Opportunities for renal genetic evaluation among pregnant patients with kidney disease

Chronic kidney disease (CKD) can significantly affect pregnancy management and outcomes. Although up to 40% of adults with renal disease have an identifiable genetic cause, most pregnant patients with CKD do not undergo genetic testing, hindering tailored management during and after pregnancy. We assessed which pregnant patients with CKD were more likely to be referred for and undergo genetic counseling and testing.

This was an Institutional Review Board-approved retrospective cohort study of all patients who received prenatal care at Texas Children's Hospital between 2011 and 2024 and had a diagnosis of CKD or end-stage renal disease (ESRD). Patients were identified using International Classification of Diseases, 10th Revision (ICD-10) codes in the electronic medical record. Demographic, clinical, and genetic data were abstracted and overlaid with social vulnerability index data (2022 release). Bivariate analyses were used to assess associations between demographic and clinical factors and genetic evaluation.

A total of 103 pregnant patients had a diagnosis of CKD or ESRD. The median gestational age at entry to prenatal care was 8.6 weeks. While a majority of patients (64%) were referred to genetic counseling for any reason, only one in four (27%) referrals mentioned a renal indication. Even fewer patients (8%) underwent genetic testing before, during, or after pregnancy to determine the etiology of their chronic renal disease. Among demographic, socioeconomic, and clinical variables, only renal transplant and a family history of renal disease were associated with a recommendation for a renal genetic workup. Commercial insurance coverage was associated with completion of a renal genetic workup.

The majority of pregnant patients with renal disease did not undergo renal genetic testing before, during, or after pregnancy. Commercial insurance coverage was the only demographic, socioeconomic, or clinical factor significantly associated with completion of a genetic workup. While genetic evaluation for renal disease among pregnant patients is associated with insurance status, it is underutilized across demographic and socioeconomic sectors and should be considered for pregnant patients with renal disease.