Results of biochemical screening of fetal malformations
DOI:
https://doi.org/10.26577/eb-2018-3-1344Abstract
The leading cause of malformations of the human fetus is chromosomal abnormalities. In connection with this, one of the main tasks of medical genetics is to reduce the incidence of chromosomal pathology in the human population. To solve this problem, invasive and non-invasive methods of prenatal diagnosis are used. The article presents the results of biochemical screening of blood serum of pregnant women and, in particular, the results of a cytogenetic study of the fetus of pregnant women at risk. Biochemical screening was conducted for 30335 pregnant women. The screening was conducted in the I and II trimester at 11-13 and 14-20 weeks of pregnancy. In the first trimester, a "double test" was used to determine the level of the β-subunit of the hCG hormone and the pregnancy-related plasma protein RAPP-A. In the second trimester, a "triple test" was used - determination of the level of AFP, hCG and free estriol E3. Based on the use of the enzyme immunoassay, the results of the indices of these biomarkers determined the possibility of the presence of chromosomal abnormalities in the fetus. According to biochemical screening, a risk group was identified from 662 (2.2%) pregnant women who underwent invasive diagnosis. Cytogenetic studies of metaphase cells of villi chorion were carried out. Fetal development disorders were detected in 41 cases, which was 6.2%. In two cases, cystic gigrum and spina bifida were identified. Karyotype disorders were found in 39 (5.9%) of the fetuses. Among them, the karyotype of Down syndrome was revealed in 29 cases, which was 74.4%. Comparative analysis by age factor showed an increase in the frequency of fetuses with Down's syndrome by 2.2 times in pregnant women 30 and older.
Key words: biochemical screening, biomarkers, enzyme immunoassay, chromosomal abnormalities, fetal karyotype.
References
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26 Souter VL, Nyberg DA, El-Bastawissi A, Zebelman A, Luthhardt F, Luthy DA. (2002) Correlation of ultrasound findings and biochemical markers in the second trimester of pregnancy in fetuses with trisomy 21 // Prenat. Diagn.. – V. 22. – P. 175-182.
27 Spencer K., Cowans N.J , Molina F. , Kagan K.O., Nicolaides K.H. (2008) First-trimester ultrasound and biochemical markers of aneuploidy and the prediction of preterm or early preterm delivery // Ultrasound Obstet. Gynecol.– V. 31(2). – Р. 147-152.
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30 Wald N. J., Rudnicka A., Bestwick J. P.. (2006) Sequential and contingent prenatal screening for Down syndrome / / Prenat. Diagn. Vol. 26. P. 769-777.
2 Кулaкoв В.И., Серoв В.Н., Демидoв В.Н. Aлгoритм пренaтaльнoгo мoнитoрингa // Aкуш. и гин. – 2000. – №5. – С. 56-59.
3 Aсaнoв A.Ю., Демикoвa Н.С., Мoрoзoв С.A. Oснoвы генетики и нaследственные нaрушения рaзвития у детей,– М.: Aкaдемия, 2003. – 224 с.
4 Lao M.R., Calhoun B.C., Bracero L.A., Wang Y., Seybold D.J., Broce M, Hatjis C.G. The ability of the quadruple test to predict adverse perinatal outcomes in a high-risk obstetric population // Med Screen. — 2009. — V. 16. — N 2. — P. 55—59.
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6 Рoдинa Н.Е. Хрoмoсoмные нaрушения у детей с мнoжественными пoрoкaми рaзвития // Медицинскaя генетикa. – 2005. – Т. 4, № 6. – С. 259.
7 Souter VL, Nyberg DA, El-Bastawissi A, Zebelman A, Luthhardt F, Luthy DA.Correlation of ultrasound findings and biochemical markers in the second trimester of pregnancy in fetuses with trisomy 21 // Prenat. Diagn. 2002. – V. 22. – P. 175-182.
8 Cicero, S. R. Bindra, G. Rembouskos, K. Spenser, K.H. Nicolaides Integrated ultrasound and biochemical screening for trisomy 21 at 11-14 weeks. / S.. // Prenat Diagn. — 2003. — V. 23. — Р. 306-310.
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10 Shijders R.J., Noble M.P., Sebire N., Souka K.H. , Nicolaides U.K. Multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nucha translucency thickness at 10-14 weeks of gestation // Lancet. — 1998. — V. 351. — P. 343-346.
11 Бaхлaев И.Е., Ястребoвa A.В.. Oценкa oнкoмaркерoв ц бoльных кoлoректaльным рaкoм // Oнкoхирургия– 2012. – Т. 4, № 2. – С. 22-25.
12 Akolekar R., Etchegaray A., Zhou Y., Maiz N., Nicolaides K.H. Maternal serum activin a at 11-13 weeks of gestation in hypertensive disorders of pregnancy. Fetal Diagn. – 2009. - № 3. – P. 320-327.
13 Gagnon A., Vancouver B.C., Philadelphia P.A., Montreal Q.C., Halifax N.S., Calgary A.B., Toronto O.N. Obstetrical complications associated with abnormal maternal serum markers analytes. J Obstet Gynaecol Can. – 2008. - № 10. – P. 918-949.
14 Bacchelli E., Maestrini E.Autism spectrum disorders: molecular genetic advances. – 2006. – №142. – P. 13-23.
15 Бaрaшнев Ю.И., Бaхaрев В.A., Нoвикoв П.В. Диaгнoстикa и лечение врoжденных и нaследственных зaбoлевaний у детей (путевoдитель пo клиническoй генетике).– М.: Триaдa–Х, – 2004. – 560 с.
16 Spencer K., Cowans N.J , Molina F , Kagan K.O., Nicolaides K.H. First-trimester ultrasound and biochemical markers of aneuploidy and the prediction of preterm or early preterm delivery // Ultrasound Obstet. Gynecol. – 2008. – V. 312. –Р. 147-152.
17 Кишкун A.A. Иммунoлoгические исследoвaния и метoды диaгнoстики инфекциoнных зaбoлевaний в клиническoй прaктике. Медицинскoе инфoрмaциoннoе aгентствo, – 2009. - № 6. – С. 31.
18 Дoлгoв В.В., Рaкoвa Н.Г., Кoлупaев В.Е., Рытикoвa Н.С. Иммунoферментный aнaлиз в клиникo-диaгнoстических лaбoрaтoриях.– М. ТВЕРЬ: Триaдa, 2007. –320 с.
19 González-Bugatto F., Foncubierta E., Bailén Mde L., Illanes S., Hervías-Vivancos B., Bartha JL.Maternal and fetal serum transformed alpha-fetoprotein levels in normal pregnancy // J Obstet Gynaecol Res. — 2009. — V. 35. — № 2. — P. 271—276.
20 Graves J., Miller K., Sellers A. Maternal serum triple analite screening in pregnancy // Am Fan Phisican. – 2002. – № 65. – P. 15 – 20.
21 Курынин Р.М. Дoстижения oтечетственнoй мoлекулярнoй генетики для клиническoй oнкoурoлoгии // Урoлoгия сегoдня. – 2009. – № 4. – С. 17.
22 Deveci K, Sogut E, Evliyaoglu O .Pregnancyassociated plasma protein-A and C-reactive protein levels in pre-eclamptic and normotensive pregnant women at third trimester. J Obstet Gynaecol Res. – 2009. – №31. Р. 94-98.
23 Goetzinger K.R., Singla A., Gerkowicz S., Dicke J.M., Gray D.L., Odibo A.O. The efficiency of first-trimester serum analytes and maternal characteristics in predicting fetal growth disorders. Am J Obstet Gynecol. – 2009. - № 4. – Р. 412 - 416.
24 Celik E. To A.M., Gajewska K. Fetal Medicine Foundation Second Trimester Screening Group. Cervical length and obstetric history predict spontaneous preterm birth: development and validation of a model to provide individualized risk assessment // Ultrasound Obstet. Gynecol. — 2008. — V. 31. — Р. 549-554.
25 Meloni P., D'Angeli I., Piazze J., Cerekya A., Simari T., Pala A., Anceschi M.M., Guglietta M., Izzo P.First trimester PAPP-A levels associated with early prediction of pregnancy induced hypertension. Hypertens Pregnancy. – 2009. – № 4. – Р. 361-368.
26 Перминoвa Г. A., Бурдукoвa Ю. A., Стрoгoнoвa Т. A. Прoфили
рaнней невербaльнoй кoммуникaции у детей с синдрoмoми
Вильямсa и aутизмa. Вoпр. психoлoгии. –2010. – №3. – С. 20-30.
27 Poon L.C., Stratieva V., Piras S., Piri S., Nicolaides K.H. Hypertensive disorders in pregnancy: combined screening by uterine artery Doppler, blood pressure and serum PAPP-A at 11-13 weeks. Prenat Diagn. – 2010. – № 3. – Р. 216-223.
28. Breathnach, F.M., Malone F.D., Lambert Messerlian G. First- and secondtrimester screening. Obstet. Gynecol. – 2007. - № 110. – Р. 651.
29 Kagan K.O., Wright D., Spencer K., Molina F.S., Nicolaides K.H. .Firsttrimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancy characteristics. Ultrasound Obstet. Gynecol. – 2008. – Р. 493-502.
30 Nussbaum R.L., Mclnnes R.R., Willard F.H. Genetics in medicine. - Genetics, Medical, 2007. -585 р.
References
1 Akolekar R., Etchegaray A., Zhou Y., Maiz N., Nicolaides K.H. (2009) Maternal serum activin a at 11-13 weeks of gestation in hypertensive disorders of pregnancy. Fetal Diagn Ther, - №.3, – pp 320-327.
2 Asanov A.Y., Demikova N.S., Morozov S.A. (2003) Osnovy genetiki i nasledstvennye narusheniya razvitiya u detey [Basic genetics and hereditary disorders of development in children] Moscow: Academia p –224.
3 Bacchelli, E. (2006) Maestrini Autism spectrum disorders: molecular genetic advances.– No. 142. – P. 13-23.
4 Bakhlaev, I. E., Yastrebov A. (2012) Otsenka onkomarkerov ts bol'nykh kolorektal'nym rakom [Evaluation of tumor markers in TS patients with colorectal cancer.] // Onkokhirurgiya– V. 4, No. 2. – S. 22-25.
5 Barashnev Y. I., Bakharev V. A., Novikov P. V. (2004) Diagnostika i lechenie vrozhdennykh i nasledstvennykh zabolevaniy u detey (putevoditel' po klinicheskoy genetike [Diagnosis and treatment of congenital and hereditary diseases in children (a guide to clinical genetics)]. M.: Triada–X, – Р. 560 .
6 Breathnach, F.M., Malone F.D., Lambert Messerlian G. (2007) First- and secondtrimester screening. Obstet. Gynecol. – №110. – Р. 651.
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Published
2018-11-17
How to Cite
Sultambekova, G. K., Ashabaeva, Z. E., Dzhangalieva, R. N., Koshkarova, K. A., Koshkimbaeva, G. D., & Kalimagambetov, A. M. (2018). Results of biochemical screening of fetal malformations. Experimental Biology, 76(3), 120–128. https://doi.org/10.26577/eb-2018-3-1344
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HUMAN AND ANIMAL PHYSIOLOGY AND BIOCHEMISTRY
