GSE237372 chromatin 3D structure in human donor chorion cells
Series Type : OtherOrganism :Trisomy is the presence of one extra copy of an entire chromosome or its part in a cell nucleus. In humans, autosomal trisomies are associated with severe developmental abnormalities leading to embryonic lethality, miscarriage or pronounced deviations of various organs and systems at birth. Trisomies are characterized by alterations in gene expression level not exclusively on the trisomic chromosome, but throughout the genome. Here, we applied high-throughput chromo-some conformation capture technique (Hi-C) to study chromatin 3D structure in human donor chorion cells carrying additional chromo...
Source: GEO: Gene Expression Omnibus - December 8, 2023 Category: Genetics & Stem Cells Tags: Other Source Type: research
Artificial Intelligence for Prenatal Chromosome Analysis
The objective of the study is to examine the utilization and effectiveness of novel computational methodologies, such as "machine learning (ML)", "deep learning (DL)", and data analysis, in enhancing the detection rates and accuracy of these prenatal conditions. The contribution of the article lies in its comprehensive examination of advancements in "Non-Invasive Prenatal Testing (NIPT)", prenatal screening, genomics, and medical imaging. It highlights the potential of these techniques for prenatal diagnosis and the contributions of ML and DL to these advancements. It highlights the application of ensemble models and trans...
Source: International Journal of Clinical Chemistry - November 25, 2023 Category: Chemistry Authors: Kavitha Boddupally Esther Rani Thuraka Source Type: research
Artificial Intelligence for Prenatal Chromosome Analysis
The objective of the study is to examine the utilization and effectiveness of novel computational methodologies, such as "machine learning (ML)", "deep learning (DL)", and data analysis, in enhancing the detection rates and accuracy of these prenatal conditions. The contribution of the article lies in its comprehensive examination of advancements in "Non-Invasive Prenatal Testing (NIPT)", prenatal screening, genomics, and medical imaging. It highlights the potential of these techniques for prenatal diagnosis and the contributions of ML and DL to these advancements. It highlights the application of ensemble models and trans...
Source: International Journal of Clinical Chemistry - November 25, 2023 Category: Chemistry Authors: Kavitha Boddupally Esther Rani Thuraka Source Type: research
Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017
ConclusionThis study provides insight into the accurate risk of fetal aneuploidies that pregnant women of advanced ages encounter. (Source: Acta Obstetricia et Gynecologica Scandinavica)
Source: Acta Obstetricia et Gynecologica Scandinavica - November 21, 2023 Category: OBGYN Authors: Line Elmerdahl Frederiksen,
Sofie Møller Ølgaard,
Laura Roos,
Olav Bjørn Petersen,
Line Rode,
Tanja Hartwig,
Charlotte Kvist Ekelund,
the Danish Central Cytogenetics Registry Study Group,
Ida Vogel Tags: ORIGINAL RESEARCH ARTICLE Source Type: research
Prenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin
In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth retardation at 21-22 weeks of gestation and in present pregnancy, the quadruple marker screen test had suggested a high risk for Trisomy 18 with the risk >1:50. The study was performed on the amniotic fluid and peripheral blood samples received at the clinical cytogenetics department. The interphase FISH and conventional karyotype methods were followed. The prenatal diagnosis usi...
Source: Molecular Medicine - November 9, 2023 Category: Molecular Biology Authors: Ajinkya Jadhav Yamini Jadhav Vidya Bhairi Rukaiya Ansari Premkumar Torane Krutika Patil Source Type: research
Prenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin
In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth retardation at 21-22 weeks of gestation and in present pregnancy, the quadruple marker screen test had suggested a high risk for Trisomy 18 with the risk >1:50. The study was performed on the amniotic fluid and peripheral blood samples received at the clinical cytogenetics department. The interphase FISH and conventional karyotype methods were followed. The prenatal diagnosis usi...
Source: Molecular Medicine - November 9, 2023 Category: Molecular Biology Authors: Ajinkya Jadhav Yamini Jadhav Vidya Bhairi Rukaiya Ansari Premkumar Torane Krutika Patil Source Type: research
Major Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database
CONCLUSION: The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.PMID:37821084 | DOI:10.3346/jkms.2023.38.e304 (Source: Journal of Korean Medical Science)
Source: Journal of Korean Medical Science - October 11, 2023 Category: Biomedical Science Authors: Jin A Lee Soon Min Lee Sung-Hoon Chung Jang Hoon Lee Jae Won Shim Jae Woo Lim Chang-Ryul Kim Yun Sil Chang Source Type: research
Major Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database
CONCLUSION: The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.PMID:37821084 | PMC:PMC10562182 | DOI:10.3346/jkms.2023.38.e304 (Source: J Korean Med Sci)
Source: J Korean Med Sci - October 11, 2023 Category: General Medicine Authors: Jin A Lee Soon Min Lee Sung-Hoon Chung Jang Hoon Lee Jae Won Shim Jae Woo Lim Chang-Ryul Kim Yun Sil Chang Source Type: research
Major Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database
CONCLUSION: The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.PMID:37821084 | PMC:PMC10562182 | DOI:10.3346/jkms.2023.38.e304 (Source: Journal of Korean Medical Science)
Source: Journal of Korean Medical Science - October 11, 2023 Category: Biomedical Science Authors: Jin A Lee Soon Min Lee Sung-Hoon Chung Jang Hoon Lee Jae Won Shim Jae Woo Lim Chang-Ryul Kim Yun Sil Chang Source Type: research
Major Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database
CONCLUSION: The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.PMID:37821084 | PMC:PMC10562182 | DOI:10.3346/jkms.2023.38.e304 (Source: J Korean Med Sci)
Source: J Korean Med Sci - October 11, 2023 Category: General Medicine Authors: Jin A Lee Soon Min Lee Sung-Hoon Chung Jang Hoon Lee Jae Won Shim Jae Woo Lim Chang-Ryul Kim Yun Sil Chang Source Type: research
Major Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database
CONCLUSION: The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.PMID:37821084 | PMC:PMC10562182 | DOI:10.3346/jkms.2023.38.e304 (Source: Journal of Korean Medical Science)
Source: Journal of Korean Medical Science - October 11, 2023 Category: Biomedical Science Authors: Jin A Lee Soon Min Lee Sung-Hoon Chung Jang Hoon Lee Jae Won Shim Jae Woo Lim Chang-Ryul Kim Yun Sil Chang Source Type: research
Major Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database
CONCLUSION: The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.PMID:37821084 | PMC:PMC10562182 | DOI:10.3346/jkms.2023.38.e304 (Source: J Korean Med Sci)
Source: J Korean Med Sci - October 11, 2023 Category: General Medicine Authors: Jin A Lee Soon Min Lee Sung-Hoon Chung Jang Hoon Lee Jae Won Shim Jae Woo Lim Chang-Ryul Kim Yun Sil Chang Source Type: research
Major Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database
CONCLUSION: The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.PMID:37821084 | PMC:PMC10562182 | DOI:10.3346/jkms.2023.38.e304 (Source: Journal of Korean Medical Science)
Source: Journal of Korean Medical Science - October 11, 2023 Category: Biomedical Science Authors: Jin A Lee Soon Min Lee Sung-Hoon Chung Jang Hoon Lee Jae Won Shim Jae Woo Lim Chang-Ryul Kim Yun Sil Chang Source Type: research
Major Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database
CONCLUSION: The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.PMID:37821084 | PMC:PMC10562182 | DOI:10.3346/jkms.2023.38.e304 (Source: J Korean Med Sci)
Source: J Korean Med Sci - October 11, 2023 Category: General Medicine Authors: Jin A Lee Soon Min Lee Sung-Hoon Chung Jang Hoon Lee Jae Won Shim Jae Woo Lim Chang-Ryul Kim Yun Sil Chang Source Type: research
Major Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database
CONCLUSION: The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.PMID:37821084 | PMC:PMC10562182 | DOI:10.3346/jkms.2023.38.e304 (Source: Journal of Korean Medical Science)
Source: Journal of Korean Medical Science - October 11, 2023 Category: Biomedical Science Authors: Jin A Lee Soon Min Lee Sung-Hoon Chung Jang Hoon Lee Jae Won Shim Jae Woo Lim Chang-Ryul Kim Yun Sil Chang Source Type: research
