• 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.

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