Displasias esqueléticas fetais: análise epidemiológica e correlação ultrassonográfica com desfechos em hospital terciário do Distrito Federal.
Year: 2026
Type: article
Study design: Observational Study
Abstract: Skeletal dysplasias (SD) constitute a heterogeneous group of genetic disorders affecting bone and cartilage development, comprising more than 450 cataloged conditions with an estimated global incidence of approximately 1 in 5,000 births. Although individually rare, they collectively represent a significant portion of congenital malformations detected in the prenatal period, with ultrasonography (US) serving as the primary diagnostic tool. Early diagnosis is essential for family counseling, obstetric and neonatal planning, and recurrence risk assessment, with the differentiation between lethal and non-lethal forms standing out as a major clinical challenge. This study aimed to analyze the epidemiological profile of patients and fetuses with skeletal dysplasias attended at the fetal medicine outpatient clinic of a tertiary hospital in the Federal District, correlating ultrasonographic findings with perinatal outcomes. This is a retrospective study involving a review of 85 cases diagnosed over a ten-year period (2014–2024) using medical and electronic records. Maternal variables, gestational characteristics, specific ultrasonographic findings, and the final fetal status (alive, neonatal death, fetal death, or termination of pregnancy — TOP) were analyzed. The mean maternal age was 29.7 years (range: 16–46). The majority of patients came from the Federal District (61 cases) and Goiás (21 cases), highlighting the service’s role as a regional referral center. A predominance of multiparous women was observed (65%). The mean gestational age at referral was 23 weeks, and at arrival at the outpatient clinic, 26 weeks, revealing a delayed diagnostic window compared to literature recommendations, which advocate a detailed evaluation of the fetal skeleton starting at the 14th week. There was a slight male predominance (45 male versus 32 female cases) and a high rate of cesarean sections (54 cases), reflecting the complexity of the cases. The correlation between ultrasonographic markers and outcomes demonstrated a strong association between the prenatal diagnosis of lethality and an unfavorable prognosis: of the 38 cases classified as lethal, 20 resulted in neonatal death, 10 in TOP, and 7 in fetal death, with only one live fetus. Among the 43 cases classified as non-lethal, 30 were live births, but 11 progressed to neonatal death and 2 to fetal death, underscoring the diagnostic complexity and the possibility of postnatal complications. The presence of fractures (15 cases) and demineralization (14 cases) was associated with severe outcomes, with no live fetuses recorded in these groups. A femur length to abdominal circumference (FL/AC) ratio under 0.16, identified in 46 cases, proved to be a relevant predictor of lethality, resulting in 22 neonatal deaths and 8 TOPs; however, the survival of 9 fetuses in this group reinforces that this index should not be used in isolation, but integrated into a multiparametric and temporal evaluation. The findings corroborate the literature, which points to a combination of markers — such as FL/AC < 0.16, TC/AC < 0.6, reduced lung volume, and bell-shaped thorax — as predictors of lethality, especially when evaluated before 28 weeks. In conclusion, detailed ultrasonography remains an essential pillar in the diagnosis and prognosis of skeletal dysplasias. Early screening, multiparametric evaluation, genetic confirmation, and a multidisciplinary approach are recommended for adequate family counseling.
Source: Revista fisio&terapia.
DOI: 10.69849/vn6svt82
Institution: Hospital Materno-Infantil
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W7203701243