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

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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.

Ключевые слова:
акушерство и гинекология, пренатальная диагностика, ультразвуковая диагностика, хромосомные аномалии, НИПТ, пренатальный скрининг, ультразвуковые маркеры, obstetrics and gynecology, prenatal diagnosis, ultrasound, chromosomal abnormalities, NIPT, prenatal screening, ultrasound signs

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Ultrasound signs of fetal chromosomal abnormalities at 11–14 weeks of pregnancy and its value in the era of modern genetic testing

A steady increase in average maternity age at the time of first childbirth lead to a higher risk of fetal chromosomal abnormalities. The Order No. 1130n of the Ministry of Health of the Russian Federation establish the screening protocol at 11–14 weeks of gestation with assessing the followed criteria of fetal chromosomal pathology: the nuchal translucency thickness, nasal bone measurement, ductus venosus pulsatility index, tricuspid regurgitation, and heart rate. The value of non-invasive prenatal testing (NIPT) in the early prenatal diagnosis of the most common chromosomal abnormalities, as the trisomies 21, 18, 13, and monosomy X is also increasing. Additionally, numerous other fetal karyotype abnormalities can also be suspected at 11–14 weeks of gestation by revealing a number of other ultrasound signs. The article presents the literature review on additional ultrasound signs of various, both more and less common, chromosomal abnormalities. Pathological signs, abnormalities of fetal anatomy and extrafetal structures in the first trimester, which could be used as additional ultrasound signs of chromosomal pathology of various organs and systems (central nervous system and head, heart and blood vessels, urinary system, abdominal organs, fetal skeleton, as well as the placenta, umbilical cord, amniotic membranes) are described in the article. Despite the use of NIPT, including its extended panels, there remains a need to use ultrasound to detect the signs of rarer, but no less significant chromosomal pathologies, such as triploidies, mosaic trisomies, rare autosomal trisomies, duplications, and deletions.

Keywords:
акушерство и гинекология, пренатальная диагностика, ультразвуковая диагностика, хромосомные аномалии, НИПТ, пренатальный скрининг, ультразвуковые маркеры, obstetrics and gynecology, prenatal diagnosis, ultrasound, chromosomal abnormalities, NIPT, prenatal screening, ultrasound signs