Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing | Miceikaitė I, et al | The New England Journal of Medicine | Nov. 2023
Nonacus Product: Cell3™ Target: Nexome
Abstract
No abstract available
To the Editor
Fetal genetic diagnosis is pivotal in prenatal care, and recent advancements in prenatal trio-exome sequencing have shown diagnostic gains. However, owing to the invasive nature of fetal sampling, its use is limited to fetuses with identifiable structural anomalies. This limitation leaves many monogenic disorders undiagnosed because they do not manifest in the prenatal period, resulting in a large number of neonates with lethal and severely debilitating pediatric disorders. The development of noninvasive fetal tests using cell-free DNA from a maternal blood sample has revolutionized prenatal screening, but its application has mainly been limited to chromosomal disorders owing to the low resolution available with the existing screens.
fetal screening, cfDNA, NIPT, prenatal genetics