Структурные аномалии плода как ультразвуковые маркеры риска расстройства аутистического спектра: нарративный обзор литературы

ВВЕДЕНИЕ: Расстройство аутистического спектра (РАС) представляет собой полиэтиологичное нарушение нейропсихического развития, распространенность которого в мире неуклонно растет. Ранняя диагностика имеет решающее значение для эффективного вмешательства, однако существующие методы часто не позволяют своевременно выявить это заболевание. Данные современных исследований свидетельствуют, что пренатальные биомаркеры, включая структурные аномалии плода, выявляемые в ходе ультразвукового исследования (УЗИ), могут стать инструментом для более ранней оценки риска развития РАС.

ЦЕЛЬ: Обобщить современные данные о пренатальных аномалиях плода, выявляемых с помощью УЗИ и ассоциированных с РАС, и оценить возможность использования данных аномалий в качестве ранних предикторов.

МЕТОДЫ: Был проведен комплексный поиск литературы в научных базах данных PubMed, Scopus и Google Scholar за 2007–2025 гг. с использованием ключевых слов «расстройство аутистического спектра (autism spectrum disorder)», «пренатальное УЗИ (prenatal ultrasound)», «аномалии плода (fetal anomalies)», «преэклампсия (preeclampsia)», «нейроразвитие (neurodevelopment)» и «биомаркеры (biomarkers)». При отборе публикаций приоритет отдавался наиболее релевантным и методологически качественным работам, включая систематические обзоры и крупные когортные исследования. Отобранные статьи были прочитаны полностью, а их основные результаты обобщены в описательной форме. Синтез информации сосредоточен на области применения существующих данных, характеристике аномалий, выявляемых при пренатальном УЗИ, их связи с РАС, а также на согласованности и противоречиях в результатах различных исследований.

РЕЗУЛЬТАТЫ: Ряд исследований демонстрирует связь между повышенным риском РАС и такими аномалиями плода, как вентрикуломегалия, увеличение бипариетального диаметра, гиперэхогенные почки и врожденные пороки сердца. Однако эти маркеры неспецифичны для РАС, а их прогностическая ценность существенно варьирует. Чувствительность и специфичность методов диагностики в разных исследованиях также заметно различаются; кроме того, сохраняются этические вопросы, связанные с гипердиагностикой и неравным доступом к медицинской помощи.

ЗАКЛЮЧЕНИЕ: Пренатальное УЗИ обладает потенциалом для раннего выявления риска развития РАС, но его точность в настоящее время недостаточна для постановки диагноза. Для повышения прогностической ценности и клинической значимости данных пренатального УЗИ необходима их интеграция с результатами генетического тестирования и постнатального наблюдения, а также стандартизация протоколов и проведение дальнейших исследований в этой области.

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