CVS and Genetic Testing in Pregnant Women
With the emergence of genetic testing and other diagnostic testing for maternal health in pregnant women and their unborn babies, rates of genetic counseling and testing for expectant mothers and health monitoring of unborn babies should be improving. Yet this is only sometimes the case for specific patient populations. Medical technology advancements are improving health outcomes; however, a critical question lingers: How can the rate of improvement accelerate and extend to all women during this exciting time of life when they’re expecting a bundle of joy?
Disparities in Maternal Health Testing
A study in Colorado evaluated disparities in prenatal genetic counseling by assessing whether patients received counseling at the time of their first prenatal visit. Before the study, the researchers thought that the genetic counseling rates would be about the same across patient groups since Medicaid covers genetic counseling in Colorado. However, researchers found that prenatal genetic counseling was less likely to be provided to women who seek prenatal care at a time later in their pregnancy. This finding is concerning, given women who are from lower socio-economic backgrounds were more likely to seek prenatal care later in their pregnancy. Looking specifically at genetic (aneuploidy) screening, pregnant patients who were younger, Black racial background, single relationship status, and were seen at a later point in their pregnancy were linked with a lack of genetic (aneuploidy) counseling.
The genetic test of aneuploidy screening using amniocentesis involves testing the unborn baby’s risk of a chromosome disorder, neural tube defects, genetic conditions like sickle cell disease and cystic fibrosis, and congenital conditions that can cause congenital disabilities. Chromosome disorders include conditions like Down syndrome, chromosome numerical abnormalities, chromosome structural abnormalities, and other lesser-known chromosome disorders. Doctors most commonly recommend an amniocentesis for some high-risk pregnancies. Healthcare professionals may deem a pregnancy as high-risk if the patient meets the criteria of being under age 17 or over age 35; being diabetic, obese, or having high blood pressure; consuming alcohol, smoking tobacco or marijuana, or using illegal or recreational drugs; having previous pregnancy complications like fertility issues, multiple miscarriages, premature labor, early delivery, stillbirth, five or more pregnancies, or a C-section delivery; or early pregnancy complications like preeclampsia, gestational diabetes, signs of birth defects, being Rh-negative, carrying multiple babies, or the baby is growing less than expected.
Chorionic villus sampling (CVS) is another diagnostic test for pregnant women. More studies of diverse patient groups must be done to form evidence-based conclusions about the benefits and risks of chorionic villus sampling (CVS) in pregnant women. Although a research study shows that CVS creates a risk for miscarriage of under 1 percent, this excess risk is not linked entirely to the invasive procedure but also to the patient’s demographics and characteristics of that patient’s pregnancy. The study researchers calculated the risk of miscarriage after CVS to increase about three times above the patient’s background risk. Though this increased risk sounds substantial, more studies must be done on more healthy women from diverse backgrounds with no concerning risk factors to get true evidence-based conclusions about the risk of having chorionic villus sampling during pregnancy.
Solutions Toward Equitable Maternal Health Diagnostics
Providing access to early prenatal care and creating maternal health interventions for women entering prenatal care in their second trimester could help close disparity gaps in prenatal genetic counseling. And more action must be taken to create truly relevant data for all pregnant women. More research must be done to increase the numbers of healthy pregnant women from diverse ethnic and racial backgrounds to derive solid conclusions about chorionic villus sampling and genetic testing from evidence-based methods.
Women with a previously concerning ultrasound, a family history of concerning diseases, and those over age 35 on their due date need to receive chorionic villus sampling. If you are pregnant and have concerns about these conditions, ask your doctor or other healthcare professional about this testing as soon as possible. However, there also must be a balance to ensure that doctors do not order chorionic villus sampling in potentially unnecessary cases.
Maternal health and health policy expert Dr. Avareena Schools-Cropper shared her perspective about the current status of maternal health across patient groups and her hopes for the future. “Improving maternal health for marginalized and underserved women is getting much-needed attention and investment. However, advanced genetic and diagnostic tests can be difficult for many pregnant women to access, especially those who are financially disadvantaged or lack adequate health coverage. It is concerning that some women struggle to get these important tests, like prenatal genetic counseling, which provide essential information for better maternity care during and after childbirth. As medical technologies advance and become more accessible, our healthcare system must ensure everyone can benefit from these tests, promoting fair access to high-quality healthcare.”
Pregnancy should be a time of excitement and preparation for all expecting a new baby. Rates of genetic counseling and testing for expectant mothers and health monitoring of unborn babies must continue to improve to bridge the disparity gap for some patient groups. Chorionic villus sampling and genetic testing methods like amniocentesis are two diagnostic tests that can help monitor the unborn baby's health. Patients and patient advocates alike can take action to help improve rates of genetic counseling and testing of expectant mothers to help close disparity gaps.
What can you do next?
Advocate for yourself and others. Be sure to share your concerns and opinions. Write to your congressperson to ask for federal funding to support diverse representation in genetic testing and other testing technologies for pregnant women and their unborn babies.
Build community and support toward equity in diagnostic testing. Look for online forums discussing equity in diagnostics for genetic testing for pregnant women. Ask your healthcare provider for other ways to find people working to close the gap in maternal genetic testing disparities.
Lead. If you are a healthcare provider, examine how you currently engage with your patients. Consider joining our Pro Hub to connect with other experts committed to removing barriers to health equity.
Sources
Diane Christopher, Melanie Frinquello, Angela J. Fought, Matthew Bolt, Kestutis Micke, Hannah Elfman, Shane Reeves. Evaluating for Disparities in Prenatal Genetic Counseling. American Journal of Obstetrics and Gynecology. Accessed May 15, 2024. https://pubmed.ncbi.nlm.nih.gov/34583054/
Chorionic Villus Sampling (CVS). Johns Hopkins Medicine website. Accessed May 15, 2024. https://www.hopkinsmedicine.org/health/treatment-tests-and-therapies/chorionic-villus-sampling-cvs
Christina C. Pierre, PhD, DABCC, FAACC, and Octavia M. Peck Palmer, PhD. Championing the Removal of Race-Specific Medians in Maternal Serum Screening. American Association for Clinical Chemistry website. Accessed May 15, 2024. https://www.aacc.org/cln/articles/2023/may/championing-the-removal-of-race-specific-medians-in-maternal-serum-screening
M. M. Gil, F. S. Molina, M. Rodriguez-Fernandez, J. L. Delgado, M. P. Carrillo, J. Jani, W. Plasencia, V. Stratieva, N. Maiz, P. Carretero, A. Lismonde, P. Chaveeva, J. Burgos, B. Santacruz, J. Zamora, C. De Paco Matallana. New Approach for Estimating Risk of Miscarriage After Chorionic Villus Sampling. Wiley website. Accessed May 15, 2024. https://obgyn.onlinelibrary.wiley.com/doi/10.1002/uog.22041
Donna Murray, RN, BSN. An Overview of High-Risk Pregnancy. Verywell Family website. Accessed May 15, 2024. https://www.verywellfamily.com/overview-of-high-risk-pregnancy-4165632
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