Severe Maternal Morbidity and Postpartum Care: An Investigation Among a Privately Insured Population in the United States, 2008-2019.

This study examines postpartum health care utilization among women with severe maternal morbidity (SMM) subtypes (e.g., blood transfusion, renal), focusing on both early (within 7 days) and late (8-42 days) postpartum periods.

Individual and County-level Factors Associated with Severe Maternal Morbidity at Delivery: An Investigation of a Privately Insured Population in the United States, 2008-2018.

Objective: Few studies have explored the impact of county-level variables on severe maternal morbidity (SMM) subtypes. To address this gap, this study used a large commercial database to examine the associations between individual and county-level factors and SMM.

Study Design: This retrospective cohort study used data from the Optum's de-identified Clinformatics® Data Mart Database (CDM) from 2008 to 2018.

A Qualitative Assessment of Changes in Occupational Exposures Among Healthcare Facility Workers.

Adult-onset asthma, notably prevalent among healthcare professionals, especially nurses, is often attributed to occupational factors such as exposure to cleaning agents. Studies consistently underscore the substantial role of such exposure in work-related asthma among hospital staff. We aimed to (a) identify and characterize current practices in cleaning and aerosolized medication administration; (b) assess changes in practices since a similar 2003 study of Texas healthcare workers; and (c) identify factors contributing to diverse exposures within healthcare job categories.

Cleaning Tasks and Products and Asthma Among Health Care Professionals.

Objective: Health care workers are at risk for work-related asthma, which may be affected by changes in cleaning practices. We examined associations of cleaning tasks and products with work-related asthma in health care workers in 2016, comparing them with prior results from 2003.

Methods: We estimated asthma prevalence by professional group and explored associations of self-reported asthma with job-exposure matrix-based cleaning tasks/products in a representative Texas sample of 9914 physicians, nurses, respiratory/occupational therapists, and nurse aides.

Identifying syndromes in studies of structural birth defects: Guidance on classification and evaluation of potential impact.

Structural birth defects that occur in infants with syndromes may be etiologically distinct from those that occur in infants in whom there is not a recognized pattern of malformations; however, population-based registries often lack the resources to classify syndromic status via case reviews. We developed criteria to systematically identify infants with suspected syndromes, grouped by syndrome type and level of effort required for syndrome classification (e.g.

A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.

Obstructive heart defects (OHDs) share common structural lesions in arteries and cardiac valves, accounting for ~25% of all congenital heart defects. OHDs are highly heritable, resulting from interplay among maternal exposures, genetic susceptibilities, and epigenetic phenomena. A genome-wide association study was conducted in National Birth Defects Prevention Study participants (N  = 3978; N  = 2507), investigating the genetic architecture of OHDs using transmission/disequilibrium tests (TDT) in complete case-parental trios (N  = 440; N  = 275) and case-control analyses separately in infants (N  = 1635; N  = 990) and mothers (case status defined by infant; N  = 1703; N  = 1078).

Gene-Interaction-Sensitive enrichment analysis in congenital heart disease.

Background: Gene set enrichment analysis (GSEA) uses gene-level univariate associations to identify gene set-phenotype associations for hypothesis generation and interpretation. We propose that GSEA can be adapted to incorporate SNP and gene-level interactions. To this end, gene scores are derived by Relief-based feature importance algorithms that efficiently detect both univariate and interaction effects (MultiSURF) or exclusively interaction effects (MultiSURF*).

Maternal effect genes: Update and review of evidence for a link with birth defects.

Maternal effect genes (MEGs) encode factors (e.g., RNA) that are present in the oocyte and required for early embryonic development.

Review of evidence for environmental causes of uveal coloboma.

Uveal coloboma is a condition defined by missing ocular tissues and is a significant cause of childhood blindness. It occurs from a failure of the optic fissure to close during embryonic development and may lead to missing parts of the iris, ciliary body, retina, choroid, and optic nerve. Because there is no treatment for coloboma, efforts have focused on prevention.

Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States.

Conotruncal defects with normally related great vessels (CTD-NRGVs) occur in both patients with and without 22q11.2 deletion syndrome (22q11.2DS), but it is unclear to what extent the genetically complex etiologies of these heart defects may overlap across these two groups, potentially involving variation within and/or outside of the 22q11.

Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects.

There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-set analyses are a useful complement to such studies and candidate gene-set analyses of rare variants have provided insight into the genetics of CHDs.

Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.

Objective: To investigate 2- to 5-way patterns of defects co-occurring with orofacial clefts using data from a population-based registry.

Design: We used data from the Texas Birth Defects Registry for deliveries between 1999 and 2014 to Texas residents, including 1884 cases with cleft palate (CP) and 5289 cases with cleft lip with or without cleft palate (CL±P) without a known syndrome. We identified patterns of defects co-occurring with CP and with CL±P observed more frequently than would be expected if these defects occurred independently.

Patterns of congenital anomalies among individuals with trisomy 13 in Texas.

Few population-based studies have analyzed patterns of co-occurring birth defects among those with trisomy 13. We evaluated the frequency of all possible combinations of any one, two, three, or four additional co-occurring birth defects among 736 individuals with trisomy 13 using data from the Texas Birth Defects Registry for deliveries during 1999-2014. We calculated the observed-to-expected ratio for each combination, adjusting for the known tendency for birth defects to cluster non-specifically.

Severe maternal morbidity at delivery and postpartum readmission in the United States.

Background: Little is known about the extent to which severe maternal morbidity (SMM) at delivery impacts early and late postpartum readmission.

Objectives: We examined readmission rates for women with and without SMM (and their 18 subtypes) at delivery and characterised the most common medical reasons for readmissions.

Methods: We conducted a retrospective cohort study utilising the 2016-2017 Nationwide Readmissions Database among women giving births in the United States.

A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia.

Purpose: Infants with anophthalmia or microphthalmia frequently have co-occurring birth defects. Nonetheless, there have been few investigations of birth defect patterns among these children. Such studies may identify novel multiple malformation syndromes, which could inform future research into the developmental processes that lead to anophthalmia/microphthalmia and assist physicians in determining whether further testing is appropriate.