Genomic Testing in Pregnancy Management
Author Information
Author(s): A. Rogers, Lucas De Jong, Wendy Waters, Lesley H. Rawlings, Keryn Simons, Song Gao, Julien Soubrier, Rosalie Kenyon, Ming Lin, Rob King, David M. Lawrence, Peter Muller, Shannon Leblanc, Lesley McGregor, Suzanne C. E. H. Sallevelt, Jan Liebelt, Tristan S. E. Hardy, Janice M. Fletcher, Hamish S. Scott, Abhi Kulkarni, Christopher P. Barnett, Karin S. Kassahn
Primary Institution: Women's and Children's Hospital, Adelaide, South Australia, Australia
Hypothesis
Can rapid prenatal whole exome sequencing (WES) improve clinical outcomes and management in pregnancies with congenital abnormalities?
Conclusion
Rapid second trimester prenatal genomic testing can effectively guide pregnancy management and decision-making.
Supporting Evidence
- 15 out of 43 pregnancies (35%) had a clinically significant genomic diagnosis.
- The average turn-around time for results was 12 days.
- 67% of families with a positive finding opted for termination of pregnancy.
- 83% of families without a diagnosis continued their pregnancies.
- 8 out of 15 diagnoses were confirmed de novo.
- Rapid testing was implemented without significant additional resources.
- Families actively used genomic results for future pregnancy planning.
- Logistical challenges were addressed by establishing a dedicated reporting team.
Takeaway
Doctors can use special tests to quickly find out if a baby has any serious health problems while still in the mom's belly, which helps families make important decisions.
Methodology
The study assessed 43 prospective referrals for whole exome sequencing in a tertiary hospital setting, evaluating diagnostic yield, turn-around time, and changes in management.
Limitations
The study was limited to a single center and may not be generalizable to all settings.
Participant Demographics
Participants included families referred for prenatal genomic testing due to suspected genetic conditions.
Digital Object Identifier (DOI)
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