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.

Attitudes towards prenatal diagnosis and termination of pregnancy for thalassaemia in pregnant Pakistani women in the North of England

“…A number of authors suggest that most Pakistani couples at risk of having a child with β-thalassaemia major are in favour of termination of pregnancy for the condition (Ahmed et al, 2000;Modell et al, 2000a), particularly if prenatal diagnosis and termination of pregnancy are offered in the first trimester of pregnancy (Petrou et al, 1990). So the low reduction in the number of births of children affected with β-thalassaemia major in the United Kingdom may be because prenatal diagnosis is offered late (Modell et al, 1997) or services are being withheld by health professionals owing to their assumptions that Pakistanis would not opt for termination because of their religious beliefs (Atkin and Ahmad, 1998;Anionwu and Atkin, 2001).…”

“…There is no equivalent ruling on termination of pregnancy in the Islamic state of Pakistan, although prior to the introduction of prenatal diagnosis in Pakistan, Ahmed et al (2000) consulted two renowned Pakistani religious scholars, who confirmed that abortion for a confirmed severe disorder is permissible within 120 days of gestation. These different Islamic authorities prohibit termination of pregnancy after 120 days, even if the foetus is affected, although termination is permissible after 120 days if the foetus poses a threat to the life of the pregnant woman.…”

“…These different Islamic authorities prohibit termination of pregnancy after 120 days, even if the foetus is affected, although termination is permissible after 120 days if the foetus poses a threat to the life of the pregnant woman. Various studies report that individuals' religious convictions influence their decisions, resulting in their not opting for prenatal diagnosis and/or termination of pregnancy for β-thalassaemia major (Zahed and Bou-Dames, 1997;Ahmed et al, 2000;Alkuraya and Kilani, 2001). Ahmed et al (2000) add that prenatal diagnosis and termination of pregnancy is acceptable in a Muslim country such as Pakistan when people are aware of a Fatwa (religious ruling) that allows termination of pregnancy if the foetus is affected by a serious genetic condition and if termination is done before 120 days of gestation.…”

“…Various studies report that individuals' religious convictions influence their decisions, resulting in their not opting for prenatal diagnosis and/or termination of pregnancy for β-thalassaemia major (Zahed and Bou-Dames, 1997;Ahmed et al, 2000;Alkuraya and Kilani, 2001). Ahmed et al (2000) add that prenatal diagnosis and termination of pregnancy is acceptable in a Muslim country such as Pakistan when people are aware of a Fatwa (religious ruling) that allows termination of pregnancy if the foetus is affected by a serious genetic condition and if termination is done before 120 days of gestation. Ahmed et al (2000) suggest that people are likely to refuse termination on religious grounds, but are unaware of or have misconceptions about this Islamic standpoint on termination of pregnancy.…”

“…Ahmed et al (2000) add that prenatal diagnosis and termination of pregnancy is acceptable in a Muslim country such as Pakistan when people are aware of a Fatwa (religious ruling) that allows termination of pregnancy if the foetus is affected by a serious genetic condition and if termination is done before 120 days of gestation. Ahmed et al (2000) suggest that people are likely to refuse termination on religious grounds, but are unaware of or have misconceptions about this Islamic standpoint on termination of pregnancy. These misconceptions probably arise from 'the low rate of literacy which makes it difficult for people to distinguish between their religious and traditional or cultural beliefs' (Ahmed et al, 2000).…”