Utility of fetal muscle biopsy for diagnosis of nemaline myopathy.

OBJECTIVES: 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. CONCLUSION: 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.

Prenatal evaluation of the fetus with limb deficiency/hypoplasia - A case report and review of common congenital limb anomalies.

Congenital limb deficiencies/hypoplasias are a heterogeneous group of anomalies that range from mild abnormalities of little long-term clinical significance to the severe limb-reduction defects spectrum associated with fetal thalidomide exposure. This article reviews the approach to the prenatal evaluation of congenital limb deficiency/hypoplasia and provides an overview of selected limb reduction defects along with a discussion of etiology and genetic aspects. A case report detailing the prenatal evaluation of a fetus with a skeletal dysplasia illustrates the importance of a comprehensive, multidisciplinary and dysmorphology-based approach.