Background Trisomy 18 (Edwards'syndrome, T18) is the second most common trisomy in man.
We describe 118 children with regular T18 who were ascertained clinically and cytogenetically in the Kuwait Medical Genetics Centre during 1980-1997.
Methods Ascertainment of T18 cases was performed shortly after birth, Chromosomal studies were carried out in addition to other relevant investigations.
To investigate the factors associated with TI8, a case-control study was carried out with 131 normal healthy newborns.
Studied factors included maternal and paternal age, birth order, abortion, associated malformation, and survival.
Multiple logistic regression analysis was used to adjust for confounding between variables.
Results There was a preponderance of females among T18 cases (female : male ratio 2.1 : 1).
The majority of T18 cases (53%) died before the second week of life.
The most common associated anomalies were : congenital heart (38.1%) and gastrointestinal (25.4%). Multiplicity of malformations was also observed.
Significant seasonal variation in T18 cases was detected with a peak in spring.
Of the 118 T18 cases, 59 were delivered during 1994-1997 (average overall T18 birth prevalence rate 8.95 per 10 000 live births [95% CI : 6.66-11.23]). Concerning maternal age, 30.5% of the T18 cases'mothers were >= 35 years compared to 10.7% in the control group.
The difference was statistically significant, P=0.002. (...)
Mots-clés Pascal : Trisomie, Aneuploïdie, Aberration chromosomique, Chromosome 18, Nouveau né, Homme, Sexe, Etude cas témoin, Facteur risque, Age mère 35, Evolution, Survie, Variation saisonnière, Koweit, Asie, Epidémiologie, Prévalence, Edward syndrome
Mots-clés Pascal anglais : Trisomy, Aneuploidy, Chromosomal aberration, Chromosome 18, Newborn, Human, Sex, Case control study, Risk factor, Maternal age 35, Evolution, Survival, Seasonal variation, Kuwait, Asia, Epidemiology, Prevalence
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0425945
Code Inist : 002B23E. Création : 22/03/2000.