Prenatal diagnosis (PND) of β-thalassemia has been underutilized in Pakistan because of a number of social and economic factors. National Institute for Biotechnology and Genetic Engineering Faisalabad in collaboration with Multan Institute of Nuclear Medicine and Radiotherapy Multan introduced free PND service for carrier couples of Multan district. Multan has a population of about 4 million. More than 170 couples registered for retrospective PND and in 2 years 105 PND were carried out through first trimester chorionic villus sampling. Almost 90% of these couples were unable to afford the cost of PND and would not have undergone the test as free service was not available. Monoplex and Multiplex Amplification Refractory Mutation System-polymerase chain reaction and genomic DNA sequencing were used for detection of IVS (intervening sequence)-I-5 (G-C), FSC (frameshift codon)-8/9 (+G), FSC-41/42 (-TTCT), IVS-I-1 (G-T), 619 bp deletion, and CD-15 (G-A) β-globin mutations. Eighty-one percent (85/105) couples analyzed were in a consanguineous marriage. Twenty-three fetuses were found homozygous mutant and all couples opted for discontinuation of affected pregnancies. More families are registering for PND after establishment of this free and accessible PND service.
*Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad
†Multan Institute of Nuclear Medicine and Radiotherapy (MINAR), Multan
‡Department of Biochemistry, PMAS Arid Agriculture University Rawalpindi
§Chemical Pathology Laboratory, Children’s Hospital, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan
The funding for this project was provided by Higher Education Commission of Pakistan under indigenous PhD program and support to the University head, Pak-Danish Genetic Research Program and Swedish Research Council-Collaborative Research Program supported by Swedish Research Council.
The authors declare no conflict of interest.
Reprints: Shahid Mahmood Baig, PhD, Group Leader and Principal Scientist Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), PO Box 577, Faisalabad 38 000, Pakistan (e-mail: firstname.lastname@example.org;email@example.com).
Received January 19, 2011
Accepted August 16, 2011