Mid-trimester soft markers have been linked with Down syndrome and other aneuploidies. There are many other prenatal screening tests available with better detection rates for Down syndrome than the mid-trimester ultrasound. Many patients confronted with the diagnosis of a soft marker become anxious and may request a diagnostic test (amniocentesis) despite the associated risk of miscarriage. This is also despite the fact that most fetuses with an isolated soft marker are chromosomally normal. The management of a pregnancy with a soft marker must therefore be planned in a manner designed to minimize patient anxiety. Likelihood ratios can be used to modify a patient's 'prior risk' (based on age or prior screening tests) and create a new risk. This calculation may help identify a subset of patients suitable for further investigation. It has been proposed that 'negative' likelihood ratios can be used to reduce a patient's risk if no soft marker is found at a mid-trimester ultrasound. There remain concerns about this approach and further research is required before this approach enters common practice. The published work surrounding the management of thickened nuchal fold, echogenic bowel, shortened femur, shortened humerus, pyelectasis (renal pelvis dilatation) and hypoplastic nasal bone is reviewed. Each soft marker has different associations and individual management plans for each of these soft markers are presented. Although isolated single umbilical artery is not usually considered a soft marker of aneuploidy, a management plan for this common finding is also included.
Introduction: The second trimester ultrasound remains an important screening tool for detecting fetal abnormalities. This pictorial guide for the second trimester ultrasound is designed to assist practitioners to produce a high quality diagnostic survey of the fetus by demonstrating and describing recommended images.
Methods: Each image is discussed in detail and has an associated drawn line diagram to aid in the identification of the important features of that image. There is a description of the salient landmarks and relevant measurements.
Result: The authors hope this article may act as a useful guide to all practitioners performing second trimester ultrasounds.
A 62-year-old woman presented with acute hydrothoraces and ascites. The CA 125 level was greatly elevated and pelvic ultrasound revealed an adnexal mass with solid and cystic components. At surgery a benign pure struma ovarii was diagnosed and following removal of the tumour the patient had immediate and complete resolution of her symptoms. This is the first report of struma ovarii causing both pseudo-Meigs syndrome and a marked elevation of CA 125.
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