EP07.08: Clinical experience with non‐invasive prenatal testing (NIPT) for rare autosomal trisomies.

Autor: Liao, F., Huynh, D., Bhatt, S., Kim, S., Corey, V., Curnow, K., Seltzer, W., Beruti, S., Massa, J.D.
Předmět:
Zdroj: Ultrasound in Obstetrics & Gynecology; Oct2018 Supplement S1, Vol. 52, p221-221, 1p
Abstrakt: A whole-genome sequencing (WGS) approach for NIPT allows for analysis of all 24 chromosomes. This study presents our initial clinical experience with expanded NIPT with a focus on clinical outcomes for rare autosomal trisomies (RATs). Classification thresholds for each chromosome were derived to maximise specificity while accounting for differences in prevalence for each chromosome anomaly. [Extracted from the article]
Databáze: Complementary Index