Document Detail

Prenatal screening for retinoblastoma in Hong Kong.
MedLine Citation:
PMID:  18840911     Owner:  NLM     Status:  MEDLINE    
We report the first use in Hong Kong of molecular techniques to screen prenatally for retinoblastoma and review 17 cases of retinoblastoma seen at the Hong Kong Eye Hospital from 2001 to 2006. A pregnant couple whose first child had retinoblastoma requested prenatal screening for retinoblastoma during their second pregnancy in 2000. Whole RB1 coding gene sequencing was performed on peripheral blood cells taken from family members and cultured amniocytes collected from the foetus during the 14th week of gestation. No RB1 gene mutations were found in the amniocyte samples and at birth the baby had no evidence of ocular tumours. During 5 years of follow-up the child remained healthy with intact visual function. Prenatal diagnosis of retinoblastoma alleviates parental stress and improves the perinatal care of affected family members.
Charles S L Lau; K W Choy; Dorothy S P Fan; Christopher B O Yu; C Y Wong; Dennis S C Lam; C P Pang
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine     Volume:  14     ISSN:  1024-2708     ISO Abbreviation:  Hong Kong Med J     Publication Date:  2008 Oct 
Date Detail:
Created Date:  2008-10-08     Completed Date:  2009-01-13     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9512509     Medline TA:  Hong Kong Med J     Country:  China    
Other Details:
Languages:  eng     Pagination:  391-4     Citation Subset:  IM    
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong.
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MeSH Terms
Genetic Testing*
Hong Kong
Polymerase Chain Reaction
Prenatal Diagnosis*
Retinal Neoplasms / diagnosis,  genetics*
Retinoblastoma / diagnosis,  genetics*
Retinoblastoma Protein / genetics
Reg. No./Substance:
0/Retinoblastoma Protein

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