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.