PP76. DOWN SYNDROME - THE INCIDENCE AND RISKS
ZISOVSKA ELIZABETA, Lazovska Bratica Obstetric and Gynecology Clinic, Faculty of Medicine, Skopje, Republic of Macedonia e-mail: zisovska@yahoo.com
*Corresponding Author:
page: 81

Abstract

Down syndrome(DS) is a genetic condition resulting from the presence of an extra genetic material on the 21st chromosome. The incidence is 1 per 800-1000 births. The aim of our study was to present the incidence of DS and to correlate it to the maternal age. Material: newborns born at Obstetric and Gynecology Clinic, Skopje. Methods: clinical examination, cytogenetic. Results: 24 out of 19,920 newborns were confirmed as trisomia 21; 15 were 47,XX+21, and 9 babies 47 XY, +21. The incidence of DS in last five years was 1/833 newborns. Correlated to the maternal age was as follows: the mean age of the mothers having babies with DS was 31,5 years. The incidence of DS in newborns of mothers < 25 years was 1/1680, mothers between 25-35 was 1/1190, mothers of age 36-40 having baby with DS had incidence 1/430, and mothers over 40 years had incidence 1/140. Discussion: Maternal age influences the risk of conceiving a baby with DS. At maternal age 20-24, the estimated risk is 1/1490, at age 40 is 1/106, and at age 49 is 1/11. Conclusion: the distribution of the types of DS is similar to that in literature. The incidence correlates with advanced maternal age. Despite the improved prenatal testing in risk patients, the incidence of DS is still high, because the problems occur also in non-risk population, as a first event. It requires detailed clinical examination, and careful cytogenetic investigation in order to find present chromosomal abnormality with consequent motor and mental impairments.




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