Alice 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
BACKGROUND: Trio exome sequencing can be used to investigate congenital abnormalities identified on pregnancy ultrasound, but its use in an Australian context has not been assessed. AIMS: Assess clinical outcomes and changes in management after expedited genomic testing in the prenatal period to guide the development of a model for widespread implementation. MATERIALS AND METHODS: Forty-three prospective referrals for whole exome sequencing, including 40 trios (parents and pregnancy), two singletons and one duo were assessed in a tertiary hospital setting with access to a state-wide pathology laboratory...
April 5, 2024: Australian & New Zealand Journal of Obstetrics & Gynaecology