Chromosomal Microarray versus Karyotyping for 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 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 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 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 کاملMultiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study
BACKGROUND In the past 30 years karyotyping was the gold standard for prenatal diagnosis of chromosomal aberrations in the fetus. Traditional karyotyping (TKT) has a high accuracy and reliability. However, it is labor intensive, the results take 14-21 days, the costs are high and unwanted findings such as abnormalities with unknown clinical relevance are not uncommon. These disadvantages challe...
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2012
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmoa1203382