medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2018.12.30-35medgen-609Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHПрогностическая значимость неинвазивных пренатальных тестов в группах женщин с высоким и низким риском анеуплоидии плодаPositive and negative predictive values of noninvasive prenatal tests in group of women with high and low risk of the fetal aneuploidiesГнетецкаяВ. А.GnetetskayaV. A.medgen@rmapo.ruБарановаЕ. Е.BaranovaE. E.noemail@neicon.ruБеленикинМ. С.BelenikinM. S.noemail@neicon.ruТарасоваЮ. А.TarasovaYu. A.noemail@neicon.ruИжевскаяВ. Л.IzevskayaV. L.noemail@neicon.ruКурцерМ. А.KurtserM. A.noemail@neicon.ruФГБОУ ДПО РМАНПО Минздрава РоссииРоссияFederal State Budgetary Educational Institution of Further Professional Education «Russian Medical Academy of Continuous Professional Education» of the Ministry of Healthcare of the Russian FederationRussian FederationФГБОУ ВПО «Московский физико-технический институт (государственный университет)»; ФГБНУ «Медико-генетический научный центр»; ФГБУН Институт общей генетики им. Н.И. Вавилова РАНРоссияMoscow Institute of Physics and Technology (State University); Research Centre for Medical Genetics; Vavilov Institute of General Genetics, Russian academy of scienceRussian FederationМедико-генетический центр группы компаний «Мать и Дитя»РоссияGenetics center of Mother and Child groups of companiesRussian FederationФГБНУ «Медико-генетический научный центр»РоссияResearch Centre for Medical GeneticsRussian FederationФГБОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияPirogov Russian National Research Medical UniversityRussian Federation20180112201817123035Copyright © Гнетецкая В.А., Баранова Е.Е., Беленикин М.С., Тарасова Ю.А., Ижевская В.Л., Курцер М.А., 20182018Гнетецкая В.А., Баранова Е.Е., Беленикин М.С., Тарасова Ю.А., Ижевская В.Л., Курцер М.А.Gnetetskaya V.A., Baranova E.E., Belenikin M.S., Tarasova Y.A., Izevskaya V.L., Kurtser M.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/609

Представлены результаты применения двух наиболее распространенных в России коммерческих неинвазивных пренатальных тестов (НИПТ) - Harmony и Panorama - в группах беременных высокого и низкого риска, сформированных по результатам пренатального скрининга 1 триместра (ПС). Всего проведено 5076 обследований (1710 Harmony и 3366 Panorama), из них группа высокого риска по данным ПС составила 2921 пациентку (1926 Panorama и 995 Harmony), а группа низкого риска - 2155 (1440 Panorama и 715 Harmony). Высокий риск хромосомной патологии плода по результатам НИПТ был определен в 144 наблюдениях, в том числе в 89 по трисомии 21, в 14 по трисомии 18, 10 по трисомии 13 и 26 по патологии половых хромосом. Пренатальное кариотипирование было проведено 134 пациенткам, в 110 случаях выявлены хромосомные аномалии, в одном наблюдении пациентка отказалась от инвазивной пренатальной диагностики, после родов у ребенка диагностирована трисомия 21. У 4930 из 4932 пациенток с низким риском хромосомной патологии плода по данным НИПТ беременности завершились родами ребенком с нормальным фенотипом. В двух наблюдениях отмечены ложноотрицательные результаты НИПТ, доля фетальной ДНК в этих наблюдениях не превышала 4,6%. Рассчитанные значения чувствительности, специфичности, прогностической ценности положительного (ПЦПР) и отрицательного (ПЦОР) результата во всей группе обследованных без стратификации по величине риска хромосомной патологии плода по данным ПС, составили, соответственно 95,2%, 99,3%, 64,5% и 99,9% для Harmony и 98,9%, 99,4%, 83,6%, 99,9% для Panorama, что соответствует заявленным производителями характеристикам. В группе пациенток с высоким риском по данным ПС, значения ПЦПР и ПЦОР для НИПТ Panorama составили 85,6% и 99,9% соответственно и для НИПТ Harmony - 77,3% и 99,9%. В группе пациенток с низким риском были получены ПЦПР 78,9% и ПЦОР 100% для НИПТ Panorama. Для НИПТ Harmony ПЦОР в этой группе составила 100%, а ПЦПР - 37,5%, что можно объяснить более частым назначением этого теста женщинам, у которых беременность наступила в результате ЭКО.

The article describes the results of application of the two most common commercial non-invasive prenatal tests (NIPTs), Harmony and Panorama. The pregnant women were divided into the high and low risk groups due to prenatal screening of the first trimester results. A total number of cases: 5,076 (1710 Harmony and 3366 Panorama), of which 592 twins. High-risk group: 2921 patients: 1926 (Panorama) and 995 (Harmony); low risk group: 2155: 1440 (Panorama) and 715 (Harmony). The high risk of chromosome pathology of the fetus according to the results of NIPT was determined in 144 observations, including 89 for trisomy 21, 14 for trisomy 18, 10 for trisomy 13 and 26 - for the pathology of sex chromosomes. Prenatal karyotyping was performed for 134 patients: for 110 cases chromosomal abnormalities were detected, in one case the patient refused to perform invasive prenatal test (newborn was diagnosed with trisomy 21). For 4,930 patients with low risk of chromosomal pathology of the fetus in according to the, childbirth was completed with a child with normal phenotype. cffDNA for two false-negative cases was less 4.6%. The calculated values of the sensitivity, specificity, and the positive (PPV) and negative (NPV) predictive values in the complete group of tested without stratification for the risk of chromosome pathology of the fetus, calculated from the prenatal screening of the first trimester, were 95.2%, 99.3%, 64.5% and 99.9%, respectively, for Harmony and 98.9%, 99.4%, 83.6%, 99.9% for Panorama, which corresponds to the manufacturer’s specifications. In the group of patients with high risk for prenatal screening of the first trimester, the values of the PPV and NPV were 85.6% and 99.9% for Panorama, respectively, while 73.9% and 99.9% for Harmony. For the group of low-risk patients: for the Panorama a PPV was 78.9%, while NPV was 100%; for the Harmony NPV was 100%, while the PPV - 37.5%. For low-risk women group in both NIPTs low NPV is mainly owing to the presence of false positive results for X monosomy. The obtained results indicate that it is not rationally to perform NIPT to detect aneuploidy on sex chromosomes, especially in the low-risk group for chromosomal pathology the fetus.

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The authors declare that there are no conflicts of interest present.