Experimental modelling of human disorders enables the definition of the cellular and
molecular mechanisms underlying diseases and the development of therapies for treating …

Down syndrome (DS) is one of the commonest disorders with huge medical and social cost.
DS is associated with number of phenotypes including congenital heart defects, leukemia …

Sporadic miscarriage is the most common complication of early pregnancy. Two or three
consecutive pregnancy losses is a less common phenomenon, and this is considered a …

Effective screening for major aneuploidies can be provided in the first trimester of
pregnancy. Screening by a combination of fetal nuchal translucency and maternal serum …

The present and future live birth prevalence of Down syndrome (DS) is of practical
importance for planning services and prioritizing research to support people living with the …

There is extensive evidence that effective screening for major chromosomal abnormalities
can be provided in the first trimester of pregnancy. Prospective studies in a total of 200,868 …

Background: Down syndrome (DS) affects∼ 1 per 650–1000 live births and is the most
common known genetic cause of intellectual disability. A highly significant change in the …

Between 1 and 4% of the populations of developed nations are diagnosed with learning
disability. In Australia, an estimated 1.9% of the population exhibit learning disability either …

Background Screening for aneuploid pregnancies is routinely performed after 15 weeks of
gestation and has a sensitivity of approximately 65 percent, with a false positive rate of 5 …

Objectives: To revise the estimates of maternal age specific live birth prevalence of Down's
syndrome in the absence of antenatal screening and selective termination using newly …