Author ORCID Identifier
0000-0002-1384-2843
Date of Graduation
5-2021
Document Type
Thesis (MS)
Program Affiliation
Genetic Counseling
Degree Name
Masters of Science (MS)
Advisor/Committee Chair
Blair K. Stevens, MS, CGC
Committee Member
Myla Ashfaq, MS, CGC
Committee Member
Miriam Nuño, PhD
Committee Member
Eric Bergh, MD
Committee Member
Theresa Wittman, MS, CGC
Committee Member
Suzanne Lopez, MD
Abstract
An absent cavum septum pellucidum (CSP) has traditionally been associated with a wide range of neuroanatomical anomalies. With recent advancements in prenatal imaging, however, an absent CSP that occurs in isolation of other anomalies is becoming a more frequent finding. Yet knowledge of clinical outcomes remain limited. Our study aims to describe ultrasound abnormalities associated with an absent CSP and the postnatal outcomes of an isolated, absent CSP. Additionally, we explore the accuracy of prenatal ultrasounds in evaluating for an absent CSP. This is a retrospective study of all cases diagnosed with an absent CSP between January 1, 2009 and June 2, 2020 at our institution. Cases with additional structural abnormalities were included in a prenatal chart review. A postnatal chart review was only performed for cases in which the absent CSP occurred in isolation. Clinical outcomes were largely obtained from available medical records. When medical records were unavailable, outcomes were obtained directly from the child’s mother via phone survey. We identified 158 patients who were referred to our institution for a suspected absent or absent CSP. Follow-up imaging revealed that 25.9% of patients had a iv present CSP, 63.9% had an absent CSP in conjunction with other abnormalities, and 10.1% (N=16) were found to have a prenatally isolated, absent CSP. Outcome data was available for 10 of these 16 patients. Through postnatal evaluation of our isolated, absent CSP cohort, we found that two patients had discordant postnatal imaging and one patient received a diagnosis of SOD. Most patients who retained a diagnosis of an isolated, absent CSP postnatally had developmental delay ranging from mild motor and speech delay to global developmental delay (n=5/6). Our study found that fetal MRIs may be more sensitive in diagnosing a prenatally suspected isolated, absent CSP, but are not accurate predictors of who may ultimately receive a SOD diagnosis. In conclusion, an absent CSP is often associated with additional abnormalities. When isolated, the risk for SOD and developmental delays is increased.
Keywords
Fetal MRI, Fetal Anomaly, Fetal Ultrasound, Genetic Counseling