Noninvasive prenatal diagnosis empowered by high‐throughput sequencing

Abstract excerpt

BACKGROUND: Noninvasive prenatal diagnosis of fetal Down syndrome using direct nucleic acid analysis was once an elusive goal. The presence of cell-free fetal DNA in maternal plasma was discovered in 1997 and offered a new noninvasive source of fetal genetic material. METHOD: A number of approaches have since been developed for the assessment of fetal chromosome dosage based on cellfree fetal DNA analysis. The...

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