Peer-reviewed article
Argument in Favor of Reporting Adult-onset Conditions in Prenatal Diagnosis.
Brittany Arditi, Caitlin D Baptiste, Jessica L Giordano, Ronald J Wapner ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a policy opinion paper about whether prenatal genetic testing should report findings for adult-onset diseases in addition to childhood-onset conditions. The authors argue that current restrictions on reporting adult-onset findings lack empirical support and that parents want this information to plan for their child's future health. The paper does not evaluate any intervention affecting child well-being or outcomes.
Key points
- Current laboratory guidelines restrict prenatal reporting to childhood-onset diseases
- Prospective parents consistently want to receive adult-onset findings
- Pediatric and newborn sequencing studies have not found psychological or developmental harms from receiving genetic information
- Pregnancy represents an opportunity to screen an otherwise unscreened population
- Policy should be guided by informed consent and patient autonomy
Limitations
This is a position paper presenting arguments rather than empirical evidence. It does not present data on actual child outcomes or effects of disclosure practices on children's well-being.
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.