Birth Defects Research最新文献

Given the increased concerns over reproducibility, replicability, and reliability of scientific studies, the embryo-fetal developmental toxicity (EFDT) study was examined from this perspective together with the classic 3Rs. These 6Rs contribute to external validity (i.e., applicability to human safety). Species differences and experimental conditions lower the validity of all preclinical studies to variable extents. The apparent lack/paucity of demonstrated replicate EFDT studies lowers reliability and thus validity. I make suggestions intended to add reliability for the continued use of these studies, which are a cornerstone for assessing safety during human pregnancies. Experienced readers will recognize that the suggestions would also apply to other guideline-mandated developmental and reproductive toxicity and toxicity studies.

Background: The landscape of co-occurring birth defects among infants with congenital diaphragmatic hernia (CDH) remains underexplored.

Aims: This study aims to elucidate the complex patterns of co-occurring defects in Chinese population.

Materials and methods: We analyzed cases from the Chinese Birth Defects Monitoring Network (2007-2019) with CDH that presented along with at least one additional defect but without a syndromic diagnosis. Adjusted observed-to-expected prevalence (O/E) ratios were calculated for all two- to five-way combinations to discern patterns of co-occurring defects with CDH more frequently than expected by chance.

Results: Among 1235 CDH cases associated with other birth defects, the top 30 combinations with the highest adjusted O/E ratios included musculoskeletal, cardiovascular, central nervous system, facial, and renal defects. Cardiovascular defects were involved in 76.7% of the top combinations, followed by central nervous system (23.3%) and musculoskeletal defects (20.0%). The combination of polydactyly and syndactyly anomalies exhibited the highest adjusted O/E ratio of 5963.37 (95% confidence interval: 5960.00-5966.73).

Discussion: The relationship between musculoskeletal malformation and CDH may be explained from the aspects of epidemiology, embryology and pathogenesis. And mechanisms for the co-occurrence of cardiovascular and CDH may involve disruption of common pathways.

Conclusion: Our analyses describe the co-occurrence patterns of birth defects in CDH infants and reveal several noteworthy patterns. The observed patterns can guide further study and enhance our comprehension understanding of the developmental mechanisms underlying multiple defects.

Introduction: While improved medical and surgical care for children with pina bifida has improved their survival, some may have lower cognitive, behavioral and educational performance. The paper assesses the effect of spina bifida on cognitive, behavioral, and educational outcomes in 5-11 year olds.

Methods: A cross-sectional study design was used where data were collected from parents/guardians and teachers using Behavior Rating Inventory of Executive Function, second edition (BRIEF2), Strengths and Difficulties Questionnaire (SDQ), and Teacher Academic Attainment Scale (TAAS).

Results: Nineteen parental and 13 teacher responses were received for children with spina bifida, and 8 parental and seven teacher responses for children without Spina Bifida. Overall, the majority of the sample were female. Children in both groups performed at a similar level across subscales of BRIEF2 with the exception of Working Memory. No group differences were found in SDQ scales as assessed by parents; teacher assessment of conduct problems. Hyperactivity/inattention and peer problems were higher for children with spina bifida. Anticipated matched analysis was not possible due to unequal number of participants between the groups. Children with spina bifida performed similarly as peers without spina bifida in all subjects across the curriculum with the exception of English, Mathematics, and History.

Discussion: Based on this small sample, a potential need for evidence-based interventions to assist children with spina bifida in the cognitive area of working memory and also in English, Mathematics and History is postulated. Larger longitudinal studies are required to confirm these findings.

Background: Seasonality in the incidence of congenital hypothyroidism (CH) has been identified in several countries and different conclusions have been drawn. The objective of this study was to examine whether this seasonality is also observable in China and how it manifests across different temperate zones.

Methods: Data on CH cases and screened neonates between January 1, 2014, and September 30, 2022, by year and season, were sourced from the Chinese Newborn Screening Information System. The overall CH incidence and incidence across different temperate zones was analyzed by using the seasonal unit root test, seasonal decomposition, and deterministic seasonal means regression model.

Results: A total of 29,259 CH cases were reported nationwide from season one of 2014 to season three of 2022. Quarterly CH incidence showed an upward time trend and significant seasonality among all zones, but with different patterns. Overall, season one was the peak period with an incidence rate of 7.09 per 10,000 neonates, whilst season two was the trough period with an incidence rate of 5.89. Subtropical, warm, and medium temperate zones had one peak period in season one, whilst the tropical zone had two peak periods in seasons one and three. In comparison, the plateau zone had a trough season in season one.

Conclusion: Our study found the quarterly CH incidence exhibited clear seasonality, temperate zone-specific patterns, and an upward time trend in China. This finding is particularly concerning given China's decline in the number of births, underscoring the urgency of allocating resources appropriately in screening programs.