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畸形监测:出生时与 1 岁时的发现比较。

Malformations Surveillance: Comparison between Findings at Birth and Age 1 Year.

机构信息

Active Malformations Surveillance Program, Department of Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts.

Medical Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts.

出版信息

Birth Defects Res. 2018 Jan;110(2):142-147. doi: 10.1002/bdr2.1096. Epub 2017 Aug 10.

DOI:10.1002/bdr2.1096
PMID:28796462
Abstract

BACKGROUND

Malformations surveillance programs among newborn infants are used to determine the prevalence of congenital anomalies. A comparison in the same group of infants between the malformations detected at birth and those detected at 1 year of age will identify errors in the surveillance process and, also, the abnormalities more likely not to be detected at birth, but later in the first year of life.

METHODS

The malformations identified at birth by Brigham and Women's Hospital (BWH) in the years 2000 and 2005 have been compared with the abnormalities detected in the same infants up to age 1 year by the Massachusetts Birth Defects Monitoring Program.

RESULTS

The Massachusetts Birth Defects Monitoring Program identified 557 malformed infants in 2000 and 415 in 2005. Of these, 34 (3.5%) of the malformed infants were missed at birth by BWH Surveillance Program. An additional 22 (2.3%) malformed infants had delayed detection, as they were identified later in the first year. The reasons were the fact that: (1) the Surveillance staff reviewed the physicians' recorded findings only on the first day of life; (2) failure of the examining pediatrician to record the presence of a malformation in her/his notes. The most common abnormalities with delayed detection were mild heart defects, such as atrial septal defects.

CONCLUSION

These findings emphasize the importance in a newborn malformations surveillance program of continued follow up in the first days of life, especially in small, premature infants. Birth Defects Research 110:142-147, 2018. © 2017 Wiley Periodicals, Inc.

摘要

背景

新生儿畸形监测项目用于确定先天性畸形的患病率。在同一组婴儿中,比较出生时和 1 岁时检测到的畸形,可以确定监测过程中的错误,以及那些更有可能在出生时未被发现,但在生命的第一年后期才被发现的异常。

方法

将 2000 年和 2005 年布莱根妇女医院(BWH)出生时发现的畸形与马萨诸塞州出生缺陷监测计划在同一婴儿中直至 1 岁时发现的异常进行比较。

结果

马萨诸塞州出生缺陷监测计划在 2000 年和 2005 年分别发现了 557 例和 415 例畸形儿。其中,34 例(3.5%)BWH 监测计划漏诊。另外 22 例(2.3%)畸形儿的检测出现延迟,因为它们是在第一年后期才被发现的。原因是:(1)监测人员仅在出生后的第一天审查医生记录的发现;(2)检查儿科医生未能在她/他的记录中记录畸形的存在。延迟检测的最常见畸形是轻度心脏缺陷,如房间隔缺损。

结论

这些发现强调了新生儿畸形监测计划在生命最初几天进行持续随访的重要性,尤其是在小早产儿中。出生缺陷研究 110:142-147, 2018. © 2017 威利期刊公司。

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