Experience of prenatal consultation in Zaporizhzhia region over the 2011-2015 years

Authors

  • N. V. Avramenko Zaporizhzhia State Medical University,
  • H. A. Lomeyko Zaporizhzhia State Medical University,
  • O. A. Nikiforov Zaporizhzhia State Medical University,
  • O. S. Sukhonos Zaporizhzhia State Medical University,

DOI:

https://doi.org/10.14739/2409-2932.2016.2.71118

Keywords:

Сongenital Abnormalitis, Prenatal Diagnosis, Genetic Services, Prenatal Screening

Abstract

Congenital malformations are one of the main causes of high infant mortality and disability from childhood. Medical and genetic counseling is an important integral part of prenatal diagnosis.

Aim. The experience of the work of prenatal consultation at the clinic of Zaporizhzhya Regional Center of Human Reproduction for the 2011- 2015 years has been analyzed. Modern methods of prenatal diagnosis, including mass and selective testing of pregnant women on birth defects and chromosomal abnormalities by ultrasound examination and evaluation of maternal serum markers, as well as prenatal, cytogenetic diagnosis of chromosomal diseases in high-risk groups have been used for the early detection and prevention of birth of children with hereditary diseases in the Zaporizhzhia region.

Methods and results. 2,528 Pregnant women with suspected congenital malformations of the fetus have been examined. To adequately assess the perinatal prognosis and develop tactics of pregnancy in the early neonatal period the diagnosis of pregnant women included consultation of geneticist, obstetrician - gynecologist, others specialists. Malformations of the fetus have been identified in 1.435 pregnant women.

Conclusions. To identify chromosomal aberrations and congenital malformations in the fetus the prenatal consultation defines: the forecast for the life and health of the child, the tactics of pregnancy and birth, postnatal correction.

Multiple malformations in the fetus and congenital central nervous system development occupy the first place in the structure of abortion during the observed period (2011-2015 years). 

References

Medvedev, M. V. (2000) Prenatal'naya diagnostika vrozhdennykh porokov razvitiya v rannie sroki beremennosti [Prenatal diagnosis of congenital malformations in early pregnancy]. Moscow: Real Time. [in Russian].

Petrikovskij, B. M, Medvedev, M. V., & Yudina, E. V. (1999) Vrozhdennye poroki razvitiya: prenatal'naya diagnostika i taktika [Congenital malformation: prenatal diagnosis and tactics]. Moscow: Real'noe vremya. [in Russian].

Yudina, E. V., & Medvedev, M. V. (2002) Akusherstvo i ginekologiya [Obstetrics and Gynecology]. Moscow. [in Russian].

Ajlamazyana, E′. K., & Baranova, V. S. (Eds) (2007) Prenatal'naya diagnostika nasledstvennykh i vrozhdennykh boleznej [Prenatal diagnosis of congenital and hereditary diseases]. Moscow: MEDpress-inform. [in Russian].

(2003) Nakaz Ministerstva okhorony zdorovia Ukrainy «Pro udoskonalennia medyko-henetychnoi dopomohy v Ukraini» vid 31.12.2003 r. №641/84 [Order of the Ministry of Health of Ukraine On improvement of medical genetics in Ukraine from December 31, 2003 №641/84]. [in Ukrainian].

Kozlova, S. I., Demikova, N. S., Semanova, E., & Blinnikova, O. E. (1996) Nasledstvennye sindromy i mediko-geneticheskoe konsul'tirovanie [Hereditary syndromes, medical and genetic counseling]. Moscow. [in Russian].

Sukhikh, G. T., Karetnikova, N. A., Shubina, E. S., Baranova, E. E., Korostin, D. O., Ekimov, A. N. et al. (2015) Neinvazivnaya prenatal'naya diagnostika aneuploidij metodom vysokoproizvoditel'nogo sekvenirovaniya (NGS) v gruppe zhenshhin vysokogo riska [Noninvasive prenatal diagnosis of aneuploidies by next- generation sequencing (NGS) in a group of high-risk women]. Akusherstvo i ginekologiya, 4, 5–10. [in Russian].

Tetruashvili, N. K., Parsadanyan, N. G., Fedorova, N. I., Trofimov, D. Y., & Shubina, E. S. (2014) Neinvazivnaya prenatal'naya diagnostika aneuploidij metodom sekvenirovaniya vnekletochnoj DNK. Sovremennyj vzglyad na problemu [Noninvasive prenatal diagnosis of aneuploidy by sequencing of the extracellular DNA. The modern view on the problem]. Akusherstvo i ginekologiya, 10, 4–7. [in Russian].

Kazerouni, N. Nelly, et al. (2014) Prenatal'nyj skrining khromosomnykh anomalij s ispol'zovaniem trojnogo markera [Prenatal screening for chromosomal abnormalities using the triple marker]. Reproduktivnaya e′ndokrinologiya, 2(16), 84–90. [in Ukrainian].

Veropotvelyan, N. P., & Poguljaj, Yu. S. (2014) Sovremennye tendencii optimizacii modeli i strategii prenatal'nogo skrininga lhromosomnykh aneuploidij [Modern trends in optimization models and strategies of prenatal screening for chromosomal aneuploidies]. Medicinskie aspekty zdorov'ya zhenshhiny, 10, 56–63. [in Ukrainian].

Grechanina, E. Yu., Romadina, O. V., Babadzhanjan, E. N., & Kuksova, L. A. (1998) Prekoncepcionnaya profilaktika vrozhdennykh porokov razvitiya i samoproizvol'nykh abortov [Preconception prevention of birth defects and miscarriages]. Kharkiv. [in Ukrainian].

Barashnev, Yu. I., Baharev, V. A., & Novikov, P. V. (2004) Diagnostika i lechenie vrozhdennykh i nasledstvennykh zabolevanij u detej (putevoditel' po klinicheskoj genetike) [Diagnosis and treatment of congenital and hereditary diseases in children (Guide to Clinical Genetics)]. Moscow: Triad-X. [in Russian].

Veropotvelyan, N. P., & Bondarenko, A. A. (2015) Ul'trazvukovaya prenatal'naya diagnostika pravostoronnej i dvojnoj dugi aorty (analiz 56 nabljudenij) [Prenatal ultrasound diagnosis of right-sided and double aortic arch (analisis of 56 cases)]. Zdorov'e zhenshhiny, 3, 140–152. [in Ukrainian].

Batrak, N. V., Malyshkina, A. I. Sotnikova, N. Yu., & Kroshkina, N. V. (2015) Kliniko-immunologicheskie osobennosti beremennykh s privychnym nevynashivaniem v anamneze [Clinical and immunological features of pregnant women with a history of recurrent miscarriage]. Rossijskij vestnik akushera-ginekologa, 15(3), 35–39. [in Russian].

Masyakina, A. A., Emelianova, I. A., & Plotko, I. S. (2014) Opyt prenatal'noj diagnostiki dekstrokardij [Prenatal Diagnosis of the Dextrocardia]. Ul'trazvukovaya i funkcional'naya diagnostika, 6, 71–76. [in Russian].

Proschenko, O. M. (2015) Prohnozuvannia nevynoshuvannia vahitnosti na osnovi otsinky henetychnykh ta hemostaziolohichnykh predyktoriv (Avtoref. dis…kand. med. nauk). [Forecasting miscarriage based on genetic evaluation and hemostasis predictors]. (Extended abstract of candidate’s thesis). Kyiv [in Ukrainian].

Tutchenko, T. N (2015) Nevynashivanie beremennosti [Miscarriage]. Reproduktivnaya e′ndokrinologiya, 2, 62–64. [in Ukrainian].

Sherbina, N. A., Borodaj, I. S., Salem Nasser Almaradat Mu'awiya (2015) Immunologicheskie aspekty privychnogo nevynashivaniya beremennosti pri istmiko-cervikal'noj nedostatochnosti [Immunological aspects of recurrent miscarriage with cervical incompetence]. Neonatolohiia, khirurhiia ta perynatalna medytsyna, 5(1), 79–80. [in Ukrainian].

Bashmakova, N. V., Tret'iakova, T. B., & Demchenko, N. S. (2013) Citogeneticheskie narusheniya pri nerazvivayushhejsya beremennosti [Cytogenetic disorders in embryos during non-developing pregnancy]. Rossijskij vestnik akushera-ginekologa, 4, 18–21. [in Russian].

Golovachev, G. D. (2003) Nasledstvennost' cheloveka i vnutriutrobnaya gibel' [Human Heredity and fetal deaths]. Moscow: Medicine. [in Russian].

Tavokina, L. V. (2014) Reproduktivnaya genetika. Algoritm molekulyarno-citogeneticheskoj diagnostiki [Reprogenetics. algorithm molecular cytogenetic diagnostics]. Zdorov'e zhenshhiny, 6(92), 106. [in Ukrainian].

Kuznecova, T. V., Loginova, Y. A., & Chiryaeva, O. G., et al. (2009) Citogeneticheskie metody [Cytogenetic methods]. Medicinskie laboratornye tehnologii. T. 2., (P. 550–578). A.I. Karpishchenko (Ed.). Moscow. [in Russian].

How to Cite

1.
Avramenko NV, Lomeyko HA, Nikiforov OA, Sukhonos OS. Experience of prenatal consultation in Zaporizhzhia region over the 2011-2015 years. Current issues in pharmacy and medicine: science and practice [Internet]. 2016Jun.10 [cited 2024Apr.27];(2). Available from: http://pharmed.zsmu.edu.ua/article/view/71118

Issue

Section

Original research