Q: Can Turner syndrome be detected in ultrasound?

A: It is possible to detect Turner syndrome in utero through: Ultrasound scans Prenatal cell-free DNA screening Chorionic villus sampling Amniocentesis testing

Dwarfism - FAQ

Symptoms & Causes Diagnosis & Treatment FAQ

Frequently asked questions

A: It is possible to diagnose certain types of dwarfism in utero through an ultrasound scan. Your gynaecologist will measure if your baby is hitting certain gestational milestones, such as length size, during your pregnancy.

Other tests that can detect dwarfism in the womb include:

Amnionic fluid check
Amniocentesis testing
Chorionic villus sampling

A: Dwarfism can be considered a disability, especially if there are associated complications such as growth or developmental issues. These could lead to one being disabled or unable to perform regular functions in life.

A: Growth hormone deficiency occurs when the pituitary gland does not produce sufficient growth hormones.

There is often no clear cause of why the body produces does this, but scientists have attributed a growth hormone deficiency to:

Genetic defects
Severe brain injury
Being born without a pituitary gland

A: Most people with dwarfism have a normal lifespan. However, associated complications may cause earlier death.

A: There are misconceptions and stereotypes surrounding dwarfism that may affect people with the condition. Stigma about people with short stature may also hamper their opportunities and experiences in life.

In particular, children with dwarfism will have to deal with being seen and treated differently from their peers growing up. This could cause psychological issues with self-esteem and social development issues.

A: It is possible to detect Turner syndrome in utero through:

Ultrasound scans
Prenatal cell-free DNA screening
Chorionic villus sampling
Amniocentesis testing

A: Achondroplasia is the most common form of disproportionate dwarfism.

A: Globally, about 1 in every 2,000 – 5,000 females have Turner syndrome at birth. It is the most common sex chromosomal disorder in women.

A: Turner syndrome may be detected with an ultrasound. Your doctor may notice certain signs such as abnormalities in the heart or kidneys, or abnormal or large fluid collection in parts of the body, notably the back of the head or neck.

Your doctor may recommend other tests to confirm the diagnosis such as: