Outcomes of universal antenatal screening for haemoglobinopathies

Abstract

Objective-To evaluate universal antenatal screening for haemoglobinopathies. Setting-District general hospital serving a London borough with 45% ethnic minorities. Methods-Retrospective cohort study of 1444 women referred in 1688 pregnancies and 95 tertiary referrals during 101 pregnancies. Results-Unselected women at risk for sickle cell disease booked 2.7 weeks (95% confidence interval (CI) 0.14 to 5.1) later in gestation than those at risk for thalassaemia were less likely to attend counselling (83% v 93%, relative risk (RR) 0.89; 95% CI 0.85 to 0.94), their partners were less likely to be tested (77% v 95%, RR 0.81; 0.77 to 0.83), and they were less likely to accept prenatal diagnosis (22% v 90%, RR 0.37; 0.24 to 0.57).Over 99% of tertiary referrals attended counselling and had their partners tested. There were no significant diVerences in acceptance of prenatal diagnosis between those at risk of sickle cell disease and thalassaemia (55% v 67%).Unselected women at risk of sickle cell disease were significantly less likely to have their partner tested or to accept prenatal diagnosis than tertiary referrals, but not those at risk of thalassaemia. 80% of thalassaemia and 16% of SS births were prevented. Conclusions-Uptake of prenatal diagnosis among unselected women at risk of thalassaemia is similar to that reported by tertiary centres. It is considerably lower for sickle cell disease but could increase considerably if screening occurred earlier in gestation.Acceptance of counselling is universally high, suggesting that informed choices are made, and indicating a need to measure these outcomes for cost eVectiveness studies. (J Med Screen 1999;6:3-10)

Carrier screening for Beta-thalassaemia: a review of international practice

“…A major outcome of thalassaemia carrier screening is a reduction in the incidence of thalassaemia. 25,[49][50][51] The main factors that can lead to a reduction in disease incidence is an increase in the uptake of prenatal diagnosis and use of reproductive technologies to prevent the births of affected children, 52 as well as a decrease in marriages between carriers. In many countries, a large majority of the affected foetuses detected are terminated.…”

“…53 Greengross and colleagues showed that 80% of b-thalassaemiaaffected births were prevented by the antenatal screening programme conducted at Central Middlesex Hospital between 1986 and 1995. 52,62 It is expected that the current universal antenatal carrier screening programme in the United Kingdom will further decrease the incidence of b-thalassaemia.…”

Parents' experiences of universal screening for haemoglobin disorders: implications for practice in a new genetics era

“…The increasing use of chorionic villus sampling early in pregnancy is likely to make prenatal diagnosis more popular across all communities. 7,30 Although more research into the perspectives of particular cultural or faith groups can raise awareness of concerns that are specific to those groups, it is important to bear in mind that this cannot be predictive of individual attitudes.…”

Sickle cell disease as a paradigm of immigration hematology: new challenges for hematologists in Europe

“…It should be acknowledged that while antenatal screening has had a major impact on the prevalence of thalassaemia in many countries, 7 the impact of antenatal screening in sickle cell disease has hitherto been modest 64 and the principal benefits may lie more in raising awareness and avoidance of subsequent pregnancies rather than reducing the number of affected children via prenatal diagnosis. Fourth, managed clinical networks adapted to local needs, resources and patterns of disease must be put in place to provide optimal care for newly identified and existing patients.…”