The objective of this study was to identify variables that may influence the decision to terminate or continue a pregnancy affected by a chromosome abnormality. We performed a retrospective cohort analysis of 286 pregnancies diagnosed with a chromosome abnormality following genetic counseling and prenatal diagnosis. Data obtained included procedure type, chromosome results, ethnicity, maternal age, use of fertility treatments, and uptake of genetic counseling after results, among other factors. Wilcoxon rank sum test, Fisher's exact test, and univariate and multivariate logistic regression models were used for data analysis. The overall termination rate in this study was 82.9 %. A lower likelihood to terminate was found in pregnancies with a diagnosis of a sex chromosome abnormality (OR 0.05, p < .0001), Filipina race (OR 0.10, p = .03), and uptake of second genetic counseling session (OR 0.05, p < .0001). Prior history of termination was associated with increased likelihood to terminate (OR 8.6, p = .02). Factors revealing no statistically significant association with termination included maternal age, gestational age, clinic site, fetal gender, ultrasound anomalies, reason for referral and who informed the patient. Our data affirm the complexity of the decision making process and reinforce that providers should refrain from making assumptions regarding a patient's likelihood to terminate based on factors such as maternal age, gestational age, type of procedure, or ultrasound.
Our cases and those from the medical literature suggest that couples need to be counseled about the risks of congenital anomalies of a vascular disruptive type in affected fetuses. Furthermore, data from the literature suggests that in utero therapy may not significantly decrease these risks as such anomalies may be present prior to the institution of therapy. In addition, in hydropic infants with vascular disruptive defects, especially in those of Southeast Asian origin, homozygous alpha-thalassemia should be suspected as a likely etiology.
Considering the inadequacy of some antioxidant nutrients in severely obese adolescents, this study aimed to assess the relationship between antioxidant micronutrients status and metabolic syndrome components in metabolically healthy obesity (MHO) and unhealthy obesity (MUO). We performed an observational study in severely obese adolescents (body mass index > 99th percentile) and they were classified into MHO or MUO, according to the criteria adapted for adolescents. Anthropometric, biochemical, and clinical variables were analyzed to characterize the sample of adolescents. The serum antioxidant nutrients assessed were retinol, β-carotene, Vitamin E, Vitamin C, zinc and selenium. A total of 60 adolescents aged 17.31 ± 1.34 years were enrolled. MHO was identified in 23.3% of adolescents. The MHO group showed lower frequency of non-alcoholic fatty liver disease (14.3% vs. 78.3%, p < 0.001) when compared to MUO. A correlation was found between retinol and β-carotene concentrations with glycemia (r = −0.372; p = 0.011 and r = −0.314; p = 0.034, respectively) and between Vitamin E with waist circumference (r = −0.306; p = 0.038) in the MUO group. The current study shows that some antioxidant nutrients status, specifically retinol, β-carotene, and Vitamin E, are negatively associated with metabolic alterations in MUO. Further studies are necessary to determine the existing differences in the serum antioxidant profile of metabolically healthy and unhealthy obese adolescents.
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