PRENATAL DIAGNOSTICS IN THE I TRIMESTER OF PREGNANCY: THE CURRENT STATE OF THE PROBLEM

Abstract

Prenatal diagnosis is one of the priority areas of modern obstetrics. Improving diagnostic capabilities, the introduction of new methods gradually led to the fact that the first trimester of pregnancy became a full-fledged diagnostic stage in assessing the condition of the fetus, identifying genetic problems and a significant number of malformations. Understanding the value of the proposed methods, the sequence of their use, the accuracy of the results are extremely important for the choice of management for a particular pregnancy.

Keywords

pregnancy / prenatal diagnostics / first trimester screening / non-invasive prenatal testing (NIPT), cell-free DNA / genetic syndromes / fetal abnormalities / ultrasound diagnostics

References

[1] Gray K.J., Wilkins-Haug L.E. Have we done our last amniocentesis? Updates on cell-free DNA for Down syndrome screening. Pediatr. Radiol. 2018; 48(4): 461-70. doi: 10.1007/s00247-017-3958-y

[2] Hill M., Johnson J.A., Langlois S., Lee H., Winsor S., Dineley B. et al. Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals. Eur. J. Hum. Genet. 2016; 24(7): 968-75. doi:10.1038/ejhg.2015.249

[3] Gil M.M., Accurti V., Santacruz B., Plana M.N., Nicolaides K.H. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet. Gynecol. 2017; 50(3): 302-14. doi: 10.1002/uog.17484

[4] Гинтер Е.К., Пузырева В.П., ред. Наследственные болезни: национальное руководство. М.: ГЭОТАР-Медиа; 2017

[5] Norton M.E., Jacobsson B., Swamy G.K., Laurent L.C., Ranzini A.C., Brar H. et al. Cell-free DNA analysis for noninvasive examination of trisomy. N. Engl. J. Med. 2015; 372(17): 1589-97. doi: 10.1056/NEJMoa1407349

[6] Petersen A.K., Cheung S.W., Smith J.L., Bi W., Ward P.A., Peacock S. et al. Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. Am. J. Obstet. Gynecol. 2017; 217(6): 691.e1-e6. doi: 10.1016/j.ajog.2017.10.005

[7] Dahl F., Ericsson O., Karlberg O., Karlsson F., Howell M., Persson F. et al. Imaging single DNA molecules for high precision NIPT. Sci. Rep. 2018; 8(1): 4549. doi: 10.1038/s41598-018-22606-0

[8] Баранов В.С., Кузнецова Т.В. Цитогенетика эмбрионального развития человека: Научно-практические аспекты. СПб.: Издательство Н-Л; 2007. http://www.med24info.com/books/citogenetika-embrionalnogo-razvitiya-cheloveka-nauchno-prakticheskie-aspekty/

[9] 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.

[10] Van Opstal D., Srebniak M.I. Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration. Expert Rev. Mol. Diagn. 2016;16(5): 513-20. doi: 10.1586/14737159.2016.1152890

[11] Korenromp M.J., Christiaens G.C., van den Bout J., Mulder E.J., Hunfeld J.A., Bilardo C.M. et al. Long-term psychological consequences of pregnancy termination for fetal abnormality: a cross-sectional study. Prenat. Diagn. 2005; 25(3): 253-60.

[12] Kater-Kuipers A., Bunnik E.M., de Beaufort I.D., Galjaard R.J.H. Limits to the scope of non-invasive prenatal testing (NIPT): an analysis of the international ethical framework for prenatal screening and an interview study with Dutch professionals. BMC Pregnancy Childbirth. 2018;18(1): 409. doi: 10.1186/s12884-018-2050-4

[13] Alldred S.K., Takwoingi Y., Guo B., Pennant M., Deeks J.J., Neilson J.P. et al. First trimester ultrasound tests alone or in combination with first trimester serum tests for Down’s syndrome screening. Cochrane Database Syst. Rev. 2017; 3: CD012600. doi: 10.1002/14651858.CD012600

[14] Reimers R.M., Mason-Suares H., Little S.E., Bromley B., Reiff E.S., Dobson L.J. et al. When ultrasound anomalies are present: An estimation of the frequency of chromosome abnormalities not detected by cell-free DNA aneuploidy screens. Prenat. Diagn. 2018; 38(4): 250-7. doi: 10.1002/pd.5233

[15] Society for Maternal-Fetal Medicine (SMFM). Electronic address: [e-mail], Norton M.E., Biggio J.R., Kuller J.A., Blackwell S.C. The role of ultrasound in women who undergo cell-free DNA screening. Am. J. Obstet. Gynecol. 2017; 216(3): B2-B7. doi: 10.1016/j.ajog.2017.01.005

[16] Salomon L.J., Alfirevic Z., Bilardo C.M., Chalouhi G.E., Ghi T., Kagan K.O. et al. ISUOG practice guidelines: performance of first-trimester fetal ultrasound scan. Ultrasound Obstet. Gynecol. 2013; 41(1): 102-13. doi: 10.1002/uog.12342

[17] Karim J.N., Roberts N.W., Salomon L.J., Papageorghiou A.T. Systematic review of first-trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance. Ultrasound Obstet. Gynecol. 2017; 50(4): 429-41. doi: 10.1002/uog.17246

[18] Syngelaki A., Chelemen T., Dagklis T., Allan L., Nicolaides K.H. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks. Prenat. Diagn. 2011; 31(1): 90-102. doi: 10.1002/pd.2642

[19] Sainz J.A., Gutierrez L., García-Mejido J., Ramos Z., Bonomi M.J., Fernández-Palacín A. et al. Early fetal morphological evaluation (11-13 + 6 weeks) accomplished exclusively by transabdominal imaging and following routine midtrimester fetal ultrasound scan recommendations. Since when can it be performed? J. Matern. Fetal Neonatal Med. 2018; 23: 1-11. doi: 10.1080/14767058.2018.1517306

[20] Кучеров Ю.И., Стыгар А.М., Жиркова Ю.В., Борисова Н.И. Пренатальный консилиум при пороках развития плода. Детская хирургия. 2016; 20 (4): 211-5. Doi: 10.18821/1560-9510-2016-20-4-211-215

RIGHTS & PERMISSIONS

Eco-Vector