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
