title: β-Thalassemia in Pakistan: a pilot program on prenatal diagnosis in Multan.
abstract: 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.
authors.affiliation: Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan. shahidbaig@nibge.org
authors.forename: Shahid
authors.initials: S
authors.lastname: Mahmood Baig
authors.forename: Dure
authors.initials: D
authors.lastname: Sabih
authors.forename: Muhammad Kashif
authors.initials: MK
authors.lastname: Rahim
authors.forename: Aysha
authors.initials: A
authors.lastname: Azhar
authors.forename: Muhammad
authors.initials: M
authors.lastname: Tariq
authors.forename: Muhammad
authors.initials: M
authors.lastname: Sajid Hussain
authors.forename: Syed Muhammad
authors.initials: SM
authors.lastname: Saqlan Naqvi
authors.forename: Ghazala Kaukab
authors.initials: GK
authors.lastname: Raja
authors.forename: Tahir Naeem
authors.initials: TN
authors.lastname: Khan
authors.forename: Muhammad
authors.initials: M
authors.lastname: Jameel
authors.forename: Zahra
authors.initials: Z
authors.lastname: Iram
authors.forename: Samia
authors.initials: S
authors.lastname: Noor
authors.forename: Usman Raza
authors.initials: UR
authors.lastname: Baig
authors.forename: Javed Anver
authors.initials: JA
authors.lastname: Qureshi
authors.forename: Shehla Anjum
authors.initials: SA
authors.lastname: Baig
authors.forename: Syeda Marriam
authors.initials: SM
authors.lastname: Bakhtiar
mesh_terms: D005260:Female; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006801:Humans; D010154:Pakistan / Q000453:epidemiology; D010865:Pilot Projects; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*