Prenatal diagnosis by chromosomal microarray analysis
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 کاملPrenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis
The aims of this study were to evaluate the contribution of chromosomal microarray analysis (CMA) in the prenatal diagnosis of fetuses with central nervous system (CNS) anomalies but normal chromosomal karyotype. A total of 46 fetuses with CNS anomalies with or without other ultrasound anomalies but normal karyotypes were evaluated by array-based comparative genomic hybridisation (aCGH) or sing...
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 کاملPrenatal sonographic diagnosis of urorectal septum malformation sequence and chromosomal microarray analysis
INTRODUCTION Urorectal septum malformation sequence (URSMS) is a rare congenital abnormal syndrome that is caused by the incomplete division of the cloaca. Based on whether the cloaca membrane breaks down or not, the URSMS are classified as full and partial forms. The prenatal diagnosis of URSMS remains challenging because of poor recognition to this malformation and the relatively non-specific...
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ژورنال
عنوان ژورنال: Fertility and Sterility
سال: 2018
ISSN: 0015-0282
DOI: 10.1016/j.fertnstert.2018.01.005