Maternal and neonatal outcomes in Marfan syndrome: a nationwide registry

Pregnancy in women with Marfan syndrome (MFS) is associated with increased maternal and neonatal risks, yet most existing studies are limited by small sample sizes and short follow-up. This study aimed to evaluate peripartum and long-term maternal outcomes, as well as neonatal outcomes, in MFS pregnancies using nationwide data from Taiwan.

This population-based cohort study analysed pregnancies identified from national health databases in Taiwan between 2004 and 2022. Maternal outcomes included severe aortic complications, 42-day and late maternal mortality and long-term cardiovascular events. Neonatal outcomes comprised gestational age, birth weight and neonatal complications. Logistic and Poisson regression models were used to estimate adjusted ORs and incidence rate ratio (IRR).

Among 3 337 969 pregnancies (2 073 560 women), 794 pregnancies in 500 women with MFS were identified. Compared with non-MFS pregnancies, those with MFS had markedly higher rates of severe aortic complications (1.1% vs 0.0005%) and 42-day maternal mortality (0.1% vs 0.02%). During a mean 10.7-year follow-up, the risks of composite aortic events (IRR 885.4, 95% CI 629.3 to 1245.6) and late maternal mortality (IRR 5.1, 95% CI 3.1 to 8.7) remained significantly elevated. Neonates born to mothers with MFS had lower gestational age and birth weight and higher risks of neonatal complications requiring intensive care.

MFS pregnancies carry high risks of aortic complications and maternal mortality, persisting into long-term follow-up. Neonatal outcomes are also adversely affected. Early diagnosis, preconception counselling and multidisciplinary, guideline-adherent care are essential to optimise maternal and neonatal safety and long-term outcomes.