baquedano, Luis Chiva, Marcin Mardas, Siarhei Anatolievich Mavrichev, Jaroslav Klat, Carlos A. Lopez de la Manzanara, Yusuf Yildirim, SARCUT Study Grp
Summary: This retrospective study analyzed 683 patients with uterine sarcoma to identify and evaluate the impact of different prognostic factors on overall survival and disease-free survival. The results showed variations in 5-year overall survival and disease-free survival rates among different subtypes of uterine sarcoma. The presence of residual disease after surgery was identified as the most significant factor affecting overall survival.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2023)
Article
Obstetrics & Gynecology
Irene Fernandez-Buhigas, Aranzazu Martin Arias, Marina Vargas-Terrones, Maia Brik, Valeria Rolle, Ruben Barakat, Maria D. Munoz-Gonzalez, Ignacio Refoyo, Maria M. Gil, Belen Santacruz
Summary: This study aimed to analyze the longitudinal effect of a supervised moderate physical exercise program during pregnancy on uteroplacental and fetal Doppler parameters. The results showed that a regular supervised moderate exercise program during pregnancy does not deteriorate fetal or maternal ultrasound Doppler parameters.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2023)
Article
Multidisciplinary Sciences
Yu Zhao, Yingzhe Ding, Liangqiang He, Qin Zhou, Xiaona Chen, Yuying Li, Maria Vittoria Alfonsi, Zhenguo Wu, Hao Sun, Huating Wang
Summary: This study comprehensively maps the reorganization of the three-dimensional genome in skeletal muscle stem cells, revealing its importance in cell activation and aging. It also identifies key factors and elements involved in chromatin organization and gene expression.
Article
Obstetrics & Gynecology
Ana M. Fidalgo, Raquel Miguel, Irene Fernandez-Buhigas, Asuncion Aguado, Marcos J. Cuerva, Elisa Corrales, Valeria Rolle, Belen Santacruz, Maria M. Gil, Liona C. Poon
Summary: After appropriate training, attending midwives and obstetricians have a level of agreement in ultrasound measurements to evaluate fetal head position and progress of labor.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2023)
Article
Genetics & Heredity
Stephanie C. Y. Yu, L. Y. Lois Choy, Y. M. Dennis Lo
Summary: Liquid biopsy using cell-free DNA (cfDNA) has gained global interest as a molecular diagnostic tool. Recent studies have discovered long cfDNA in the plasma of pregnant women and cancer patients, opening up a new avenue of long cfDNA-based liquid biopsy. This review summarizes the current knowledge in this nascent field of long cfDNA analysis, focusing on its fragmentomic and epigenetic features. Long-read sequencing enables single-molecule methylation analysis, which has promising clinical potential in prenatal and cancer testing. The limitations hindering the immediate clinical applications of long cfDNA analysis and the efforts to address them are also discussed. With concerted efforts, long cfDNA analysis is expected to contribute to the expanding armamentarium of liquid biopsy.
MOLECULAR DIAGNOSIS & THERAPY
(2023)
Article
Multidisciplinary Sciences
Suyang Zhang, Feng Yang, Yile Huang, Liangqiang He, Yuying Li, Yi Ching Esther Wan, Yingzhe Ding, Kui Ming Chan, Ting Xie, Hao Sun, Huating Wang
Summary: This study reveals the role of ATF3 in protecting skeletal muscle stem cells from precocious activation, and demonstrates that ATF3 activates the transcription of Histone 2B genes to achieve this function.
NATURE COMMUNICATIONS
(2023)
Correction
Multidisciplinary Sciences
Suyang Zhang, Feng Yang, Yile Huang, Liangqiang He, Yuying Li, Yi Ching Esther Wan, Yingzhe Ding, Kui Ming Chan, Ting Xie, Hao Sun, Huating Wang
NATURE COMMUNICATIONS
(2023)
Article
Obstetrics & Gynecology
Francisca Sonia Molina, Laura Pardo, Maria D. Munoz, Amaia Aiartzaguena, Amelia Valladolid, Jose E. Blanco, Jorge Burgos, MariaMar Gil
Summary: This study evaluated the reproducibility and usability of a novel medical device, the Fine Birth, for accurately diagnosing threatened preterm labor through objective quantification of cervical consistency in pregnant women. The results showed good intraobserver reproducibility and excellent interobserver reproducibility after adding a lateral microcamera and providing training.
AMERICAN JOURNAL OF OBSTETRICS & GYNECOLOGY MFM
(2023)
Review
Obstetrics & Gynecology
Piya Chaemsaithong, Maria M. Gil, Noppadol Chaiyasit, Diana Cuenca-Gomez, Walter Plasencia, Valeria Rolle, Liona C. Poon
Summary: This study aimed to assess the diagnostic accuracy of placental growth factor and placental growth factor-based models in predicting the development of preeclampsia in asymptomatic women. The findings suggest that placental growth factor combined with maternal factors has the highest predictive performance for early preeclampsia, while placental growth factor-based models perform similarly to soluble fms-like tyrosine kinase-1-placental growth factor ratio for any-onset preeclampsia in the third trimester. Standardized research using consistent models is needed to accurately predict preeclampsia.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2023)
Article
Medicine, General & Internal
Raquel Martin-Alonso, Valeria Rolle, Ranjit Akolekar, Catalina de Paco Matallana, Irene Fernandez-Buhigas, Maria Isabel Sanchez-Camps, Tara Giacchino, Miguel Rodriguez-Fernandez, Jose Eliseo Blanco-Carnero, Belen Santacruz, Maria M. Gil
Summary: In late-term uncomplicated singleton pregnancies, the cerebroplacental ratio (CPR) has shown poor predictive capacity for adverse perinatal outcomes.
MEDICINA-LITHUANIA
(2023)