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Definition

General Details of Chorionic Villus Sampling

Chorionic villus sampling (CVS) is a prenatal genetic test to biopsy placental tissue. Chorionic villi are located on one side of the placenta and look like a set of small branches or tiny finger-like growths. If CVS is performed for a pregnancy, it typically takes place sometime between the 10th and 13th weeks of pregnancy. Some reasons that CVS is performed include maternal age over age 35 by the due date; previous ultrasound with abnormal or questionable findings; family history or previous child with metabolic disorder, chromosomal abnormalities, or genetic disease; abnormal cell-free DNA test; or risk of a sex-linked genetic disease. CVS procedures can be performed through the abdomen (transabdominal) or through the cervix (transcervical). In the transcervical method, a needle or catheter will be inserted through the cervix to remove a small sample of cells. In the transabdominal method, a needle will be inserted through the abdomen to remove a small sample of cells. Some diseases that can be checked with chorionic villus sampling include sickle cell anemia, Down syndrome, thalassemia, cystic fibrosis, and Tay-Sachs, among others. CVS cannot check for more complex medical issues like spina bifida, cleft palate, and heart issues.

Disparities of Chorionic Villus Sampling

Since pregnant patients who undergo maternal serum screening (MSS) also have chorionic villus sampling to help in diagnosis of potential medical issues in the fetus, then it’s logical that CVS rates have increased due to race-based testing methods. The community of clinical laboratory scientists have been examining different race-based clinical calculations and are currently investigating whether the race-based variable of maternal serum screening could be causing unnecessary harm to pregnant patients. CVS creates a very small risk for miscarriage of less than 1 percent, but it’s still a concern that must be examined further to ensure optimal care for expectant mothers and their unborn babies.

Why This Matters

The fact that clinical laboratory scientists are currently investigating the health impacts of race-based variable of maternal serum screening shows that questions exist about some maternal patients. If some patients are being sent for unnecessary MSS and CVS testing, having an unnecessary invasive chorionic villus sampling is a cause for concern.

Call to Action

It’s important for women with a previous ultrasound with concerns, a family history of concerning diseases, and those who will be over age 35 on their due date to receive chorionic villus sampling. If you are pregnant and have any concerns about these conditions, make sure to ask your doctor or other healthcare professional about this testing as soon as possible. However, there also must be a balance to ensure that chorionic villus sampling is not ordered in potentially unnecessary cases. Ask your healthcare professional if there are recent study results about whether race-based maternal serum screening guidelines will be changing.

Brooke Whitaker, DCLS, MLS(ASCP)cm is a doctor of clinical laboratory science. You can find her on Twitter: @BrookeW74021416

General Details of Digital Diagnostic Approaches

Digital diagnostics in healthcare is a blossoming area that covers a wide variety of diagnostic tests and analysis that continues to expand in new ways. In fact, digital diagnostics can include blood tests, biopsies, imaging, genetic testing, and remote monitoring of vital signs and organ function. Artificial intelligence (AI) is increasingly being used to process and analyze digital diagnostic testing, which generates multiple benefits of reducing the percentage of errors in test results, decreasing some tedious test interpretation tasks, and increasing face-to-face time for patients with their healthcare professionals. In addition, expanding the use of digital diagnostics can help create more equitable care for marginalized patients both in the U.S. and around the world.

Disparities of Digital Diagnostic Approaches

Some medical research studies have analyzed the link between diagnostic errors and health care disparities. One example of these studies includes increased likelihood of misdiagnosis using genetic testing with patient diagnostic tools that were created with less diverse patient populations. Another example includes a research study that concluded that Black patients were more likely to be underdiagnosed with depression compared to their white counterparts in cases when they visited their primary care clinics for mental health concerns.

Why This Matters

Diagnostic errors that lead to underdiagnosis and misdiagnosis of patient conditions may lead to reduced quality of life and even higher death rates for some conditions. Standardized digital diagnostic approaches can be a powerful tool in moving toward equitable medical diagnostic testing and care for all. As diagnostic data for all patient populations becomes more readily available, analysis and, in turn, patient diagnosis and care will become more refined for improved care no matter patient gender, geographic location, socioeconomic status, or racial or ethnic background. A wide range of medical conditions can benefit from more timely and accurate diagnosis including conditions such as lung cancer, breast cancer, genetic abnormalities discovered during prenatal care, and heart defects and conditions.

Call to Action

Digital diagnostic approaches are essential for moving toward equitable care for all patients. Any patient advocates who want to advocate for improved care can write to their congresspeople to support standardized diagnostic testing for all. During your next visit to your healthcare professional, ask them how digital diagnostics are assisting them in patient care.

Brooke Whitaker, DCLS, MLS(ASCP)cm is a doctor of clinical laboratory science. You can find her on Twitter: @BrookeW74021416.