The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy.

Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical for clinical application. Aim: This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. Materials & methods: A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. Results: Chromosomal aberrations were found in 448 (11.86%) women. Of these, 274 (7.26%) had chromosomal aneuploidies and 174 (4.61%) carried pathogenic/likely pathogenic CNVs. Correlations were established between chromosomal aberrations and various phenotypic markers. Conclusion: This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies.

De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series.

Background: Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the clinical and genetic features of cases identified by NIPT-SGG. Materials & methods: In a cohort pregnancy with abnormal sonograms, affected cases were confirmed by invasive diagnostic tests concurrently, with NIPT-SGG targeting 25 common dominant single-gene diseases. Results: A total of 13 single-gene fetuses were confirmed, including Noonan and Costello syndromes, thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta and Apert syndrome. Two novel variants seen were tuberous sclerosis complex (TSC2 c.4154G>A) and Alagille syndrome (JAG1 c.3452del). Conclusion: NIPT-SGG and standard tests agree on the results for 13 fetuses with monogenic disorders. This panel method of screening can benefit high-risk Vietnamese pregnancies, but further research is encouraged to expand on the causative gene panel.

Developing and validating noninvasive prenatal testing for de novo autosomal dominant monogenic diseases in Vietnam.

Background: Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions. Methods: NIPT-SGG with a 30-gene panel applied next-generation sequencing and trio assays to confirm de novo variants. Diagnostic tests confirmed NIPT-detected cases. Results: Among 93 pregnancies with ultrasound findings, 11 (11.8%) fetuses were screened and diagnosed with monogenic diseases, mostly with Noonan syndrome. NIPT-SGG determined >99.99% of actual positive and negative cases, confirmed by diagnostic tests. No false-negatives or false-positives were reported. Conclusion: NIPT-SGG effectively identifies the fetuses affected with monogenic diseases, which is a promisingly safe and timely antenatal screening option for high-risk pregnancies.

High prevalence of maternal mosaic monosomy X in pregnant women in Vietnam.

OBJECTIVE: To demonstrate the prevalence of maternal mosaic monosomy X (MMXO) in a cohort of pregnant women in Vietnam. METHODS: All 105,594 singleton pregnant women undergoing noninvasive prenatal screening (NIPS) between January 2019 and February 2021 in Vietnam were analyzed by measuring discordance between size- and count-based z-scores for chromosome X (ChrX) to identify suspected cases of MMXO and validated by fluorescence in situ hybridization (FISH) on maternal blood. RESULTS: We identified 295 (0.279%) suspected MMXO cases. After FISH analysis, MMXO was confirmed in 125 cases (42.37%), revealing the MMXO prevalence of 0.118% (95% CI: 0.097-0.139%) in this cohort. CONCLUSION: We found a relatively high prevalence of MMXO in Vietnamese pregnant women and demonstrated a strong influence of MMXO on the ChrX z-score using a count-based method, resulting in false positives. The size-based method is not sensitive to MMXO and therefore achieves higher PPV.

Geographic disparities and determinants of COVID-19 incidence risk in the greater St. Louis Area, Missouri (United States).

BACKGROUND: Evidence seems to suggest that the risk of Coronavirus Disease 2019 (COVID-19) might vary across communities due to differences in population characteristics and movement patterns. However, little is known about these differences in the greater St Louis Area of Missouri and yet this information is useful for targeting control efforts. Therefore, the objectives of this study were to investigate (a) geographic disparities of COVID-19 risk and (b) associations between COVID-19 risk and socioeconomic, demographic, movement and chronic disease factors in the Greater St. Louis Area of Missouri, USA. METHODS: Data on COVID-19 incidence and chronic disease hospitalizations were obtained from the Department of Health and Missouri Hospital Association, respectively. Socioeconomic and demographic data were obtained from the 2018 American Community Survey while population mobility data were obtained from the SafeGraph website. Choropleth maps were used to identify geographic disparities of COVID-19 risk and several sociodemographic and chronic disease factors at the ZIP Code Tabulation Area (ZCTA) spatial scale. Global negative binomial and local geographically weighted negative binomial models were used to investigate associations between ZCTA-level COVID-19 risk and socioeconomic, demographic and chronic disease factors. RESULTS: There were geographic disparities found in COVID-19 risk. Risks tended to be higher in ZCTAs with high percentages of the population with a bachelor's degree (p<0.0001) and obesity hospitalizations (p<0.0001). Conversely, risks tended to be lower in ZCTAs with high percentages of the population working in agriculture (p<0.0001). However, the association between agricultural occupation and COVID-19 risk was modified by per capita between ZCTA visits. Areas that had both high per capita between ZCTA visits and high percentages of the population employed in agriculture had high COVID-19 risks. The strength of association between agricultural occupation and COVID-19 risk varied by geographic location. CONCLUSIONS: Geographic disparities of COVID-19 risk exist in the St. Louis area and are associated with sociodemographic factors, population movements, and obesity hospitalization risks. The latter is particularly concerning due to the growing prevalence of obesity and the known immunological impairments among obese individuals. Therefore, future studies need to focus on improving our understanding of the relationships between COVID-19 vaccination efficacy, obesity and waning of immunity among obese individuals so as to better guide vaccination regimens and reduce disparities.

Geographic disparities and predictors of COVID-19 hospitalization risks in the St. Louis Area, Missouri (USA).

BACKGROUND: There is evidence of geographic disparities in COVID-19 hospitalization risks that, if identified, could guide control efforts. Therefore, the objective of this study was to investigate Zip Code Tabulation Area (ZCTA)-level geographic disparities and identify predictors of COVID-19 hospitalization risks in the St. Louis area. METHODS: Hospitalization data for COVID-19 and several chronic diseases were obtained from the Missouri Hospital Association. ZCTA-level data on socioeconomic and demographic factors were obtained from the American Community Survey. Geographic disparities in distribution of COVID-19 age-adjusted hospitalization risks, socioeconomic and demographic factors as well as chronic disease risks were investigated using choropleth maps. Predictors of ZCTA-level COVID-19 hospitalization risks were investigated using global negative binomial and local geographically weighted negative binomial models. RESULTS: COVID-19 hospitalization risks were significantly higher in ZCTAs with high diabetes hospitalization risks (p < 0.0001), COVID-19 risks (p < 0.0001), black population (p = 0.0416), and populations with some college education (p = 0.0005). The associations between COVID-19 hospitalization risks and the first three predictors varied by geographic location. CONCLUSIONS: There is evidence of geographic disparities in COVID-19 hospitalization risks that are driven by differences in socioeconomic, demographic and health-related factors. The impacts of these factors vary by geographical location implying that a 'one-size-fits-all' approach may not be appropriate for management and control. Using both global and local models leads to a better understanding of geographic disparities. These findings are useful for informing health planning to identify geographic areas likely to have high numbers of individuals needing hospitalization as well as guiding vaccination efforts.

Disrupted and Restored Patient Experience With Transition to New Electronic Health Record System.

Transitioning from one electronic health record (EHR) system to another is of the most disruptive events in health care and research about its impact on patient experience for inpatient is limited. This study aimed to assess the impact of transitioning EHR on patient experience measured by the Hospital Consumer Assessment of Healthcare Providers and Systems composites and global items. An interrupted time series study was conducted to evaluate quarter-specific changes in patient experience following implementation of a new EHR at a Midwest health care system during 2017 to 2018. First quarter post-implementation was associated with statistically significant decreases in Communication with Nurses (-1.82; 95% CI, -3.22 to -0.43; P = .0101), Responsiveness of Hospital Staff (-2.73; 95% CI, -4.90 to -0.57; P = .0131), Care Transition (-2.01; 95% CI, -3.96 to -0.07; P = .0426), and Recommend the Hospital (-2.42; 95% CI, -4.36 to -0.49; P = .0142). No statistically significant changes were observed in the transition, second, or third quarters post-implementation. Patient experience scores returned to baseline level after two quarters and the impact from EHR transition appeared to be temporary.

Pregnancy Outcomes after Preeclampsia: The Effects of Interpregnancy Weight Change.

OBJECTIVE: This study aimed to examine the effects of interpregnancy weight change on pregnancy outcomes, including recurrent preeclampsia, preterm birth, small-for-gestational age (SGA), large-for-gestational age (LGA), and cesarean delivery, among women with a history of preeclampsia. We also evaluated whether these associations were modified by prepregnancy body mass index (BMI) category in the first pregnancy (BMI < 25 vs. ≥25 kg/m2) and if associations were present among women who maintained a healthy BMI category in both pregnancies. STUDY DESIGN: We conducted a population-based retrospective cohort study including 15,108 women who delivered their first two nonanomalous singleton live births in Missouri (1989-2005) and experienced preeclampsia in the first pregnancy. We performed Poisson regression with robust error variance to estimate relative risks and 95% confidence intervals for outcomes of interest after controlling for potential confounders. RESULTS: Interpregnancy weight gain was associated with increased risk of recurrent preeclampsia, LGA, and cesarean delivery. These risks increased in a "dose-response" manner with increasing magnitude of interpregnancy weight gain and were generally more pronounced among women who were underweight or normal weight in the first pregnancy. Interpregnancy weight loss exceeding 1 BMI unit was associated with increased risk of SGA among underweight and normal weight women, while interpregnancy weight loss exceeding 2 BMI units was associated with reduced risk of recurrent preeclampsia among overweight and obese women. CONCLUSION: Even small changes in interpregnancy weight may significantly affect pregnancy outcomes among formerly preeclamptic women. Appropriate weight management between pregnancies has the potential to attenuate such risks. KEY POINTS: · Interpregnancy weight change among formerly preeclamptic women significantly affects pregnancy outcomes.. · Interpregnancy weight gain is associated with increased risk of recurrent preeclampsia, large-for-gestational-age and cesarean delivery.. · Interpregnancy weight loss is associated with increased risk of small-for-gestational age and recurrent preeclampsia..

Effect of interpregnancy interval after a first pregnancy complicated by placental abruption, on adverse maternal and fetal outcomes in a second pregnancy.

Background: For women who suffer from abruption in the first pregnancy, the extent to which birth spacing has an impact on maternal and fetal outcomes in a second pregnancy remains unclear.Objectives: To examine the effect of interpregnancy interval (IPI) after a first pregnancy complicated by placental abruption, on adverse maternal and fetal outcomes in a subsequent pregnancy.Study design: This was a population-based retrospective cohort study using maternally-linked Missouri birth registry from 1989 to 2005 (n = 2069). Exposure of interest was IPI and outcomes were placental abruption, preeclampsia, preterm birth, small for gestational age, cesarean delivery, and neonatal plus fetal deaths (neofetal death) in a second pregnancy. Logistic regressions were used to assess the association between IPI and the outcomes.Results: Compared with women with an IPI of 1-2 years, those with short IPI (<1 year) were more likely to experience preterm birth (aOR 3.01, 95% CI 1.71-5.28) and neonatal death (aOR 3.52, 95% CI 1.24-10.02) in their subsequent pregnancy. No significant associations between IPI and recurrent placental abruption or preeclampsia were detected.Conclusions: Women who become pregnant in less than a year's time of an initial placental abruption are at increased risk for preterm birth and neofetal death in a subsequent pregnancy. Other ischemic placental disease conditions are also shown to have serious health implications for a woman's next pregnancy.

Racial disparities in U.S. maternal influenza vaccine uptake: Results from analysis of Pregnancy Risk Assessment Monitoring System (PRAMS) data, 2012-2015.

BACKGROUND: Pregnant women are at increased risk of hospitalization, serious complications, poor pregnancy outcomes, and mortality from influenza. Prior research suggests that there are racial/ethnic disparities in vaccination coverage and that a healthcare provider vaccination recommendation is associated with significantly higher vaccine uptake than without such a recommendation. The purpose of this study is to examine racial/ethnic disparities in healthcare providers' recommendations for pregnant women to receive the influenza vaccine and in vaccine uptake. METHODS: This cross-sectional population-based study analyzed data from the Centers for Disease Control and Prevention's Pregnancy Risk Assessment Monitoring System (PRAMS) during 2012-2015 (n = 130161). Both healthcare provider recommendation and vaccine uptake were assessed dichotomously. Logistic regression was conducted to ascertain adjusted odds ratios and 95% confidence intervals, controlling for maternal age, marital status, education, prenatal care utilization, and smoking status. RESULTS: Influenza vaccine uptake during pregnancy ranged from 39.1% among non-Hispanic (NH) Black women to 55.4% among NH Asian women. In the adjusted analysis, NH Black and NH Asian women had 19% (95% CI 0.75-0.86) and 34% (95% CI 0.61-0.72) decreased odds of receiving a provider recommendation for influenza vaccine during pregnancy, respectively, compared to NH White women. For influenza vaccine uptake, NH Black women were 30% less likely (95% CI 0.65-0.74) to receive influenza vaccine during pregnancy compared to NH White women. CONCLUSIONS: Our findings indicate that there are racial/ethnic disparities in healthcare provider recommendation and influenza vaccine uptake among pregnant women in the United States. Targeted efforts toward providers and interventions focusing on pregnant women may be warranted to reduce the disparity.

A Cluster of Cefepime-induced Neutropenia During Outpatient Parenteral Antimicrobial Therapy.

A cluster of cefepime-induced neutropenia (CIN) was identified from June 2017 to May 2018 in a regional outpatient parenteral antimicrobial therapy population. Our data suggest prolonged courses of cefepime (≥2 weeks), administered by rapid intravenous push, were associated with a higher risk of CIN.