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Type: Journal article
Title: Effectiveness of earlier antenatal screening for sickle cell disease and thalassaemia in primary care: cluster randomised trial
Author: Dormandy, E.
Gulliford, M.
Bryan, S.
Roberts, T.
Calnan, M.
Atkin, K.
Karnon, J.
Logan, J.
Kavalier, F.
Harris, H.
Johnston, T.
Anionwu, E.
Tsianakas, V.
Jones, P.
Marteau, T.
Citation: British Medical Journal, 2010; 341(7779):C5132-1-C5132-10
Publisher: British Med Journal Publ Group
Issue Date: 2010
ISSN: 0959-535X
Statement of
Elizabeth Dormandy, Martin Gulliford, Stirling Bryan, Tracy E Roberts, Michael Calnan, Karl Atkin, Jonathan Karnon, Jane Logan, Fred Kavalier, Hilary J Harris, Tracey A Johnston, Elizabeth N Anionwu, Vicki Tsianakas, Patricia Jones, Theresa M Marteau
Abstract: Objective: To evaluate the effectiveness of offering antenatal screening for sickle cell disease and thalassaemia in primary care as a way of facilitating earlier uptake of screening. Design: Partial factorial cluster randomised controlled trial. Setting: 25 UK general practices from deprived inner city areas. Participants: Anonymised data on all pregnant women attending participating practices during a six month period before randomisation and a seven month period after randomisation. This included 1708 eligible women. Intervention: Practices were randomised to three groups for seven months: parallel testing in general practice (tests for sickle cell disease and thalassaemia offered to both parents when pregnancy was first reported); sequential testing in general practice (tests offered to mothers when pregnancy was first reported, and subsequently to the partners of women who were found to be carriers); and midwife care (tests offered to mothers at first consultation with a midwife). Main outcome measures: The primary outcome (available for all women) was the proportion of eligible women screened before 10 weeks’ (70 days’) gestation. Secondary outcomes were an offer of screening to women before 10 weeks’ gestation, gestational age at testing, mean interval from first visit to the general practice visit to screening, and women’s knowledge of the carrier status of their baby’s father before 77 days’ (11 weeks’) gestation. The study was designed to detect a 20% absolute increase in screening uptake. Cluster level analyses were adjusted for age group, parity, ethnic group, primary care organisation, and number of general practitioners per practice. Results: Data were analysed for 1708 eligible women. In the midwife care arm, 2% (9/441) of women were screened before 10 weeks’ gestation compared with 24% (161/677) in the GP parallel testing arm and 28% (167/590) in the GP sequential testing arm. The estimated adjusted difference between the midwife care and GP parallel testing arms was 16.5% (95% confidence interval 7.1% to 25.8%; P=0.002) and between the midwife care and GP sequential testing arms was 27.8% (14.8% to 40.7%; P<0.001). By 26 weeks’ gestation the proportion of women screened across the three trial arms was similar (81%). The proportion of women who knew the carrier status of the baby’s father by 11 weeks’ gestation was 0% (0/441) in the midwife care arm, 2% (13/677) in the GP parallel testing arm (P=0.003), and 1% (3/590) in the GP sequential testing arm (P=0.374). Conclusion: Offering antenatal screening for sickle cell disease and thalassaemia as part of consultations for pregnancy confirmation in primary care increases the proportion of women screened before 10 weeks’ gestation. Even with intervention, however, only a minority of women were screened before 10 weeks. Additional interventions should be considered to achieve testing early in pregnancy for most women wanting such tests so that couples with affected pregnancies have less time pressure to choose options, which may include termination of the pregnancy.
Keywords: Humans; Pregnancy Complications, Hematologic; Anemia, Sickle Cell; Thalassemia; Prenatal Diagnosis; Early Diagnosis; Cluster Analysis; Family Practice; Midwifery; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second; Adult; Female; Male; Young Adult; Genetic Carrier Screening
Description: Extent: 10p.
Rights: This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: and
RMID: 0020101039
DOI: 10.1136/bmj.c5132
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