Utility of fetal muscle biopsy for diagnosis of nemaline myopathy.
OBJECTIVE
To report and discuss prenatal diagnosis of nemaline myopathy (NM) using fetal muscle biopsy.


METHODS
A consanguineous couple, with a history of a child with a clinical diagnosis of NM but no molecular genetic confirmation, was referred for prenatal diagnosis in two subsequent pregnancies. Fetal muscle biopsy with ultrasound guidance was undertaken at 22 and 21 weeks, respectively.


RESULTS
Immunohistochemical and ultrastructural analysis of the fetal muscle specimen from the first 'at-risk' pregnancy was consistent with a diagnosis of NM and that pregnancy was terminated. Analysis of the fetal muscle specimen from the subsequent pregnancy revealed no pathologic abnormality. The pregnancy continued, and the child is unaffected.


CONCLUSIONS
This represents the first reported prenatal diagnosis of NM by fetal muscle biopsy. Pathologic changes characteristic of NM can be identified in mid-second trimester fetal muscle.
Kasperski
Stefanie B
SB
The Center for Fetal Diagnosis and Treatment at the Children's Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA.
Brennan
Allison M
AM
Corteville
Jane E
JE
Finkel
Richard S
RS
Golden
Jeff
J
Johnson
Mark P
MP
Wilson
R Douglas
RD
D000328:Adult; D001706:Biopsy; D005260:Female; D005315:Fetal Diseases / Q000473:pathology*; D005865:Gestational Age; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology*; D017696:Myopathies, Nemaline / Q000473:pathology*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*