Imaging and Fetal Pheotyping SIG Update

Stephanie Dukhovny, MD
Finnulala Mone, II, PhD
Co-Chairs, Imaging and Fetal Phenotyping SIG

The Imaging and Fetal Phenotyping Special Interest Group met at the 28th International Conference on Prenatal Diagnosis and Therapy in Boston this year.

This year’s meeting featured key presentations, including Dr. Ciaran Hutchinson’s discussion on beyond traditional postmortem imaging techniques to aid in fetal phenotyping and Dr. Stephanie Allen’s discussion of the role of fetal phenotyping in the interpretation of variants in cases of fetal anomalies. We welcomed an engaged group of attendees who participated in a rich discussion with both of our speakers and the audience. Highlights included the connection between these two seemingly different topics, including an emphasis on how cutting edge non-traditional postmortem imaging can aid in fetal diagnosis both in the clinical setting and in the interpretation of genetic variants, particularly in some of the most challenging cases.

This year’s publication in Prenatal Diagnosis saw an Open Access special issue on Fetal Cardiology: Updates and Future Directions where research regarding the optimisation of first trimester imaging (doi/10.1002/pd.6584), the performance of prenatal congenital heart disease screening (doi/epdf/10.1002/pd.6544), incorporation of artificial intelligence (doi/10.1002/pd.6445), fetal therapy (doi/epdf/10.1002/pd.6579) and exome sequencing to optimise diagnosis and management (doi/10.1002/pd.6581) of this important phenotypic system were just some of the extensive topic areas covered. A further special edition focused on the fetal urinary tract with a focus on predicting the outcome of lower urinary tract obstruction (doi/10.1002/pd.6343) and the use of exome sequencing to optimise the yield of molecular diagnosis. Highlights from the 2023 ISPD International Conference in Edinburgh touched on the many exciting talks including the debate from Professor Neeta Vora and Professor Lyn Chitty: ‘The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use’ (doi/10.1002/pd.6469) and curation corner continued to provide novel insights into prenatal genotype-phenotype correlations such as Bardet-Biedl syndrome (doi/10.1002/pd.6619) and Lowe syndrome (doi/10.1002/pd.6563) to name only a couple.