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

Available for download on Wednesday, April 20, 2022

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