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Outcomes for Patients with Congenital Ventriculomegaly Identified on Prenatal Imaging

Coronel, Anna
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1649927714013737

Abstract Details

2022, MS, University of Cincinnati, Medicine: Genetic Counseling.
Congenital hydrocephalus is a common birth defect that occurs when excess cerebrospinal fluid (CSF) builds up inside the brain causing enlargements of the ventricles (ventriculomegaly) and increased intracranial pressure. It has a damaging effect on the brain and has been associated with high morbidity and poor neurodevelopmental outcomes. There is interest about whether prenatal intervention could improve. The Cincinnati Children’s Fetal Care Center is currently investigating a prenatal intervention for fetal ventriculomegaly in an animal model, and if successful, a clinical trial in human subjects will be needed. However, some fetuses with ventriculomegaly have other comorbidities such as genetic conditions, other congenital anomalies, infection, and other exposures that may impact their clinical outcomes and confound the results of a clinical. Therefore, this study aimed to evaluate whether such comorbidities impact the mortality rate and/or neurologic outcomes of patients with congenital ventriculomegaly. This was a retrospective cohort study of patients diagnosed with congenital ventriculomegaly followed at Cincinnati Children’s Hospital Medical Center between Jan 1, 2010-Dec 31, 2020. Of the 91 patients included in the study, prenatal ventricle measurements were between 10-14.99 mm in 40 (44.0%), 15-19.99 mm in 26 (28.6%), and =20 mm in 25 (27.5%). Greater than half of the patients (60.4%) had other central nervous system (CNS) anomalies noted on prenatal imaging, with the most common anomalies being an absent septum pellucidum (n=12, 13.2%) and aqueductal stenosis (n=11, 12.1%). Thirty-three (36.3%) patients had at least one non-CNS anomaly noted on prenatal imaging, most commonly renal anomalies (n=13, 14.3%). Most patients (72.5%) were reported to have polyhydramnios. Nineteen (20.9%) were born preterm and 18 (19.8%) were born at a low or very low birth weight. Sixty-five (71.4%) were admitted to the NICU with an average length of stay of 23.6 days. Twenty (22.0%) had a genetic diagnosis with the most common genetic condition being trisomy 21 (n=6, 6.6%). The prenatal identification of non-CNS anomalies was not associated with an increased risk of mortality (p=0.19) nor developmental delay (p=0.31) when compared to patients with ventriculomegaly with or without other CNS anomalies. The presence of other comorbidities (e.g. additional anomalies identified after birth, prenatal infections, maternal diabetes, and other exposures), also did not increase the risk for mortality (p=0.64) nor developmental delay (p=0.15). In addition, ventriculomegaly =15 mm was not associated with an increase in mortality (p=0.29) nor developmental delay (p=0.12) compared to patients with ventriculomegaly <15 mm. The mortality rate was higher for patients with a genetic diagnosis compared to those without a genetic diagnosis (p=0.022), as was the rate of developmental delay (p=0.026). Patients diagnosed prenatally with ventriculomegaly who also have a genetic diagnosis have a significantly higher risk of early mortality and developmental delay compared to those without a genetic diagnosis. However, additional non-CNS anomalies or other comorbidities (e.g. prenatal exposures or infection) did not have an increased risk of mortality nor developmental delay. Therefore, diagnostic genetic testing should be considered after prenatal identification of ventriculomegaly to facilitate counseling about prognosis and care management.
Melanie Myers, Ph.D. (Committee Member)
Karin Bierbrauer (Committee Member)
Leandra Tolusso, M.S. (Committee Member)
Jose Peiro, M.D. Ph.D. M.B.A. (Committee Member)
Hua He, M.S (Committee Member)
39 p.
Surgery
Congenital hydrocephalus; ventriculomegaly; fetal therapy; developmental delay; mortality; genetic condition

Recommended Citations

Citations

  • Coronel, A. (2022). Outcomes for Patients with Congenital Ventriculomegaly Identified on Prenatal Imaging [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1649927714013737

    APA Style (7th edition)

  • Coronel, Anna. Outcomes for Patients with Congenital Ventriculomegaly Identified on Prenatal Imaging. 2022. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1649927714013737.

    MLA Style (8th edition)

  • Coronel, Anna. "Outcomes for Patients with Congenital Ventriculomegaly Identified on Prenatal Imaging." Master's thesis, University of Cincinnati, 2022. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1649927714013737

    Chicago Manual of Style (17th edition)

ucin1649927714013737
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This open access ETD is published by University of Cincinnati and OhioLINK.