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A Mother Shares How 22q11.2 Deletion Syndrome Impacts Her Son
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Parker has experienced heart failure and developmental delays due to 22q11.2 deletion syndrome. In this video, Parker’s mother, Lauren, shares her experiences trying to diagnosis various health issues of her son.
Eventually, they learned Parker was missing his thymus. A nurse practitioner mentioned this is a big indicator of 22q deletion syndrome, also known as DiGeorge syndrome. This prompted genetic testing where they determined Parker has 22q11.2 deletion syndrome.
22q11.2 deletion syndrome is a microdeletion in the 22nd chromosome that can cause an array of health issues including congenital heart defects, immune deficiencies, hypocalcemia, palatal abnormalities, and developmental delay and learning differences.
Diagnosing 22q11.2 deletion syndrome after the child is born can be difficult. Non-Invasive Prenatal Testing (NIPT), like Panorama™, can screen for 22q11.2 deletion syndrome and other microdeletions to help prepare parents before birth.
Panorama™ is a simple, safe, and highly accurate screen for common genetic conditions in the baby’s DNA as early as 9 weeks of gestation. Panorama™ analyzes the baby's (placental) DNA through a simple blood draw from the mother’s arm.
Eventually, they learned Parker was missing his thymus. A nurse practitioner mentioned this is a big indicator of 22q deletion syndrome, also known as DiGeorge syndrome. This prompted genetic testing where they determined Parker has 22q11.2 deletion syndrome.
22q11.2 deletion syndrome is a microdeletion in the 22nd chromosome that can cause an array of health issues including congenital heart defects, immune deficiencies, hypocalcemia, palatal abnormalities, and developmental delay and learning differences.
Diagnosing 22q11.2 deletion syndrome after the child is born can be difficult. Non-Invasive Prenatal Testing (NIPT), like Panorama™, can screen for 22q11.2 deletion syndrome and other microdeletions to help prepare parents before birth.
Panorama™ is a simple, safe, and highly accurate screen for common genetic conditions in the baby’s DNA as early as 9 weeks of gestation. Panorama™ analyzes the baby's (placental) DNA through a simple blood draw from the mother’s arm.
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