How is Velo-cardio-facial syndrome diagnosed?
In addition to a prenatal history, complete medical and family history, and a physical examination, diagnostic procedures for Velo-cardio-facial may include:
•blood tests and tests to examine for immune system problems
•x-ray - a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
•echocardiography - a procedure that evaluates the structure and function of the heart by using sound waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves.
•fluorescence in situ hybridization (FISH) studies - when features of conotruncal heart defects, clefting, other facial features, hypocalcemia, and absent thymus are identified, a blood test is usually ordered to look for a deletion in the chromosome 22q11.2 region. FISH is specifically designed to look for small groups of genes that are deleted. If the FISH test finds no deletion in the 22q11.2 region and the features of VCFS are still strongly suggestive, then a full chromosome study is usually performed to look for other chromosome defects that have been associated with this syndrome.
If a 22q11.2 deletion is detected in a child, then both parents are offered the FISH test to see if this deletion is inherited. In approximately 10 percent of families, the deletion has been inherited from one of the parents. Any individual who has this 22q11.2 deletion has a 50 percent chance, with each pregnancy, of passing it on to a child.
Treatment for Velo-cardio-facial syndrome:
Specific treatment for Velo-cardio-facial syndrome will be determined by your child's physician based on the following:
•your child's age, overall health, and medical history
•the extent of the disease
•the type of disease
•your child's tolerance for specific medications, procedures, or therapies
•expectations for the course of the disease
•your opinion or preference
Treatment will also depend on the particular features in any given child and may include the following:
•Heart defects will be evaluated by a cardiologist.
•A plastic surgeon and a speech pathologist will evaluate cleft lip and/or palate.
•Speech and gastrointestinal specialists will evaluate feeding difficulties.
•Immunology evaluations should be performed in all children with this deletion. To monitor T-cell disorder and recurrent infections, live viral vaccines should be avoided and all blood products for transfusions (if needed) should be irradiated unless cleared by an immunology physician.
In severe cases where immune system function is absent, bone marrow transplantation is required.