Tags: Clinical Experience / Clinical Utility, 2018, China, RAAs, CNVs

• This publication retrospectively reviewed the follow-up information from 32,431 cases at a single tertiary care center offering Expanded NIPT.

The post Perinatal outcomes following cell-free DNA screening in >32 000 women: Clinical follow-up data from a single tertiary center appeared first on Global NIPT Consortium.

Tags: Clinical Experience / Clinical Utility, 2018, Netherlands, RAAs, CNVs

• This publication demonstrated the potential clinical utility of detecting chromosome anomalies other than the common aneuploidies using Expanded NIPT. In this study population, 1.6% of the cases undergoing Expanded NIPT were screen positive for a rare chromosome anomaly that was either a rare autosomal trisomy or a large partial deletion/duplication. Of these cases, 60% were associated with an adverse pregnancy outcome, including abnormal fetal phenotype and intrauterine growth restriction.

The post Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study appeared first on Global NIPT Consortium.

Tags: Clinical Experience / Clinical Utility, 2018, Australia, RAAs

• This publication demonstrated the importance of screening all autosomes using NIPT. Of the cases analyzed, 1/835 (0.12%) were identified to have a rare autosomal trisomy. Of these cases, 68% were associated with adverse outcomes, that included pregnancy loss, prematurity, true fetal mosaicism, growth restriction, and fetal structural anomalies.

The post Rare autosomal trisomies: Important and not so rare. Prenat Diagn appeared first on Global NIPT Consortium.