MEDICAL GENETIC COUNSELING OF WOMEN WITH CONGENITAL HEART DISEASES OF FETUS

Yevheniya Sharhorodska, Nadiya Helner, Natalia Prokopchuk, Halyna Makukh

Abstract


Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..

Materials and methods. The analysis of the results of medical genetic counseling of pregnant women with fetal heart diseases was carried out. The effectiveness of using different methods of prenatal diagnosis in 67 pregnant women is estimated. The data of somatic, genealogical and reproductive anamnesis, biochemical markers of chromosomal pathology of the 1st and 2nd trimester of pregnancy, and the spectrum of the detected fetal heart disease were studied.

Results of the research. It was found that 46 (68.7 %) women had somatic diseases: pathology of the cardiovascular system (11.9 %); endocrine system - at 8 (11,9 %); respiratory disease – 3 (4.5 %) and urinary system – 2 (3.0 %). 13 (19.4 %) out of 67 women had acute respiratory viral infections in the first trimester of pregnancy. In 4 (6 %) cases - bad habits. The first time pregnant were 31 (46.3 %) women, 21 (31.3 %) – the second time, 10 (14.9 %) in the third, and 5 (7.5 %) in the fourth or more times. In history, 58 (86.6 %) women did not have reproductive function disorders, 8 (11.9 %) had unauthorized miscarriages and frozen pregnancy. The burden of gynecological anamnesis was observed in 12 (17.9 %) women, and hereditary - in 6 (9.0 %) women. In the structure of congenital defects of the heart, false anatomical anomalies were found more often: hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot - 9 (13.3 %). Biochemical markers of chromosomal pathology in the first trimester in 11 (16.4 %) women recorded indicators that are characteristic of the risk of chromosomal pathology, and in the second trimester – in 9 (13.4 %). Two pregnant women used a NIPT (non-invasive prenatal test) test that did not detect chromosomal abnormalities in the fetus. In 8 cases, invasive prenatal diagnosis of the fetus was recommended, which was carried out by three women, and five refused.

Conclusions. The peculiarities of somatic (in 46–68.7 % of women), reproductive (in 8-11.9 % of women) gynecological anamnesis (in 12–17.9 % of women), which can be the risk factors of congenital fetal heart disease, are revealed. In the structure of congenital defects of the heart of the fetus more often revealed hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot – 9 (13.3 %). In 11 (16.4 %) women recorded indicators of biochemical markers, characteristic for the risk of chromosomal pathology, in the first trimester, and – in 9 (13.4 %) pregnant women – in the second trimester. Comparative data on prenatal diagnosis of congenital heart defects in the fetus of chromosomal, monogenic and multifactorial etiology are given. On the basis of the obtained results an algorithm of medical-genetic counseling of this contingent of patients was offered.


Keywords


prenatal diagnosis; medical genetic counseling; congenital heart defects

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References


Kaleschke, G., Baumgartner, H. (2011). Pregnancy in congenital and valvular heart disease. Heart, 97 (21), 1803–1809. doi: http://doi.org/10.1136/heartjnl-2011-300369

Reich, J. D., Haight, D., Reich, Z. S. (2017). A comparison of the incidence of undiagnosed congenital heart disease in hospital born and home born children. Journal of Neonatal-Perinatal Medicine, 10 (1), 71–77. doi: http://doi.org/10.3233/npm-1651

Avramenko, N. V., Nikiforov, O. A., Sukhonos, O. S., Lomeyko, Ye. A., Barkovskiy, D. E., Kabachenko, Ye. V. et. al. (2013). Analiz chastoty obnaruzheniya vrozhdennyh porokov serdca pri provedenii prenatal'noi diagnostiki v Zaporozhskoi oblasti [AnalysisofthefrequencyofdetectionofcongenitalheartdefectsduringprenataldiagnosisintheZaporozhyeregion]. Zaporozhskiy meditsinskiy zhurnal, 3 (78), 5–8.

Klymenko, T. M., Sorokolat, Yu. V., Karapetyan, O. Yu. (2014). Rezervy vedennya ditej iz vrodzhenymy vadamy sercya [Reserves for the management of children with congenital heart disease]. Perynatologіya y pedyatrіya, 2, 106–109.

Pidvysotska, N. I. (2015). Suchasni pryntsypy ta problemy medyko-henetychnoho konsultuvannia [Modern principles and problems of medical genetic counseling]. Klinichna ta eksperymentalna patolohiуa, ХІV (2 (52)), 244–247.

Markin, L. B., Medviedieva, O. S. (2013). Udoskonalennia diagnostyky anomalii sertsia plodu pid chas rutynnoho skryningovoho ultrazvukovoho doslidzhennia [Improvement of diagnosis of fetal heart abnormalities during routine screening ultrasonography]. Lvivskyi klinichnyi visnyk, 3 (3), 41–44.

Su, W., Zhu, P., Wang, R., Wu, Q., Wang, M., Zhang, X. et. al. (2016). Congenital heart diseases and their association with the variant distribution features on susceptibility genes. Clinical Genetics, 91 (3), 349–354. doi: http://doi.org/10.1111/cge.12835

Saperova, E. V., Vahlova, I. V. (2017). Congenital Heart Diseases in Children: Incidence, Risk Factors, Mortality. Current Pediatrics, 16 (2), 126–133. doi: http://doi.org/10.15690/vsp.v16i2.1713

Batra, P., Higgins, C., Chao, S. M. (2015). Previous Adverse Infant Outcomes as Predictors of Preconception Care Use: An Analysis of the 2010 and 2012 Los Angeles Mommy and Baby (LAMB) Surveys. Maternal and Child Health Journal, 20 (6), 1170–1177. doi: http://doi.org/10.1007/s10995-015-1904-x

Honchar, M. O., Boichenko, A. D. (2018). Suchasnyi pidkhid do diahnostyky sertsevo-sudynnyh rozladiv u novonarodzhenyh iz hrup perynatalnoho ryzyku v neonatalnyi period [Modern approach to the diagnosis of cardiovascular disorders in newborns from perinatal risk groups in the neonatal period]. Zdorovia dytyny, 13 (1), 11–21.

Protsiuk, O. V., Lynchak, O. V., Syzonenko, O. V., Pokanevych, T. M. (2013). Vrozhdennye poroki krovoobrashcheniya sredi novorozhdennyh. [Congenital malformations of blood circulation among newborns]. Voprosy prakticheskoi pediatrii, 8 (3), 8–12.

Demidova, N. S., Rybalka, A. N. (2012). Povyshenie ehffektivnosti prenatalnoi diagnostiki vrozhdennyh porokov razvitiya i nasledstvennyh zabolevanii ploda [Increase the efficiency of prenatal diagnosis of congenital malformations and hereditary diseases of the fetus]. Tavricheskii mediko-biologicheskii vestnik, 2 (1), 93–97.

Horbatiuk, O. M., Liaturynska, O. V. (2014). Orhanizatsiia ta perspektyvy rozvytku perynatalnoi dopomohy v Ukraini [Organization and prospects of development of perinatal carein Ukraine]. Neonatolohiуa, khirurhiуa ta perynatalna medytsyna, IV (4 (14)), 5–10.

Page, J. M., Silver, R. M. (2016). Genetic Causes of Recurrent Pregnancy Loss. Clinical Obstetrics and Gynecology, 59 (3), 498–508. doi: http://doi.org/10.1097/grf.0000000000000217

Njim, T. (2016). Late Pregnancy Outcomes among Women who Attended and Women who did not Attend First Trimester Antenatal Care Visits in a Suburban Regional Hospital in Cameroon. International Journal of MCH and AIDS (IJMA), 5 (1), 14–23. doi: http://doi.org/10.21106/ijma.80

Borelli, M., Baer, R. J., Chambers, C. D., Smith, T. C., Jelliffe-Pawlowski, L. L. (2016). Critical congenital heart defects and abnormal levels of routinely collected first- and second-trimester biomarkers. American Journal of Medical Genetics Part A, 173 (2), 368–374. doi: http://doi.org/10.1002/ajmg.a.38013

Till, S. R., Everetts, D., Haas, D. M. (2015). Incentives for increasing prenatal care use by women in order to improve maternal and neonatal outcomes. Cochrane Database of Systematic Reviews, 12, 2228–2231. doi: http://doi.org/10.1002/14651858.cd009916.pub2

Kovalenko, O. S., Lepokhina, H. S., Zazarkhov, O. Yu., Zlepko, S. M. (2016). Klasyfikatsiia ryzykiv perynatalnoho periodu zhyttia novonarodzhenykh [Classification of the risk of perinatal life of newborns]. Environment & Health, 4, 52–54.

Connor, J. A., Hinton, R. B., Miller, E. M., Sund, K. L., Ruschman, J. G., Ware, S. M. (2013). Genetic Testing Practices in Infants with Congenital Heart Disease. Congenital Heart Disease, 9 (2), 158–167. doi: http://doi.org/10.1111/chd.12112

Lastivka, I. V., Shvygar, L. V., Sharapa, V. I. (2015). Etiologichni osoblyvosti rozvytku urodzhenyр vad sercya [Etiological features of development of congenital heart defects]. Suchasni tendenciyi rozvytku medychnoyi nauky ta medychnoyi praktyky, 50–52.

Boguta, L. Yu., Rudenko, N. N., Emets, І. N. (2013). Hirurgichne likuvannya vrodzhenyh sercevyh zahvoryuvan u novonarodzhenyh [Surgical Treatment Of Congenital Heart Diseases In Infants]. Sovremennaya Pediatriya, 7, 145–147.

Medvedyev, M. V., Davydova, Yu. V. (2016). Profilaktyka perynatalnyh vtrat: na shlyahu do personalizovanoyi medycyny [Prevention of Perinatal Loss: On the Way to Personalized Medicine]. Perinatologiya i pediatriya, 1 (65), 59–65.




DOI: http://dx.doi.org/10.21303/2504-5679.2019.00845

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