Paediatric cataracts are one of the more common ocular abnormalities that occur in approximately 6 in 10,000 infants and are a major cause of childhood blindness. A suggested pathological mechanism for congenital cataract formation is the abnormal arrangement of lens fibres during embryogenesis. While toxins, chromosomal abnormalities, infections and metabolic disorders account for the majority of the cases, up to 87% of unilateral cataracts remain idiopathic, making disease prevention an ongoing challenge. Early diagnosis and timely referral to ensure effective genetic counselling and postnatal follow‐up is paramount to prevent long‐term visual consequences. We describe three cases of congenital cataracts with incongruence in antenatal ultrasound findings and postnatal results. Improvement over time in the diagnostic sensitivity of ultrasound allows for early diagnosis of congenital cataracts, yet there is little published evidence regarding the sensitivity and specificity of ultrasound as a diagnostic modality. As congenital cataracts have significant long‐term implications if left untreated, such as loss of visual capacity and amblyopia, a targeted ultrasound survey should be performed at morphology scans, with a special focus on the orbital region. This should be extended to those with a significant family history of fetal eye abnormalities and severe malformations. Given the high proportion of idiopathic congenital cataracts, the scope of developing other preventative strategies is limited. Early and accurate diagnosis in the antenatal period may be feasible, by thorough examination of the eyes to detect ocular anomalies, especially in high‐risk individuals.
Introduction/Purpose: To evaluate the endometrial thickness (ET) as a predictor of endometrial abnormalities in postmenopausal women and whether consideration of baseline risk factors increases diagnostic accuracy. Methods: This is a retrospective observational study of postmenopausal women presenting with bleeding or thickened endometrium (≥4 mm) on ultrasound, between 2003 and 2012. Risk factors for endometrial abnormality were analysed using logistic regression. Of 301 women, 220 were symptomatic and 81 were asymptomatic. The median ET was 6 mm (IQR 4-9) for symptomatic women and 9 mm (IQR 6-12) for asymptomatic women. Results: Abnormal pathology was found in 35 symptomatic (15.9%) and 6 asymptomatic women (7.4%). For each 1 mm increase in ET, the odds of an abnormal diagnosis increased by 16.3% (95% CI 9.6-23.5) for symptomatic and 19.9% (95% CI 3.1-39.3) for asymptomatic women. The Youden's index method identified an ET threshold of ≥7.1mm for symptomatic and ≥14.5mm for asymptomatic women. In symptomatic women the sensitivity was 88.6% (95% CI 72.3-96.3) and specificity 69.2% (95% CI 61.9-75.6), while in asymptomatic women the sensitivity was 50.0% (95% CI 13.9-86.1) and specificity was 89.3% (95% CI 79.5-95.0). The addition of age in the symptomatic women model reduced the sensitivity (82.9% (95% CI 65.7-92.8)) but increased the specificity (72.4% (95% CI 65.3-78.6)). Conclusion: ET is a significant predictor of abnormality. In the absence of risk factors, our study suggests that invasive procedures may be withheld until the ET is ≥7.1 mm with bleeding and ≥14.5 mm in asymptomatic women with no bleeding.
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