Petrovska, Mence and Velickova, Nevenka (2016) The importance of cytogenetic screening in prenatal diagnosis of Down syndrome. In: The International Student Symposium of Medical Sciences, 20 Apr 2016, Stip, Macedonia.
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Abstract
Introduction:Down syndrome, or trisomy 21, is a complex genetic disease resulting from the presence of 3 copies of chromosome 21. The origin of the extra chromosome is maternal in 95% of cases and is due to the failure of normal chromosomal segregation during meiosis. There are many cytogenetics methods for early detection and diagnosis for the DS, some of them are invasive and the others are non-invasive methods.
Material and methods:To Identify the number and gender of Down syndrome (DS) patients and ages of parents and the City of Bitola, Macedonia, in the period of 10 years. According to medical registry book during 2006 to 2015 there are three cases of Down syndrome. All patients are baby girls. Two of them were born in 2006 and the other one was born in, 2008.
Results and discussion:All the informations are taken from counseling service for infants, toddlers and pre-school children and development counseling medical center in Bitola. Cytogenetic analysis in children with DS are taken from clinical hospital dr.Trifun Panovski from Bitola,from gynecological department.Physical therapy takes place in the center for children with special needs.
Conclusion:Early detection and diagnosis of DS are very important. Also, ages of parents and their choice whether to continue pregnancy or not should be respected. Altough advanced maternal age is a major risk factor for trisomy 21, most children with Down syndrome are born to mothers <30 years of age.
| Item Type: | Conference or Workshop Item (Poster) |
|---|---|
| Subjects: | Medical and Health Sciences > Basic medicine |
| Divisions: | Faculty of Medical Science |
| Depositing User: | Nevenka Velickova |
| Date Deposited: | 12 Sep 2016 11:09 |
| Last Modified: | 12 Sep 2016 11:09 |
| URI: | https://eprints.ugd.edu.mk/id/eprint/16148 |
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