Kariotypes of fetus based on screening of biochemical markers in the blood serum of pregnant women of the risk group
71 80
Keywords:
protein РАРР-А, hormone β-hCG, protein AFP, hormone free estriol, biochemical research, prenatal diagnosis, fetal karyotypeAbstract
The article presents the data on of prenatal diagnosis of biochemical screening and cytogenetic examinations in 2015-2016. According to the results of biochemical screening, the mother's age factor, ultrasound examination, congenital malformation in the family history, etc.,1800 pregnant women were referred to invasive diagnostics. Cytogenetic studies of the fetus were conducted including 1240 (68,9%) pregnant women. Of these, in karyotypes of 84 fetuses, chromosomal abnormalities were detected, which composed 7.8%. In 2015, according to the results of 607 invasive diagnostics in 43 fetuses (7.1%), and in 2016 - out of 633 invasive diagnoses in 41 fetuses (6,5%), deviations of the karyotype were determined. In 81 (96.4%) cases, numerical disorders were observed, of them in 6 (7.1%) cases - violations in the system of sex chromosomes. In 3 (3.6%) cases structural abnormalities of chromosomes were noted. In 13 (13.4%) of the fetuses, neural tube development defects were detected. In 2015, taking into account the age factor, in pregnant women under 35 years, abnormalities of the karyotype of the fetus reached 51.9%, and at the age of 35 years - 48.1%, and in 2016 – 66,6% and 33,3%, respectively. An increase in the frequency of karyotypic fetal dysfunction is fixed to be 1,1 times in 2015 and 2,0 times in 2016.
References
1. Приказ Министра здравоохранения Республики Казахстан от 19 марта 2012 года № 183 «Об утверждении «Дорожной карты» по организации пренатального скрининга в Республике Казахстан» http://continent-online.com/Document/?doc_id=31214706
2. Абдрахманов А.Б. Оценка экономических потерь в результате преждевременной смертности трудоспособного населения в Республике Казахстан//Денсаулықcақтауды дамыту журналы.Астана. – 2012. – Т.2, №63. – С.58-66.
3. Shaffer I.G., Van D.V. New technologies for assessment of chromosomes in prenatal diagnosis. Prenatal Diagnosis. – 2012. –T3,№32. – Р. 307-309.
4. Шубина К.А., Шумкова П.В. Пренатальная диагностика / Вестник совета молодых ученых и специалистов Челябинской области. – 2016. – Т.3, №14. –C. 54-59.
5. Miriam S., Joyce E., Maurice J. Prenatal Diagnosis: Cases & Clinical Challenges: Wiley-Blackwell. –2011. –T5,№1. – Р.136.
6. Subrata D. Prenatal diagnosis and screening for Down syndrome: Published by InTech.–2011. –T2, №1. – Р. 232.
7. Akolekar R., Syngelaki A., Beta J., Kocylowski R., Nicolaides K.H. Maternal serum placental protein 13 at 11–13 weeks of gestation in preeclampsia // Prenatal Diagnosis. – 2009. – Vol. 29. – №15. –Р. 16-24.
8. Spencer K. First-trimester ultrasound and biochemical markers of aneuploidy and the
prediction of preterm or early preterm delivery // Ultrasound Obstet. Gynecol. – 2008. – Vol. 31. – Р. 20-36.
9. Филатова А.Е., Игнатьева А.Е.Методы проведения биохимического скрининга впренатальной диагностике/Вестник Национального технического университета. Харьковский политехнический институт. Серия: Информатика и моделирование. – 2007. – T1, №19. – С. 191-194.
10. Brugger-Andersen T. The activity of pregnancy-associated plasma protein A (PAPP-A) as expressed by immunohistochemistry in atherothrombotic plaques obtained by aspiration thrombectomy in patients presenting with a ST-elevation myocardial infarction: a brief communication,– 2010. – №8.– Р.1-5.
11. Goetzinger K.R., Singla A., Gerkowicz S. The efficiency of first-trimester serum analytes and maternal characteristics in predicting fetal growth disorders // Am. J. Obstet. Gynecol. –2009.–Vol. 201, №4.– Р. 1-6
12. Souka A.P. A predictive model of short cervix at 20-24 weeks using first-trimester cervical length measurement and maternal history // Prenatal Diagnosis. – 2011. – Vol. 31. – Р. 202-206.
13.Gonzаlez-Bugatto F., Foncubierta E., Bailеn M.L. Maternal and fetal serum transformed alpha-fetoprotein levels in normal pregnancy // J. Obstet. Gynaecol. Res. – 2009. – Vol.35, № 2. – P. 271-276.
14. ОщепковаО.М., Семинский И.Ж. Профилактика наследственной патологии: пренатальная диагностика. Сибирский медицинский журнал. ¬– 2009. ¬– №3. ¬ – С. 5¬-10. ¬
15. Михеева Е.М., Пенкина Н.И.Здоровье детей, рожденных с использованием вспомогательных репродуктивных технологий /Практическая медицина. – 2014. – Т. 85.№9. – С. 47-51.
16. Woolf A.S., Stuart H.M., Newman W.G. Genetics of human con ge nital urinary bladder disease //J. Pediat. Nephrol. – 2013. –Vol. 2, №13.– Р. 236-238.
17. Shiefa S. First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free β-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome //Biochem.– 2013. –Vol. 28, №1. – P. 3-12.
18. Рoon L.C.First-trimester maternal serum pregnancy-associated plasma protein-Aand pre-eclampsia // Ultrasound Obstet. Gynecol. – 2009. –Vol. 33, № 1. – P. 23-33.
19. Breathnach F.M., Malone F.D., Lambert-MesserlianG.First and secondtrimester screening // Obstet. Gynecol.– 2007. –№8.– Р.110-651.
20. Kagan K.O., Wright D., Spencer K. Firsttrimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancycharacteristics //Ultrasound Obstet.Gynecol. – 2008. –№31. – Р. 493-502.
21. Рубцов Н.Б., Карамышева Т.В., Гайнер Т.А. Современные методы молекулярно-цитогенетического анализа и диагностика хромосомной патологии. Геномика медицине. – М.: Академ книга. – 2005. – С. 219-244.
References
1. Prikaz Ministra zdravookhraneniya Respubliki Kazakhstan (2012) №183 «Ob utverzhdenii «Dorozhnoy karty» po organizatsii prenatalnogo skrininga v Respublike Kazakhstan» [Order of the Minister of health of the Republic of Kazakhstan dated 19 March 2012 No. 183 "On approval of the Road map on the organization of prenatal screening in the Republic of Kazakhstan"]
http://continent-online.com/Document/?doc_id=31214706
2. Abdrakhmanov A.B. (2012) Otsenka ekonomicheskikh poter v rezultate prezhdevremennoy smertnosti trudosposobnogo naseleniya v Respublike Kazakhstan [Estimation of economic losses due to premature mortality of able-bodied population in the Republic of Kazakhstan].Densaulyksaktaudydamytuzhurnaly. Astana,vol.2, no 63, pp. 58-66.
3. Schaeffer I.G., Van D.V. (2012) New technologies for assessment of chromosomes in prenatal diagnosis. Prenatal Diagnosis, vol.3, no 32, pp. 307-309.
4. Shubinа K.A., Shumkovа P.V. (2016) Prenatalnaya diagnostika [Prenatal diagnosis]. Vestnik soveta molodykh uchenykh i spetsialistov Chelyabinskoy oblasti, vol.3, no 14, pp. 54-59.
5. Miriam S., Joyce E., Maurice J. (2011) Prenatal Diagnosis.Cases And Clinical Challenges Wiley-Blackwell,vol.5, no 1, pp. 136.
6. Subrata D. (2011) Prenatal diagnosis and screening for down syndrome: Published by InTech,vol.2, no 1, pp. 232.
7. Akolekar R., Syngelaki A., Beta J., Kocylowski R., Nicolaides K.H (2009) Maternal serum placental protein 13 at 11–13 weeks of gestation in preeclampsia // Prenatal Diagnosis,vol.29, no 15, pp. 16-24.
8. Spencer K. (2008) First-trimester ultrasound and biochemical markers of aneuploidy and the
prediction of preterm or early preterm delivery // Ultrasound Obstet. Gynecol.vol.31, pp. 20-36.
9. Filatova A.E., Ignatiev A.E. (2007) Metody provedeniya biokhimicheskogo skrininga vprenatalnoy diagnostike [Methods of biochemical screening in prenatal diagnosis]. Vestnik Natsionalnogo tekhnicheskogo universiteta Kharkovskiy politekhnicheskiy institut. Seriya: Informatikaimodelirovaniye,vol.1, no 19, pp. 191-194.
10. Brugger-Andersen T. (2010) The activity of pregnancy-associated plasma protein A (PAPP-A) as expressed by immunohistochemistry in atherothrombotic plaques obtained by aspiration thrombectomy in patients presenting with a ST-elevation myocardial infarction: a brief communication. Prenatal Diagnosis,vol.8, pp. 1-5.
11. Goetzinger K.R, Singla A., Gerkowicz S.(2009) The efficiency of first-trimester serum analytes and maternal characteristics in predicting fetal growth disorders. Am. J.Obstet.Gynecol.vol.201, no 4, pp. 1-6.
12. Souka A.P. (2011) А рredictive model of short cervix at 20-24 weeks using first trimester measurement of cervical length and maternal history // Prenatal diagnosis,vol.31,pp. 202-206.
13. Gonzаlez-Bugatto F., Foncubierta E., Bailеn M.L. (2009) Maternal and fetal serum transformed alpha-fetoprotein levels in normal pregnancy // J. Obstet. Gynaecol. Res,vol.35, no 2, pp. 271-276.
14. OshchepkovaO.M., Seminsky I.J. (2009)Profilaktikanasledstvennoypatologii: prenatalnayadiagnostika [Prevention of hereditary pathology: prenatal diagnosis]. Sibirskiymeditsinskiyzhurnal, no 3, pp. 5-10.
15. Mikheeva E.M., Penkin N.I.(2014) Zdorovyedetey. rozhdennykh s ispolzovaniyem v spomogatelnykh reproduktivnykh tekhnologiy [Health of children born using assisted reproductive technologies]. Prakticheskayameditsina,vol.85, no 9, pp. 47-51.
16. Woolf A.S., Stuart H.M., Newman W.G. (2013) Genetics of human con ge nital urinary bladder disease //J. Pediat. Nephrol,vol.2, no 13, pp. 236-238.
17. Shiefa S. (2013) First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free β-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome //Biochem,vol.28, no 1, pp. 3-12.
18. Рoon L.C.(2009) First-trimester maternal serum pregnancy-associated plasma protein-Aand pre-eclampsia // Ultrasound Obstet.Gynecol, vol.33, no 1, pp. 23-33.
19. Breathnach F.M., Malone F.D., Lambert-Messerlian G. (2007) First and secondtrimester screening // Obstet. Gynecol,no 8, pp. 110-651.
20. Kagan K.O., Wright D., Spencer K. (2008) Firsttrimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancycharacteristics //Ultrasound Obstet.Gynecol,no 31, pp. 493-502.
21. Rubtsov N.B., Karamysheva T.V., Gayner T.A. (2005) Sovremennyie metodyi molekulyarno-tsitogeneticheskogo analiza i diagnostika hromosomnoy patologii [Modern methods of molecular cytogenetic analysis and diagnosis of chromosomal pathology] Genomika meditsine. - Moscow: Academic book, рр. 219-244.
2. Абдрахманов А.Б. Оценка экономических потерь в результате преждевременной смертности трудоспособного населения в Республике Казахстан//Денсаулықcақтауды дамыту журналы.Астана. – 2012. – Т.2, №63. – С.58-66.
3. Shaffer I.G., Van D.V. New technologies for assessment of chromosomes in prenatal diagnosis. Prenatal Diagnosis. – 2012. –T3,№32. – Р. 307-309.
4. Шубина К.А., Шумкова П.В. Пренатальная диагностика / Вестник совета молодых ученых и специалистов Челябинской области. – 2016. – Т.3, №14. –C. 54-59.
5. Miriam S., Joyce E., Maurice J. Prenatal Diagnosis: Cases & Clinical Challenges: Wiley-Blackwell. –2011. –T5,№1. – Р.136.
6. Subrata D. Prenatal diagnosis and screening for Down syndrome: Published by InTech.–2011. –T2, №1. – Р. 232.
7. Akolekar R., Syngelaki A., Beta J., Kocylowski R., Nicolaides K.H. Maternal serum placental protein 13 at 11–13 weeks of gestation in preeclampsia // Prenatal Diagnosis. – 2009. – Vol. 29. – №15. –Р. 16-24.
8. Spencer K. First-trimester ultrasound and biochemical markers of aneuploidy and the
prediction of preterm or early preterm delivery // Ultrasound Obstet. Gynecol. – 2008. – Vol. 31. – Р. 20-36.
9. Филатова А.Е., Игнатьева А.Е.Методы проведения биохимического скрининга впренатальной диагностике/Вестник Национального технического университета. Харьковский политехнический институт. Серия: Информатика и моделирование. – 2007. – T1, №19. – С. 191-194.
10. Brugger-Andersen T. The activity of pregnancy-associated plasma protein A (PAPP-A) as expressed by immunohistochemistry in atherothrombotic plaques obtained by aspiration thrombectomy in patients presenting with a ST-elevation myocardial infarction: a brief communication,– 2010. – №8.– Р.1-5.
11. Goetzinger K.R., Singla A., Gerkowicz S. The efficiency of first-trimester serum analytes and maternal characteristics in predicting fetal growth disorders // Am. J. Obstet. Gynecol. –2009.–Vol. 201, №4.– Р. 1-6
12. Souka A.P. A predictive model of short cervix at 20-24 weeks using first-trimester cervical length measurement and maternal history // Prenatal Diagnosis. – 2011. – Vol. 31. – Р. 202-206.
13.Gonzаlez-Bugatto F., Foncubierta E., Bailеn M.L. Maternal and fetal serum transformed alpha-fetoprotein levels in normal pregnancy // J. Obstet. Gynaecol. Res. – 2009. – Vol.35, № 2. – P. 271-276.
14. ОщепковаО.М., Семинский И.Ж. Профилактика наследственной патологии: пренатальная диагностика. Сибирский медицинский журнал. ¬– 2009. ¬– №3. ¬ – С. 5¬-10. ¬
15. Михеева Е.М., Пенкина Н.И.Здоровье детей, рожденных с использованием вспомогательных репродуктивных технологий /Практическая медицина. – 2014. – Т. 85.№9. – С. 47-51.
16. Woolf A.S., Stuart H.M., Newman W.G. Genetics of human con ge nital urinary bladder disease //J. Pediat. Nephrol. – 2013. –Vol. 2, №13.– Р. 236-238.
17. Shiefa S. First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free β-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome //Biochem.– 2013. –Vol. 28, №1. – P. 3-12.
18. Рoon L.C.First-trimester maternal serum pregnancy-associated plasma protein-Aand pre-eclampsia // Ultrasound Obstet. Gynecol. – 2009. –Vol. 33, № 1. – P. 23-33.
19. Breathnach F.M., Malone F.D., Lambert-MesserlianG.First and secondtrimester screening // Obstet. Gynecol.– 2007. –№8.– Р.110-651.
20. Kagan K.O., Wright D., Spencer K. Firsttrimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancycharacteristics //Ultrasound Obstet.Gynecol. – 2008. –№31. – Р. 493-502.
21. Рубцов Н.Б., Карамышева Т.В., Гайнер Т.А. Современные методы молекулярно-цитогенетического анализа и диагностика хромосомной патологии. Геномика медицине. – М.: Академ книга. – 2005. – С. 219-244.
References
1. Prikaz Ministra zdravookhraneniya Respubliki Kazakhstan (2012) №183 «Ob utverzhdenii «Dorozhnoy karty» po organizatsii prenatalnogo skrininga v Respublike Kazakhstan» [Order of the Minister of health of the Republic of Kazakhstan dated 19 March 2012 No. 183 "On approval of the Road map on the organization of prenatal screening in the Republic of Kazakhstan"]
http://continent-online.com/Document/?doc_id=31214706
2. Abdrakhmanov A.B. (2012) Otsenka ekonomicheskikh poter v rezultate prezhdevremennoy smertnosti trudosposobnogo naseleniya v Respublike Kazakhstan [Estimation of economic losses due to premature mortality of able-bodied population in the Republic of Kazakhstan].Densaulyksaktaudydamytuzhurnaly. Astana,vol.2, no 63, pp. 58-66.
3. Schaeffer I.G., Van D.V. (2012) New technologies for assessment of chromosomes in prenatal diagnosis. Prenatal Diagnosis, vol.3, no 32, pp. 307-309.
4. Shubinа K.A., Shumkovа P.V. (2016) Prenatalnaya diagnostika [Prenatal diagnosis]. Vestnik soveta molodykh uchenykh i spetsialistov Chelyabinskoy oblasti, vol.3, no 14, pp. 54-59.
5. Miriam S., Joyce E., Maurice J. (2011) Prenatal Diagnosis.Cases And Clinical Challenges Wiley-Blackwell,vol.5, no 1, pp. 136.
6. Subrata D. (2011) Prenatal diagnosis and screening for down syndrome: Published by InTech,vol.2, no 1, pp. 232.
7. Akolekar R., Syngelaki A., Beta J., Kocylowski R., Nicolaides K.H (2009) Maternal serum placental protein 13 at 11–13 weeks of gestation in preeclampsia // Prenatal Diagnosis,vol.29, no 15, pp. 16-24.
8. Spencer K. (2008) First-trimester ultrasound and biochemical markers of aneuploidy and the
prediction of preterm or early preterm delivery // Ultrasound Obstet. Gynecol.vol.31, pp. 20-36.
9. Filatova A.E., Ignatiev A.E. (2007) Metody provedeniya biokhimicheskogo skrininga vprenatalnoy diagnostike [Methods of biochemical screening in prenatal diagnosis]. Vestnik Natsionalnogo tekhnicheskogo universiteta Kharkovskiy politekhnicheskiy institut. Seriya: Informatikaimodelirovaniye,vol.1, no 19, pp. 191-194.
10. Brugger-Andersen T. (2010) The activity of pregnancy-associated plasma protein A (PAPP-A) as expressed by immunohistochemistry in atherothrombotic plaques obtained by aspiration thrombectomy in patients presenting with a ST-elevation myocardial infarction: a brief communication. Prenatal Diagnosis,vol.8, pp. 1-5.
11. Goetzinger K.R, Singla A., Gerkowicz S.(2009) The efficiency of first-trimester serum analytes and maternal characteristics in predicting fetal growth disorders. Am. J.Obstet.Gynecol.vol.201, no 4, pp. 1-6.
12. Souka A.P. (2011) А рredictive model of short cervix at 20-24 weeks using first trimester measurement of cervical length and maternal history // Prenatal diagnosis,vol.31,pp. 202-206.
13. Gonzаlez-Bugatto F., Foncubierta E., Bailеn M.L. (2009) Maternal and fetal serum transformed alpha-fetoprotein levels in normal pregnancy // J. Obstet. Gynaecol. Res,vol.35, no 2, pp. 271-276.
14. OshchepkovaO.M., Seminsky I.J. (2009)Profilaktikanasledstvennoypatologii: prenatalnayadiagnostika [Prevention of hereditary pathology: prenatal diagnosis]. Sibirskiymeditsinskiyzhurnal, no 3, pp. 5-10.
15. Mikheeva E.M., Penkin N.I.(2014) Zdorovyedetey. rozhdennykh s ispolzovaniyem v spomogatelnykh reproduktivnykh tekhnologiy [Health of children born using assisted reproductive technologies]. Prakticheskayameditsina,vol.85, no 9, pp. 47-51.
16. Woolf A.S., Stuart H.M., Newman W.G. (2013) Genetics of human con ge nital urinary bladder disease //J. Pediat. Nephrol,vol.2, no 13, pp. 236-238.
17. Shiefa S. (2013) First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free β-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome //Biochem,vol.28, no 1, pp. 3-12.
18. Рoon L.C.(2009) First-trimester maternal serum pregnancy-associated plasma protein-Aand pre-eclampsia // Ultrasound Obstet.Gynecol, vol.33, no 1, pp. 23-33.
19. Breathnach F.M., Malone F.D., Lambert-Messerlian G. (2007) First and secondtrimester screening // Obstet. Gynecol,no 8, pp. 110-651.
20. Kagan K.O., Wright D., Spencer K. (2008) Firsttrimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancycharacteristics //Ultrasound Obstet.Gynecol,no 31, pp. 493-502.
21. Rubtsov N.B., Karamysheva T.V., Gayner T.A. (2005) Sovremennyie metodyi molekulyarno-tsitogeneticheskogo analiza i diagnostika hromosomnoy patologii [Modern methods of molecular cytogenetic analysis and diagnosis of chromosomal pathology] Genomika meditsine. - Moscow: Academic book, рр. 219-244.
Downloads
How to Cite
Muratova, T. M., Ashabayeva, Z. E., Dzhangalieva, R. N., Koshkarova, B. A., Mirzahmetova, D. D., & Kalimagambetov, A. M. (2017). Kariotypes of fetus based on screening of biochemical markers in the blood serum of pregnant women of the risk group. Experimental Biology, 72(3), 42–53. Retrieved from https://bb.kaznu.kz/index.php/biology/article/view/1278
Issue
Section
МOLECULAR BIOLOGY AND GENETICS
