Original article Motta M, Zambelloni C, Rodriguez-Perez C, et al . Arch Dis Child Fetal Neonatal Ed (2011). doi:101136/adc2010.195099 F1 of 5 1 Neonatal Intensive Care Unit, Children’s Hospital of Brescia, Brescia, Italy 2 Obstetrics and Gynecology, Spedali Civili and University of Brescia, Brescia, Italy 3 Rheumatology and Clinical Immunology, Spedali Civili and University of Brescia, Brescia, Italy Correspondence to Dr Mario Motta, Neonatology and Neonatal Intensive Care, Children’s Hospital of Brescia, Pzz. le Spedali Civili - 25123 Brescia, Italy; lvmott@tin.it Accepted 28 November 2010 ABSTRACT Objectives Cerebral abnormalities detected by cranial ultrasound (cUS) have been reported in infants born to mothers with autoimmune disease. However, the pathogenesis of the infants’ brain injury remains unclear. The authors aimed to study the possible association between abnormalities on neonatal cUS and perinatal factors related to maternal autoimmune disease. Methods cUS evaluation was carried out at birth in 114 infants born to mothers with autoimmune disease, and repeated up to 8–9 months of life in those showing sonographic abnormalities at the first examination. The authors analysed the relationships among cerebral ultrasound abnormalities and antenatal exposure to maternal drug treatment, placental transfer of auto- antibodies and gestational complications. In addition, infants were investigated for neuromotor development from birth to 24 months of age. Results Cerebral ultrasound abnormalities, including subependymal pseudocyst, lenticulostriate vasculopathy and echogenic periventricular white matter, were detected in 41 of 114 infants (35.9%). No significant associations were found between abnormalities on cUS and the perinatal factors included in the study. No cases of persistent cerebral ultrasound abnormalities or neuromotor delay were observed during the follow-up period. Conclusions A considerable number of cerebral ultrasound abnormalities were observed in a cohort of infants born to mothers with autoimmune disease. However, no perinatal factors were significantly associated with this finding, suggesting the fetal brain impairment had a multi-factorial aetiology. Although no case of neuromotor delay was observed, long term neurological assessment of these babies is recommended in view of the cognitive impairment reported in previous studies. INTRODUCTION Central nervous system involvement has been reported in infants born to mothers with autoim- mune disease. In particular, a spectrum of cranial ultrasound (cUS) fi ndings has been described in neonatal lupus syndrome, including subependy- mal pseudocyst (SEPC), increased echogenic white matter and sonographic lenticulostriate vasculopathy (LSV). 1–3 Although these abnormalities have been reported on cUS of the neonatal brain, the pathogenesis of central nervous system involvement in neonatal lupus erythematosus is still unknown, and the role of a number of potential perinatal factors is Cerebral ultrasound abnormalities in infants born to mothers with autoimmune disease Mario Motta, 1 Cesare Zambelloni, 1 Carmen Rodriguez-Perez, 1 Agnese Angeli, 1 Andrea Lojacono, 2 Angela Tincani, 3 Gaetano Chirico 1 unclear. During gestation, maternal autoimmune disease may expose offspring to several risk factors. Indeed, the rate of gestational complications such as fetal loss, pre-eclampsia, intrauterine growth restriction (IUGR) and preterm delivery is higher in autoimmune disease affected mothers than in the general population. 4–7 Moreover, maternal drug treatment during pregnancy and placental transfer of antiphospholipid antibodies (aPL) and anti-Ro/SSA auto-antibodies could be involved in the mechanism(s) of fetal compromise. 8–10 To our knowledge, no previous studies have investigated the relationship between neonatal cerebral ultra- sound abnormalities and perinatal risk factors in this clinical setting. The purpose of this study was to prospectively evaluate the incidence of abnormalities on cUS in infants born to mothers with autoimmune disease and to evaluate the relationship with the perinatal risk factors associated with the maternal disease. PATIENTS AND METHODS Study populations and perinatal risk factors This study was performed in a single centre, the Spedali Civili - Hospital of Brescia. From January 2000 to December 2008, all infants born to moth- ers with autoimmune disease were prospectively enrolled in the study. Autoimmune diseases What is already known on this topic Cerebral ultrasound abnormalities have been reported in neonates born to mothers with autoimmune disease, but the pathogenesis is not yet fully understood. What this study adds ▶ Although over one third of studied infants had cranial ultrasound abnormalities identified at birth, these resolved and no cases of neurodevelopmental delay were detected during the 2-year follow-up period. ▶ No specific perinatal risk factor related to maternal autoimmune disease was significantly associated with infants’ brain abnormalities detected by cranial sonography, suggesting a multi-factorial aetiology. 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