Clin Ther. 2026 May 28:S0149-2918(26)00184-0. doi: 10.1016/j.clinthera.2026.05.020. Online ahead of print.
ABSTRACT
Genomic sequencing (GS) in the neonatal period has advanced over the past several years. Results are available within days in many centers and cost-effectiveness and utility data continue to accumulate. Though less prevalent in clinical practice, prenatal GS is also demonstrating increasing evidence of efficacy. Clearly, information on a genetic disorder’s presence or absence is very useful for families and providers, both during pregnancy and postnatally in the intensive care units. Precision therapies for genetic disorders continue to advance in the pediatric space and, in some instances, are being considered for prenatal therapy. Despite caring for the same families along a continuum of care, prenatal and neonatal discussions about genomic sequencing are often siloed. We urge providers in the prenatal and neonatal spaces to align genomic medicine service delivery and consider offering GS prenatally or, at least, prenatally coordinating postnatal rapid GS in the third trimester to facilitate rapid diagnosis and patient-centered care.
PMID:42209309 | DOI:10.1016/j.clinthera.2026.05.020