Bishop Chrissy, Small Neil, Mason Dan, Corry Peter, Wright John, Parslow Roger C, Bittles Alan H, Sheridan Eamonn
Faculty of Health Studies, University of Bradford, Bradford, UK.
Bradford Institute for Health Research, Bradford Royal Infirmary, Bradford, UK.
BMJ Paediatr Open. 2017 Nov 12;1(1):e000171. doi: 10.1136/bmjpo-2017-000171. eCollection 2017.
Congenital anomalies (CAs) are a common cause of infant death and disability. We linked children from a large birth cohort to a routine primary care database to detect CA diagnoses from birth to age 5 years. There could be evidence of underreporting by CA registries as they estimate that only 2% of CA registrations occur after age 1 year.
CA cases were identified by linking children from a prospective birth cohort to primary care records. CAs were classified according to the European Surveillance of CA guidelines. We calculated rates of CAs by using a bodily system group for children aged 0 to <5 years, together with risk ratios (RRs) with 95% CIs for maternal risk factors.
Routinely collected primary care data increased the ascertainment of children with CAs from 432.9 per 10 000 live births under 1 year to 620.6 per 10 000 live births under 5 years. Consanguinity was a risk factor for Pakistani mothers (multivariable RR 1.87, 95% CI 1.46 to 2.83), and maternal age >34 years was a risk factor for mothers of other ethnicities (multivariable RR 2.19, 95% CI 1.36 to 3.54). Education was associated with a lower risk (multivariable RR 0.78, 95% CI 0.62 to 0.98).
98% of UK CA registrations relate to diagnoses made in the first year of life. Our data suggest that this leads to incomplete case ascertainment with a further 30% identified after age 1 year in our study. Risk factors for CAs identified up to age 1 year persist up to 5 years. National registries should consider using routine data linkage to provide more complete case ascertainment after infancy.
先天性异常（CA）是婴儿死亡和残疾的常见原因。我们将一个大型出生队列中的儿童与一个常规初级保健数据库相链接，以检测从出生到5岁的CA诊断情况。CA登记处可能存在报告不足的证据，因为他们估计只有2%的CA登记发生在1岁以后。
通过将前瞻性出生队列中的儿童与初级保健记录相链接来识别CA病例。根据欧洲先天性异常监测指南对CA进行分类。我们使用身体系统分组计算了0至<5岁儿童的CA发生率，以及母亲风险因素的风险比（RR）和95%置信区间（CI）。
常规收集的初级保健数据将CA患儿的确诊率从1岁以下每10000例活产中的432.9例提高到5岁以下每10000例活产中的620.6例。近亲结婚是巴基斯坦母亲的一个风险因素（多变量RR 1.87，95%CI 1.46至2.83），而母亲年龄>34岁是其他种族母亲的一个风险因素（多变量RR 2.19，95%CI 1.36至3.54）。教育程度与较低风险相关（多变量RR 0.78，95%CI 0.62至0.98）。
英国98%的CA登记与生命第一年做出的诊断有关。我们的数据表明，这导致病例确诊不完整，在我们的研究中，1岁以后又发现了30%的病例。1岁前确定的CA风险因素在5岁前持续存在。国家登记处应考虑使用常规数据链接，以在婴儿期后提供更完整的病例确诊。
