Diagnosing Turner syndrome 

Turner syndrome is usually identified during childhood or at puberty. However, it can sometimes be diagnosed before a baby is born using a test called amniocentesis.

Pregnancy and birth

Turner syndrome may be suspected in pregnancy during a routine ultrasound scan if, for example, heart or kidney abnormalities are detected.

Lymphoedema, a condition that causes swelling in the body's tissues, can affect unborn babies with Turner syndrome, and may be visible on an ultrasound scan.

Sometimes Turner syndrome is diagnosed at birth as the result of heart problems, kidney problems or lymphoedema.

Childhood

If a girl has the typical characteristics and symptoms of Turner syndrome, such as short stature, a webbed neck, a broad chest and widely spaced nipples, the syndrome may be suspected.

It is often identified during early childhood, when a slow growth rate and other common features become noticeable.

In some cases, a diagnosis is not made until puberty (sexual maturity) when breasts don't develop or monthly periods don't start.

Girls with Turner syndrome are typically short in relation to the height of their parents. But an affected girl who has two tall parents may be taller than some of her peers, and is less likely to be identified based on her poor growth.

Karyotypying

Karyotyping is a test that involves analysing the 23 pairs of chromosomes (strands of genes present in all human cells).

It is often used where Turner syndrome is suspected. The test can either be carried out while the baby is inside the womb by taking a sample of amniotic fluid (amniocentesis), or after birth by taking a sample of the baby's blood.

Page last reviewed: 27/05/2015

Next review due: 27/05/2017