Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …

The fetal fraction (FF) is a function of both biological factors and bioinformatics algorithms
used to interpret DNA sequencing results. It is an essential quality control component of …

Purpose To assess the clinical performance of an expanded noninvasive prenatal screening
(NIPS) test (“NIPS-Plus”) for detection of both aneuploidy and genome-wide microdeletion …

Background Historically, prenatal screening has focused primarily on the detection of fetal
aneuploidies. Cell-free DNA now enables noninvasive screening for subchromosomal copy …

Background Since its debut in 2011, cell-free fetal DNA screening has undergone rapid
expansion with respect to both utilization and coverage. However, conclusive data regarding …

Summary Chromosome 22q11. 2 deletion syndrome is the most common microdeletion
syndrome in humans. The effects are protean and highly variable, making a unified …

Single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal testing (NIPT) can
currently predict a subset of submicroscopic abnormalities associated with severe clinical …

Objective Noninvasive prenatal testing (NIPT) can assess chromosomes other than 13, 18,
21, X and Y. These rare autosomal trisomies (RATs) can adversely affect pregnancy …

Progress in characterizing and predicting psychotic illness in 22q11. 2DS supports this
identifiable subpopulation as a molecular model with important implications for …

Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of
clinical diagnosis of 22q11. 2 deletion syndrome (22q11. 2DS) and still represent the main …