2026年 · 第08卷第03期

The exposome is defined as the totality of environmental exposures that affect health over a lifetime.^1,2As we reflect on two decades since its inception, it is clear that the most notable impacts of exposure may be realized during pregnancy and in the newborn phrase. We argue that prioritizing early-life exposure, encompassing the preconception, prenatal, and early postnatal periods, is not only essential for understanding disease etiology but is also a strategic imperative for shaping effective public health policies aimed at promoting a healthier life (Fig. 1).

Gestational diabetes mellitus (GDM) is a common pregnancy complication characterized by glucose intolerance and underlying metabolic dysregulation. GDM disrupts maternal metabolism, affecting the fetal–maternal axis and potentially impairing neonatal development. Although the need for pharmacological intervention clinically distinguishes GDM A1 and A2 subtypes,¹their longitudinal metabolic trajectories and specific effects on neonatal metabolism remain poorly understood.

Simpson–Golabi–Behmel syndrome (SGBS) is a rare X-linked genetic disorder with an estimated incidence ranging from 1:50,000 to 1:100,000.¹It is characterized by prenatal and postnatal overgrowth (macrosomia) and craniofacial abnormalities (macrocephaly and cleft palate). Furthermore, it involves multiple organ systems, for example, congenital cardiac anomalies and diaphragmatic hernia, posing substantial risks to fetal survival and maternal health. Most cases of SGBS are diagnosed postnatally or during mid-trimester amniocentesis; however, the present case demonstrates the feasibility of early prenatal detection through chorionic villus sampling (CVS) at approximately 12 weeks of gestation. In contrast to prior reports, which have necessitated multiple phenotypic abnormalities, such as cleft palate and organomegaly, the current case was diagnosed solely based on increased nuchal translucency (NT) thickness and chromosomal copy number variation (CNV) analysis. This finding underscores the critical role of genetic testing in atypical clinical presentations, particularly given the rarity of early prenatal diagnoses via CVS. The present report details a case in which increased NT thickness prompted CVS, facilitating the early diagnosis of SGBS and clinical decision-making.

Intracerebral abscess during pregnancy is an exceptionally rare but potentially life-threatening condition requiring urgent diagnosis and coordinated multidisciplinary management.¹Clinical presentation may overlap with more common obstetric emergencies such as eclampsia, preeclampsia, or hemolysis, elevated liver enzymes and low platelet syndrome, thereby delaying recognition and definitive treatment.^2,3,4Because available evidence is limited largely to isolated case reports, management decisions frequently rely on extrapolation from non-pregnant populations and individualized balancing of maternal neurological priorities with fetal well-being.

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