In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy.
OBJECTIVE
We have previously shown that Duchenne muscular dystrophy (DMD) can be diagnosed by fetal muscle biopsy and immunohistochemical staining showing the absence of dystrophin. In Becker muscular dystrophy (BMD), there is a variable dystrophin staining pattern.


METHODS
A 26-year-old, gravida 5, para 1, SAB 2, VIP 1, white female had a son with the diagnosis of BMD, with no other affected family members. In the current pregnancy, the male fetus inherited the same X chromosome.


RESULTS
Fetal muscle biopsy revealed no dystrophin, consistent with the diagnosis of DMD, prompting re-analysis of the sibling whose diagnosis was then changed to DMD.


CONCLUSIONS
Molecular techniques in prenatal diagnosis in this case not only led to the diagnosis of a severe disorder in the current pregnancy, but changed the diagnosis in another child, allowing for more appropriate counseling of this couple.
Evans
M I
MI
Department of Obstetrics and Gynecology, Hutzel Hospital/Wayne State University School of Medicine, Detroit 48201, USA.
Krivchenia
E L
EL
Johnson
M P
MP
Quintero
R A
RA
King
M
M
Pegoraro
E
E
Hoffman
E P
EP
D000028:Abortion, Induced; D000328:Adult; D001706:Biopsy / Q000379:methods; D003951:Diagnostic Errors; D016189:Dystrophin / Q000032:analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D016189:Dystrophin