Ceri, A., and M. D. Keskin. 2025. “Equity in Early Life: Advancing Environmental Justice for Maternal and Child Health.” Birth Defects Research 117: e2448. https://doi.org/10.1002/bdr2.2448.
In the originally published article, author Doğukan Mustafa Keskin's name was incorrectly given as Dogukan Keskin.
We apologize for this error.
Increasing evidence is accumulating regarding the effects of climate change on human health. In 2021, the World Health Organization (WHO) identified six exposure pathways through which climate change might affect health: extreme weather events; heat stress; air quality; food safety and security; water quality and quantity; and vector distribution and ecology. We sought to evaluate the climate change-related effects through these pathways on the health of pregnant persons and neonates.
Individual PubMed searches were tailored for each WHO climate change exposure pathway based on the quality and quantity of evidence. Searches for heat stress, air quality, food safety and security, and vector distribution and ecology included systematic reviews only, while those for the remaining exposure pathways included broader quantitative study parameters.
Evidence links heat stress, air quality, and vector distribution and ecology to several adverse maternal and neonatal outcomes. While evidence regarding extreme weather events, food safety and security, and water quality and quantity also shows harmful effects on pregnant persons and neonates, the data are less conclusive.
Climate change-related effects detrimentally affect the health of pregnant persons and neonates, but additional research is required to improve understanding of how climate change exerts its effects on these populations.
The PAN2 gene encodes a subunit of a deadenylation complex.
In this study, we aimed to evaluate the homozygous missense variant detected in the PAN2 gene through whole-exome sequencing analysis in a case with multiple congenital anomalies and neuromotor developmental delay. A 4.5-year-old boy was referred to the pediatric genetics clinic due to multiple congenital anomalies and developmental delay. Due to the inability to determine a preliminary diagnosis with clinical and laboratory findings, whole-exome sequencing was performed on the index case. A novel homozygous missense variant, c.3026T>A (p.Val1009Asp), in the PAN2 (NM_014871.5) gene was detected. The variant was classified as “likely pathogenic” according to the ACMG 2015 criteria.
Recently, biallelic loss-of-function mutations in the PAN2 gene have been identified in several patients with congenital anomalies and neurodevelopmental disorders. In this case, a missense variant in the PAN2 gene is reported as disease-causing for the first time in the literature.
Maternal vaccines are upcoming. A clear picture of the adverse events (AEs) after maternal vaccination and whether this is comparable to a nonpregnant population is important. The objective of our study was to compare perceived AEs after COVID-19 vaccination between pregnant and nonpregnant women and to study if it is feasible to compare AEs within two independent Dutch cohort studies.
Data from the Dutch Pregnancy Drug Register (DPDR) and the cohort event monitoring (CEM) study on COVID-19 vaccines were used. At least one self-reported (solicited) AE, more than one AE, and specific self-reported AEs after the first doses of an mRNA COVID-19 vaccine were compared between pregnant and nonpregnant women using multivariable logistic regression analysis.
The pattern of AEs was similar between pregnant (n = 2204) and nonpregnant (n = 2684) women, with the four most frequently reported AEs being: injection site reaction, myalgia, fatigue, and headache. Pregnant women reported less often at least one AE compared to nonpregnant women (65.9% vs. 72.3%; adjusted odds ratio [aOR] = 0.78; 95% confidence interval [CI] = 0.67–0.90), more than one AE, or specific AEs: nausea, chills, pyrexia, and arthralgia. Myalgia was more often reported among pregnant women compared to nonpregnant women.
Pregnant women perceived comparable or less often AEs after the first mRNA COVID-19 vaccination compared to nonpregnant women. The results aid pregnant women in making an informed decision about vaccination. A comparison between the pregnancy registry and the CEM study was feasible and this method can be used to compare AEs for other/future maternal vaccines.
We evaluated associations between prenatal cannabis use and major structural birth defects of the child.
This population-based retrospective cohort study comprised singleton births (January 2011–July 2020) universally screened for substance use at entrance to prenatal care. Prenatal cannabis use was defined as self-reported use or a positive toxicology test during pregnancy. Electronic health record and birth certificate data were used to identify 38 specific major structural birth defects within 8 organ systems (i.e., central nervous, eye, ear, cardiac, orofacial/respiratory, gastrointestinal, genitourinary/renal, and musculoskeletal). Modified Poisson regression models were conducted adjusting for propensity scores.
Of 363,952 infants, 22,494(6.2%) were exposed to maternal prenatal cannabis use, and 6094 infants (2.17%) had a major structural birth defect. Maternal prenatal cannabis use was associated with gastroschisis in the unadjusted (RR = 2.00, 95% CI: 1.25–3.19) and other non-cannabis prenatal substance use (aRR = 1.68; 95% CI: 1.04–2.71) adjusted models, but not in the models adjusted for maternal age or the propensity score. Maternal prenatal cannabis use was associated with omphalocele in the unadjusted model (RR = 3.04; 95% CI: 1.42–6.48), maternal age-adjusted model (aRR = 3.54; 95% CI: 1.68–7.48), other prenatal substance use-adjusted model (aRR = 3.31; 95% CI: 1.50–7.31), and propensity score adjusted model (aRR: 2.92, 95% CI: 1.26–6.77). Cases of gastroschisis and omphalocele were rare: n = 172 (0.05%) and n = 48 (0.01%), respectively. No associations emerged between maternal prenatal cannabis use and any other birth defects. Findings were replicated when cannabis was defined by toxicology testing only.
Maternal prenatal cannabis use was associated with an increased risk for gastroschisis and omphalocele. Clinicians should provide counseling in a supportive manner to pregnant individuals about the potential harms associated with prenatal cannabis use.
Hospitalization costs for individuals with birth defects exceeded $22 billion in the US in 2019. Understanding hospitalization disparities is critical for resource allocation, and studies on this topic are limited.
In this cross-sectional study, we identified costs and length of stay from the 2019 National Inpatient Sample data, Healthcare Cost and Utilization Project. Disparities were assessed using age, race/ethnicity, regions, expected primary payer, median household income, rurality, and whether the hospitals were public or private.
Among 912,570 inpatients under 65 years old with birth defect diagnoses, those who were Black (8.3 days), resided in the South (7.6 days), and had Medicaid (8.3 days) as expected primary payer experienced longer average lengths of stay. Inpatients who were White ($10,287 million dollars), lived in the South ($7347 million dollars), and had Medicaid as the expected primary payer ($9760 million dollars) had higher total medical costs. Hispanic inpatients and those of other racial/ethnic groups ($26,145, $26,836), inpatients in the West ($29,244), as well as among those with “other” as the expected primary payer ($36,665) had higher average medical costs.
We observed disparities in birth-defect-related inpatients, with variations in medical costs and average length of stay. Health resources may be more effectively allocated to these groups.
We calculated prevalences of birth defects among infants of participants in the Centers for Disease Control and Prevention's (CDC) COVID-19 Vaccine Pregnancy Registry (C19VPR).
C19VPR enrolled women receiving COVID-19 vaccines ≤ 30 days before the last menstrual period or during pregnancy from December 2020 through June 2021. We included 19,931 participants with singleton pregnancies ending ≥ 20 weeks' gestation who did not report COVID-19 illness during pregnancy. Clinicians identified birth defects from participant-reported infant health information up to 4 months after birth. We compared C19VPR birth defect prevalences to published pre-pandemic estimates. For seven defects originating during embryogenesis (cleft lip with/without cleft palate, atrial septal defect, coarctation of the aorta, ventricular septal defect, esophageal atresia or stenosis, hypospadias, kidney agenesis/hypoplasia/dysplasia), we estimated prevalence ratios comparing those vaccinated < 14 weeks' to those vaccinated ≥ 14 weeks' gestation.
Participants reported receiving Pfizer-BioNTech vaccines (59.0%), Moderna (38.2%), and Janssen (2.8%) vaccines. Most (65.2%) participants received their first COVID-19 vaccine after the first trimester. The prevalence of major birth defects was 3.8%. Among defects with comparator estimates available (n = 50), 35 were below or within expected ranges. C19VPR prevalences were higher than the comparator confidence interval for 15 defects; however, C19VPR confidence intervals included comparator estimates. Prevalences did not differ by the timing of vaccination for seven defects examined.
Birth defects prevalence estimates among infants born to women receiving COVID-19 vaccines during or just prior to pregnancy were generally similar to pre-pandemic estimates. While there was no strong evidence of associations between vaccination and specific defects, statistical power was low.
Polycystic ovary syndrome (PCOS) is a universal reproductive, endocrine, and metabolic disorder. It affects 9.2% of women worldwide. Echinochrome (Ech) is the most common dark red pigment of sea urchin shells and possesses high antioxidant and hypoglycemic properties. Quercetin (Quer) is a flavonol widely distributed in plants with high antioxidant properties. Therefore, Ech and Quer as a combined protective therapy were investigated against letrozole and high-fat diet-induced PCOS model in rats.
Sixty female rats were divided randomly into five groups: Control: received 2% DMSO with a normal diet, PCOS: received letrozole with HFD, Ech: received letrozole and Ech with HFD, Quer: received letrozole and Quer with HFD, Ech + Quer: received letrozole, Ech, and Quer together daily orally for 4 weeks. Half of the rats in each group were sacrificed, and the remaining rats were examined for their ability to mate and fertility.
Ech and Quer treatment restored normal levels of lipid and hormonal profiles, oxidative status, kidney and liver functions with a marked amelioration in ovarian, uterine histopathology, and a good evidence in pregnancy analysis.
Ech and Quer were found to have a potent protective effect against PCOS, minimal side effects, and improved progeny outcomes in rats.
Cryptorchidism, characterized by the failure of testicular descent, is a common congenital disorder adversely affecting male reproductive health. Intriguingly, the NIMA-related kinase 2 (NEK2) gene has been implicated in various cellular processes, but its role in cryptorchidism remains underexplored.
To elucidate NEK2's role, the researchers utilized NEK2 knockout mice, analyzing testes histology with hematoxylin–eosin (HE) staining and assessing sperm morphology by Diff-Quick staining. Immunohistofluorescence evaluated Leydig cell count, while Western blotting and immunohistochemistry analyzed 3β-hydroxysteroid dehydrogenase 1 (HSD3B1), critical for testosterone synthesis. Mouse testosterone levels were quantified by ELISA, and RT-qPCR examined testicular Wnt–β-catenin and HIPPO pathway expression.
NEK2-deficient mice exhibited significantly increased cryptorchidism incidence, decreased Leydig cell number, reduced testis/body weights, and elevated sperm malformations. Histological analysis revealed pronounced testicular damage. Western blotting and immunohistochemistry showed unchanged nuclear receptor subfamily 5 (NR5A1) and insulin-like protein 3 (INSL3), but decreased HSD3B1 in NEK2−/− mice, leading to lower testosterone levels. Mechanistically, NEK2 knockout suppressed wingless/integrated (Wnt)–β-catenin and activated HIPPO, causing mammalian sterile 20-like protein kinase 2 (MST2)–large tumor suppressor homolog 2 (LATS2)-mediated downregulation of yes-associated protein (YAP).
These findings highlight NEK2's essential role in regulating testicular descent and spermatogenesis, implicating it as a potential target for cryptorchidism.
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