- Epidemiology of Neural Tube Defects in Puerto Rico in the Era of Folic Acid Fortification: Population-Based Surveillance, Pregnancy Outcomes, and Lesion Patterns (2015-2024). [Journal Article]Birth Defects Res. 2026 Sep; 118(9):e70110.BD
- CONCLUSIONS: The contemporary live-born NTD rate in Puerto Rico is lower than the pre-fortification era estimate, reflecting the influence of prenatal diagnosis and termination. The overall surveillance-based rate remains similar to the earlier post-fortification estimate, with no significant recent decline, supporting the need for strengthened territory-specific surveillance and earlier, coordinated folate-centred prevention strategies.
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- Accuracy of Preliminary Birth Defect Surveillance in Utah: A Validation Study Supporting Timely Family Referrals. [Journal Article]Birth Defects Res. 2026 Sep; 118(9):e70119.BD
- CONCLUSIONS: Preliminary surveillance reviews demonstrate high diagnostic stability for the majority of monitored conditions. These findings validate the use of preliminary data to trigger early family-centered referrals, significantly reducing the latency between case confirmation and intervention without compromising the integrity of formal reporting.
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- Compound Heterozygous Mutations in FGA Cause Congenital Afibrinogenemia: A Case Report and Literature Review. [Case Reports]Birth Defects Res. 2026 Sep; 118(9):e70109.BD
- CONCLUSIONS: This case expands the genotype-phenotype correlation database for fibrinogen disorders and underscores the necessity of molecular diagnosis for congenital coagulation defects.
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- Evaluating the Performance of Traditional Pharmacoepidemiologic and Machine Learning Models to Predict Pregnancies at Risk of Major Congenital Malformations. [Journal Article]
- CONCLUSIONS: There is insufficient evidence for the superiority of ML over traditional pharmacoepidemiologic modeling in predicting MCM.
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- Nicotine Exposure During Gestation: From Placental Dysfunction to Long-Term Neurobehavioral Outcomes. [Review]
- CONCLUSIONS: By integrating temporally distinct findings into a unified mechanistic framework, this review identifies critical developmental windows and molecular targets for intervention. Such an approach is essential for advancing preventive strategies, informing public health policy, and mitigating the long-term and transgenerational consequences of nicotine exposure.
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- The Rise of Regulatogens: A Crisis of Insouciance and Dilettantism in the Regulatory DART World-And How We Must Fix It. [Review]
- Developmental and reproductive toxicity testing (DART) safety tests are expensive and time-consuming. The future of DART testing is trending toward in vitro and in silico systems (and potentially artificial intelligence). Forward-looking academic programs have embraced the new test systems, but regulatory decisions remain based on decades-old, whole-animal testing. Many regulatory scientists have…
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- Congenital Anomaly Prevalence: A 10-Year Retrospective Study in a Tertiary Hospital in Turkey. [Journal Article]
- CONCLUSIONS: We found that the mortality rate among newborns with CA was 21.25% and that the incidence of anomalies increased during the COVID-19 pandemic. Multidisciplinary efforts are required to provide parents with the necessary information during pregnancy and the prepregnancy planning period. It is crucial to examine the prevalence of CA during the Covid-19 pandemic period in other regional studies and to evaluate the impact of such epidemics on anomalies.
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- Neighborhood Economic Deprivation, Hispanic Ethnic Enclaves, and Congenital Anomalies in Texas. [Journal Article]
- CONCLUSIONS: Neighborhood socioeconomic and sociodemographic factors are associated with congenital anomalies, suggesting differences in risk factors or ascertainment in economically disadvantaged neighborhoods or Hispanic/Latino enclaves.
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- Food-Borne Environmental Contaminants, Intestinal Injury, and Early Childhood Stunting: A Developmental Toxicology Perspective. [Review]
- CONCLUSIONS: Dietary environmental toxins cause irreversible developmental deficits by damaging intestinal function and disrupting endocrine regulation. Strengthening developmental toxicology-oriented monitoring and source control will support precise prevention of early childhood stunting within the critical first 1000-day window.
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- Congenital Heart Disease Associated With Genetic Syndromes and Extracardiac Anomalies: A Six-Year Epidemiological Study in a Brazilian Referral Center. [Journal Article]
- CONCLUSIONS: IFF presents a highly complex patient profile, with a high prevalence of CHD associated with genetic syndromes and extracardiac anomalies, reflecting its role as a tertiary referral center. The presence of associated anomalies and syndromes negatively impacted neonatal prognosis, reinforcing the importance of prenatal diagnosis and specialized multidisciplinary care in the management of these conditions.
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- A Tiered Genetic Diagnostic Approach in Newborns With Major Congenital Anomalies: Experience From a Tertiary NICU. [Journal Article]
- CONCLUSIONS: A structured, tiered genomic approach enhances diagnostic yield in neonates with congenital anomalies. Integration of cytogenetics, CMA, and CNV-aware exome sequencing provides a pragmatic and clinically actionable framework for molecular diagnosis in NICU settings and supports developmentally informed interpretation of complex phenotypes.
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- Maternal Hypertension, Diabetes, and Preterm Birth Risk Among Infants With Trisomy 21 in Texas, 1999-2018. [Journal Article]
- CONCLUSIONS: Our findings shed light on the role of maternal hypertension and diabetes in preterm birth risk among infants with trisomy 21, particularly when both conditions co-occur and for extremely to very preterm birth.
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- Enumeration of Microscopic Ovarian Structures in Rodents: Best Practices and Toxicological Significance. [Journal Article]
- CONCLUSIONS: Based on the authors' collective experience and successful regulatory history, we put forth best practice recommendations for data collection and analysis with the goal to provide a frame of reference for industry laboratories.
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