Document Detail

Prenatal diagnosis of beta-thalassaemia in Pakistan: experience in a Muslim country.
MedLine Citation:
PMID:  10820404     Owner:  NLM     Status:  MEDLINE    
A service for prenatal diagnosis of beta-thalassaemia was introduced in Pakistan in May 1994. Two renowned Islamic scholars, consulted before the service was introduced, ruled that a pregnancy can be terminated if the fetus is affected by a serious genetic disorder, and if termination is before 120 days (17 weeks) of gestation. During the first 3(1/2) years of the service 300 couples requested the test. Almost all the couples had been informed by their treating doctors. Most diagnoses were made between 10 and 16 weeks of gestation, and only 15 (5%) were reached after the 16th week. DNA analysis was by the amplification refractory mutation system (ARMS). A multiplex ARMS was developed in which three primer combinations identified the mutations in 91.5% of the couples. In 13 couples (4. 3%) linkage analysis was required for the fetal diagnosis. In 47/53 (88.7%) women carrying an affected fetus the pregnancy was terminated. In six cases it was declined principally on religious grounds. Postnatal confirmation of the prenatal diagnosis was possible in 117 unaffected children. One year after the start of the service, interviews with 141 couples with an affected child showed that 72% knew of the availability of prenatal diagnosis. Thirty-two of the informed couples had had a pregnancy, but only 18 (56%) used prenatal diagnosis. The main reasons for non-utilization of prenatal diagnosis were the cost of the test and fear of undergoing the test, though some gave no clear explanation. This study demonstrates that prenatal diagnosis is feasible and acceptable in a Muslim country such as Pakistan.
S Ahmed; M Saleem; N Sultana; Y Raashid; A Waqar; M Anwar; B Modell; K A Karamat; M Petrou
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  20     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2000 May 
Date Detail:
Created Date:  2000-06-30     Completed Date:  2000-06-30     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  378-83     Citation Subset:  IM    
Copyright Information:
Copyright 2000 John Wiley & Sons, Ltd.
Armed Forces Institute of Pathology, Rawalpindi, Pakistan.
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MeSH Terms
Chorionic Villi Sampling
DNA / analysis
DNA Mutational Analysis
Gestational Age
Patient Education as Topic
Polymerase Chain Reaction
Prenatal Diagnosis* / psychology
beta-Thalassemia / diagnosis*,  genetics*
Reg. No./Substance:

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