Document Detail

Osteogenesis imperfecta type IV: Prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome.
MedLine Citation:
PMID:  22795107     Owner:  NLM     Status:  Publisher    
OBJECTIVE: To present molecular diagnosis and genetic counseling for osteogenesis imperfecta (OI) type IV in a pregnancy carried to term with favorable outcome. CASE REPORT: A 34-year-old, primigravid woman was referred for genetic counseling in the second trimester because of advanced maternal age and a positive family history of OI type IV. Her husband had a weight of 40kg and a height of 145cm. Her husband had normal sclerae, moderate short stature and osteopenia, and had sustained multiple fractures with minimal trauma since childhood. The husband and his relatives including his mother, aunt, uncle, sister and nephew had suffered from OI type IV. Molecular analysis of the affected individuals in the family revealed a G to T change at position c.2197 (c.2197G>T, GGT>TGT) of the exon 37 in the COL1A2 gene leading to a change of glycine at codon 733 to cysteine (G733C). Cytogenetic analysis of cultured amniocytes revealed a karyotype of 46,XY. Molecular analysis of uncultured amniocytes revealed a missense mutation of G733C in COL1A2. Level II ultrasound at 23 weeks of gestation revealed significant shortness of the limbs. Small stature for gestation age was obvious in the third trimester. At 37 weeks of gestation, a fetal ultrasound showed curvature of the femurs. A cesarean section was performed at 38 weeks of gestation, and a male baby was delivered uneventfully. The baby had normal sclerae, a body weight of 2190g (< 5(th) centile) and a body length of 46cm (< 5(th) centile). X-rays showed thin clavicles and short curved femurs but no bony fractures. No fractures were noted at the age of 1 month. CONCLUSION: The present case adds to previous examples of favorable outcome in pregnancies with non-lethal forms of OI.
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Ming-Huei Lin; Jun-Wei Su; Wayseen Wang
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Publication Detail:
Journal Detail:
Title:  Taiwanese journal of obstetrics & gynecology     Volume:  51     ISSN:  1875-6263     ISO Abbreviation:  -     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-7-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101213819     Medline TA:  Taiwan J Obstet Gynecol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  271-275     Citation Subset:  -    
Copyright Information:
Copyright © 2012. Published by Elsevier B.V.
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
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