Triple X Syndrome - Diagnosis

Diagnosis

The vast majority of Triple X women are never diagnosed, unless they undergo tests for other medical reasons later in life. Triple X can be diagnosed by a blood test which is able to look at a person’s chromosomes (karyotype).

Triple X syndrome can be diagnosed prenatally through amniocentesis or chorionic villus sampling. In Denmark, between 1970-1984, 76% of the prenatally diagnosed fetuses with triple-X were aborted. Between 1985-1987 this figure dropped to 56%. With improved information the number of abortions diminished. The experience in the Netherlands demonstrates that during the period 1991-2000 33% (18/54) of the couples that were confronted with a prenatal diagnosis of 47,XXX elected to abort. If balanced information is provided to prospective parents, pre-natally, the incidence of voluntary termination (abortion) is reduced.