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母亲患有胰岛素依赖型糖尿病的婴儿中的畸形:是否存在可识别的异常模式?

Malformations among infants of mothers with insulin-dependent diabetes: Is there a recognizable pattern of abnormalities?

机构信息

Department of Pediatric 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):108-113. doi: 10.1002/bdr2.1155.

Abstract

BACKGROUND

Infants of diabetic mothers have been shown in several studies to have an increased frequency of malformations. In previous studies, an increased frequency of several specific malformations has been noted, including anencephaly, bilateral renal agenesis, and double outlet right ventricle. Surveillance, used to identify all malformed infants in a consecutive sample of births, can identify a distinctive pattern of malformations among the affected infants.

METHODS

The infants of insulin-dependent, pregestational diabetic mothers were identified in the daily review of the medical records of each newborn infant with a malformation and her/his mother's medical record. Infants of mothers with gestational diabetes were excluded. The frequency of each malformation was compared to that among the malformed infants of nondiabetic mothers.

RESULTS

One hundred and eighty-three malformed infants of diabetic mothers were identified among the 289,365 births. The most notable malformations were: neural tube defects (anencephaly, 9%), heart defects (transposition of great arteries, 4%), bilateral renal agenesis or dysgenesis (6%), and vertebral anomalies (hemivertebrae, 4%).

CONCLUSIONS

There was a recognizable pattern of malformations and characteristics of infants of diabetic mothers, although there was variation in the pattern among affected infants. Some of the malformations in the diabetic embryopathy can be identified in prenatal screening by ultrasound. More important, their occurrence can be reduced significantly by the mother achieving much better control of her diabetes mellitus prior to conception.

摘要

背景

多项研究表明,糖尿病母亲所生婴儿的畸形发生率增加。在之前的研究中,已经注意到几种特定畸形的发生率增加,包括无脑畸形、双侧肾发育不全和双出口右心室。通过连续监测出生样本中的所有畸形婴儿,可以识别出受影响婴儿中独特的畸形模式。

方法

在对每个有畸形和母亲病史的新生儿的医疗记录进行日常审查中,确定了胰岛素依赖型、孕前糖尿病母亲的婴儿。排除了患有妊娠期糖尿病的母亲的婴儿。将每种畸形的发生率与非糖尿病母亲所生畸形婴儿的发生率进行比较。

结果

在 289365 例分娩中,共发现 183 例糖尿病母亲的畸形婴儿。最显著的畸形是:神经管缺陷(无脑畸形,9%)、心脏缺陷(大动脉转位,4%)、双侧肾发育不全或发育不良(6%)和椎体异常(半椎体,4%)。

结论

尽管受影响婴儿的畸形模式存在差异,但糖尿病母亲的婴儿存在可识别的畸形模式和特征。一些糖尿病胚胎病中的畸形可以通过超声产前筛查来识别。更重要的是,通过母亲在受孕前更好地控制糖尿病,可以显著降低其发生的风险。

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