Results 221 to 230 of about 113,215 (275)

Impact of socioeconomic status and remoteness of residence on pregnancy outcome in major congenital heart disease: mediation analysis

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective Increased remoteness of residence (RoR) and lower socioeconomic status (SES) negatively impact the rate and gestational age (GA) at the diagnosis of major congenital heart disease (mCHD). We examined the direct and indirect relationships of RoR from a tertiary fetal cardiology center and Chan SES index with the rate of termination of
S. Bennett, L. K. Hornberger, A. Kaur, D. Fruitman, L. G. Eckersley   +4 more
wiley   +1 more source

Implications of uniparental disomy in forensic kinship testing: A case study of paternal isodisomy on chromosome 3

Journal of Forensic Sciences, EarlyView.
Abstract In typical inheritance, a child receives one chromosome of each pair from each parent. In rare cases, however, both chromosomes may be inherited from the same parent, a phenomenon known as uniparental disomy (UPD). In forensic kinship testing, UPD can lead to Mendelian inconsistencies between parent and child, increasing the risk of ...
Hannah Fontanil, Sharlize Pedroza Matute, Thomas Haizel, Sasitaran Iyavoo   +3 more
wiley   +1 more source

Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis. [PDF]

BMC Pregnancy Childbirth
Chen Y, Cai M, Chen M, Pan X, Shen X, Song B, Cai X, Zhou L, Huang H.   +8 more
europepmc   +1 more source

USP44, ZNF454, and GPRC5B ctDNA Methylation Markers in Breast Cancer: Limited Clinical Relevance for Disease Monitoring and Tumor Characteristics

Asia-Pacific Journal of Clinical Oncology, EarlyView.
We selected breast cancer‐specific DNA methylation markers using The Cancer Genome Atlas (TCGA). We analyzed the methylation and expression patterns of candidate genes in breast cancer cell lines, ctDNA, and tissue samples. The relationship between ctDNA methylation markers and the clinicopathological features of breast cancer patients was investigated.
Young Ju Jeong, Chang‐Ho Jeon, Hoon Kyu Oh, Jeong Kyu Kim, Chun‐Seok Yang, Na‐Rang Lee, Doyeon Kim   +6 more
wiley   +1 more source

Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping. [PDF]

J Clin Lab Anal
Xu C, Xiong Y, Wang D, Zhang S, Wu X, Li M.   +5 more
europepmc   +1 more source

Prenatal diagnosis and perinatal outcomes of fetuses with congenital duodenal obstruction: A nine‐year retrospective study from China

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
A retrospective study of 98 fetuses with congenital duodenal obstruction (CDO) revealed an overall genetic abnormality rate of 20.4%, with trisomy 21 being the predominant chromosomal anomaly. Comprehensive prenatal diagnostic testing is recommended for fetuses with suspected congenital duodenal obstruction, as the genetic findings exert substantial ...
Jianqin Lu, Fang Fu, Fei Guo, Hang Zhou, Ruibin Huang, Huanyi Chen, Chunling Ma, Liyuan Liu, Xiangyi Jing, Simin Yuan, Xiang Zhou, Qiuxia Yu, Manqiu Yang, Jin Han, Dongzhi Li, Ru Li, Can Liao   +16 more
wiley   +1 more source

Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals. [PDF]

Mol Syndromol
Carrasco Salas P, Granell Escobar R, Serrano Mira A, Pérez Saldaña A, Cosculluela Vidal M, Garrido C, Vázquez Rico I.   +6 more
europepmc   +1 more source

The diagnostic performance of the basic versus the detailed telomere Flow FISH test in young patients with aplastic anaemia

British Journal of Haematology, EarlyView.
Summary Identifying telomere biology disorders (TBDs) in patients with aplastic anaemia (AA) is essential for guiding appropriate care. Telomere length (TL) measurement by flow cytometry with fluorescence in situ hybridization supports diagnosis, but the real‐world performance of the basic test (lymphocytes and granulocytes) versus the detailed test ...
Nicholas F. DeCleene, Duc T. Nguyen, Susan E. Kirk, Hannah L. Helber, Ghadir S. Sasa, Alison A. Bertuch   +5 more
wiley   +1 more source

Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis. [PDF]

Ann Med
Shi X, Huang Y, Ding H, Zhao L, He W, Wu J.   +5 more
europepmc   +1 more source

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses. [PDF]

BMC Med Genomics
Deng Y, Zeng L, Wu Z, Wang J, Ye M, Chen C, Wei P, Wang D, Deng G, Zhu S.   +9 more
europepmc   +1 more source