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Last Posted: Apr 11, 2024
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Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study
A Paul et al, IJNS, February 2024

From the abstract: "We studied infants referred for diagnosis after screening between January 2018 and December 2021. Their medical history and neonatal hearing risk factors were assessed. Associations between factors were also analyzed. Sixty-six infants were included. A family history of deafness (47%), syndromic deafness (41%), intrauterine growth retardation or prematurity (19.7%), and prolonged NICU admission (18%) were the most observed factors. When analyzing according to these associations, family history of deafness and syndromic cases remained the most prevalent factors (74%), while only five cases (7.8%) presented with other neonatal risk factors only. The majority of congenital hearing loss cases are observed in infants with suspected genetic deafness. "

Mediating Factors in the Association of Maternal Educational Level With Pregnancy Outcomes: A Mendelian Randomization Study.
Tormod Rogne et al. JAMA Netw Open 2024 1 (1) e2351166

From the abstract: " Which pathways mediate the inequity in pregnancy health associated with low educational attainment? In this cohort study of more than 3 million individuals, an association between genetically estimated lower educational attainment and increased risk of ectopic pregnancy, hyperemesis gravidarum, gestational diabetes, preeclampsia, preterm birth, and offspring low birth weight was observed. A sizeable portion of these associations were explained by targetable risk factors. These findings suggest that the association of socioeconomic inequalities with adverse pregnancy outcomes may be reduced by intervening for type 2 diabetes, body mass index, smoking, high-density lipoprotein cholesterol level, and systolic blood pressure."

Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population
A Gaviglio et al, IJNS, December 2023

From the abstract: " Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) by measurement of T-cell receptor excision circles (TRECs) successfully identifies newborns with SCID and severe T-cell lymphopenia, as intended. At the same time, NBS programs face the challenge of false positive results, with a disproportionately high number in the premature newborn population. This study evaluates TREC values and SCID screening outcomes in premature newborns and elucidates evidence-based SCID screening practices that reduce unnecessary follow-up activities in this population."

Deep representation learning identifies associations between physical activity and sleep patterns during pregnancy and prematurity.
Neal G Ravindra et al. NPJ Digit Med 2023 9 (1) 171

From the abstract: "In this study, we use physical activity data collected using a wearable device comprising over 181,944?h of data across N?=?1083 patients. Using a new state-of-the art deep learning time-series classification architecture, we develop a ‘clock’ of healthy dynamics during pregnancy by using gestational age (GA) as a surrogate for progression of pregnancy. We also develop novel interpretability algorithms that integrate unsupervised clustering, model error analysis, feature attribution, and automated actigraphy analysis, allowing for model interpretation with respect to sleep, activity, and clinical variables. "

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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