Down's Syndrome in Pakistan: presentation and prevalence in a defined birth cohort

ABSTRACT

Evaluation of prevalence of Down's syndrome in a defined birth cohort and relationship to maternal age and clinical presentation. methods: retrospective case - control study in a birth cohort at the Aga-Khan University Hospital from July1987- December 1994. during this period 22 cases of Down's syndrome were delivered at AKUH. The prevalence of Down's syndrome among pakistani babies bron at AKUH was 1 in 550 lives birth. The associaation of Down's syndrome cases with Down's syndrome, 31% were diagnosed in the neonatal period to have congenital heart disease, 13% had musculoskeletal abnormalities and gastrointestinal abnormalities. The prevalence of 1 550 live births in this birth cohort is comparable to other regional data and highlights the importance of this disorder. There is a continuing need for adopting need for adopting screening techniques for down's syndrome among elderly mothers in our population