Book Chapter

Genome-Wide Cell-Free DNA-Based Prenatal Testing for Rare Autosomal Trisomies and Subchromosomal Abnormalities

MD Pertile

Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis | Published : 2018


Genome-wide sequencing of cell-free DNA (cfDNA) from maternal plasma enables noninvasive prenatal testing (NIPT) of all 24 chromosomes. A key advantage of the genome-wide approach is its potential to identify pathogenic copy number changes that would go unrecognized using standard methods of cfDNA-based NIPT, which screen only for aneuploidies of chromosomes 13, 18, 21, X and Y. An expanded cfDNA screening approach can identify rare autosomal trisomies associated with pregnancy complications that include miscarriage, true fetal mosaicism, uniparental disomy, fetal growth restriction, and fetal demise; while subchromosomal copy number imbalances such as deletions, duplications, and unbalanced..

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