Fetal Exome Sequencing in Diagnosing Chondrodysplasia Punctata Associated with Maternal Systemic Lupus Erythematosus: A Case Report

Abstract

Chondrodysplasia punctata (CDP) is a rare congenital disorder characterized by midface hypoplasia, stippled epiphyses, and limb shortening. Among the heterogeneous factors that cause CDP, maternal autoimmune conditions have caused 34 cases, including ours, to date. We describe a previously unreported case of CDP associated with maternal systemic lupus erythematosus (SLE). A 27-year-old G1P0 patient with a known history of SLE with anti-Ro/SSA autoantibodies was evaluated at our center at 21w1d. After reviewing fetal imaging and negative karyotype, microarray, and exome sequencing, our clinical team agreed upon establishing a clinical diagnosis of maternal SLE-associated CDP at 21 weeks' gestation. The combination of negative exome sequencing, karyotype, and chromosomal microarray analysis and relevant clinical findings enabled us to make the appropriate diagnosis at 21 weeks rather than in the third trimester or postnatally when additional phenotypic features became apparent. This earlier diagnosis provided the clinical team with time to assess additional recommended management and referrals and perhaps more importantly, provided the patient with additional time to consider her pregnancy options.

Keywords

fetal chondrodysplasia punctata - maternal SLE - systemic lupus erythematosus - exome sequencing - genetic testing - prenatal imaging

Previous Presentations

Miller, C. & Micke, K (May 19, 2023). Utility of negative fetal exome sequencing in diagnosing chondrodysplasia punctata associated with maternal systemic lupus erythematosus: a case report. Poster presentation at Colorado Clinical and Translational Sciences Institute (CCTSI) Annual Spring Pediatric Research Poster Session, Aurora, CO. Miller, C. & Micke, K (March 16, 2023). Utility of negative fetal exome sequencing in diagnosing chondrodysplasia punctata associated with maternal systemic lupus erythematosus: a case report. Poster presentation at the Annual Conference of the American College of Medical Genetics, Salt Lake City, UT.

Patients' Consent

Written informed consent was obtained from the participant. The privacy rights of the participant were respected. Patient data and imaging were not published without written permission.

Statement of Conforming to Declaration of Helsinki

The work was conducted in accordance with the Declaration of Helsinki.

Authors' Contributions

C.M. contributed to conceptualization, data curation, project administration, visualization, writing–original draft, and writing–review and editing. K.M. contributed to conceptualization, data curation, project administration, resources, supervision, and writing–review and editing.

Publication History

Article published online:
25 April 2025

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