Birth Defects Research最新文献

{"title":"Synthesizing Cohort Study Results to Promote Knowledge Transfer of Safety Data Regarding Gestational Antidepressant Exposure and Offspring Congenital Anomalies: A Test of Concept","authors":"Eydie L. Moses-Kolko,&nbsp;Loreen Straub,&nbsp;Kelly Fung,&nbsp;Krista F. Huybrechts","doi":"10.1002/bdr2.2496","DOIUrl":"https://doi.org/10.1002/bdr2.2496","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Health practitioners tend to overestimate potential risks to pregnancy from antidepressant (AD) exposure. Through a literature review focused on major congenital anomalies (MCA) and cardiac anomalies (CA) in association with gestational AD exposure, we evaluated the strength of the available evidence and explored ways to facilitate communication of the evidence to providers and patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In PubMed, we searched English language publications, from January 2013 to March 2024, using search terms for ADs and MCA to identify cohort studies that took steps to minimize confounding and misclassification bias. We extracted study relative risks (RR) for the association between ADs and anomalies. We meta-analyzed the RR and developed a fact box to streamline risk communication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 1308 articles identified, 111 were retained after abstract review, of which 13 met our inclusion criteria. The pooled RR values for any AD were 1.06 (95% CI: 1.00–1.13) for MCA and 1.10 (95% CI: 1.01–1.19) for CA. Results were similar when focusing on individual AD drug classes. Risks were depicted on the absolute scale using an icon array in a fact box.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Reassuring quantitative data regarding prenatal AD exposure and the risk of MCA/CA are buried within a large corpus of publications. The fact box provides a quantitative, visual, and verbal description of absolute risks, based on pooled estimates from cohort studies which took steps to minimize bias. Further study is needed to examine the potential for fact boxes to increase clinician knowledge, clinician confidence to engage in risk discussions with patients, and patient understanding of the risk data.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2496","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144367328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparing Folic Acid Interventions and Arsenic Reduction Strategies for Neural Tube Defect Prevention in Bangladesh: A Systematic Review and Decision Analysis","authors":"Chih-Fu Wei,&nbsp;Ernani F. Choma,&nbsp;Xingyan Wang,&nbsp;Carrie G. Wade,&nbsp;Ya Luan Hsiao,&nbsp;Diane Bao,&nbsp;Sudipta K. Mukherjee,&nbsp;David C. Christiani,&nbsp;Marc G. Weisskopf,&nbsp;Liming Liang,&nbsp;Maitreyi Mazumdar","doi":"10.1002/bdr2.2494","DOIUrl":"https://doi.org/10.1002/bdr2.2494","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Maternal intake of folic acid prevents most cases of neural tube defects (NTDs), and arsenic exposure may increase NTD risk. In Bangladesh, where arsenic exposures are high, understanding the potential impacts of arsenic reduction and folic acid-based interventions can guide decision-making.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a systematic review and meta-analysis to estimate the prevalence of NTDs in Bangladesh. We searched PubMed, Embase, Web of Science, Global Health, and Bangladesh Journals Online and extracted data using standardized forms. We used forest plots and random effects models to estimate the prevalence of all NTDs and spina bifida. Decision analysis used assumptions from the literature to compare expected NTD prevalence under strategies incorporating combinations of folic acid supplementation, fortification, and arsenic filters. Sensitivity analyses aimed to quantify the influence of adherence to supplements on estimates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Eleven studies were included. Prevalences of NTD and spina bifida were 27.4 and 11.2 per 10,000 births, respectively; however, when estimated from population red blood cell folate concentrations, NTD prevalence was higher in both high arsenic exposure (drinking water ≥ 50 μg/L) and lower arsenic exposure groups (34.3 and 25.3 per 10,000 births, respectively). Folic acid fortification reduced the prevalence of NTDs to 11.1 and 9.1 per 10,000 births among high exposure and low exposure groups, respectively. Arsenic filters provided little marginal benefit. Benefits of supplements equaled those of fortification when adherence to supplements exceeded 90%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Bangladesh has high rates of NTDs and high arsenic exposures. Folic acid fortification is projected to be the most effective strategy for NTD prevention.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2494","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144367329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hearing Loss Profiles in Sporadic and Familial Microtia: Clinical Insights From an Ecuadorian Cohort","authors":"Fabricio González-Andrade,&nbsp;Fausto Coello,&nbsp;Edwin Andrade,&nbsp;Henry Vásconez","doi":"10.1002/bdr2.2501","DOIUrl":"https://doi.org/10.1002/bdr2.2501","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Microtia is a congenital anomaly of the external ear that often leads to hearing loss due to associated auditory canal and middle ear malformations. While right-ear predominance and conductive hearing loss are well-documented, few studies have compared anatomical and audiological differences between sporadic and familial cases, especially in underrepresented populations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To compare the clinical, anatomical, and auditory characteristics of patients with sporadic versus familial microtia in an Ecuadorian cohort.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A cross-sectional study was conducted on 146 patients with microtia, classified as either sporadic or familial. Demographic, clinical, and risk factor data were collected through structured interviews. Audiological evaluations included auditory evoked potentials, otoacoustic emissions, tympanometry, pure-tone audiometry, and speech audiometry, based on patient age and canal patency. Statistical analysis included Mann–Whitney U and Chi-square tests (<i>p</i> &lt; 0.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Right-ear involvement was most common (45.45%). Grade 3 microtia was the most prevalent, while Grade 4 was observed exclusively in familial cases. Conductive hearing loss predominated (74.67% left ear, 83.33% right ear). Although no significant differences in hearing loss type or severity were found between groups, familial cases showed a trend toward more severe impairment. Otoacoustic emissions and stapedial reflexes were more frequently absent in right ears. Pure tone perception and speech recognition were also more impaired on the right side.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Microtia is most commonly right-sided and associated with significant conductive hearing loss. Familial cases may present with more severe features. Early diagnosis and intervention are essential to mitigate developmental consequences, particularly in resource-limited settings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144367616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to “Equity in Early Life: Advancing Environmental Justice for Maternal and Child Health”","authors":"","doi":"10.1002/bdr2.2495","DOIUrl":"https://doi.org/10.1002/bdr2.2495","url":null,"abstract":"<p>Ceri, A., and M. D. Keskin. 2025. “Equity in Early Life: Advancing Environmental Justice for Maternal and Child Health.” <i>Birth Defects Research</i> 117: e2448. https://doi.org/10.1002/bdr2.2448.</p><p>In the originally published article, author Doğukan Mustafa Keskin's name was incorrectly given as Dogukan Keskin.</p><p>We apologize for this error.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2495","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144323590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Climate Change and Pregnancy Outcomes: A Systematic Approach to Reviewing the Data","authors":"Caroline B. Braun,&nbsp;Sonja A. Rasmussen,&nbsp;Denise J. Jamieson","doi":"10.1002/bdr2.2493","DOIUrl":"https://doi.org/10.1002/bdr2.2493","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144292631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2-Related Disorders","authors":"Özgür Çoğulu,&nbsp;Durdugül Ayyıldız Emecen,&nbsp;Tahir Atik,&nbsp;Esra Işık,&nbsp;Asude Durmaz,&nbsp;Ayça Aykut,&nbsp;Ferda Özkınay","doi":"10.1002/bdr2.2491","DOIUrl":"https://doi.org/10.1002/bdr2.2491","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The PAN2 gene encodes a subunit of a deadenylation complex.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>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&gt;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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144244706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of Perceived Adverse Events After COVID-19 Vaccination Between Pregnant and NonPregnant Women Using Two Cohort Studies in the Netherlands","authors":"Petra J. Woestenberg,&nbsp;Annika W. Terpstra,&nbsp;Florence van Hunsel,&nbsp;Thomas Lieber,&nbsp;Veronique Y. F. Maas","doi":"10.1002/bdr2.2490","DOIUrl":"https://doi.org/10.1002/bdr2.2490","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The pattern of AEs was similar between pregnant (<i>n</i> = 2204) and nonpregnant (<i>n</i> = 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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2490","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144220006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maternal Prenatal Cannabis Use and Major Structural Birth Defects","authors":"Lyndsay A. Avalos,&nbsp;Sara R. Adams,&nbsp;Stacey E. Alexeeff,&nbsp;Nina R. Oberman,&nbsp;Monique B. Does,&nbsp;Kristin R. Steuerle,&nbsp;Deborah R. Ansley,&nbsp;Carley L. Castellanos,&nbsp;Alisa A. Padon,&nbsp;Lynn D. Silver,&nbsp;Kelly C. Young-Wolff","doi":"10.1002/bdr2.2492","DOIUrl":"https://doi.org/10.1002/bdr2.2492","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We evaluated associations between prenatal cannabis use and major structural birth defects of the child.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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: <i>n</i> = 172 (0.05%) and <i>n</i> = 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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144232335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maternal Age-Related Gender Bias in Trisomy 21 and Trisomy 18","authors":"Yun Pan,&nbsp;Changshui Chen,&nbsp;Haibo Li","doi":"10.1002/bdr2.2489","DOIUrl":"https://doi.org/10.1002/bdr2.2489","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Background&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The aim of this study was to investigate the underlying factors contributing to gender-based disparities in the prevalence of trisomy 21 (Downs's syndrome) and trisomy 18 (Edwards's syndrome).&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Overall, 551 cases of trisomy 21 (T21) and 154 cases of trisomy 18 (T18) diagnosed through amniotic fluid karyotyping and chromosomal microarray analysis (CMA) between 2005 and 2023 at the Affiliated Women and Children's Hospital of Ningbo University. The study population consisted of fetuses at 19–23 gestational weeks across various maternal age groups. A control group comprising 662,453 newborns from the same institution between 2011 and 2018 was established for sex ratio comparison. Parental origin of diploids in T21 and T18 cases was determined using quantitative fluorescence-polymerase chain reaction (QF-PCR) analysis. Statistical significance of gender bias was evaluated using chi-squared tests, with a threshold of &lt;i&gt;p&lt;/i&gt; &lt; 0.05 considered statistically significant.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The study revealed distinct sex ratio patterns across different maternal age groups. The control group exhibited a sex ratio of 1.06 (male:female), while the overall sex ratio for T21 cases was significantly elevated at 1.32. Notably, the highest sex ratio (1.84) was observed in T21 cases among women aged 20–25 years, with a progressive decline in sex ratio corresponding to increasing maternal age. The sex ratio of newborns born to women aged ≥ 35 years approximated that of the control. In contrast, T18 cases demonstrated an overall female predominance, with a sex ratio of 0.67, reaching its lowest value (0.56) in the 25–30 years maternal age group. Regarding the parent origin of diploids, maternal meiosis errors accounted for &gt; 90% of cases in both T21 and T18. However, a higher prevalence of paternal origin was observed in younger women (≤ 35 years). Male fetuses of paternal diploid origin of T21 were 2.5 times more than female fetuses.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusion&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;In our sample of over 500,000 births, between 2005 and 2023 in Ningbo, China, fetuses with T21 were more likely to be males while fetuses with T18 were more likely to be females. However, this gender bias exhibited a significant age-dependent pattern, being predominantly observed in women under 35 years of age. Specifically, in T21 cases of paternal origin among women ≤ 35 years, the frequency of nondisjunction involving Y-chromosome-bearing sperm was 2.5-fold higher than","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2489","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144190779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disparities in Birth Defect Related Hospitalization Costs and Length of Stay in the US, 2019","authors":"Ruiqi Cen,&nbsp;Anthony Goudie,&nbsp;Wendy N. Nembhard","doi":"10.1002/bdr2.2486","DOIUrl":"https://doi.org/10.1002/bdr2.2486","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144171773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}