Важную роль в профилактике врожденной и наследственной патологии играет ранний пренатальный скрининг (РПС), включающий УЗИ, исследование сывороточных маркеров РАРР-А и β-ХГЧ, аудит. Обработка результатов обследования проводилась с помощью программы «Astraia». Анализ результатов РПС в Ивановской области за период 2013-2019 г.г. показал, что при охвате скринингом, в среднем, 85,3% беременных, вставших на учет до 14 недель гестации, выявлено 157 случаев хромосомной патологии и 126 случаев врожденных пороков развития. Однако в 55 случаях хромосомная патология плода не была заподозрена при скрининге, пациентки не попали в группу риска и родили больных детей (все дети имели трисомию 21). При этом в трети случаев (у 19 пациенток - 34,5%) риск трисомии 21 оценивался как промежуточный и находился в интервале от 1:100 до 1:1000, в том числе у 3 женщин (5,5%) - в интервале от 1:100 до 1:300. Мы полагаем, что пациентки с промежуточным значением риска хромосомной патологии плода нуждаются в дальнейшем обследовании с целью верификации диагноза, и их необходимо информировать о возможностях неинвазивного пренатального теста. Early prenatal screening that includes ultrasound diagnostics, study of serum markers of PAPP-A and β-HCG, audit plays an important role in the prevention of congenital and hereditary diseases. The results of the study were processed with «Astraia». Analysis of the results of early prenatal screening in the Ivanovo region for the period 2013-2019 showed that when screening coverage, on average, 85.3% of pregnant women registered before 14 weeks of gestation, 157 cases of chromosomal pathology and 126 cases of congenital malformations were detected. However, in 55 cases, the diagnosis of fetal chromosomal pathology was not suspected during screening, and the patients were not at risk and gave birth to sick children (all children had trisomy 21). At the same time, in 1/3 of cases (in 19 patients - 34.5%), the risk of trisomy 21 was estimated as intermediate and was in the range from 1:100 to 1:1000, including in 3 women (5.5%) - in the range from 1:100 to 1:300. We suppose that patients with an intermediate risk of fetal chromosomal abnormalities need further examination to verify the diagnosis, and they should be informed about the possibilities of a non-invasive prenatal test.
Early combined prenatal screening for frequent chromosomal abnormalities and congenital disorders was organized in the Russian Federation in 2010 on the initiative of the Ministry of Health and Social Development and with the support of the Government of the Russian Federation in accordance with FMF guidelines. The first results achieved in the implementation of the activities of new screening model, and the evaluation of key indicators and the general condition of the early prenatal screening in the regions and the federal districts of Russia are presented.
Early combined prenatal screening for frequent chromosomal abnormalities and congenital disorders was organized in the Russian Federation in 2010 on the initiative of the Ministry of Health and Social Development and with the support of the Government of the Russian Federation in accordance with FMF guidelines. The first results achieved in the implementation of the activities of new screening model, and the evaluation of key indicators and the general condition of the early prenatal screening in the regions and the federal districts of Russia are presented.
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