Recent studies indicate that fetal cells persist in maternal blood for deca
des after pregnancy. Maternal cells are known to engraft and persist in inf
ants with immunodeficiency, but whether maternal cells persist long-term in
immunocompetent offspring has not specifically been investigated. We devel
oped sensitive human leukocyte antigen-specific (HLA-specific) PCR assays a
nd targeted nonshared maternal HLA genes to test for persistent maternal mi
crochimerism in subjects with scleroderma and in healthy normal subjects. N
onshared maternal-specific DNA was found in 6 of 9 scleroderma patients. In
situ hybridization with double labeling for X and Y chromosome-specific se
quences revealed female cells in peripheral blood samples from 2 male scler
oderma patients. HLA-specific PCR also frequently revealed persistent mater
nal microchimerism in healthy control subjects. The mean age of all subject
s with maternal microchimerism was 28 years (range: 9-49 years). With few e
xceptions, mothers of subjects with persistent maternal microchimerism were
HLA incompatible with subjects for class I and class II alleles. These res
ults clearly indicate that HLA-disparate maternal cells can persist in immu
nocompetent offspring well into adult life. The biological significance of
maternal microchimerism and whether it might contribute to autoimmune disea
se requires further investigation.