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Poster Session 1

Category: Genetics

Poster Session 1

(382) Genetic evaluation and diagnostic findings in pregnant patients with renal disease

Wednesday, February 11, 2026

10:30 AM - 12:00 PM

Submitting Author and Presenting Author(s)

Taylor Moseley, BS

Medical Student
Baylor College of Medicine
Houston, Texas, United States

Coauthor(s)

Likhita Nandigam, BA (she/her/hers)

Medical Student
Baylor College of Medicine
Houston, Texas, United States
AD

Ansley Davis, BS

Medical Student
Baylor College of Medicine
Houston, Texas, United States
Christian M. Parobek, MD, PhD

Fellow
Baylor College of Medicine
Houston, Texas, United States
SS

Sai Kaumudi Saridey, MBBS

Baylor College of Medicine
Houston, Texas, United States
HL

Hendrik A. Lombaard, MD

Professor
Baylor College of Medicine
Houston, Texas, United States

Objective:
Renal disease in pregnancy is often attributed to lifestyle factors and other chronic diseases. However, genetic factors are estimated to contribute to as much as 40% of adult renal disease cases.1 We assessed the frequency of renal genetic testing in pregnant patients with chronic kidney disease (CKD) and end-stage renal disease (ESRD) and explored the genetic diagnoses identified.

Study Design:
This is an IRB-approved retrospective cohort study of pregnant patients with CKD and ESRD who received prenatal care at Texas Children’s Hospital in Houston, Texas, from 2011-2024. Subjects were identified by an ICD10-based search. Demographic, clinical, and genetic data were abstracted from the electronic health record. The primary outcomes were the proportion of patients who received renal genetic evaluation and workup. Bivariate analyses were used to identify associations between demographic or clinical factors and genetic outcomes. For identified genetic diagnoses, a qualitative content analysis was performed.

Results:
Of the 103 patients included, 93 had CKD and 10 had ESRD. Only 11 (11%) underwent a renal genetic workup before, during, or after pregnancy. Seven patients had pathogenic or likely pathogenic variants resulting in a genetic diagnosis that explained their renal disease. These occurred in seven genes and encompassed five diseases including Alport syndrome, polycystic kidney disease, nephronophthisis, Fanconi renotubular syndrome with monogenic diabetes, and congenital nephrotic syndrome. In most cases, diagnoses were made by renal panel or exome sequencing, though one was diagnosed via expanded carrier screening.

Conclusion:
For pregnant patients with renal disease, renal genetic evaluation is uncommon despite a high burden of genetic diagnoses. Overall, the spread of these genetic diseases reflects the diversity of CKD genetic causes. These findings suggest that a comprehensive renal genetic evaluation in pregnancies affected by renal disease is underutilized, and also highlight the diagnostic potential of expanded carrier screening for pregnant patients with renal disease.