Argument in Favor of Reporting Adult-onset Conditions in Prenatal Diagnosis.

Abstract

Prenatal genomic sequencing can detect far more than clinicians conventionally report. Whether adult-onset conditions diagnosed in the fetus should be disclosed prenatally remains debated, and most laboratories and guidelines restrict reporting to childhood-onset disease. We argue that this restriction is not supported by available evidence. Prospective parents consistently elect to receive adult-onset findings, most often to plan for a child's future health. Pediatric and newborn sequencing studies have not demonstrated the psychological, relational, or developmental harms critics anticipated, and pregnancy offers an unmatched opportunity to reach an otherwise unscreened population. Policy should be guided by informed consent and patient autonomy.