Ультразвуковые маркеры хромосомных аномалий плода в 11–14 нед беременности и их значение в эпоху современных генетических исследований

Средний возраст женщины на момент рождения первого ребенка продолжает увеличиваться, что повышает риск хромосомных аномалий у плода. В установленном Приказом № 1130н МЗ РФ протоколе скрининга в 11–14 нед беременности оцениваются такие ультразвуковые маркеры хромосомной патологии, как толщина воротникового пространства, визуализация носовой кости, пульсационный индекс в венозном протоке, трикуспидальная регургитация, частота сердечных сокращений. Также нарастает значимость и неинвазивного пренатального тестирования (НИПТ) в ранней пренатальной диагностике наиболее распространенных хромосомных аномалий, а именно трисомий 21, 18, 13, моносомии XO. Вместе с тем многочисленные прочие нарушения кариотипа плода также можно заподозрить при УЗИ в 11–14 нед на основании выявления ряда других ультразвуковых признаков. В данной публикации нами проведен анализ лите ратуры, посвященной поиску дополнительных ультразвуковых маркеров различ ных как более, так и менее распространенных хромосомных аномалий. Рассмотрены патологические изменения, а также особенности анатомии плода и внеплодовых структур в I триместре, которые могли бы использоваться в качестве дополнительных ультразвуковых маркеров хромосомной патологии со стороны центральной нервной системы и головы, сердца и сосудов, мочевыделительной системы, органов брюшной полости, скелета плода, а также плаценты, пуповины, амниотических оболочек. Несмотря на применение НИПТ, в том числе его расширенных панелей, сохраняется необходимость в использовании УЗИ для определения маркеров более редких, но не менее значимых хромосомных патологий, таких как триплоидии, мозаичные формы трисомий, редкие аутосомные трисомии, дупликации и делеции.

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