Factors affecting the uptake of prenatal diagnosis for sickle cell disease.

Abstract

Between 1979 and 1990, 170 couples at risk of having children with sickle cell disease, resident in the UK and with a continuing pregnancy, were referred for counselling at the University College Hospital Perinatal Centre. Approximately 50% of the couples, including those where one partner actually had sickle cell disease, requested prenatal diagnosis. This was requested in 82% of pregnancies when the mother was seen in the first trimester of pregnancy and in 49% when she was seen in the second trimester. More than 90% of referred couples who already had an affected child requested prenatal diagnosis. The type of sickle cell disease involved and ethnic group also influenced choice. These results show the importance of detecting and counselling couples at risk before pregnancy whenever possible. (J Med Genet 1992;29:820-3) rently, countrywide, 35 trained counsellors are working in 23 Health Authorities, 12 of them in six Health Authorities in North London (E Anionwu, personal communication). In England and the United States, about a third to a half of at risk couples counselled by a trained person request prenatal diagnosis.78 This suggests that a review of a series of cases may cast light on factors that influence the choices informed couples make. Here we report the results of a review of the records of pregnant women at risk for having children with sickle cell disease counselled at the UCH Perinatal Centre, which offers a regional and national service for prenatal diagnosis of haemoglobin disorders. The results show that choice is influenced by the nature of the genetic risk, ethnic group, experience of an affected family member, and the possibility of diagnosis in the first trimester of pregnancy. Clearly, couples at risk for having children with inherited diseases should be identified and provided with expert counselling either before or at the earliest possible stage of pregnancy.

Haemoglobinopathies in pregnancy

“…Uptake is higher in those at risk of thalassaemia (80%) compared with sickle cell disease (30-50%), and drops with advancing gestational age. 13,14 The same is true of termination of affected pregnancies. 15 Pre-implantation genetic diagnosis can give couples at high risk of an affected pregnancy an alternative to invasive prenatal diagnosis and termination of pregnancy.…”

Outcomes of universal antenatal screening for haemoglobinopathies

“…8 The high levels of attendance by women in this programme at both stages of counselling may reflect this, but further research is required to measure such outcomes.…”

“…8 These are unlikely to be underestimates, for two reasons. Firstly, selection bias, if it did operate, would be likely to exaggerate the performance of the service.…”

“…6 The impact of antenatal screening programmes is generally assessed by the uptake of prenatal diagnosis and termination of aVected pregnancies. [7][8][9][10][11][12][13][14] British studies of women seen as tertiary referrals at perinatal medicine centres have reported prenatal diagnosis uptake rates of 97% for thalassaemia 7 and 52% for sickle cell disease. 8 However, American studies suggest that these findings may not be generalisable to community based programmes [9][10][11] because the samples of women are unrepresentative.…”

Introductory Chapter: Introduction to the History, Pathology and Clinical Management of Sickle Cell Disease

“…Prior to this it was only possible to diagnose sickle cell disease via direct viewing of foetal blood. In some countries it has been in use for national screening programmes and rates of termination of pregnancy are as high as 74% in Cuba [37][38][39][40].…”