Patient attitudes and preferences about expanded noninvasive prenatal testing

Area of Science:

• Genetics
• Maternal-Fetal Medicine
• Reproductive Health

Background:

• Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) screens for common fetal chromosomal anomalies.
• Expanded NIPT options are emerging, but patient attitudes towards them are largely unknown.
• Understanding patient preferences is crucial for implementing expanded NIPT services.

Purpose of the Study:

• To investigate general-risk pregnant patients' attitudes and preferences regarding expanded NIPT.
• To assess patient expectations for the scope of information provided by cfDNA screening.
• To explore patient comfort levels with screening for various conditions and financial considerations.

Main Methods:

• A survey was administered to 200 general-risk pregnant patients undergoing first-tier cfDNA screening.
• Questions covered pregnancy history, opinions on NIPT, incidental findings, financial resources, and demographics.
• Patient expectations for information scope and comfort with different screening conditions were assessed.

Main Results:

• Most participants desired all available information impacting fetal, infant, or maternal health.
• High interest was shown in fetal sex, common trisomies, rare autosomal aneuploidies, and broader genetic information.
• Patients were comfortable screening for well-known, treatable conditions impacting pregnancy care; many advocated for free or subsidized expanded NIPT.

Conclusions:

• Pregnant patients are receptive to expanded NIPT, seeking comprehensive genetic information.
• Patient preferences indicate a desire for information with immediate or future health implications.
• Appropriate pre-test counseling may facilitate patient acceptance of broader NIPT screening options.