Prenatal whole-exome sequencing: parental attitudes

Area of Science:

• Genetics
• Prenatal diagnostics
• Medical ethics

Background:

• Prenatal screening is evolving with advanced genetic technologies.
• Whole-exome sequencing (WES) offers comprehensive genetic information.
• Parental perspectives are crucial for adopting new prenatal technologies.

Purpose of the Study:

• To assess expectant parents' opinions on prenatal whole-exome sequencing (WES).
• To gauge parental acceptability and interest in WES during the first trimester.
• To understand preferences regarding information disclosure from prenatal WES.

Main Methods:

• A questionnaire survey was administered to 186 expectant individuals undergoing first-trimester screening.
• The survey focused on the acceptability of prenatal WES.
• Data were analyzed using descriptive statistics and logistic regression.

Main Results:

• 83% of participants supported offering prenatal WES; 54% were interested in fetal WES.
• A strong majority desired knowledge of both treatable and non-treatable childhood and adult-onset conditions.
• Nearly 60% preferred a turnaround time of 3 weeks or less for prenatal WES.

Conclusions:

• The majority of expectant parents favor the availability of prenatal WES.
• Parents expressed a significant interest in receiving comprehensive genetic information about their future child and potential adult-onset conditions.
• Acceptance of prenatal WES is high, with specific preferences for information scope and turnaround time.