Abdullah Alnoman

and 4 more

Objectives: Women with Down syndrome (DS) suffer from several health issues, however, their fecundity is not affected. Despite that, there are no studies in the literature to address pregnancy, delivery, or neonatal outcomes among women with DS. Design: We conducted a retrospective study using the Health Care Cost and Utilization Project-Nationwide Inpatient Sample Database over 11 years from 2004 to 2014. Methods: A delivery cohort was created using ICD-9 codes. ICD-9 code 758.0 was used to extract the cases of maternal DS. Pregnant women with DS (study group) were matched based on age and health insurance type to women without DS (control) at a ratio of 1:4. A multivariant logistic regression model was used to adjust for statistically significant variables (P-value < 0.5). Results: There were a total of 9,096,788 deliveries during the study period. Of those, 185 pregnant women were found to have DS. The matched control group was 740. Maternal pregnancy risks mostly did not differ between those with and without DS including pregnancy-induced PIH, gestational diabetes, preeclampsia, PPROM, chorioamnionitis, cesarean section, operative vaginal delivery, or blood transfusion (P >0.05, all). However, they were at extremely increased risk of delivering prematurely (aOR 3.86, 95% CI 1.25-11.93), and to have adverse neonatal outcomes such as small for gestational age (aOR 13.13, 95% CI 2.20-78.41), intrauterine fetal demise (aOR 20.97, 95% CI 1.86-237.02), and congenital anomalies (aOR 9.59, 95% CI 1.47-62.72). Conclusion: Women with DS should be counseled about their increased risk of premature delivery and adverse neonatal outcomes.

Marco Mascarella

and 8 more

Objective: The aim of this study was to ascertain the relationship between Bethesda category and molecular mutation of thyroid nodules in patients undergoing thyroidectomy. Design: A retrospective cohort of patients who underwent thyroidectomy following needle biopsy and molecular profile testing was performed. Setting: Two tertiary care academic hospitals. Participants: Consecutive patients with a dominant thyroid nodule who underwent both USFNA and molecular profile testing followed by thyroidectomy were included in the study. Main Outcome and Measures: The main outcome was postoperative diagnosis of thyroid cancer and aggressivity of disease based on histopathological variants, nodal metastasis or extra-thyroidal extension. Associations between Bethesda category, molecular mutation and postoperative pathology was assessed using descriptive analysis and Chi-square testing. Results: 451 patients were included. 95.9% (93/97) of patients with a BRAFV600E mutation had a Bethesda category V or VI (P<0.001), and all had confirmed thyroid cancer on postoperative pathology. Those with H, K or N RAS or EIF1AX mutations, gene expression profiling (GEP) or copy number alterations showed an association with Bethesda categories III and IV (P≤0.01). Those with no identified molecular mutation had a lower incidence of aggressive thyroid cancer compared to those with an identified mutation (12.6% vs 44.3%, P<0.01). Conclusion: BRAFV600E mutations were associated with thyroid cancer subtypes known to be more aggressive. These findings may help thyroid specialists better identify aggressive thyroid nodules associated with indeterminate Bethesda categories.