Prenatal diagnosis of beta-thalassaemia in Pakistan: experience in a Muslim country

Abstract

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.

Premarital screening for β-thalassaemia in Southern Iran: options for improving the programme

“…As the cost of medical expenses of these patients is provided by the Ministry of Health and Medicine, the government itself is monitoring the prevention programme. Due to cultural and religious restrictions on abortion in Islamic countries, 19,20 the routine prevention of the birth of thalassaemic children by this means was not possible. The religious authorities in Iran have allowed abortion at 16 weeks of gestation for the last three years; however, there are still many limitations for abortion, such as high expenses and inadequate facilities.…”

Decision-Making and Ante-Natal Screening for Sickle Cell and Thalassaemia Disorders

“…Decision making about prenatal diagnosis, however, is multifaceted and it is impossible to generalize (de Montalembert et al, 1996;Modell et al, 1997;Atkin et al, 1998;Ahmed, et al, 2000;Parker et al, 2002;Tsianakas and Liamputtong, 2002). Even among Muslim populations, who demonstrate even greater reluctance to terminate pregnancies than other religious groups, one study has shown that 67 per cent say that they would consider termination following a prenatal diagnosis of thalassaemia (Hewison et al, 2004).…”

‘All is done by Allah’. Understandings of Down syndrome and prenatal testing in Pakistan

“…Under Pakistani law, it is illegal to carry out an abortion except if the mother"s life is in danger. However, service providers can seek Fatwas (religious decrees) from religious scholars that give permission for abortion before 120 days gestation in cases where a fetus is affected by a disorder of a "severe nature" (Ahmed, Saleem, Sultana, Raashid, Waqar, & Anwar, 2000). Q-Methodology combines quantitative techniques and analyses with broadly qualitative approaches to sampling and pattern interpretation (Stenner, Watts, & Worrell, 2008;Watts & Stenner, 2005).…”