Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome

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

“…Data relevant to reproductive health were compiled by the authors (CC, LO) from a comprehensive retrospective chart review, using previously published methods (Bassett et al 2005;Cheung et al 2014a;Costain et al 2011). Interview notes, pregnancy and developmental history assessments, medical records, and/or collateral information provided by family members were available for review.…”

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

“…There were no cases with absence of prenatal care, history of assisted reproduction, or extremes of maternal age (i.e., <17 or >40 years). 29,30 Psychiatric diagnosis and outcome variables As before, 4,13,20,21,23,24 we (A.S.B. or E.W.C.C.)…”

“…4,15,[19][20][21][22][23][24] Purpose: Schizophrenia occurs in 20-25% of adults with 22q11.2 deletion syndrome (22q11.2DS). General population studies of schizophrenia report associations with perinatal complications, although effect sizes are generally low.…”

“…[19][20][21] We recorded birth weight in grams (median 2,977, range 1,361-4,710) and gestational age in weeks (median 40, range 30-43). We used a standard definition of prematurity (<37 weeks of gestation).…”

Cell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screening

“…Supporters of universal prenatal screening for 22q11.2 DS argue that prenatal diagnosis may improve long-term developmental outcomes by preventing newborn hypocalcemia and seizures. These complications have been linked to an increased risk of intellectual disability in a small retrospective case-control study 15 . Instituting prenatal or newborn screening to improve long-term intellectual outcome is an attractive proposal, but it has not been examined prospectively in any study.…”