Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study.
Kimberly MartinMary E NortonCora MacPhersonZachary P DemkoMelissa EgbertSina HaeriFergal MaloneRonald J WapnerAshley S RomanAsma KhalilRevital FaroRajeevi MadankumarNoel StrongRobert SilverNidhi VohraJon HyettCharlly KaoHakon HakonarsonBo JacobsonPe'er DarPublished in: Prenatal diagnosis (2023)
High-risk screening results for 22q11.2DS were associated with higher rates of prenatal and neonatal diagnostic genetic testing and other 22q11.2DS-specific evaluations. However, these interventions were not universally performed, and >50% of high-risk infants were discharged without genetic testing, representing possible missed opportunities to improve outcomes for affected individuals.