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Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations
Author(s) -
Adam Aaron P.,
Payton Kurlen S. E.,
SanchezLara Pedro A.,
Adam Margaret P.,
Mirzaa Ghayda M.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62235
Subject(s) - polymicrogyria , neuropathology , hypoxia (environmental) , teratology , neuroscience , fetus , cortical dysplasia , medicine , context (archaeology) , pathology , in utero , pregnancy , biology , disease , epilepsy , paleontology , chemistry , genetics , organic chemistry , oxygen
In this review, we explore evidence that hypoxia in the developing human fetus can lead not only to the more commonly accepted disruptive‐type defects, but also patterns of anomalies that suggest that hypoxia can exert a more classic teratogenic effect, using the brain as one example. We review neuropathology in the context of intrauterine hypoxia, particularly as it relates to carbon monoxide poisoning, in utero strokes, and homozygous alpha‐thalassemia. In general, the associated brain injuries resemble those seen with other causes of hypoxic–ischemic injury. Fetal strokes during development usually lead to loss of brain tissue in areas that do not follow a typical embryologic pattern, and therefore are considered disruptions. However, there is also evidence that fetal brain ischemia can cause more classically recognized patterns of abnormal embryonic neuronal migration and organization such as polymicrogyria, cortical dysplasia, or dysgenesis, including select types of focal cortical dysplasia. This study summarizes available literature and evidence to raise clinicians' awareness regarding the association between hypoxia and congenital anomalies, including brain malformations.