PRENATAL DIAGNOSIS OF BETA-THALASSAEMIA IN PAKISTAN: EXPERIENCE IN A MUSLIM COUNTRY

Authors: Suhaib Ahmed1, Mohammad Saleem1, Nadra Sultana2, Yasmeen Raashid3, Amin Waqar1, Masood Anwar1, Bernadette Modell4, Karamat A. Karamat1 and Mary Petrou.

Overview:

A service for prenatal diagnosis of b-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 ®rst 3K 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 ampli®cation refractory
mutation system (ARMS). A multiplex ARMS was developed in which three primer combinations identi®ed
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 con®rmation 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 nonutilization
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