For expectant parents, peace of mind is the north star — and an often-elusive destination given the loud “what ifs” that echo alongside sensational, out-of-context health headlines.
One of my priorities as a Maternal Fetal Medicine Specialist has always been to help patients steer clear of that noise and to arm them instead with the evidence-based facts they need to successfully navigate such a season of change in their lives. A key part is providing them with the earliest and most accurate information possible about the health of their babies.
Fortunately, tremendous progress has been made in prenatal and maternal care that allows me to do that. Now we must make sure every single patient — regardless of age, race, background or socioeconomic level — has equitable access to these new tools and technologies.
These tools include the screening tests that allow expectant parents to identify genetic disorders in their babies. Newer technologies like noninvasive prenatal screening tests, which use a mother’s blood sample to analyze a baby’s DNA, provide families with far more accurate results than traditional serum methods. More accurate results mean earlier diagnoses of genetic disorders. Earlier diagnoses provide an opportunity for patients to make appropriately informed reproductive decisions and allow for interventions that can significantly improve a child’s health outcomes.
The American College of Obstetricians and Gynecologists and other medical groups recommend this newer noninvasive prenatal screening technology for all pregnancies as part of prenatal practice guidelines. Further, they have recommended universal screening of several genetic conditions for all pregnancies, no questions asked, including Down syndrome, cystic fibrosis and spinal muscular atrophy.
This is a win for all families and a significant step toward ensuring equitable levels of care for all pregnancies. However, we still have much work to do. For example, why aren’t we using this superior, simple, non-invasive technology to screen pregnancies for an even broader base of common genetic conditions?
One of these conditions is 22q11.2 deletion syndrome. Commonly referred to as 22q or DiGeorge syndrome, 22q11.2 deletion syndrome can cause numerous health challenges including heart defects, weakened immune systems, low calcium levels, and learning or developmental challenges.
The syndrome has traditionally been under-diagnosed. Recent research has found that 22q occurs at least twice as often as previously thought, or about 1 in every 2,000 live births. This makes 22q comparable in frequency to some of the conditions for which the American College of Obstetricians and Gynecologists recommends for universal screening.
Without universal screening and early detection of common chromosomal disorders, thousands of families will continue to be left without the chance to access critical early medical and development interventions that can improve their child’s health outcomes.
That certainly doesn’t foster peace of mind.
Professional organizations have the opportunity to take the lead here and build upon the progress we have made in the prenatal care space. They can and should update their guidelines to recommend universal screening of relatively common genetic conditions where there are clear benefits to early detection.
We must continue to take steps toward ensuring the best possible outcomes for all patients and their families so that they can have the peace of mind they deserve.
