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神经管缺陷及叶酸强化前后相关畸形。

Neural Tube Defects and Associated Anomalies before and after Folic Acid Fortification.

机构信息

Greenwood Genetic Center, Greenwood, SC.

Greenwood Genetic Center, Greenwood, SC.

出版信息

J Pediatr. 2020 Nov;226:186-194.e4. doi: 10.1016/j.jpeds.2020.07.002. Epub 2020 Jul 5.

DOI:10.1016/j.jpeds.2020.07.002
PMID:32634404
Abstract

OBJECTIVE

To examine the prevalence and types of neural tube defects and the types of anomalies co-occurring with neural tube defects in 6 years before fortification of cereal grain flour with folic acid (1992-1998) and 20 years after fortification (1999-2018) in South Carolina, a state with a historically high prevalence of these birth defects.

STUDY DESIGN

The prevalence of neural tube defects was determined by active and passive surveillance methods in South Carolina since 1992. The types of neural tube defects and co-occurring malformations were determined by prenatal ultrasound and post-delivery examination.

RESULTS

In the 6 prefortification years, 363 neural tube defects were identified among 279 163 live births and fetal deaths (1/769), 305 (84%) of which were isolated defects of the calvaria or spine. In the 20 fortification years, there were significant reductions in the prevalence and percentage of isolated defects: 938 neural tube defects were identified among 1 165 134 live births and fetal deaths (1/1242), 696 (74.2%) of which were isolated. The current prevalence of neural tube defects in South Carolina (0.56/1000 live births and fetal deaths) is comparable with that nationwide.

CONCLUSIONS

The continued occurrence of neural tube defects, the majority of which are isolated, after folic acid fortification of cereal grain flours suggests that additional prevention measures are necessary to reduce further the prevalence of these serious defects of the brain and spine.

摘要

目的

在南卡罗来纳州强化谷物面粉叶酸(1992-1998 年)之前的 6 年和强化之后的 20 年(1999-2018 年),研究神经管缺陷的流行率和类型,以及神经管缺陷伴发的畸形类型。

研究设计

自 1992 年以来,南卡罗来纳州通过主动和被动监测方法确定神经管缺陷的流行率。通过产前超声和产后检查确定神经管缺陷的类型和伴发的畸形。

结果

在 6 年强化前,在 279163 例活产和胎儿死亡中发现 363 例神经管缺陷(1/769),其中 305 例(84%)为颅骨或脊柱的孤立性缺陷。在 20 年强化期间,神经管缺陷的流行率和孤立性缺陷的百分比显著降低:在 1165134 例活产和胎儿死亡中发现 938 例神经管缺陷(1/1242),其中 696 例(74.2%)为孤立性缺陷。南卡罗来纳州目前的神经管缺陷流行率(0.56/1000 活产和胎儿死亡)与全国水平相当。

结论

在强化谷物面粉叶酸之后,仍持续发生神经管缺陷,其中大多数为孤立性缺陷,这表明需要采取额外的预防措施,以进一步降低这些严重的脑和脊柱畸形的流行率。

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