Implementation of the newborn screening programme for sickle cell disease in England: results for 2003-2005

Abstract

Objectives This paper reports early screening results from the newborn sickle cell disease screening programme recently implemented in England. Setting England. Screening is offered at 5-8 days of age as part of the existing bloodspot test and offered to all babies irrespective of ethnicity. Methods The laboratory methods recommended are high performance liquid chromatography (HPLC) and iso-electric focusing (IEF). 15 Two methods of analysis must be applied to all screen positive results. The conditions screened for are:- Sickle cell anaemia (Hb SS), Hb SC disease, Hb S/β-thalassaemia, Hb S/DPunjab, Hb S/OArab, Hb S/HPFH. Carriers identified for the common haemoglobin variants are reported to parents and follow-up counselling is offered. A bespoke laboratory quality assurance programme has been established which has defined standards of satifactory performance. Results Provisional figures from the first seven months of screening (up to March 2004) 108,255 infants were screened gave a screen positive rate of 1:900 for these high prevalence areas and a carrier rate of 2.7%. Figures for 2004-2005 show about 250 significant screen positive results for sickle cell disorders and about 6,500 carriers were identified. The birth prevalence for screen positive results from 2004-05 is 1:1500. We estimate that when there is countrywide data, the national birth prevalence will be about 1:2000-1:2,500. Conclusion The results from the national newborn sickle cell screening programme in England - show that the sickle cell disorders are as common as cystic fibrosis (CF) in England, although the distribution of cases is concentrated in London and other urban areas. The findings and approach to implementation adopted in England may be of interest to other Western European countries with increasing rates of sickle cell disease who are considering such programmes and also to other developed countries.

Positive screening and carrier results for the England-wide universal newborn sickle cell screening programme by ethnicity and area for 2005–07

“…A detailed implementation plan was developed which included training of staff responsible for taking samples (predominantly midwives) and providing laboratory set-up costs, development of materials for parents, recruitment of counsellors and funding of laboratories as described elsewhere 4 5. Standards for the linked newborn and antenatal programme6 and for the overall bloodspot programme3 are available in various publications.…”

Understanding sickle cell carrier status identified through newborn screening: a qualitative study

“…7 A clinical rationale for disclosure is rarely advanced, or discussed cf. 8 Furthermore, despite the prevalence of NBS-generated carrier results (UK figures indicate approximately 6500 SCD carriers identified for 250 SCD cases 9 ), the bulk of available evidence regarding the effects of identifying carriers through NBS focuses on the case of cystic fibrosis (CF). 10 This evidence suggests that a minority of parents and providers might misunderstand the meaning of carrier status, increasing parental stress and anxiety and the risk of the 'vulnerable child' syndrome.…”

Mobile Phone Based Clinical Microscopy for Global Health Applications

“…If needed, however, significant additional contrast can be achieved by the simple expedient of applying an illumination source at an oblique angle to the sample (data not shown). This mobile phone microscopy system could prove to be particularly useful for point-of-care screening of newborns for sickle cell disorders, to identify and treat patients before the onset of symptoms in resource-poor nations, a process already mandatory in the United States and other developed countries [17], [18], [19].…”