Is it Time to Start NewbornScreening forTurner Syndrome?

Turner syndrome (TS), is the most common chromosomal abnormality in females. TS is caused by haploinsufficiency of the short arm of X-chromosome, and is usually diagnosed by karyotyping which is time-consuming, expensive and unfeasible for population screening. Neonatal diagnosis of TS permits detection of associated malformations, appropriate therapy for short stature and puberty, thus improving patient quality of life and minimizing sequels. However fewer than 20% of the cases are diagnosed during the neonatal period. TS is not currently part of newborn screening. A considerable delay in diagnosing girls with TS is obvious. The use of combined molecular-cytogenetic approaches in different tissues of different embryological origins would be of help for thedetection of mosaic TS patients. Simpler, faster and less expensive new methods are needed for population screening programmes.