Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders

The ability to screen newborns for a larger number of disorders, including many with variable phenotypes, is prompting debate regarding the psychosocial impact of expanded newborn bloodspot screening (NBS) on parents. This study compares psychological outcomes of parents of children with a range of NBS/diagnostic experiences, with a particular focus on lysosomal storage disorders (LSDs) and X-linked adrenoleukodystrophy (X-ALD) as representative disorders with complex presentations. An online cross-sectional survey with six domains was completed in 2019 by a volunteer sample of parents with at least one child born between 2013 and 2018. Parents were classified in the analysis stage into four groups based on their child’s rare disorder and means of diagnosis. Stress and depression were estimated using dichotomous measures of the depression subscale of the Hospital Anxiety and Depression Scale and the Parental Stress Scale. Logistic regression models were estimated for the relationship between the parent group and stress/depression, controlling for demographic variables (region of the US, income, education, major life events, relationship to the child, number of children, parent age, and race/ethnicity). One hundred seventy-four parents were included in this analysis. Parents of children with an LSD or X-ALD diagnosis clinically may have higher odds of depression (OR: 6.06, 95% CI: 1.64–24.96) compared to parents of children with the same disorders identified through NBS, controlling for covariates. Although a similar pattern was observed for parental stress (OR: 2.85, 95% CI: 0.82–10.37), this did not reach statistical significance. Ethically expanding NBS and genome sequencing require an understanding of the impacts of early detection for complex disorders on families. These initial findings are reassuring, and may have implications as NBS expands. Given our small sample size, it is difficult to generalize these findings to all families. These preliminary trends warrant further investigation in larger and more diverse populations

Racism in obstetric care: a psychometric study of the Gendered Racial Microaggressions Scale among Global Majority birthing people in obstetric contexts

Abstract In the United States, maternal health inequities disproportionately affect Global Majority (e.g., Asian, Black, and Hispanic) populations. Despite a substantial body of research underscoring the influence of racism on these inequities, little research has examined how experiences of gendered racial microaggressions during pregnancy and birth impact racially and ethnically diverse Global Majority pregnant and birthing people in obstetric hospital settings. We evaluated the psychometric properties of an adapted version of Lewis & Neville’s Gendered Racial Microaggressions Scale, using data collected from 417 Global Majority birthing people. Findings from our study indicate that our adapted GRMS is a valid tool for assessing the experiences of gendered racial microaggressions in hospital-based obstetric care settings among Global Majority pregnant and birthing people whose preferred languages are English or Spanish. Item Response Theory (IRT) analysis demonstrated high construct validity of the adapted GRMS scale (Root Mean Square Error of Approximation = 0.1089 (95% CI 0.0921, 0.1263), Comparative Fit Index = 0.977, Standardized Root Mean Square Residual = 0.075, log-likelihood c2 = -85.6, df = 8). IRT analyses demonstrated that the unidimensional model was preferred to the bi-dimensional model as it was more interpretable, had lower AIC and BIC, and all items had large discrimination parameters onto a single factor (all discrimination parameters > 3.0). Given that we found similar response profiles among Black and Hispanic respondents, our Differential Item Functioning analyses support validity among Black, Hispanic, and Spanish-speaking birthing people. Inter-item correlations demonstrated adequate scale reliability, α = 0.97, and empirical reliability = 0.67. Pearsons correlations was used to assess the criterion validity of our adapted scale. Our scale’s total score was significantly and positively related to postpartum depression and anxiety. Researchers and practitioners should seek to address instances of gendered racial microaggressions in obstetric settings, as they are manifestations of systemic and interpersonal racism, and impact postpartum health

SARS-CoV-2 infection, inflammation and birth outcomes in a prospective NYC pregnancy cohort

Associations between antenatal SARS-CoV-2 infection and pregnancy outcomes have been conflicting and the role of the immune system is currently unclear. This prospective cohort study investigated the interaction of antenatal SARS-CoV-2 infection, changes in cytokine and HS-CRP levels, birthweight and gestational age at birth. 2352 pregnant participants from New York City (2020–2022) were included. Plasma levels of interleukin (IL)-1β, IL-6, IL-17A and high-sensitivity C-reactive protein (HS-CRP) were quantified in blood specimens obtained across pregnancy. Quantile and linear regression models were conducted to 1) assess the impact of antenatal SARS-CoV-2 infection, overall and by timing of detection of SARS-CoV-2 positivity (&lt; 20 weeks versus ≥ 20 weeks), on birthweight and gestational age at delivery; 2) examine the relationship between SARS-CoV-2 infection and maternal immune changes during pregnancy. All models were adjusted for maternal demographic and obstetric factors and pandemic timing. Birthweight models were additionally adjusted for gestational age at delivery and fetal sex. Immune marker models were also adjusted for gestational age at specimen collection and multiplex assay batch. 371 (15.8%) participants were infected with SARS-CoV-2 during pregnancy, of which 98 (26.4%) were infected at &lt; 20 weeks gestation. Neither SARS-CoV-2 infection in general nor in early or late pregnancy was associated with lower birthweight nor earlier gestational age at delivery. Further, we did not observe cytokine or HS-CRP changes in response to SARS-CoV-2 infection and thus found no evidence to support a potential association between immune dysregulation and the diversity in pregnancy outcomes following infection.</p

ScreenPlus: A comprehensive, multi-disorder newborn screening program

The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to be effective. Pilot newborn screening (NBS) studies are a way to gather objective evidence about the feasibility and utility of screening, the accuracy of screening assays, and the incidence of disease. They are also an optimal way to evaluate the complex ethical, legal and social implications (ELSI) that accompany NBS expansion for disorders. ScreenPlus is a consented pilot NBS program that aims to enroll over 100,000 infants across New York City. The initial ScreenPlus panel includes 14 disorders and uses an analyte-based, multi-tiered screening platform in an effort to enhance screening accuracy. Infants who receive an abnormal result are referred to a ScreenPlus provider for confirmatory testing, management, and therapy as needed, along with longitudinal capture of outcome data. Participation in ScreenPlus requires parental consent, which is obtained in active and passive manners. Patient-facing documents are translated into the ten most common languages spoken at our nine pilot hospitals, all of which serve diverse communities. At the time of consent, parents are invited to receive a series of online surveys to capture their opinions about specific ELSI-related topics, such as NBS policy, residual dried blood spot retention, and the types of disorders that should be on NBS panels. ScreenPlus has developed a stakeholder-based, collective funding model that includes federal support in addition to funding from 14 advocacy and industry sponsors, all of which have a particular interest in NBS for at least one of the ScreenPlus disorders. Taken together, ScreenPlus is a model, multi-sponsored pilot NBS program that will provide critical data about NBS for a broad panel of disorders, while gathering key stakeholder opinions to help guide ethically sensitive decision-making about NBS expansion