22q deletion syndrome (DiGeorge syndrome)
22q11.2 deletion syndrome (22q11.2 DS), also known as DiGeorge Syndrome or velocardiofacial (VCF) syndrome, is a genetic condition in which a small portion of chromosome 22 is deleted or missing. At least 1 in 2,000 to 1 in 4,000 people have 22q11.2 deletion syndrome, making it one of the most common genetic conditions worldwide.
In a small percentage of cases the condition is inherited, but most often it appears as a random occurrence in a family. Some affected individuals have signs and symptoms identified before birth, some have signs apparent shortly after birth, and still others may go undetected for years or decades.
22q11.2 DS has a wide array of symptoms that can affect different organ systems. If your child is diagnosed with this condition, he or she will need treatment from specialists in a variety of fields.
What You Need to Know About DiGeorge Syndrome
Medical challenges commonly associated with 22q11.2 DS include:
- Congenital heart defects
- Frequent infections
- Developmental delays or learning difficulties
- Low levels of calcium in the blood which can cause seizures if untreated
- Cleft palate and other facial abnormalities
- Increased risk of mental health conditions, such as schizophrenia, ADHD, and autism spectrum disorders
- Underdeveloped or absent thymus
- Immune deficiencies
- Gastrointestinal disorders
When you visit the SSM Health Cardinal Glennon St. Louis Fetal Care Institute with a presumed or confirmed diagnosis of DiGeorge Syndrome in your baby, you can meet with a team of experts who can provide information about your baby’s diagnosis. This team will involve:
- Maternal-fetal medicine specialists
- Genetic counselors
- Clinical geneticists
- Social workers
- Footprints/palliative care nurses
- Neonatologists
Additionally, based on your unique pregnancy, you may have follow-up visits with other pediatric specialists.
In most cases, a detailed fetal ultrasound will be performed during your first visit to the Cardinal Glennon St. Louis Fetal Care Institute. Amniocentesis is also available if this test has not been performed yet.
A Cardinal Glennon St. Louis Fetal Care Institute nurse coordinator will serve as your primary contact and will coordinate the care for you and your baby throughout the pregnancy.
The goal of the Cardinal Glennon St. Louis Fetal Care Institute team is to provide families with the support, information, knowledge and options to make the decisions that are best for their baby. We recognize that the diagnosis of 22q11.2 DS affects a family greatly and our hope is to be able to provide families with the resources they need during a difficult and overwhelming time.
A probable 22q11.2 DS can be discovered prenatally through:
- Amniocentesis
- Genetic screening
- Prenatal ultrasound
An amniocentesis can confirm a diagnosis before birth. Diagnosis can also be made after birth, typically through blood testing. Genetic screening such as noninvasive prenatal testing (NIPT) identifies pregnancies at increased probability of having the chromosome 22q11.2 deletion, but does not confirm the diagnosis. Signs of a congenital heart defect, cleft palate, or other defect on a prenatal ultrasound also increase the possibility that a baby has this condition. Each of these tests are available through the Cardinal Glennon St. Louis Fetal Care Institute.
At the Cardinal Glennon St. Louis Fetal Care Institute your little one will receive specialized care in a state-of-the art hospital that has the equipment, team, and experience to meet his or her needs. Because of the complex nature of 22q11.2 DS, babies may face medical challenges during delivery and in the newborn period, which is why it is recommended that they be delivered at a hospital with the resources to handle their unique needs.
Every baby’s situation is different, and the Cardinal Glennon St. Louis Fetal Care Institute works with each family to prepare for their baby’s delivery and to create a specialized care plan to follow after birth.
Although there is no cure for 22q11.2 DS, treatment can improve symptoms. The prognosis for newborns with the condition varies and depends on the severity of their symptoms and the organs affected.
Most people with 22q11.2 DS who receive ongoing healthcare and treatment from specialists have a normal life expectancy and achieve some degree of independence. A smaller percentage of affected babies have significant complications related to their hearts or immune systems that may be life-threatening.
Babies with 22q11.2 DS may struggle with feeding and growth problems, hearing or vision loss, and other medical conditions. Fortunately, surgery to correct medical problems associated with 22q11.2 DS, such as heart defects and cleft palate, often provide effective treatment for many of these babies.
Children with the condition will benefit from the care of a multidisciplinary medical team, which may include:
- Pediatricians
- Medical geneticists
- Surgeons
- Cardiologists
- Endocrinologists
- Speech pathologists
- Otolaryngologists
- Ophthalmologists
- Psychologists
- Occupational therapists
- Other healthcare professionals
After delivery, the Complex Medical Care program at SSM Health Cardinal Glennon Children’s Hospital can help with the medical care process by collaborating with all these health care providers to help ensure continuity of care. This team provides:
- Individualized care plans that we make accessible in different health care environments
- Coordination to ease the child’s transition between hospital, home, and community outpatient facilities
- Safe transportation between facilities
- Education to help optimally deliver a child’s care once he or she gets home
- Ongoing communication with family, primary care providers, and specialists