Results 241 to 250 of about 22,467,747 (285)

Diagnostic accuracy of cell-free DNA-based non-invasive prenatal testing for fetal aneuploidies: a systematic review. [PDF]

Front Genet
Alhajlah S.
europepmc   +1 more source

Functional and clinical evidence for two novel heterozygous <i>BUB1B</i> variants and their value in precision genetic counseling for recurrent pregnancy loss. [PDF]

Front Endocrinol (Lausanne)
Wei TY, Kang MX, Zhang GH, Zhang J, Liu JE, Ma J, Tian YP, Hu HY.   +7 more
europepmc   +1 more source

A fetus with paternal uniparental isodisomy of chromosome 3: genetic analysis and prenatal diagnosis following a positive NIPS with IUGR. [PDF]

Mol Cytogenet
Zhang F, Ma S, Wang Y, Men S, Zhang R, Yin T.   +5 more
europepmc   +1 more source

Genetic and Epigenetic Mechanisms Underlying Phenotypic Discordance in Monochorionic Monozygotic Twins: A Systematic Review. [PDF]

Genes (Basel)
Colacurci D, Maruotti GM, Saccone G, D'Agostino AM, De Santis MV, Riccardi M, Martirani M, Guida M, Sarno L.   +8 more
europepmc   +1 more source

Clinical and genomic characterization of corpus callosum abnormalities (CCA) in 107 Tunisian patients using a stepwise diagnostic approach. [PDF]

Front Genet
Khadija B, Abdallah HH, Slimani W, Bennour A, Dimassi S, Soyah N, Benzarti A, Rjiba K, Dahleb W, Kammoun M, Hannechi H, Khelifa HB, Khouja NG, Boughamoura L, Kraoua I, Triki C, Tej A, Mathlouthi J, Guith A, Abroug S, Kebaili R, Bouaziz MA, Soua H, Sboui E, Hadded S, Ziadi R, Monastiri K, Ben Hamida H, Ghanmi M, Hassayoun S, Sfar MT, Saad A, Depienne C, Mougou-Zerelli S.   +33 more
europepmc   +1 more source

Detection and Clinical Significance of Chromosomal Mosaicism in Prenatal Diagnosis: A Retrospective Study From a Prenatal Diagnosis Center. [PDF]

J Clin Lab Anal
Pei Y, Luo X, Ran J, Hu L, Liu W, Wei F.
europepmc   +1 more source

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era? [PDF]

Genetics in Medicine, 2013
Chromosomal microarray analysis enables the detection of microdeletions/duplications and has become the standard in clinical diagnostic testing for individuals with congenital anomalies and developmental disabilities. In the era of genomic arrays, the value of traditional chromosome analysis needs to be reassessed.We studied 3,710 unrelated patients by
Chad Shaw, Weimin Bi, Sau Wai Cheung
exaly   +3 more sources

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Clinical Utility of Chromosomal Microarray Analysis

Pediatrics, 2012
OBJECTIVE: To test the hypothesis that chromosomal microarray analysis frequently diagnoses conditions that require specific medical follow-up and that referring physicians respond appropriately to abnormal test results.
Jay W, Ellison, J Britt, Ravnan, Jill A, Rosenfeld, S Annie, Morton, Nicholas J, Neill, Marc S, Williams, Jodi, Lewis, Beth S, Torchia, Cathryn, Walker, Ryan N, Traylor, Kimberly, Moles, Elizabeth, Miller, Jennifer, Lantz, Caitlin, Valentin, Sara L, Minier, Kimberly, Leiser, Berkley R, Powell, Timothy M, Wilks, Lisa G, Shaffer   +18 more
openaire   +3 more sources

Chromosomal Microarray Analysis and Prenatal Diagnosis

Obstetrical & Gynecological Survey, 2014
Chromosomal microarray analysis (CMA) assesses chromosomal copy number alterations and affords higher resolution when compared with standard karyotype. This review provides the obstetric provider with an update on the technology, use, and controversies concerning CMA utilization in prenatal diagnosis.
Jamie O, Lo, Brian L, Shaffer, Cori D, Feist, Aaron B, Caughey   +3 more
openaire   +2 more sources