Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15
نویسندگان
چکیده
منابع مشابه
Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X.
Trisomy X is a sex chromosomal abnormality with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1000 female births. There is considerable variation in the phenotype, from asymptomatic and very mildly affected to significant physical and psychological f...
متن کاملEthical and practical challenges in providing noninvasive prenatal testing for chromosome abnormalities: an update.
PURPOSE OF REVIEW Noninvasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has rapidly changed screening for fetal chromosome abnormalities. We review practical and ethical challenges associated with the transition, progress in their resolution, and identify new emerging difficulties. RECENT FINDINGS NIPT is an advanced screening test for trisomies 21, 18, ...
متن کاملNon-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues
Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be in...
متن کاملChromosome Abnormalities in Prenatal Diagnosis
Objective: To investigate antenatal detection the chromosome abnormalities in high risk pregnancies and correlation between karyotype analysis and FISH (Fluorescent In Situ Hybridization). Method: Were analyzed cytogenetic results from a total of 594 cases between 2008-2009. Amniotic fluid karyotyping and FISH have been offered to pregnant women with genetic risk, using the standard method and ...
متن کاملMeDIP Real-Time qPCR has the Potential for Noninvasive Prenatal Screening of Fetal Trisomy 21
This study aimed to verify the reliability of the 7 tissue differentially methylated regions used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based approach of fetal DNA in maternal blood to diagnosis of fetal trisomy 21. Forty pregnant women with high risk pregnancy who were referred after first or second trimester screeni...
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ژورنال
عنوان ژورنال: Journal of Clinical Laboratory Analysis
سال: 2019
ISSN: 0887-8013,1098-2825
DOI: 10.1002/jcla.22911