Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management

Area of Science:

• Genetics
• Maternal-Fetal Medicine
• Health Informatics

Background:

• Noninvasive prenatal screening (NIPS) is increasingly common, requiring effective genetic counseling.
• Web-based technologies and telegenetic services can improve NIPS results delivery and counseling.
• Guidelines emphasize counseling for both negative and positive NIPS results.

Purpose of the Study:

• To assess patient utilization and satisfaction with a technology platform for NIPS results dissemination.
• To quantify patient motivation for posttest genetic counseling.
• To evaluate a platform's role in large-scale NIPS results management.

Main Methods:

• A technology platform provided NIPS education videos, secure results portal, and telegenetic counseling.
• Automated delivery for negative results; direct contact for positive results.
• Data collected over 39 months on NIPS results and counseling uptake.

Main Results:

• 67,122 NIPS results were issued; 4,673 patients opted for genetic counseling.
• 95.2% of consultations were for negative results; over 70% were on-demand.
• Positive screens, advanced maternal age, and history of chromosomal abnormalities increased counseling likelihood.

Conclusions:

• A technology platform effectively facilitates NIPS results disclosure and counseling for large populations.
• This approach aligns NIPS results delivery with professional guidelines.
• Further research should explore patient and provider satisfaction in more detail.