CRI DU CHAT szindróma

NIFTY Deletion Screening

What is a deletion syndrome?

A deletion syndrome is a term given to a condition that is caused by a missing piece of a chromosome. The health problems associated with different deletion syndromes are connected to which particular chromosome is affected, and the size and position of the deletion. The clinical symptoms of different deletions vary considerably. Major health impacts can include intellectual disability, heart defects, breathing problems and immune system issues. Deletions occur most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.

How does the deletion screening work?

NIFTYTM examines DNA originating from the baby by taking a small blood sample from the mother. The test isolates the baby’s DNA and then screens to see if the baby is at risk of having a specific deletion.

What deletion syndromes does the NIFTYTM test screen for?

Cri-du-Chat Syndrome

Also known as 5p deletion sydnrome, babies typically exhibit small head size,
low birth weight, decreased muscle tone and have moderate to severe intellectual disability. Feeding and/or breathing difficulties are also common. Infants with this condition often have a high-pitched cry that sounds like that of a cat.

1p36 Deletion Syndrome

Babies born with 1p36 deletion syndrome are characterised by moderate to
severe intellectual disability, weak muscle tone, delayed growth, limited speech ability and distinct facial features. Seizures occur in more than half of individuals with the disorder.

2q33.1 Deletion Syndrome

Babies born with 2q33.1 will typically experience delayed growth and exhibit behavioural and developmental problems. Severe feeding difficulties are common and the incidence of cleft palate is also high.