Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis
نویسندگان
چکیده
منابع مشابه
Chromosomal microarray versus karyotyping for prenatal diagnosis.
BACKGROUND Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. METHODS Samples from women undergoing prenatal diagnosis at 29 c...
متن کاملThe Use of Chromosomal Microarray Analysis in Prenatal Diagnosis.
Chromosomal microarray analysis (CMA) identifies microdeletions and duplications undetected on karyotype analysis. Copy number variants (CNVs) occur in 1% to 1.7% of all pregnancies, with clinical implications. All women undergoing invasive testing for routine indications should be offered microarray. Clinically significant CNVs are seen in approximately 6% of pregnancies with ultrasound anomal...
متن کاملchromosomal microarray with standard karyotyping for routine and high risk prenatal diagnosis
s 1 – 8 Moderators: George Saade, MD, President, SMFM; Joshua Copel, MD, Immediate Past President, SMFM; Alan Guttmacher, MD, Director, NICHD 1 A multicenter, prospective, masked comparison of chromosomal microarray with standard karyotyping for routine and high risk prenatal diagnosis Ronald Wapner Prenatal Microarray Study Group, NICHD, Bethesda, MD OBJECTIVE: To evaluate the performance of c...
متن کاملClinical implementation of chromosomal microarray technology in prenatal diagnosis. (Review).
Chromosomal microarray technology represents the technical convergence of molecular genetics and cytogenetics, and is rapidly revolutionizing modern cytogenetics. Expected genomic aberrations are accurately identified and provide readily interpretable results that are suitable for clinical risk stratification and therapeutic strategies. The applic...
متن کاملChromosomal mosaicism on amniotic interphase nuclei detected by multiprobe FISH.
So far classical prenatal detection of chromosome aberrations has been limited to the evaluation of metaphase by means of time-consuming cytogenetic techniques. The MultiVision PGT test enables a simultaneous detection of aneuploidies of chromosomes 13,18, 21, X, and Y, even 24 h after amniocentesis. In the presented case, this test detected prenatally a chromosomal mosaicism 69,XYY[35]/46,XY[6...
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ژورنال
عنوان ژورنال: Journal of Cellular and Molecular Medicine
سال: 2020
ISSN: 1582-1838,1582-4934
DOI: 10.1111/jcmm.16080