Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities
نویسندگان
چکیده
منابع مشابه
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.
Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using a benchtop semiconduct...
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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...
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Current screening for fetal aneuploidies relies on biochemical and ultrasound measurements, and the sensitivity and specificity needs to be improved to reduce the number of pregnant women subjected to invasive diagnostic procedures, such as amniocentesis. Proteomic technologies enable new strategies for discovering biomarkers from complex biological fluids in a high-throughput and sensitive man...
متن کاملValidation of quantitative fluorescent-PCR for rapid prenatal diagnosis of common aneuploidies in the Chinese population.
Quantitative fluorescent polymerase chain reaction (QF-PCR) is an accurate and reliable method for rapid detection of aneuploidy; however, it is not routinely used in China. We aimed to validate QF-PCR as a means for prenatal common aneuploidy screening and to analyze the heterozygosities of short tandem repeat (STR) markers in the Chinese population. The sequences of 19 STR markers in chromoso...
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ژورنال
عنوان ژورنال: Medical Sciences
سال: 2019
ISSN: 2076-3271
DOI: 10.3390/medsci7020016