ABSTRACT Objective To assess the natural history of conotruncal anomalies (CTA) diagnosed by early fetal echocardiography, focusing on lesion progression and genetic findings. A secondary aim was to develop nomograms for great arteries at 12 + 0 to 15 + 6 weeks to assess whether early measurements could help identify fetuses at risk of CTA progression. Method A retrospective cohort study of fetuses diagnosed with CTA before 16 weeks' were identified between 2018 and 2024. Only cases with postnatal or postmortem confirmation were included. Progression was defined as a morphological change requiring revision of the initial diagnosis. Genetic testing was offered. Measurements of aortic and pulmonary artery diameters were collected in normal fetuses. Results Of 152 cases of CTA diagnosed before 16 weeks, 101 met the inclusion criteria. Pregnancy termination was chosen in 31 of these cases. Among 70 ongoing pregnancies, intrauterine demise and postnatal death occurred in 4 cases. Lesion progression was observed in 28.6% of cases. Early great‐artery biometry differed between progressing and non‐progressing phenotypes. Genetic abnormalities were detected in 13 cases, including 8 non‐isolated and 5 isolated cases. Conclusions CTA diagnosed before 16 weeks of gestation are dynamic conditions, with one in four showing antenatal progression. Early assessment of great‐artery diameters may help identify cases at higher risk of progression.
Volpe et al. (Fri,) studied this question.
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