Prenatal diagnosis
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To assess the performance of cell-free DNA (cfDNA) testing in maternal blood for detection of fetal aneuploidy of chromosomes 13, 18, 21, X, and Y using targeted sequencing of single-nucleotide polymorphisms. ⋯ cfDNA testing in maternal blood using targeted sequencing of polymorphic loci at chromosomes 13, 18, 21, X, and Y holds promise for accurate detection of fetal autosomal trisomies, sex chromosome aneuploidies, and triploidy.
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Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing.
To determine whether non-invasive prenatal testing by maternal plasma DNA sequencing can uncover all fetal chromosome aneuploidies in one simple sequencing event. ⋯ Our results indicate that non-invasive detection of fetal chromosome aneuploidies for all 24 chromosomes in one single sequencing event is feasible.
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To assess maternal-fetal medicine (MFM) fellowship obstetrical ultrasound training, scope of practice and research. ⋯ Most fellows are trained in ultrasound during their first year of fellowship and feel comfortable performing routine exams. However, ultrasound mentorship, structured training and research in prenatal ultrasound are limited in some programs.