Extra‐cardiac diagnoses and postnatal outcomes of fetal tetralogy of fallot

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Abstract
Objective Past studies of fetal tetralogy of Fallot (ToF) have reported extra-cardiac anomalies (ECAs) in 17-45%, genetic syndromes in as low as 20% and poor postnatal outcomes. This study sought to examine these factors in a contemporary cohort. Methods A retrospective review examining 83 fetuses with ToF diagnosed 2012-2019. Referral indication, ToF subtype, additional cardiac, extra-cardiac and genetic diagnoses, pregnancy outcomes and survival were documented. Results The mean gestational age at diagnosis was 23±4 weeks. Of 94% (78/83) with genetic testing, 30% (23/78, 95%CI 21-40%) had genetic anomalies, including Trisomy 21 (39%, 9/23), 22q11 deletion (35%, 8/23), Trisomy 13 or 18 (17%, 4/23) and 9% (2/23) others. A further 4% (3/78) had VACTERL association. Forty-one percent (34/83, 95%CI 31-52%) had ≥1 major ECA of whom 41% (14/34) also had a genetic anomaly. Outcomes: 22% (18/83) pregnancy termination, 5% (4/83) intrauterine death and 72% (60/83) live birth. Of live births, 3% (2/60) experienced neonatal death, 7% late death (4/60) and 90% (54/60) were alive at last follow-up (mean age 3.5±2.4 years). Conclusion In a cohort of fetuses with ToF and high rates of genetic testing, compared to previous reports, genetic anomalies were more common and there were similar rates of ECAs.

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