Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies.

Marco La VerdeLuigia De FalcoAnnalaura TorellaGiovanni SavaresePasquale SavareseRaffaella RuggieroAnna ConteVera FicoMarco TorellaAntonio Fico

Published in: BMC medical genomics (2021)

This retrospective analysis of a large cohort of consecutive patients who had whole-genome sequencing-based NIPT for classic trisomies and SCA shows excellent detection rates and low false positive rates.

Keyphrases

preterm birth
gestational age
pregnant women
single cell
birth weight
loop mediated isothermal amplification
physical activity
weight loss