Prevalence of structural birth defects among infants with Down syndrome, 2013-2017: A US population-based study.
Prevalence of structural birth defects among infants with Down syndrome, 2013-2017: A US population-based study.
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DOI：
10.1002/bdr2.1854
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发表时间：
2021-01-15
影响因子：
2.1
通讯作者：
National Birth Defects Prevention Network
中科院分区：
文献类型：
--
作者：
Heinke D;Isenburg JL;Stallings EB;Short TD;Le M;Fisher S;Shan X;Kirby RS;Nguyen HH;Nestoridi E;Nembhard WN;Romitti PA;Salemi JL;Lupo PJ;National Birth Defects Prevention Network
唐氏综合症是出生时最常见的染色体疾病，通常伴有结构性出生缺陷。目前关于该人群主要结构缺陷的数据有限。各州和地区基于人口的监测计划提交了2013-2017年期间已确定的唐氏综合征病例和已确定的结构性出生缺陷的数据。我们通过项目类型和母婴特征估计了患病率。在有积极病例确认的项目中，我们按器官系统估计了出生缺陷的患病率，并按母亲年龄（<35岁，≥35岁）和婴儿性别估计了特定缺陷的患病率。我们发现了13,376例唐氏综合征病例。所有项目的患病率为每10，000名活产婴儿中12.7人。在这些儿童中，75%至少有一个报告的共同发生的出生缺陷诊断代码。在通过主动程序识别的6，210例病例中，66%患有心血管缺损，其中间隔缺损最常见：心房（32.5%），心室（20.6%）和房室（17.4%）。缺陷患病率的差异，婴儿性别比母亲的年龄更频繁。例如，房室间隔缺损在女童中更常见（20.1%对15.1%），而肢体缺陷在男童中更普遍（0.4%对0.1%）。我们的研究提供了最新的患病率估计结构缺陷，包括罕见的缺陷，在唐氏综合征儿童中使用一个最大的和最新的队列。这些数据可能有助于临床护理和监测。
Down syndrome is the most common chromosomal disorder at birth and is often accompanied by structural birth defects. Current data on major structural defects in this population are limited. States and territorial population-based surveillance programs submitted data on identified cases of Down syndrome and identified structural birth defects during 2013–2017. We estimated prevalence by program type and maternal and infant characteristics. Among programs with active case ascertainment, we estimated the prevalence of birth defects by organ system and for specific defects by maternal age (<35, ≥35) and infant sex. We identified 13,376 cases of Down syndrome. Prevalence among all programs was 12.7 per 10,000 live births. Among these children, 75% had at least one reported co-occurring birth defect diagnosis code. Among 6,210 cases identified by active programs, 66% had a cardiovascular defect with septal defects being the most common: atrial (32.5%), ventricular (20.6%), and atrioventricular (17.4%). Defect prevalence differed by infant sex more frequently than by maternal age. For example, atrioventricular septal defects were more common in female children (20.1% vs. 15.1%) while limb deficiencies were more prevalent in male children (0.4% vs. 0.1%). Our study provides updated prevalence estimates for structural defects, including rare defects, among children with Down syndrome using one of the largest and most recent cohorts to date. These data may aid clinical care and surveillance.
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影响因子：
5.3
作者：
Allen EG;Freeman SB;Druschel C;Hobbs CA;O'Leary LA;Romitti PA;Royle MH;Torfs CP;Sherman SL
通讯作者：
Sherman SL
影响因子：
3.8
作者：
Brodwall, Kristoffer;Greve, Gottfried;Oyen, Nina
通讯作者：
Oyen, Nina
DOI：
10.1002/bdra.22846
发表时间：
2011-10-01
影响因子：
--
作者：
Tennant, Peter W. G.;Samarasekera, S. Dilhani;Rankin, Judith
通讯作者：
Rankin, Judith
影响因子：
1.6
作者：
Hartman, Robert J.;Rasmussen, Sonja A.;Correa, Adolfo
通讯作者：
Correa, Adolfo
影响因子：
1.9
作者：
Stoll, Claude;Dott, Beatrice;Roth, Marie-Paule
通讯作者：
Roth, Marie-Paule