E.Yu. YUPATOV

Kazan State Medical Academy, 36 Butlerov St., Kazan, Russian Federation, 420012 

Yupatov E.Yu. ― Cand. Med. Sc., Associate Professor of the Department of Obstetrics and Gynecology №1, tel. +7-917-873-87-21, e-mail: evguenii@yahoo.com

The article presents the main risk factors that lead to the formation of fetal malformations, prevention techniques. The stages and order of comprehensive prenatal screening in the first and second trimesters of pregnancy are described. Methods for invasive prenatal diagnosis of fetal malformations are specified.

Key words: pregnant women, prenatal screening, diagnostic methods for malformation.

 

 

REFERENCES

1. Congenital anomalies. Fact sheet #370. April, 2015, available at: http://www.who.int/mediacentre/factsheets/fs370/en/ (accessed: 02.02.2016).

2. Kulakov V.I. New technologies and research priorities in obstetrics and gynecology. Ginekologiya, 2007, vol. 09, no. 1, pp. 1-3 (in Russ.).

3. Frederic Amar, Thomas Rio Frio, Vuk Dernja. Medical Information, available at: http://genoma.com (accessed: 02.02.2016).

4. Teplyakova O.V., Zubkov V.V., Pyregov A.V. et al. Features of obstetric and gynecological history and risk factors for women forming vistsero-abdominal imbalances in fetuses with gastroschisis. Akusherstvo i ginekologiya, 2015, no. 9, pp. 42-46 (in Russ.).

5. Baranov V.S., Kuznetsova T.V., Ivashchenko T.E. et al. Sovremennye algoritmy prenatal’noy diagnostiki nasledstvennykh bolezney: metodicheskie rekomendatsii [Modern algorithms for prenatal diagnosis of hereditary diseases: methodological recommendations]. Saint Petersburg: Izd-vo N-L, 2009. 80 p.: il. (Series Ex libris “Zhurnal akusherstva i zhenskikh bolezney”).

6. Teregulova L.E., Vafina Z.I., Abuseva A.V. et al. nalysis of mass centralized prenatal screening results I trimester of pregnancy in the Republic of Tatarstan for 2012. Prakticheskaya meditsina, 2013, vol. 2, no. 1-2 (in Russ.).

7. Toktarova O.A., Teregulova L.E., Abuseva A.V. et al. Diagnosis of pathology of the central nervous system of the fetus within the trimester prenatal screening I modulo FMF. Prakticheskaya meditsina, 2014, no. 3 (in Russ.).

8. Bernard J.P., Cuckle H.S., Stirnemann J.J., Salomon L.J., Ville Y. Screening for fetal spina bifida by ultrasound examination in the first trimester of pregnancy using fetal biparietal diameter. Am. J. Obstet. Gynecol, 2012, May 18 [Medline].

9. Hsu J.J., Hsieh T.T., Hsieh F.J. Down syndrome screening in an Asian population using alpha-fetoprotein and free beta-hCG: a report of the Taiwan Down Syndrome Screening Group. Obstet. Gynecol, 1996, Jun, 87 (6), pp. 943-7 [Medline].

10. Bogart M.H., Pandian M.R., Jones O.W. Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities. Prenat. Diagn, 1987, Nov, 7 (9), pp. 623-30 [Medline]

11. Prenatal’nyy skrining [Prenatal screening], 2016, available at: http://testresult.org/pregnancy/testpregnancy/screening (accessed: 02.02.2016).

12. Nuchal scan, 2016, available at: http://www.fetalmedicine.com/nuchal-scan (accessed: 02.02.2016).

13. ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet. Gynecol, 2007, 109, pp. 217-227.

14. Commentary: The Right Way to Use Noninvasive Prenatal ‘Tests’ Margaret B. Menzel, MS, accessed: http://www.medscape.com/viewarticle/838933#vp_2

15. Wang B.B., Rubin C.H., Williams J. 3rd. Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases. Prenat. Diagn, 1993, Mar, 13 (3), pp. 179-90 [Medline].

16. Daffos F., Capella-Pavlovsky M., Forestier F. Fetal blood sampling during pregnancy with use of a needle guided by ultrasound: a study of 606 consecutive cases. Am. J. Obstet. Gynecol, 1985, Nov 15, 153 (6), pp. 655-60 [Medline].

17. Cullen M.T., Reece E.A., Whetham J., Hobbins J.C. Embryoscopy: description and utility of a new technique. Am. J. Obstet. Gynecol, 1990, Jan, 162 (1), pp. 82-6. [Medline].

18. Simpson J.L., Elias S. Fetal skin, liver and muscle sampling. Simpson JL, Elias S, eds. Essentials of Prenatal Diagnosis. Churchill Livingstone Inc; 1993. 77 p.