Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.

Anna M Kucinska-Chahwan Maciej GeremekTomasz RoszkowskiJulia BijokDiana MassalskaMichal CiebieraHildeberto CorreiaIris Pereira-CaetanoAna BarretaEwa ObersztynAnna Kutkowska-KaźmierczakPaweł WłasienkoMalgorzata Krajewska-WalasekPiotr WęgrzynLech DudarewiczWaldemar KrzeszowskiMagda Rybak-KrzyszkowskaBeata Nowakowska

Published in: Genes (2022)

Exome sequencing increases the detection rate in fetuses with structural anomalies and improves genetic counseling for both the affected couple and their relatives.

Keyphrases

copy number
single cell
genome wide
smoking cessation
primary care
healthcare
hiv testing
quality improvement
gestational age
loop mediated isothermal amplification
label free
real time pcr
hiv infected
quantum dots
sensitive detection