Among the most significant challenges of pregnancy is the possibility of genetic disorders in the fetus — conditions that can be devastating for families, emotionally and financially. One such genetic disorder is 22q11.2 deletion syndrome, more commonly known as 22q or DiGeorge Syndrome, which can lead to a wide range of health issues including heart defects, immune system problems, developmental delays related to cognitive and motor function, and later life mental health disorders such as schizophrenia.
Early diagnosis of 22q11.2 deletion syndrome is critical for the health and well-being of the child. A recent international study with the 22q Foundation has demonstrated that if the condition is identified during pregnancy, these children can be delivered in neonatal care centers well-equipped to offer a comprehensive, multidisciplinary evaluation providing appropriate interventions at birth. These include critical correction of the related heart defects, delay of live vaccines due to the associated immunodeficiencies, and early recognition of neonatal hypocalcemia, which can cause seizures potentially affecting cognitive function if left untreated. Many of these health issues can be managed with early intervention, and developmental delays can be addressed.
While 22q11.2 deletion syndrome was once thought to occur in one out of 4,000 births, it is now recognized that it has likely been underdiagnosed. Recent research has found that 22q occurs at least twice as often — one in 2,000 live births — making it comparable in frequency to some of the genetic conditions for which obstetricians regularly screen during pregnancy. It is more common than other conditions such as cystic fibrosis and spinal muscular atrophy.
While the American College of Obstetricians and Gynecologists recommends offering screening for chromosomal abnormalities such as Down syndrome along with carrier testing for cystic fibrosis and spinal muscular atrophy as part of standard pan-ethnic screening for all pregnant individuals, it does not currently do the same for 22q11.2 deletion syndrome. This means many parents are unaware of their child’s diagnosis until after birth, when symptoms may appear. In the absence of prenatal identification, children miss the opportunity for early interventions that can significantly improve their health outcomes. Families endure a diagnostic odyssey lasting on average five years, involving many specialist visits and potentially incurring significant costs.
Prenatal screening for 22q11.2 deletion syndrome is available, simple, non-invasive and highly accurate. It can easily be added to noninvasive prenatal testing already offered to pregnant individuals. A recent study confirmed that it can be performed in a broad population with high accuracy and with a low false positive rate. The results can be provided within a few days, allowing ample time for counseling and for parents to make informed decisions about their pregnancy and prepare for the care of their child.
American College of Obstetricians and Gynecologists professional guidelines carry significant influence among all OB/GYNs and often help ensure equitable patient access to care through guidance for health insurance coverage. ACOG should update its guidelines to recommend 22q11.2 deletion syndrome screenings for all pregnant individuals. Early diagnosis can make a significant difference in the health and well-being of children with this condition, and screening is a simple, non-invasive and cost-effective way to achieve this goal.