Results 1 to 10 of about 22,195,386 (187)

The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly

Taiwanese Journal of Obstetrics and Gynecology, 2019
Objective: To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild ventriculomegaly.
Hong-Lei Duan, Xiang-Yu Zhu, Yu-Jie Zhu, Xing Wu, Guang-Feng Zhao, Wan-Jun Wang, Jie Li   +6 more
exaly   +4 more sources

A Rare Finding of Mosaic 45,XX,der(13;21)(q10;q10)[15]/46,XX,r(13)(p11.2q33) Following Abnormal Prenatal Chromosomal Microarray Testing [PDF]

Case Reports in Genetics
Mosaicism for both a ring chromosome and Robertsonian translocation is a rarely reported cytogenetic phenomenon. We describe a case referred for testing following abnormal noninvasive prenatal screening for trisomy 13.
Katherine M. Haines, Deborah M. Hazard, Billie Carstens, Peter M. Brzeskiewicz, Thomas M. Gilfillan, Hala Nijmeh, Chandra Perez-Gill, Mikayla Stoecker, Farrah Rajabi, Mary M. Haag, Stephen J. Wicks   +10 more
doaj   +2 more sources

Application of chromosomal microarray analysis for prenatal diagnosis in 315 ultrasonically abnormal fetuses [PDF]

Frontiers in Genetics
The purpose of this study was to assess the application value of chromosome microarray analysis (CMA) for prenatal diagnosis of fetuses with ultrasonic abnormalities.
Zhiyuan Zheng, Zhiyuan Zheng, Heming Wu, Heming Wu, Lingna She, Lingna She, Lingna She, Dandan Luo, Dandan Luo, Lifang Lin, Lifang Lin, Wei Guo, Wei Guo, Liubing Lan, Liubing Lan   +14 more
doaj   +2 more sources

Genomic risk profiling in advanced maternal age: a Tamil Nadu prenatal study [PDF]

Frontiers in Medicine
BackgroundAdvanced maternal age (AMA; > = 35 years) is associated with increased fetal chromosomal risk and is an important indication for invasive prenatal diagnosis. This study evaluates karyotyping and chromosomal microarray analysis (CMA) findings
Sujithra Appavu, Sujithra Appavu, Aruni Wilson Santhosh Kumar, Mukinkumar Sonai, Vinoth Appavu   +4 more
doaj   +2 more sources

Chromosomal and genetic anomalies in fetuses with nuchal translucency between 3.0 and 3.4 mm: A systematic review and meta-analysis. [PDF]

Acta Obstet Gynecol Scand
Fetuses with a nuchal translucency between 3.0 and 3.4 mm showed a high rate of chromosomal anomalies and copy number variants, most of which could potentially be detected through cell‐free DNA. Abstract Introduction To report the prevalence of chromosomal anomalies in fetuses with a nuchal translucency (NT) between 3.0 and 3.4 mm and to assess the ...
Carta A, Della Valle L, Rizzo G, Mappa I, Maruotti G, Flacco ME, Manzoli L, Cormio G, Khalil A, Galindo A, D'Antonio F.   +10 more
europepmc   +2 more sources

Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study [PDF]

Frontiers in Pediatrics
BackgroundLimited reports have investigated the genetic etiology of fetuses with digestive system malformations (DSMs). Our initial aim was to describe supplement data of fetal DSMs and further elucidate the genotype-phenotype correlations in fetuses ...
Jianlong Zhuang, Nan Huang, Wenli Chen, Yu'e Chen   +3 more
doaj   +2 more sources

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat. [PDF]

J Clin Lab Anal
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Domínguez-Quezada MG, Rivera H, Figuera LE, Barros-Núñez P, Castrillo JL, Córdova-Fletes C, Aguayo-Orozco TA.   +6 more
europepmc   +2 more sources

Application of chromosomal microarray analysis for fetuses with nasal bone agenesis or hypoplasia [PDF]

Molecular Cytogenetics
Objective To explore the utility of microarray technology in prenatal diagnosis of nasal bone agenesis or hypoplasia. Methods Between July 2018 to October 2023, several cases of abnormal nasal bone development were diagnosed via ultrasound at county and ...
Keqin Jin, Xiayuan Xu, Jun Zhang, Yue Qian, Yanfen Yang, Shuangshuang Shen, Min Hu, Jianfeng Luo, Na Li   +8 more
doaj   +2 more sources

Severity-dependent risk of chromosomal abnormalities in fetuses with short long bones: a 10-year cohort study [PDF]

Human Genomics
Background Short long bones (SLBs) detected prenatally are associated with chromosomal abnormalities; however, risk stratification according to phenotypic severity and associated anomalies remains incompletely defined.
Yanlin Huang, Hongke Ding, Jian Lu, Ting Wang, Xiaomei Shi, Cuiqing Huang, Jing Wu   +6 more
doaj   +2 more sources

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta-analysis. [PDF]

Acta Obstet Gynecol Scand
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Yao J, Wang Y, Li G, Zhang Z, Lv Y, Chen L.   +5 more
europepmc   +2 more sources