• Down syndrome in woman and her child: a case report

Down syndrome in woman and her child: a case report

SOVREMENNAYA PEDIATRIYA.2018.1(89):110-115; doi 10.15574/SP.2018.89.110

Yemets I. N., Rudenko N. N., Kurkevich A. K., Lytvynenko O. N., Galagan V. A., Kulbalaewa Sh. A., Kurakowa W. W.
Scientific and Practical Centre of Paediatric Cardiology and Cardiosurgery of Ministry of Health of Ukraine, Kyiv, Ukraine
Specialized Medicogenetic Centre of the National Children's Specialized Hospital «OHMATDET» of MH of Ukraine, Kyiv, Ukraine

The clinical case of a 3.5-month-old girl with Down syndrome (regular trisomy), who was born from the mother with a mosaic form of this syndrome, is presented. The child has the characteristic Down syndrome phenotype and congenital heart defect. The surgical operation was performed — ligation of the open ductus arteriosus. Given the increased risk of complications due to congenital heart defect and health status, all children with this syndrome should be provided a genetic examination, geneticist and cardiologist consultations, and screening echocardiography. The article will familiarize paediatricians, cardiologists, family doctors and other specialists with the family case of Down syndrome and the results of surgical correction of congenital heart disease. Early echocardiographic screening and surgery significantly increase the duration and quality of life of these children.
Key words: Down syndrome, karyotyping, genetic counseling, congenital heart defect, open arterial duct, pulmonary hypertension.


1. Baranov VS, Kuznetsova TV. (2007). Cytogenetics of human embryonic development. St. Petersburg: N-L.

2. Berhman RE, Kliegman RM, Jenson Hal B. (2009). Human Genetic. In A.A. Baranov (Eds.). Nelson Textbook of Pediatrics (17th ed.), Мoscow: Reed Elsevier. 1: 225–273.

3. Boguta LYu, Rudenko NN, Emets IN. (2013). Surgical treatment of congenital heart diseases of infants. Sovremennaya pediatpiya. 7(55): 145–147.

4. Galagan VO. (2014). Down syndrome prenatal  diagnostic. Health of women. 9: 63-64.

5. Galagan VO, Rudenko NN, Kozelkova MB et al. (2010). The congenital heart disease in children with the Down’s. Tavricheskiy mediko-biologicheskiy vestnik. 13; 2(50): 23-24.

6. Kalashnikova RV, Rudenko NN, Galagan VO et al. (2012). Extracardiac anomalies development in children with congenital heart defects. Cardiovascular Surgery. Yearbook of scientific works of the association of cardiovascular surgeons of Ukraine. Is 20. Kiev: 200-206.

7. Kalashnikova RV, Galagan VA, Emets IN. (2013). Structure of congenital development abnormalities in operated for congenital heart diseases children. Sovremennaya pediatriya. 7(55): 140-144.

8. Levchenko E.G. (2005). Congenital heart defects in children – syndromic forms and associated anomalies: diagnostics and post-operative management. Dissertation for the degree of candidate of medical sciences. Мoscow: 41.

9. Rudenko NM. (2009). The experience of surgical treatment of congenital heart disease in children of the first year of life. Cardiovascular Surgery. Yearbook of scientific works of the association of cardiovascular surgeons of Ukraine. Is 17. Kiev: 400-404.

10. Attia AV, Ghanayem NM, Naqeeb HEl. (2015). Sexual and reproductive function in men with Down’s syndrome. Menoufia Medical Journal. 28; 2: 471-476. https://doi.org/10.4103/1110-2098.163904

11. Gournay V. (2011). The ductus arteriosus: Physiology, regulation, and functional and congenital anomalies. Archives of Cardiovascular Diseases. 104(11): 578–585. https://doi.org/10.1016/j.acvd.2010.06.006; PMid:22117910

12. McElhinney DB, Straka M, Goldmuntz E, Zackai EH. 2002. Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome. American Journal of Medical Genetics. Part A: 238–241. https://doi.org/10.1002/ajmg.10803; PMid:12439890

13. Shin M, Siffel C, Correa A. (2010). Survival of children with mosaic Down syndrome. Am. J. Genet. 152A: 800-1. https://doi.org/10.1002/ajmg.a.33295; PMid:20186777

14. Van Dyke, McBrien, Sherbondy A. (1995). Issues of Sexuality in Down Syndrome. Down Syndrome Research and Practice. 3; 2: 65-69. https://doi.org/10.3104/reviews.53

15. Vazquez-Antona CA, Lomeli C, Buendia A, Vargas-Barron J. (2006). Pulmonary hypertension in children with Down's syndrome and congenital heart disease. Arch. Cardiol. Mex. 76; 1: 16-27. PMid:16749498

16. Vis JC, Duffels MGJ, Winter MM et al. (2009). Down syndrome: a cardiovascular perspective. J. Intellect Disabil Res. 53: 419-425. https://doi.org/10.1111/j.1365-2788.2009.01158.x; PMid:19228275