IntroductionSeveral adipokines are implicated in the pathophysiology of gestational diabetes mellitus (GDM), however, longitudinal data in early pregnancy on many adipokines are lacking. We prospectively investigated the association of a panel of adipokines in early and mid-pregnancy with GDM risk.Research design and methodsWithin the National Institute of Child Health and Human Development (NICHD) Fetal Growth Studies-Singletons cohort (n=2802), a panel of 10 adipokines (plasma fatty acid binding protein-4 (FABP4), chemerin, interleukin-6 (IL-6), leptin, soluble leptin receptor (sOB-R), adiponectin, omentin-1, vaspin, and retinol binding protein-4) were measured at gestational weeks (GWs) 10–14, 15–26, 23–31, and 33–39 among 107 GDM cases (ascertained on average at GW 27) and 214 non-GDM controls. Conditional logistic regression was used to estimate ORs of each adipokine and GDM, controlling for known GDM risk factors including pre-pregnancy body mass index.ResultsThroughout pregnancy changes in chemerin, sOB-R, adiponectin, and high-molecular-weight adiponectin (HMW-adiponectin) concentrations from 10–14 to 15–26 GWs were significantly different among GDM cases compared with non-GDM controls. In early and mid-pregnancy, FABP4, chemerin, IL-6 and leptin were positively associated with increased GDM risk. For instance, at 10–14 GWs, the OR comparing the highest versus lowest quartile (ORQ4–Q1) of FABP4 was 3.79 (95% CI 1.63 to 8.85). In contrast, in both early and mid-pregnancy adiponectin (eg, ORQ4–Q1 0.14 (0.05, 0.34) during 10–14 GWs) and sOB-R (ORQ4–Q1 0.23 (0.11, 0.50) during 10–14 GWs) were inversely related to GDM risk. At 10–14 GWs a model that included conventional GDM risk factors and FABP4, chemerin, sOB-R, and HMW-adiponectin improved the estimated prediction (area under the curve) from 0.71 (95% CI 0.66 to 0.77) to 0.77 (95% CI 0.72 to 0.82).ConclusionsA panel of understudied adipokines including FABP4, chemerin, and sOB-R may be implicated in the pathogenesis of GDM with significant associations detected approximately 10–18 weeks before typical GDM screening.
Background Congenital ventricular diverticulum is a rare abnormality that may occur as an isolated malformation. Most cases are accompanied by pericardial effusion. Prenatal counseling can be difficult because the prognosis is uncertain and there is no consensus approach to prenatal management. Case presentation: We describe a case of congenital cardiac diverticulum complicated by large pericardial effusion in one of monochorionic diamniotic twins. The case was diagnosed by ultrasonography at 21 weeks of gestation. Therapeutic pericardiocentesis at 22 weeks resulted in complete resolution of the effusion and led to a favorable fetal outcome. We summarize the interventions and pregnancy outcomes in cases of cardiac diverticula reported in the literature. Conclusions Better awareness of clinical features, in utero therapies, and pregnancy outcomes could help define and improve prenatal management of congenital ventricular diverticula.
Background: Emerging evidence suggests that vitamin D status in pregnancy may be associated with the development of gestational diabetes (GDM). However, the temporal relationship remains unclear due to the lack of prospective data with serial measurements of maternal vitamin D levels. We prospectively examined longitudinal changes in vitamin D biomarkers in relation to subsequent GDM risk. Methods: A nested case-control study of 107 GDM cases and 214 controls (matched on age, race/ethnicity, and gestational week (GW) at blood draw) was conducted within the NICHD Fetal Growth Studies-Singleton Cohort (2009-2013). Plasma concentrations of D2 and D3 25-hydroxyvitamin D (25(OH)D) and vitamin D binding protein were measured at GWs 10-14, 15-26, 23-31, and 33-39; we further calculated total, free, and bioavailable 25(OH)D. Linear mixed-effects models and conditional logistic regression models were used adjusting for confounders. Results: Compared with controls, women who developed GDM appeared to have lower concentrations of total 25(OH)D as early as GWs 10-14 (median: 25.59 vs. 27.46 ng/mL) and had a greater longitudinal increase in total 25(OH)D levels from GWs 10-14 to 15-26 (LS mean difference in log-scale: 0.10 vs. 0.04, p=0.046). We found no linear associations between vitamin D biomarkers at GWs 10-14 or GWs 15-26 and GDM risk. However, vitamin D deficiency (<20 ng/mL) at GWs 10-14 was associated with a 2.82-fold increased GDM risk (adjusted OR=2.82, 95% CI: 1.15-6.93). Furthermore, women with persistent vitamin D deficiency at both weeks 10-14 and weeks 15-26 had more than 4-fold elevated risk for GDM compared to those persistently non-deficient (adjusted OR=4.46, 95% CI: 1.15-17.3). Conclusions: Our findings suggest that maternal vitamin D deficiency in the first trimester of pregnancy may be implicated in the development of GDM. Assessment of vitamin D status in early pregnancy may be clinically important and valuable for the primary prevention of GDM. Disclosure J. Xia: None. Y. Song: None. S. Rawal: None. J. Wu: None. S. Hinkle: None. M.Y. Tsai: None. C. Zhang: None.
Previous studies on circulating monounsaturated fatty acids (MUFAs) and the risk of gestational diabetes (GDM) are limited although MUFAs have been implicated outside of pregnancy in glucose homeostasis. The aim of this study was to prospectively investigate levels of total and individual MUFAs (16:1n-7c, 18:1n-9, 20:1n-9, 24:1n-9) in plasma phospholipids in relation to risk of GDM. This was a case-control study nested in the NICHD Fetal Growth Studies-Singletons (2009-2013), a prospective study of 2,802 low risk pregnant women. A total of 107 GDM cases were ascertained using the Carpenter and Coustan criteria, and 214 non-GDM controls were selected on a 1:2 ratio and individually matched on age, race/ethnicity, and gestational week (GW) of blood collection. Blood samples were collected at GW 10-14, 15-26, 23-31 and 33-39. Spearman’s correlation coefficient was used to assess the association of circulating MUFAs with indices of glucose homeostasis (e.g., insulin, C-peptide, and HOMA-IR). Conditional logistic regression models adjusted for risk factors of GDM including pre-pregnancy BMI were used to assess the associations of circulating MUFAs with subsequent GDM risk. Total MUFAs (p=0.015) and 18:1n-9 (p=0.012) were significantly lower in GDM cases than controls at GW 15-26. 16:1n-7c was significantly higher in GDM cases than controls at GW 10-14 (p=0.008) and 15-26 (p=0.048). Total MUFAs and 18:1n-9 at GW 15-26 were significantly associated with a lower GDM risk; the adjusted ORs (95% CIs) comparing highest vs. lowest quartiles were 0.15 (0.05-0.44) and 0.14 (0.05-0.45), respectively. Total MUFAs and 18:1n-9 at GW10-14 were inversely correlated with insulin, HOMA-IR, c-peptide at GW 15-26. No significant associations were observed for other individual MUFAs at GW 10-14 or 15-26 with GDM risk. In conclusion, higher plasma concentrations of MUFAs, especially 18:1n-9, at GW 15-26 were prospectively related to a reduced risk of GDM. Disclosure K. Tsoi: None. Y. Zhu: None. J. Wu: None. Q. Sun: Consultant; Self; Emavant Solutions GmbH. M. Li: None. S. Hinkle: None. A. Ajjarapu: None. R.C. Ma: Advisory Panel; Self; Boehringer Ingelheim International GmbH. Research Support; Self; AstraZeneca, Bayer AG, Pfizer Inc. Stock/Shareholder; Self; GemVCare. Other Relationship; Self; AstraZeneca. C. Zhang: None. Funding Eunice Kennedy Shriver National Institute of Child Health and Human Development; American Recovery and Reinvestment Act (HHSN275200800013C, HHSN275200800002I, HHSN27500006, HHSN275200800003IC, HHSN275200800014C, HHSN275200800012C, HHSN275200800028C, HHSN275201000009C, HHSN275201000001Z)
ObjectiveTo share our experience on prenatal diagnosis of Williams-Beuren syndrome(WBS) and to improve the awareness, diagnosis, and intrauterine monitoring of the fetuses of this disease.MethodsThe study retrospectively evaluated 14 cases of WBS diagnosed prenatally by single nucleotide polymorphism array (SNP-array). Clinical data from these cases were systematically reviewed, including maternal demographics, indications for invasive prenatal diagnosis, ultrasound findings, SNP-array results, trio-medical exome sequencing (Trio-MES) results, QF-PCR results, pregnancy outcomes and follow-ups.ResultsA total of 14 fetuses were diagnosed with WBS and their prenatal phenotypes were assessed retrospectively. In our case series, the most common ultrasound features were intrauterine growth retardation (IUGR), congenital cardiovascular defects, abnormal fetal placental doppler indices, thickened nuchal translucency(NT) and polyhydramnios. Other less common ultrasound features include fetal hydrops, hydroderma, bilateral pleural effusion, subependymal cysts, etc. Parental chromosome analysis was performed in seven pairs of parents, and all the deletions on chromosome 7q11.23 were de novo.ConclusionPrenatal ultrasound features of WBS cases are highly variable, with IUGR, cardiovascular abnormalities and abnormal fetal placental doppler indices, being the most common intrauterine phenotypes. Our case series expand the intrauterine phenotypes of WBS, including cardiovascular abnormalities right aortic arch(RAA) combined with persistent right umbilical vein(PRUV) and elevated the ratio of end-systolic peak flow velocity to end-diastonic peak flow velocity(S/D). In the meantime, with the decrease in the cost of the next-generation sequencing, the method may become widely used in prenatal diagnosis in the near future.
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