5p deletion (Cri du Chat syndrome) Overview & Prenatal Genetic Test (NIPT)

What is 5p deletion syndrome (Cri du Chat)?

5p deletion syndrome (Cri du Chat) is caused by a deletion of a piece of chromosome 5. Signs and symptoms include a high-pitched cry, intellectual disability, distinctive facial features, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Most individuals have difficulty with language. The symptoms vary among individuals.

How common is 5p deletion syndrome (Cri du Chat)?

The incidence of 5p deletion syndrome in the population is 1 in 20,000 to 1 in 50,000 births.

How is 5p deletion syndrome (Cri du Chat) treated?

There is no cure for 5p deletion syndrome (Cri du Chat). Treatment for the condition is directed at managing the specific symptoms an individual has. This often means receiving care through a team of specialists that may include physicians, speech pathologists, occupational therapists, physical therapists, and social workers. Individuals diagnosed with 5p deletion syndrome will often benefit from receiving early intervention and other supportive services beginning at a young age.

What is the prognosis for a person with 5p deletion syndrome (Cri du Chat)?

The prognosis for individuals with the condition depends on the severity of their symptoms. Some individuals may not survive the first few years of life, while others may live well into adulthood. Early intervention and treatment can improve outcomes. Virtually all individuals with 5p deletion syndrome (Cri du Chat) will have some developmental delay and need medical support throughout their lifetime.

Benefits of Prenatal Genetic Test (NIPT) for Cri du Chat syndrome

A non-invasive prenatal test (NIPT) is a genetic screening that can determine if a pregnancy is at an increased risk for Cri du Chat syndrome. Prenatal genetic testing for Cri du Chat syndrome can help clinicians guide care and empower patients to make a more informed decision for their family. The Prequel^® Prenatal Screen (NIPT) delivers clarity on a patient’s true risk with individualized positive predictive values (PPV) and residual-risk estimates to help inform next steps. Learn more about the Prequel^® Prenatal Screen (NIPT) by Myriad Genetics.