September 8, 2016
Letter from Cardinal Glennon Fetal Care Institute
Dear Ashley,
We met with you, your husband Jack and Jack’s sister in the Fetal Care Institute (FCI) at Cardinal Glennon on August 22, 2016. You are pregnant with baby boy you plan to name Jack. You are being followed in FCI because Jack has been found to have fluid around his heart, a finding known as a pericardial effusion. In the course of our counseling session, we went through an extensive pregnancy history and family history. There was nothing identified during this review which revealed additional risks for your offspring. This letter serves as a summary of our discussion.
Our primary discussion involved the potential implications of Jack’s pericardial effusion. As we discussed, in many cases, this can be a transient finding which ultimately has no implications for an individuals health. In other cases, it may be a sign of an underlying condition. For example, fetal chromosome disorders such as Down syndrome are slightly more common when a pericardial effusion is present. Additionally, fetal infections are slightly more common in babies with pericardial effusions.
For this reason, we discussed the option of some additional testing. Prior to your visit, you underwent noninvasive prenatal testing (NIPT). NIPT is designed to assess the risk for certain chromosome abnormalities by analyzing DNA fragments from the developing pregnancy that are found in maternal blood. NIPT currently detects trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and numerical sex chromosome abnormalities or genetic syndromes. Based on the studies of high risk pregnancies, NIPT appears to be a highly accurate test, however false positive and false negative results can occur. Standard diagnostic testing by amniocentesis remains an option regardless of NIPT results. Nonetheless, these common chromosome disorders are unlikely to be the cause of Jack’s pericardial effusion.
We also discussed the option of blood screening to determine if you have been exposed to the most common infectious agents that can cause fetal infections and pericardial effusions, cytomegalovirus (CMV), parvovirus and toxoplasma. You elected to pursue this testing at your visit and the results indicated no resent infections with any of these agents. Therefore, infection with one of these agents is also unlikely to be the cause of Jack’s pericardial effusion.
Therefore, at this time we do not know the cause of Jack’s pericardial effusion. If after delivery, the doctors caring for Jack identify additional concerns, further genetic testing may be ordered.
Finally, it is important to realize that the information in this letter is based on the family history you provided as well as currently available medical genetic information. If you have additional questions about the counseling, particular genetic concerns that were not discussed, or wish to know of advances in the diagnosis or treatment of specific genetic disorders, please contact us.