Objectives To quantitatively assess prenatal diagnostic performance of three‐dimensional ultrasound (3D‐US) for posterior fossa anomalies (PFA) and establish a preliminarily 3D‐US prediction model. Methods Sixty singleton fetuses suspected of PFA by 2D‐US presented their detailed 3D‐US evaluation. The surface area of vermis (SAV), brainstem‐vermis, and brainstem‐tentorium angles were measured by 3D‐US. The good prognosis was defined as normal neurodevelopmental outcome. MRI and autopsy were the diagnostic reference standard. Results There was a significant difference between 2D‐US (60.0%, 36/60) and 3D‐US (94.8%, 55/58) for the diagnostic accuracy (P < .01). Prenatal 3D‐US prediction model was established with observed/expected SAV as the main predictor (area under the curve [AUC]: 0.901; 95% CI, 0.810‐0.992, P < .001). When it was more than 107.5%, the prognosis seemed to be good (sensitivity: 96.4%, specificity: 26.7%), which led to consideration of mega cisterna magna, Blake pouch cyst, or small arachnoid cyst. The prognosis appeared to be poor when it was less than 73% (sensitivity: 71.4%, specificity: 100%), and the diagnosis tended to be a Dandy‐Walker malformation, vermian hypoplasia, and cerebellar hypoplasia. Brainstem–vermis and brainstem–tentorium angles were the secondary indicators (AUC: 0.689 vs 0.761; 95% CI, 0.541‐0.836 vs 0.624‐0.897, P = .014 vs.001). Conclusions It seems that the exact types of PFA can be effectively diagnosed by quantitative indicators of 3D‐US.

BackgroundVitamin D could be a mediator in the association between tuberculosis (TB) and diabetes mellitus (DM). A large scale multi-center study confirmed that TB patients with DM had significantly lower serum vitamin D level compared with those without DM and reported that DM was a strong independent risk factor for vitamin D deficiency.ObjectivesThis study was undertaken to determine amongst patients with both TB and DM living in different economically defined areas in China: i) their baseline characteristics, ii) their vitamin D status and iii) whether certain baseline characteristics were associated with vitamin D deficiency.MethodsIn DM-TB patients consecutively attending seven clinics or hospitals, we measured 25 hydroxycholecalciferol at the time of registration using electrochemiluminescence in a COBASE 601 Roche analyser by chemiluminescence immunoassay. Data analysis was performed using chi square test and multivariate logistic regression.ResultsThere were 178 DM-TB patients that included 50 from economically well-developed areas, 103 from better-off areas and 25 from a poverty area. Median vitamin D levels in well-developed, better-off and poverty areas were 11.5ng/ml, 12.2ng/ml and 11.5ng/ml respectively. Amongst all patients, 149 (84%) had vitamin D deficiency—91 (51%) with vitamin D deficiency (10–19.9 ng/ml) and 58 (33%) with severe deficiency (< 10 ng/ml). There was a significantly higher proportion with vitamin D deficiency in the poverty area. The adjusted odds of vitamin D deficiency (25-(OH)D3 <20 ng/ml) were significantly higher in those with longer history of DM (P = 0.038) and with HbA1c≥10% (P = 0.003).ConclusionOver 80% of TB patients with DM in China were vitamin D deficient, with risk factors being residence in a poverty area, a long duration of DM and uncontrolled DM. TB programme managers and clinicians need to pay more attention to the vitamin D status of their patients.

ObjectiveThe association between tuberculosis (TB), diabetes mellitus (DM) and vitamin D status is poorly characterised. We therefore: (1) determined vitamin D status in patients with TB in relation to whether they had normal fasting blood glucose (FBG), pre-DM or DM and (2) assessed whether baseline characteristics in patients with TB, including their DM status, were associated with vitamin D deficiency.MethodsIn patients with TB consecutively attending six clinics or hospitals in China, we measured 25-hydroxycholecalciferol (25-(OH)D3) at the time of registration using electrochemiluminescence in a COBASE 601 Roche analyser by chemiluminescence immunoassay. Data analysis was performed using the χ2 test, ORs and multivariate logistic regression.ResultsThere were 306 eligible patients with TB, including 96 with smear positive pulmonary TB, 187 with smear negative pulmonary TB and 23 with extrapulmonary TB. Of these, 95 (31%) had normal blood glucose, 83 (27%) had pre-DM and 128 (42%) had DM. Median serum vitamin D levels were 16.1 ng/mL in patients with TB with normal FBG, 12.6 ng/mL in patients with TB with pre-DM and 12.1 ng/mL in patients with TB with DM (p<0.001). The study highlighted certain baseline characteristics associated with vitamin D deficiency (25-(OH)D3<20 ng/mL). After adjusting for confounders, serum vitamin D deficiency was significantly more common in patients being registered in the cold season (November to April) (p=0.006) and in those with DM (p=0.003).ConclusionVitamin D levels are lower in patients with TB with pre-DM and DM and are also affected by certain baseline characteristics that include being registered in the cold season and having DM. TB programmes need to pay more attention to vitamin D status in their patients, especially if there is coexisting pre-DM or DM.

Rationale:Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin.Patient concerns:We report prenatal phenotypes of 2 rare cases of UPD.Diagnoses:The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy–Walker malformation and congenital heart defects. The prenatal phenotype of Case 2 are sonographic markers, including enlarged NT, thickened nuchal fold, ascites, and polyhydramnios without apparent structural malformations.Interventions:Conventional G-band karyotype appears normal in case 1, while it shows normal chromosomes with a small supernumerary marker chromosome (sSMC) in case 2. Genetic etiology was left unknown until single-nucleotide polymorphism-based array (SNP-array) was performed, and segmental paternal UPD 22 was identified in case 1 and segmental paternal UPD 14 was found in case 2.Outcomes:The parents of case 1 chose termination of pregnancy. The neonate of case 2 was born prematurely with a bellshaped small thorax and died within a day.Lessons:UPD cases are rare and the phenotypes are different, which depend on the origin and affected chromosomal part. If a fetus shows multiple anomalies that cannot be attributed to a common aneuploidy or a genetic syndrome, or manifests some features possibly related to an UPD syndrome, such as detection of sSMC, SNP-array should be considered.