It’s a stark reality reflected in our country’s dismal maternal health outcomes, and recently symbolized by the tragic death of elite athlete Tori Bowie: Too many Black and Hispanic women still lack the support and sufficient access to critical maternal and prenatal care they need.
Bowie became another heartbreaking statistic in the high average maternal mortality rates for Black women, which hover 2.6 times above that for white women. Many of these disparities stem from discriminatory levels of coverage and care during and after delivery. As a maternal fetal medicine specialist, I know that just as important is the coverage and prenatal care women receive before delivery.
Screening tests are a vital component to prenatal care, including those that help families identify whether the baby is more or less likely to have certain genetic disorders. Early diagnosis of these disorders can allow for interventions that significantly improve a child’s health outcomes.
The good news is that the American College of Obstetricians and Gynecologists (ACOG) – whose professional guidelines often help lead to more equitable patient access to prenatal and maternal care – officially recommends offering screening for several chromosomal and genetic conditions including Down syndrome, cystic fibrosis (CF), and spinal muscular atrophy (SMA) for all pregnancies, regardless of risk factor.
Left behind, however, are other common genetic conditions that deserve the same level of attention.
Take for example 22q11.2 deletion syndrome, more commonly known as 22q and the most common cause of DiGeorge syndrome. This syndrome, which occurs in about 1 in 2,000 live births and can cause numerous health challenges, has historically been underdiagnosed. The deletion is a leading genetic cause of heart defects. In fact, 22q is the third most common chromosomal cause of heart defects after two other regularly screened disorders, Down syndrome and trisomy 18. Babies with this condition may also encounter learning difficulties, weakened immune systems, and low calcium levels. Early detection of 22q during pregnancy allows families the chance to deliver their baby in a neonatal care center best equipped to offer a comprehensive evaluation and provide appropriate interventions at birth.
And yet, troubling new data shared from a commercial laboratory in California shows that Black and Hispanic women have significantly less access to screenings for conditions like 22q than White women.
California’s state-wide prenatal screening program is based on ACOG guidelines, which only call for screenings and follow-up services for a more limited set of conditions. Testing for any additional conditions, like 22q, is considered “supplemental” and performed with a separate test order, potentially at an increased cost to the patient.
As a result, the data showed that in California between January and May 2023, White and Asian patients accessed screenings at double the rate (32.5% and 45.1% percent, respectively) of Black and Hispanic patients (17.5% and 15.4%, respectively) – another clear example of inequitable access to critical tests and care faced by communities of color.
Fortunately, the fix here is simple. Professional organizations that carry significant sway among health care providers, insurers, and policymakers – like ACOG – can and should update their guidelines to recommend screening of conditions like 22q where there are clear benefits to early detection.
Throughout my career, I have helped countless mothers navigate the complexities of maternal and prenatal care, and I know how important it is to provide mothers with the earliest, most accurate info about the health of their babies. There may be no silver bullet to addressing the disparities we see in maternal and prenatal care, but we can certainly take steps toward ensuring the best possible outcomes for all patients. We can begin by increasing screening access for a broader array of common genetic conditions.
About Dr. Kecia Gaither
Dr. Kecia Gaither, MD MPH MS MBA FACOG FAIUM, is the Director of Perinatal Services and Maternal Fetal Medicine at NYC Health + Hospital Systems in the Bronx, NY.