Noninvasive prenatal testing in Russia: a population study
- Authors: Kudryavtseva E.V.1, Kanivets I.V.2, Kievskaya J.K.2, Baranov I.I.3, Kovalev V.V.1, Korostelev S.A.4
-
Affiliations:
- Ural State Medical University, Ministry of Health of Russia
- OOO "Genomed"
- Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
- I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia
- Issue: No 12 (2019)
- Pages: 28-33
- Section: Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/248638
- DOI: https://doi.org/10.18565/aig.2019.12.30-35
- ID: 248638
Cite item
Open Access
Access granted
Abstract
Objective. To evaluate the efficiency of DNA-based noninvasive prenatal test (NIPT) in identifying major aneuploidies in Russia. Subjects and methods. The investigation enrolled 27,845patients who had undergone NIPT in 2013-2018. The patients’ mean age was 34.2±3.63 years; the mean gestational age at which the women underwent NIPT was 15 weeks and 2 days’ gestation. Results and discussion. Various NIPTs in Russia in 2013-2018 revealed a high risk of fetal chromosomal anomalies in 739 (2.6%) cases, 733 (99.18%) of them underwent invasive prenatal diagnosis, the presence of fetal chromosomal abnormalities was not confirmed in 12 (1.63%) cases. False negative results were 0.014%. The initial study could not yield a NIPT result in 1322 (4.7%) patients because of a low fetal fraction; however, the repeat study was effective in 80.1% of them. Conclusion. NIPT is a more accurate study than standard combined prenatal screening and has high sensitivity and specificity for trisomies 13, 18, and 21.
Full Text
About the authors
Elena V. Kudryavtseva
Ural State Medical University, Ministry of Health of Russia
Email: elenavladpopova@yandex.ru
Ilya V. Kanivets
OOO "Genomed"
Email: dr.kanivets@genomed.ru
Julia K. Kievskaya
OOO "Genomed"
Email: jk@genomed.ru
Igor I. Baranov
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: i_baranov@oparina4.ru
Vladislav V. Kovalev
Ural State Medical University, Ministry of Health of Russia
Email: vvkovalev55@gmail.com
Sergey A. Korostelev
I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia
Email: korostelevsa@sesana.ru
References
- Alysse M., Minear M.A., Berson E., Sridhar S., Rote M., Hung A. Non-invasive prenatal testing: a review of international implementation and challenges. Int J Womens Health. 2015; 7:113-26. doi: 10.2147/IJWH.S67124
- Неинвазивный пренатальный ДНК-скрининг анеуплоидий плода по крови матери методом высокопроизводительного секвенирования. Клинические рекомендации. Акушерство и гинекология. 2016; 6. doi: 10.18565/aig.2016.6.recomendations
- Norton M.E., Jacobsson B., Swamy G.K., Laurent L.C., Ranzini A.C., BrarH.,et al. Cell-free DNA analysis for noninvasive examination of trisomy. N. Engl. J. Med. 2015; 372(17): 1589-97. doi: 10.1056/NEJMoa1407349
- Nikolaides K.N., Syngelaki A., Gil M., Atanasova V., Markova D. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn. 2013; 33: 575-9. doi: 10.1002/pd.4103
- Nicolaides K. H., Syngelaki A., Ashoor G., Birdir C., Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol. 2012; 207: 374: e1-6. doi: 10.1016/j.ajog.2012.08.033
- Cell-free DNA screening for fetal aneuploidy. ACOG commetee opinion. N640, 2015. doi: 10.1097/AOG.0000000000001051.
- Баранова Е.Е., Беленикин М.С., Жученко Л.А., Ижевская В.Л. Неинвазивные пренатальные тесты: европейские и американские рекомендации по применению в клинической практике. Медицинская генетика. 2017; 16(8): 3-10.
- Pos O., Budis J., Szemes T. Recent trends in prenatal genetic screening and testing. F1000Res. 2019; 8: pii: F1000 Faculty Rev-764. doi: 10.12688/ f1000research.16837.1.
- Prefumo F., Paolini D., Speranza G., Palmisano M., Dionisi M., Camurri L. The contingent use of cell-free fetal DNA for prenatal screening of trisomies 21, 18, 13 in pregnant women within a national health service: A budget impact analysis. PLoS One. 2019; 14(6): e0218166. doi: 10.1371/ journal.pone.0218166
- Трофимов Д.Ю. Вопросы правового регулирования в области репродуктивной генетики. В кн.: Мохов А.А., Сушкова О.В., ред. Право и современные технологии в медицине. М.: РГ-Пресс, 2019: 89-90.
- Анализ результатов раннего пренатального скрининга в Российской Федерации АУДИТ-2018. Информационно-справочные материалы. Москва, 2018.
- Lee D.E., Kim H., Park J., Yun T., Park D.Y., Kim M., et al. Clinical Validation of Non-Invasive Prenatal Testing for Fetal Common Aneuploidies in 1,055 Korean Pregnant Women: a Single Center Experience. J Korean Med Sci. 2019; 34(24): e172. doi: 10.3346/jkms.2019.34.e172
- Кудрявцева Е.В., Ковалев В.В., Канивец И.В., Киевская Ю.К., Коростелев С.А. Free-DNA плода: опыт популяционного скрининга хромосомной патологии в России. Вопросы гинекологии, акушерства и перинатологии. 2019; 18(30): 46-51. doi: 10.20953/1726-16782019-3-46-51
- ACMG 2016 Update on Noninvasive Prenatal Testing for Fetal Aneuploidy: Implications for India. J. fetal. med. 2017: 4(1): 1-6. doi: 10.1007/s40556-017-0116-4
- Шубина Е.С., Барков И.Ю., Ступко О.К., Кузнецова М.В., Крашенинникова Р.В., Ким Л.В., Тетруашвили Н.К., Гольцов А.Ю., Кочеткова Т.О., Мукосей И.С., Каретникова Н.А., Бахарев В.А., Трофимов Д.Ю. Мозаицизм плода как причина ложноотрицательного результата неинвазивногопренатального ДНК-скринингаанеуплоидийпо 21-й хромосоме. Акушерство и гинекология. 2018; 11: 31-34. doi: 10.18565/aig.2018.11.31-34.
- Ying X., Guodong Z., Hong L., Qin Z., Jiafeng L., Bin Y., et al. Non- invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies. Mol Cytogenet. 2019; 12: 29. doi: 10.1186/s13039-019-0441-5
- Karge A., Graupner O., Abel K., Kuschel B. Maternal Tumor Disease as a Reason for Repeated Test Failure in Cell-Free DNA Screening. Z Geburtshilfe Neonatol. 2019; 223(3): 179-83. doi: 10.1055/a-0850-0650.
- Palomaki G. E., Kloza E.M., O’Brien B.M., Eklund E.E., Lambert-Messerlian G.M. The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy popularion. Genetics in Medicine. 2017; 19(7): 778-86. doi: 10.1038/ gim.2016.194.
- Qiao L., Zhang Q., Liang Y.,, Gao A., Ding Y., Zhao N., et al. Sequencing of short cfDNA fragments in NIPT improves fetal fraction with higher maternal BMI and early gestational age. Am J Transl Res. 2019; 11(7): 4450-9. PMC6684886.
Supplementary files
