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

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Uptake of genetic testing for infants with congenital heart disease: Impact of prenatal vs postnatal genetic counseling

Rajan, Rhea
http://orcid.org/0009-0003-9294-4964
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1712917056618511

Abstract Details

2024, MS, University of Cincinnati, Medicine: Genetic Counseling.
Congenital heart disease (CHD) is the most common birth defect, with approximately 25% having a primary genetic etiology. Expert consensus guidelines recommended genetic testing for apparently isolated CHD (iCHD) in infants. Prenatal CHD detection (8% diagnosed prior to birth) allows for earlier genetic counseling. Timing of genetic counseling can affect parental decision-making and genetic testing uptake (prenatal vs postnatal). The primary aim of this study was to examine postnatal genetic testing uptake among families of infants with apparently isolated CHD who received prenatal versus postnatal cardiac genetic counseling. We hypothesized that families of infants who received prenatal genetic counseling would have a higher uptake of postnatal genetic testing than those who received postnatal genetic counseling. A retrospective chart review was completed for infants admitted to the Cincinnati Children’s Hospital Medical Center (CCHMC) Cardiac Intensive Care Unit (CICU) between January 1, 2019 and April 30, 2023 for an apparently isolated CHD. Eligible patients were seen by cardiovascular genetic counselors (CVGC) either prenatally or postnatally for discussion of postnatal genetic testing. A total of 228 infants were eligible for inclusion in the retrospective chart review. Of these, 76 families received prenatal genetic counseling from a CVGC and 152 were counseled postnatally. Patients receiving prenatal genetic counseling were four times more likely to consent for postnatal genetic testing (OR=4.4, p=0.03) than those seen in the postnatal period. Yield of diagnostic genetic testing was 14%, of which 60% were copy number variants and 40% were single nucleotide variants. Families of infants with CHD who met with a CVGC prenatally were significantly more likely to consent for postnatal genetic testing. Although expert consensus statements often recommend chromosomal microarray as a first line of genetic testing for iCHD, the yield reported in our study supports consideration of CHD gene panels for all infants with iCHD. Preliminary results suggest prenatal genetic counseling for iCHD, with consideration of comprehensive genetic testing including copy number variant analysis and gene sequencing, should be considered standard of care.
Erin Miller, M.S. L. (Committee Chair)
Amy Shikany, MS (Committee Member)
Cara Barnett, M.S. (Committee Member)
Nicole Weaver, M.D. (Committee Member)
Hua He, M.S. (Committee Member)
Nadine Kasparian, Ph.D. (Committee Member)
James Cnota, M.D. (Committee Member)
48 p.
Genetics
Cardiology; genetic testing uptake; isolated congenital heart disease; genetic testing; pediatrics; service delivery models

Recommended Citations

Citations

  • Rajan, R. (2024). Uptake of genetic testing for infants with congenital heart disease: Impact of prenatal vs postnatal genetic counseling [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1712917056618511

    APA Style (7th edition)

  • Rajan, Rhea. Uptake of genetic testing for infants with congenital heart disease: Impact of prenatal vs postnatal genetic counseling. 2024. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1712917056618511.

    MLA Style (8th edition)

  • Rajan, Rhea. "Uptake of genetic testing for infants with congenital heart disease: Impact of prenatal vs postnatal genetic counseling." Master's thesis, University of Cincinnati, 2024. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1712917056618511

    Chicago Manual of Style (17th edition)

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