Article
Multidisciplinary Sciences
Michelle Z. L. Kee, Ai Ling Teh, Andrew Clappison, Irina Pokhvisneva, Julie L. MacIssac, David T. S. Lin, Katia E. Ramadori, Birit F. P. Broekman, Helen Chen, Mary Lourdes Daniel, Neerja Karnani, Michael S. Kobor, Peter D. Gluckman, Yap Seng Chong, Jonathan Y. Huang, Michael J. Meaney
Summary: This study found an association between prenatal maternal depressive symptoms and inter-individual genome-wide DNA methylation, specifically in mothers carrying female fetuses. It also revealed sex-dependent associations with depression-related genes and signaling pathways, suggesting the potential role of maternal-fetal interactions in intergenerational transmission.
Article
Biochemistry & Molecular Biology
Elisa Garcia, Lidewij Henneman, Janneke T. Gitsels-van der Wal, Linda Martin, Isabel Koopmanschap, Mireille N. Bekker, Danielle R. M. Timmermans
Summary: The study found that while NIPT can improve accuracy in screening, uncertainty about fetal health, lack of treatment for detected disorders, and the ability to obtain information through fetal anomaly scans support the view that NIPT is not an obligation of responsible motherhood. Woman's acceptance of NIPT is considered a free decision based on the information needed to be a good mother for her child and family, and may change as NIPT expands to cover treatable or preventable conditions.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Neurosciences
Megan G. McGill, Irina Pokhvisneva, Andrew S. Clappison, Lisa M. McEwen, Roseriet Beijers, Marieke S. Tollenaar, Hung Pham, Michelle Z. L. Kee, Elika Garg, Euclides J. de Mendonca Filho, Neerja Karnani, Patricia P. Silveira, Michael S. Kobor, Carolina de Weerth, Michael J. Meaney, Kieran J. O'Donnell
Summary: Prenatal maternal anxiety predicts child PedBE epigenetic age acceleration, predominantly in males. PedBE age acceleration predicts increased externalizing symptoms in males in the BIBO cohort.
BIOLOGICAL PSYCHIATRY
(2022)
Article
Multidisciplinary Sciences
Geraldine Damour, Karine Baumer, Helene Legardeur, Diana Hall
Summary: The challenge in paternity testing is to provide an accurate noninvasive assay that can be performed early during pregnancy. The use of novel analytical methods capable of detecting fetal DNA in maternal blood is promising. This study validates the use of deletion/insertion polymorphisms-short tandem repeats (DIP-STR) markers in the first trimester of pregnancies and establishes a statistical framework for evaluating paternity. The results show that a small set of DIP-STR markers is sufficient to determine paternity accurately, offering improvements in terms of cost, marker number, and accuracy compared to similar approaches.
SCIENTIFIC REPORTS
(2023)
Article
Medicine, General & Internal
Seung-Ah Choe, Hyun-Joo Seol, Ji Young Kwon, Chan-Wook Park, Minhyoung Kim, Ji Yeon Lee, Min-A Kim, Han-Sung Hwang, Sunghun Na, Jae-Yoon Shim, Kunwoo Kim, Hyun Mee Ryu
Summary: The Korean Society of Maternal-Fetal Medicine developed the first Korean clinical practice guidelines for prenatal aneuploidy screening and diagnostic testing in 2019, which were adapted from established guidelines in other countries. The guidelines focus on maternal serum screening for fetal aneuploidy and cell-free DNA screening, with recommendations including informing pregnant women of common fetal aneuploidy, providing counseling early in pregnancy, and not recommending cfDNA screening for multiple gestations. The guidelines were reviewed and approved by the Korean Academy of Medical Sciences.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2021)
Article
Medicine, General & Internal
Ji Yeon Lee, Ji Young Kwon, Sunghun Na, Seung Ah Choe, Hyun Joo Seol, Minhyoung Kim, Min A. Kim, Chan Wook Park, Kunwoo Kim, Hyun Mee Ryu, Han Sung Hwang, Jae Yoon Shim
Summary: The first Korean guideline on prenatal aneuploidy screening and diagnostic testing was proposed by the Korean Society of Maternal Fetal Medicine in April 2019. The guideline includes specific recommendations for invasive diagnostic testing, aiming to improve accuracy of detection and reduce risks associated with the procedures.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2021)
Article
Medical Laboratory Technology
Ellis C. Becking, Jasper Linthorst, Simon Patton, Weronika Gutowska-Ding, Rebecca Goodall, Farrah Khawaja, Fiona Morgan, Zandra Deans, Lyn S. Chitty, Mireille N. Bekker, Peter G. Scheffer, Erik A. Sistermans
Summary: The setting of a minimal fetal fraction (FF) threshold as a quality parameter in noninvasive prenatal testing (NIPT) is debated. This study evaluated the variability in reported FFs between providers and laboratories, as well as within a single laboratory. The findings suggest that the current methods for estimating FF are not reliable or consistent.
CLINICAL CHEMISTRY
(2023)
Article
Genetics & Heredity
Hyuk-Jung Kwon, Seonyoung Yun, Joungsu Joo, Dabin Park, Woo-Jung Do, Sunghoon Lee, Min-Seob Lee
Summary: This study investigates the improvement in the accuracy of noninvasive prenatal testing (NIPT) by selecting shorter cfDNA fragments to enrich fetal-derived cfDNA. The size-selection method significantly increases the detection accuracy of NIPT for fetal aneuploidies and reduces the number of false positives caused by maternal chromosomal abnormalities.
PRENATAL DIAGNOSIS
(2023)
Article
Health Care Sciences & Services
Marcin Orzechowski, Cristian Timmermann, Katarzyna Woniak, Oxana Kosenko, Galina Lvovna Mikirtichan, Alexandr Zinovievich Lichtshangof, Florian Steger
Summary: The study explores the opinions and attitudes of gynecologists in Germany, Poland, and Russia on prenatal testing, highlighting challenges such as inadequate resources, information quality, and ethical issues. The connection of prenatal medicine with the politically and socially contentious issue of pregnancy termination is visible in all three countries.Respondents focus on issues such as routine testing ethics in Germany, and fair access to testing in Poland and Russia.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Genetics & Heredity
Jialing Yu, Na Chen, Min Chen, Min Shen, Yeqing Qian, Minyue Dong
Summary: In this study, we report a fetus with tetrasomy 9p, which was identified by non-invasive prenatal testing (NIPT) but without obvious phenotypic manifestations during the first trimester. Karyotyping of amniocytes and chromosome microarray are crucial prenatal diagnostic techniques.
FRONTIERS IN GENETICS
(2022)
Article
Psychology, Developmental
Megan E. Norr, Jasmine L. Hect, Carly J. Lenniger, Martijn Van den Heuvel, Moriah E. Thomason
Summary: This study explores the impact of high maternal prenatal BMI on macrocircuitry in the human fetal brain. The findings suggest that maternal BMI is associated with connectivity between the left anterior insula/inferior frontal gyrus (aIN/IFG) and bilateral prefrontal cortex (PFC), with increased within-hemisphere connectivity and reduced cross-hemisphere connectivity in higher BMI pregnancies.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2021)
Article
Genetics & Heredity
Jia Li, Jia Ju, Qiang Zhao, Weiqiang Liu, Yuying Yuan, Qiang Liu, Lijun Zhou, Yuan Han, Wen Yuan, Yonghua Huang, Yingjun Xie, Zhihua Li, Jingsi Chen, Shuyu Huang, Rufang Chen, Wei Li, Meihua Tan, Danchen Wang, Si Zhou, Jian Zhang, Fanwei Zeng, Nan Yu, Fengxia Su, Min Chen, Yunsheng Ge, Yanming Huang, Xin Jin
Summary: This study developed a novel method to effectively detect maternal cancer in pregnant women with MCA results using NIPT and a random forest classifier. It demonstrated high sensitivity and specificity in identifying maternal cancer, particularly breast cancer, liver cancer, and lymphoma, using a combination of NPCC values, z scores of 22 chromosomes, and PTMs as predictor variables.
FRONTIERS IN GENETICS
(2022)
Article
Cell Biology
Chenming Xu, Jianli Li, Songchang Chen, Xiaoqiang Cai, Ruilin Jing, Xiaomei Qin, Dong Pan, Xin Zhao, Dongyang Ma, Xiufeng Xu, Xiaojun Liu, Can Wang, Bingxin Yang, Lanlan Zhang, Shuyuan Li, Yiyao Chen, Nina Pan, Ping Tang, Jieping Song, Nian Liu, Chen Zhang, Zhiwei Zhang, Xiang Qiu, Weiliang Lu, Chunmei Ying, Xiaotian Li, Congjian Xu, Yanlin Wang, Yanting Wu, He-Feng Huang, Jinglan Zhang
Summary: Current non-invasive prenatal screening methods face challenges in detecting fetus-specific genetic variants. This study developed a new sequencing method that accurately separates fetal genome from maternal background, enabling thorough and accurate delineation of fetal genome and paving the way for next-generation prenatal screening.
Article
Neurosciences
Moriah E. Thomason, Jasmine L. Hect, Rebecca Waller, Paul Curtin
Summary: Maternal prenatal stress is associated with variations in fetal brain functional connectivity, with stronger effects observed in women with better health behaviors, positive interpersonal support, and lower overall stress. Additionally, the differences in neural connectivity due to stress are marginally correlated with younger gestational age at delivery. This study provides the first evidence of how negative affect and stress during pregnancy can impact fetal brain programming.
NEUROPSYCHOPHARMACOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Diego A. Lopez, Kelly S. Otsuka, April C. Apostol, Jasmine Posada, Juan C. Sanchez-Arcila, Kirk D. C. Jensen, Anna E. Beaudin
Summary: This study investigates the fetal hematopoietic response to maternal infection with Toxoplasma gondii. The results show that fetal HSCs respond to infection with changes in proliferation, self-renewal potential, and lineage output. Maternal IFN gamma crosses the fetal-maternal interface and is perceived by fetal HSCs.
Article
Biochemistry & Molecular Biology
Rebecka Pestoff, Charlotta Ingvoldstad, Heather Skirton
EUROPEAN JOURNAL OF HUMAN GENETICS
(2016)
Letter
Biochemistry & Molecular Biology
Marion McAllister, Ramona Moldovan, Milena Paneque, Heather Skirton
EUROPEAN JOURNAL OF HUMAN GENETICS
(2016)
Article
Biochemistry & Molecular Biology
Celine Lewis, Melissa Hill, Heather Skirton, Lyn S. Chitty
EUROPEAN JOURNAL OF HUMAN GENETICS
(2016)
Article
Biochemistry & Molecular Biology
Milena Paneque, Ramona Moldovan, Christophe Cordier, Clara Serra-Juhe, Irene Feroce, Debby Lambert, Inga Bjornevoll, Heather Skirton
EUROPEAN JOURNAL OF HUMAN GENETICS
(2016)
Review
Biochemistry & Molecular Biology
Lea Godino, Daniela Turchetti, Leigh Jackson, Catherine Hennessy, Heather Skirton
EUROPEAN JOURNAL OF HUMAN GENETICS
(2016)
Article
Nursing
Jenny Cunningham, Lesley Goldsmith, Heather Skirton
Article
Nursing
Heather Hopper, Heather Skirton
Article
Nursing
Laura Pisnoli, Anita O'Connor, Lesley Goldsmith, Leigh Jackson, Heather Skirton
Editorial Material
Nursing
Heather Skirton
NURSING & HEALTH SCIENCES
(2017)
Review
Nursing
Suhailah Ali, Heather Skirton, Maria T. Clark, Craig Donaldson
NURSING & HEALTH SCIENCES
(2017)
Article
Oncology
Selina Goodman, Heather Skirton, Leigh Jackson, Ray B. Jones
Summary: The study demonstrates how using a secure website to support information sharing within families at high risk of bowel cancer can result in increased uptake of cancer surveillance, leading to lower morbidity and mortality. Participants welcomed the opportunity to store and share personal information via the website and desired more information to help inform their relatives about the diagnosis.
Article
Genetics & Heredity
Lea Godino, Daniela Turchetti, Leigh Jackson, Catherine Hennessy, Heather Skirton
Summary: Undertaking genetic testing should be a thoughtful choice, especially for young adults who need to consider factors related to their life stage. The study found that young adults may be influenced by others to undergo genetic testing, but genetic counselling can help enhance their autonomy and integration of genetic status into their lives.
JOURNAL OF COMMUNITY GENETICS
(2021)
Review
Genetics & Heredity
C. Ingvoldstad, M. Seven, N. Taris, C. Cordier, M. Paneque, H. Skirton
JOURNAL OF COMMUNITY GENETICS
(2016)
Article
Nursing
Lesley Goldsmith, Heather Skirton
JOURNAL OF RESEARCH IN NURSING
(2015)