Joana Mafra

The nonvisualization of the fetal gallbladder (NVFGB) is a rare finding, occurring in approximately 0.1% of pregnancies. The NVFGB may be classified as either isolated or nonisolated, depending on whether it occurs in conjunction with additional anomalies. A retrospective study, conducted from January 2016 to May 2022 was designed to evaluate the clinical features, management and prognosis of NVFGB. Thirteen cases were referred to the prenatal diagnostic center. The cases were classified as two that were isolated and 11 were nonisolated. In isolated cases, chromosomal analysis and genetic testing for common CFTR (cystic fibrosis transmembrane conductance regulator) mutations yielded normal results, and isolated gallbladder agenesis was confirmed postnatally. In the nonisolated group, two cases were diagnosed with cystic fibrosis (CF) and one with Williams syndrome. Of the 11 nonisolated cases, ten resulted in termination of pregnancy (TOP), while in one case, the gallbladder was observed at 24-week gestation. Prenatal management of NVFGB remains a significant challenge. Its prognosis is closely related to the presence of other abnormalities. CF plays a significant role when gastrointestinal anomalies are detected. When isolated, once CF and chromosomal abnormalities are excluded, NVFGB is generally considered a benign condition.

Ehlers-Danlos syndrome (EDS) type IV is a hereditary autosomal dominant disease associated with skin and vascular fragility, hyperextensibility and joint hypermobility. Spontaneous arterial rupture is one of its higher-risk features. The authors describe a case of a woman with EDS type IV who presented with a spontaneous breast haematoma associated with a pseudoaneurysm of a branch of the left internal mammary artery. The patient underwent a minimally invasive endovascular approach that was uneventful. However, 6 months later, she presented in the emergency room with a similar episode on the contralateral breast. There were no signs of active bleeding, and she stayed under surveillance. Nine months later, she was asymptomatic. Aneurysms of branches of the internal mammary artery are rare and prone to rupture. Early diagnosis and treatment are imperative, and this case demonstrates that an endovascular approach is a safe treatment option.

Background: The association between fetal growth restriction (FGR) and childhood neurodevelopmental delay is unclear and the evidence available to the present date shows conflicting results. Our aim was to analyse the impact of early-onset FGR on the neurodevelopmental outcome at 24 months of corrected age in very preterm infants. Methods: Retrospective cohort study of very preterm infants (≤ 32 weeks’ gestation) admitted to a neonatal intensive care unit between 1 January 2013–31 December 2019. The control group comprised appropriate for gestational age (AGA) newborns. Griffiths III Mental Development Scale was performed at 24 months of corrected age. Results: 132 infants were included: 44 FGR and 88 AGA. Mean Global Development Quotient (GDQ) was lower for FGR infants (p = 0.004) even after adjusting for maternal and perinatal factors (β_adjusted -16.703; p = 0.009). The average scores for the neurodevelopmental domains were highest for personal-social-emotional skills (107.02 ± 16.34), followed by eye/hand coordination (105.61 ± 14.20) and foundation of learning skills (102.23 ± 13.74) and were lowest for gross motor (97.90 ± 11.88) and language/communication skills (96.39 ± 18.88). FGR had a significant negative impact on all domains except for gross motor skills. After adjustment, FGR continued to have a significant adverse impact on language/communication (β_adjusted -21.924; p = 0.013), eye/hand coordination (β_adjusted -15.446; p = 0.015) and foundation of learning skills (β_adjusted -15.211; p = 0.013). Conclusions: In very preterm infants, FGR was associated with a significantly increased risk of poor neurodevelopmental outcome at 24 months of corrected age compared to age-matched AGA infants.