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非遗传因素导致的前脑无裂畸形：流行病学文献的更新综述。

Nongenetic risk factors for holoprosencephaly: An updated review of the epidemiologic literature.

机构信息

Division of Congenital and Developmental Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.

LAC Group, Contractor to US Centers for Disease Control and Prevention, Library Science Branch, Division of Public Health Information Dissemination, Center for Surveillance, Epidemiology, and Laboratory Services, Atlanta, Georgia.

出版信息

Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):151-164. doi: 10.1002/ajmg.c.31614. Epub 2018 May 15.

DOI:10.1002/ajmg.c.31614
PMID:29761639
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6705603/
Abstract

Holoprosencephaly (HPE) is a major structural birth defect of the brain that occurs in approximately 1 in 10,000 live births. Although some genetic causes of HPE are known, a substantial proportion of cases have an unknown etiology. Due to the low birth prevalence and rarity of exposure to many potential risk factors for HPE, few epidemiologic studies have had sufficient sample size to examine risk factors. A 2010 review of the literature identified several risk factors that had been consistently identified as occurring more frequently among cases of HPE, including maternal diabetes, twinning, and a predominance of females, while also identifying a number of potential risk factors that had been less widely studied. In this article, we summarize a systematic literature review conducted to update the evidence for nongenetic risk factors for HPE.

摘要

无脑回畸形（HPE）是一种主要的脑结构出生缺陷，在大约每 10000 例活产中发生 1 例。虽然已知 HPE 的一些遗传原因，但很大一部分病例的病因不明。由于 HPE 的出生率低，且暴露于许多潜在 HPE 危险因素的情况罕见，因此很少有流行病学研究有足够的样本量来检查危险因素。2010 年对文献的回顾确定了一些一致被认为在 HPE 病例中更频繁发生的危险因素，包括母体糖尿病、双胞胎和女性居多，同时也确定了一些较少广泛研究的潜在危险因素。在本文中，我们总结了一项系统的文献综述，旨在更新非遗传因素与 HPE 的相关性证据。

相似文献

[1]
Nongenetic risk factors for holoprosencephaly: An updated review of the epidemiologic literature.

Am J Med Genet C Semin Med Genet. 2018-5-15

[2]
Non-genetic risk factors for holoprosencephaly.

Am J Med Genet C Semin Med Genet. 2010-2-15

[3]
Epidemiology of holoprosencephaly: Prevalence and risk factors.

Am J Med Genet C Semin Med Genet. 2010-2-15

[4]
Clinical epidemiologic study of holoprosencephaly in South America.

Am J Med Genet A. 2007-12-15

[5]
Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

Am J Med Genet C Semin Med Genet. 2011-10-17

[6]
Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control study.

Am J Med Genet A. 2012-3-14

[7]
Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study.

Am J Med Genet C Semin Med Genet. 2010-2-15

[8]
Holoprosencephaly: the Maastricht experience.

Genet Couns. 2001

[9]
Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.

Environ Health. 2020-6-8

[10]
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.

Radiographics. 2015

引用本文的文献

[1]
Alobar Holoprosencephaly in a Newborn: A Case Report of Prenatal Diagnosis and a Review of the Literature.

Cureus. 2024-11-25

[2]
A male fetus with cyclopia was discovered after miscarriage: A rare case report from Syria.

Clin Case Rep. 2024-3-10

[3]
Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings.

J Clin Med. 2023-8-18

[4]
Holoprosencephalia, hypoplasia of corpus callosum and cerebral heterotopia in a male belted Galloway heifer with adipsia.

BMC Vet Res. 2022-1-20

[5]
Concepts in Multifactorial Etiology of Developmental Disorders: Gene-Gene and Gene-Environment Interactions in Holoprosencephaly.

Front Cell Dev Biol. 2021-12-22

[6]
Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.

Birth Defects Res. 2021-1-1

[7]
mutation and fetal alcohol converge on Nodal signaling in a mouse model of holoprosencephaly.

Elife. 2020-9-2

[8]
A Deletion in is Associated with a Heritable Forebrain Commissural Malformation Concurrent with Ventriculomegaly and Interhemispheric Cysts in Cats.

Genes (Basel). 2020-6-19

[9]
Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.

Environ Health. 2020-6-8

本文引用的文献

[1]
Thyroid Medication Use and Birth Defects in the National Birth Defects Prevention Study.

Birth Defects Res. 2017-7-31

[2]
Ethanol itself is a holoprosencephaly-inducing teratogen.

PLoS One. 2017-4-25

[3]
Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report.

J Med Case Rep. 2016-12-20

[4]
Maternal autoimmune disease and birth defects in the National Birth Defects Prevention Study.

Birth Defects Res A Clin Mol Teratol. 2016-11

[5]
Associations between maternal periconceptional exposure to secondhand tobacco smoke and major birth defects.

Am J Obstet Gynecol. 2016-11

[6]
Twinning and major birth defects, National Birth Defects Prevention Study, 1997-2007.

J Epidemiol Community Health. 2016-11

[7]
Dose-dependent teratogenicity of the synthetic cannabinoid CP-55,940 in mice.

Neurotoxicol Teratol. 2016

[8]
Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother.

J Clin Diagn Res. 2015-5

[9]
The National Birth Defects Prevention Study: A review of the methods.

Birth Defects Res A Clin Mol Teratol. 2015-8

[10]
Birth defects in pregestational diabetes: Defect range, glycemic threshold and pathogenesis.

World J Diabetes. 2015-4-15

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