Epidemiology of Macrocephaly in the Texas Birth Defects Registry, 1999–2019

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research Pub Date : 2024-11-25 DOI:10.1002/bdr2.2415

Rachel P. Allred, J. Aguilar-Martinez, R. Howell, Dayana Betancourt, Lisa Marengo, A. Dixon, H. Jeon, C. Yantz, M. Kilburn, Margaret Drummond-Borg, Joanne Nguyen, Fernando Arena, Charles Shumate

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引用次数: 0

Abstract

Background

Macrocephaly is a clinical observation denoted as an occipitofrontal head circumference exceeding two standard deviations above same age and sex norms. By its definition, macrocephaly occurs in approximately 3% of the population. Descriptive epidemiologic evaluations of macrocephaly are lacking in the literature. The primary objective of this study was to describe the prevalence of macrocephaly captured by the Texas Birth Defects Registry (TBDR) by infant sex, rural/urban residence, and select maternal characteristics.

Methods

Cases of TBDR between 1999 and 2019 with a six-digit Centers for Disease Control modified-British Pediatric Association (BPA) code of 742.400 (enlarged brain/head, large head, macrocephaly, megalencephaly) were identified. All pregnancy outcomes and diagnostic certainties were included. Prevalence (per 10,000 live births) and 95% confidence intervals (CIs) were calculated using a Poisson table by rural/urban residence, infant sex, maternal age, education, race/ethnicity, history of diabetes, and body mass index (BMI). Prevalence calculations were repeated across multiple sensitivity analyses including (1) definite, isolated cases excluding those with indication of being either “benign” or “familial”, (2) definite, non-isolated cases, (3) definite non-isolated cases excluding chromosomal and syndromic cases, and (4) definite, proportionate (at birth) cases. A secondary objective was to describe the most common co-occurring congenital defects among definite, non-isolated cases.

Results

Overall, between 1999 and 2019, 14,637 cases of macrocephaly were identified in the TBDR resulting in a prevalence of 18.12/10,000 live births (95% CI: 17.83–18.42). Most cases were live born (99%), had a definite diagnosis (87%), and were non-isolated (57%). Prevalence was significantly higher among males, among those with an urban residence, and among mothers who were older, Non-Hispanic White, who had greater than high school education, who had a history of diabetes, and who were obese. Prevalence patterns remained consistent across all sensitivity analyses. The most common co-occurring congenital defects among definite, non-isolated cases were minor and primarily included skull and facial bone anomalies (e.g., plagiocephaly [18%]).

Conclusions

To our knowledge, this is the first epidemiologic evaluation of macrocephaly in a birth defects registry. The long-term clinical impact of isolated macrocephaly is not well understood and should be the focus of future investigations.

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德克萨斯州出生缺陷登记处 1999-2019 年巨头畸形流行病学情况

背景巨脑畸形是一种临床表现，是指头围超过同年龄和性别标准两个标准差。根据其定义，巨头畸形大约发生在 3% 的人口中。文献中缺乏对巨头畸形的描述性流行病学评估。本研究的主要目的是描述德克萨斯州出生缺陷登记处（TBDR）按婴儿性别、农村/城市居住地和特定产妇特征统计的巨脑畸形发病率。方法确定 1999 年至 2019 年期间 TBDR 的病例，这些病例的六位数疾病控制中心-英国儿科协会（British Pediatric Association，BPA）代码为 742.400（脑/头增大、大头、巨颅症、巨脑症）。所有妊娠结果和诊断确定性均包括在内。患病率（每 10,000 例活产）和 95% 置信区间（CIs）通过泊松表按农村/城市居住地、婴儿性别、产妇年龄、教育程度、种族/民族、糖尿病史和体重指数（BMI）进行计算。流行率计算在多个敏感性分析中重复进行，包括：（1）明确的孤立病例，不包括有 "良性 "或 "家族性 "迹象的病例；（2）明确的非孤立病例；（3）明确的非孤立病例，不包括染色体和综合征病例；以及（4）明确的比例（出生时）病例。次要目标是描述明确的非分离病例中最常见的并发先天缺陷。结果总体而言，1999 年至 2019 年间，TBDR 共发现 14,637 例巨头畸形病例，患病率为 18.12/10,000（95% CI：17.83-18.42）。大多数病例为活产（99%），有明确诊断（87%），非隔离（57%）。男性、城市居民、年龄较大、非西班牙裔白人、高中以上学历、有糖尿病史和肥胖的母亲的患病率明显较高。在所有敏感性分析中，患病率模式保持一致。在明确的非分离病例中，最常见的并发先天性缺陷是轻微的，主要包括颅骨和面部骨骼异常（如长颅畸形 [18%]）。结论据我们所知，这是首次在出生缺陷登记中对巨脑畸形进行流行病学评估。我们对孤立性巨头畸形的长期临床影响还不甚了解，这应该是未来调查的重点。

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.