Prenatal Genetic Testing With Chromosomal Microarray Analysis Identifies Major Risk Variants for Schizophrenia and Other Later-Onset Disorders

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

“…9 By contrast, the most common large rare CNVs, 22q11.2 deletions, have high penetrance for both neuropsychiatric disorders and congenital anomalies, 25 and higher prenatal detection (0.29%) as compared with 15q13.3 deletions (0.02-0.09%). 26 In the absence of newborn screening data, however, the true live birth prevalence for all pathogenic CNVs is unknown.…”

Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome

“…In addition to standard indications for invasive prenatal testing, 3,38 identification of 22q11.2 deletions is now possible by noninvasive prenatal testing that analyzes circulating cell free fetal DNA present in maternal serum 39 as early as the first trimester. Future studies may now be able to prospectively measure fetal growth and outcome in unaffected mothers, where the fetus has been identified to have a 22q11.2 deletion.…”

“…[1][2][3] The associated 22q11.2 deletion occurs most commonly as a de novo mutation; inherited deletions are found in up to 10% of newly diagnosed cases. 1,2 Penetrance is high for any observable phenotype, but expression is variable and unpredictable.…”

Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome

“…We anticipate that widespread use of chromosomal micro-array analysis and non-invasive prenatal testing, and the resulting increased detection of unexpected 22q11.2 deletions in utero will result in the identification of many more hitherto undiagnosed individuals in need of timely genetic counseling (Costain et al 2013). As well, guidelines recommending 22q11.2 deletion screening in children with conotruncal heart defects or neonatal hypocalcemia may facilitate early diagnosis and thus genetic counseling for patients with 22q11.2DS (Monteiro et al 2013); many of the patients in our cohort might have benefitted from such screening.…”

“…22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans Costain et al 2013;Goodship et al 1998;Kaminsky et al 2011). Some features present in infancy or early childhood, including serious congenital heart disease (30-40 % of individuals), palatal anomalies (~40 %), and neonatal hypocalcemia (~10 %) (Bassett et al 2005Cheung et al 2014a;McDonald-McGinn and Sullivan 2011).…”