Targeted cell‐free DNA analysis with microarray quantitation for assessment of fetal sex and sex chromosome aneuploidy risk
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منابع مشابه
Targeted cell‐free DNA analysis with microarray quantitation for assessment of fetal sex and sex chromosome aneuploidy risk
The accuracy of targeted cell-free DNA (cfDNA) testing with DANSRTM and FORTETM for trisomies 21, 18 and 13 has been well demonstrated and is consistent across next generation sequencing and microarray quantitation methods1. Targeted cfDNA analysis for fetal sex chromosome aneuploidy (SCA) has also been validated and shown to have high specificity in prospective studies2,3. This study expands u...
متن کاملAssessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis.
OBJECTIVE To examine the performance of chromosome-selective sequencing of cell-free (cf) DNA in maternal blood for assessment of fetal sex chromosome aneuploidies. METHODS This was a case-control study of 177 stored maternal plasma samples, obtained before fetal karyotyping at 11-13 weeks of gestation, from 59 singleton pregnancies with fetal sex chromosome aneuploidies (45,X, n = 49; 47,XXX...
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Massively parallel sequencing (MPS) combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs) by sequencing cell-free fetal DNA (cffDNA) from maternal plasma, so-called non-invasive prenatal testing (NIPT). However, many technical challenges, such as dependency on correct fetal sex pred...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2018
ISSN: 0960-7692,1469-0705
DOI: 10.1002/uog.18968