In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency

Mucopolysaccharidosis type VII was diagnosed prenatally during the first pregnancy of a Turkish consanguineous couple, following diagnostic work-up of an increased nuchal translucency detected by ultrasound at 13 weeks of gestation. Mucopolysaccharidosis type VII (MPS VII) or Sly syndrome is a rare autosomal recessive lysosomal storage disease, caused by the deficiency of the enzyme β-glucuronidase. The most severe form of MPS VII manifests itself by non-immune fetal hydrops. Tests for the diagnosis of metabolic disorders, especially lysosomal diseases, are essential when the major causes of hydrops fetalis have been excluded. The presence of a β-glucosidase deficiency, Gaucher's disease, in the infant of the patient's sister emphasizes the importance of a complete family history in consanguineous couples and the risk for several recessive diseases in some families

First-trimester detection of surface abnormalities: A comparison of 2- and 3-dimensional ultrasound and 3-dimensional virtual reality ultrasound

The aim was to determine the diagnostic performance of 3-dimensional virtual reality ultrasound (3D-VR-US) and conventional 2- and 3-dimensional ultrasound (2D/3D-US) for first-trimester detection of structural abnormalities. Forty-eight first trimester cases (gold standard available, 22 normal, 26 abnormal) were evaluated offline using both techniques by 5 experienced, blinded sonographers. In each case, we analyzed whether each organ category was correctly indicated as normal or abnormal and whether the specific diagnosis was correctly made. Sensitivity in terms of normal or abnormal was comparable for both techniques (P =.24). The general sensitivity for specific diagnoses was 62.6% using 3D-VR-US and 52.2% using 2D/3D-US (P =.075). The 3D-VR-US more often correctly diagnosed skeleton/limb malformations (36.7% vs 10%; P =.013). Mean evaluation time in 3D-VR-US was 4:24 minutes and in 2D/3D-US 2:53 minutes (P <.001). General diagnostic performance of 3D-VR-US and 2D/3D-US apparently is comparable. Malformations of skeleton and limbs are more often detected using 3D-VR-US. Evaluation time is longer in 3D-VR-US