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Full text release has been delayed at the author's request until April 25, 2026

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Differences in prenatal and postnatal phenotypic evaluations in patients with congenital anomalies and known genetic diagnoses.

Horton, Nicole
http://orcid.org/0009-0000-0948-5479
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1712916482861298

Abstract Details

2024, MS, University of Cincinnati, Medicine: Genetic Counseling.
Objectives Significant gaps exist in the understanding of the presentation of genetic conditions across the lifespan, particularly during the prenatal period. This study aimed to describe the limitations of prenatal phenotyping by detailing the differences between prenatal and postnatal evaluations of neonates with genetic conditions. Methods We conducted a retrospective chart review of neonates with genetic diagnoses who previously received a detailed prenatal phenotype evaluation by fetal ultrasound, MRI, and echocardiogram at the Cincinnati Children’s Fetal Care Center (CCFCC) between July 2018 and October 2022. Details of the prenatal and postnatal phenotypes were collected using Human Phenotype Ontology (HPO) terms to compare findings between the time points. Results Between July 2018 and October 2022, there were 85 neonates with genetic diagnoses who were prenatally evaluated in the CCFCC; these patients either received diagnoses prenatally (n=38), postnatally (n=45), or differing diagnoses before and after birth (n=2). The number of HPO terms significantly increased after postnatal evaluation (mean: 8.45) compared to what was identified prenatally at time of referral (mean: 3.45) (p<0.001) and during CCFCC evaluation (mean: 4.41) (p<0.001). There was a significant increase in the number of anomalies noted postnatally in most body systems compared to what was observed prenatally, including the musculoskeletal, nervous, genitourinary, head and neck, and respiratory systems. Conclusions There is a significant increase in phenotypic information in most body systems that becomes available as a fetus grows and after a child is born. Thus, fetuses with anomalies should be evaluated at multiple time points during prenatal life and after birth to ensure comprehensive phenotype information is available, particularly when a genetic etiology is suspected since most genetic testing and interpretation is phenotype driven. Awareness of body systems that are difficult to evaluate prenatally may improve prenatal variant curation by placing less value in the absence of postnatal phenotypic findings that may be characteristic of a certain disorder. The identification of a genetic diagnosis during the prenatal period is important to provide more time for families to adapt to the diagnosis and allow for better informed perinatal medical management decisions.
Melanie Myers, Ph.D. (Committee Chair)
Leandra Tolusso, M.S. (Committee Member)
Daniel Swarr (Committee Member)
Hua He, M.S. (Committee Member)
Kimberly Widmeyer (formerly Lewis), MS (Committee Member)
83 p.
Genetics
fetal phenotyping; congenital anomaly; genetics evaluation; genotype-phenotype; inpatient genetics; genetic diagnosis

Recommended Citations

Citations

  • Horton, N. (2024). Differences in prenatal and postnatal phenotypic evaluations in patients with congenital anomalies and known genetic diagnoses. [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1712916482861298

    APA Style (7th edition)

  • Horton, Nicole. Differences in prenatal and postnatal phenotypic evaluations in patients with congenital anomalies and known genetic diagnoses. 2024. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1712916482861298.

    MLA Style (8th edition)

  • Horton, Nicole. "Differences in prenatal and postnatal phenotypic evaluations in patients with congenital anomalies and known genetic diagnoses." Master's thesis, University of Cincinnati, 2024. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1712916482861298

    Chicago Manual of Style (17th edition)

ucin1712916482861298
© 2024, all rights reserved.
This open access ETD is published by University of Cincinnati and OhioLINK.