Practical Applications of Chromosomal Microarray in Prenatal Diagnosis
نویسندگان
چکیده
Abstract G-banded karyotyping is the most common approach for detection of genomic alterations. However, this unable to detect changes less than 5 Mb. The ability fluorescence in situ hybridization (FISH) cryptic chromosomal rearrangements exceeds resolution routine karyotype. conventional FISH targeted regions only, whereas microarray a whole-genome copy number evaluation technique with 10 20 kb. In article, we discuss application 750 K 384 consecutive prenatal diagnosis cases. Overall diagnostic yield 15.36%, and accounts 3.6% additional rate. We suggest applying as first-tier test along backup culture all
منابع مشابه
Chromosomal microarray versus karyotyping for prenatal diagnosis.
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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...
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ژورنال
عنوان ژورنال: Journal of Fetal Medicine
سال: 2023
ISSN: ['2348-8859', '2348-1153']
DOI: https://doi.org/10.1055/s-0043-57021