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新生儿镰状细胞病的预测与诊断

Prediction and diagnosis of sickling disorders in neonates.

作者信息

Adjaye N, Bain B J, Steer P

机构信息

Department of Paediatrics, St Mary's Hospital, London.

出版信息

Arch Dis Child. 1989 Jan;64(1 Spec No):39-43. doi: 10.1136/adc.64.1_spec_no.39.

Abstract

A pilot scheme for the prediction and detection of sickle cell disease in neonates was set up and the results from its first three years of operation analysed. A total of 153 women booking at the antenatal clinic were found to have haemoglobin S. The protocol required that all partners of the women so identified be screened for abnormal haemoglobins and beta thalassaemia trait, and that the babies of these women should have cord blood electrophoresis performed. In fact this was only achieved in 75 partners (49%) and 91 of 145 infants (63%). Of 10 babies born with sickle cell disease during the study period, nine had mothers known to have haemoglobin S or C, but only four of these mothers' partners had been tested before delivery of the child. This pilot study highlights the problems in establishing effective antenatal screening programmes, especially in ethnic minority groups. The results show that detailed staff training, careful organisation of administrative arrangements, and education of 'at risk' groups should all be undertaken before the launching of major screening initiatives.

摘要

开展了一项针对新生儿镰状细胞病预测和检测的试点计划,并对其运营的头三年结果进行了分析。在产前诊所登记的153名女性被发现患有血红蛋白S。方案要求对所有已确认女性的伴侣进行异常血红蛋白和β地中海贫血特征筛查,并对这些女性的婴儿进行脐血电泳检测。实际上,仅对75名伴侣(49%)和145名婴儿中的91名(63%)进行了检测。在研究期间出生的10例镰状细胞病患儿中,9例患儿的母亲已知患有血红蛋白S或C,但这些母亲的伴侣中只有4人在孩子出生前接受了检测。这项试点研究凸显了建立有效的产前筛查计划所面临的问题,尤其是在少数民族群体中。结果表明,在开展重大筛查举措之前,应进行详细的人员培训、精心组织行政安排并对“高危”群体进行教育。

相似文献

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Prediction and diagnosis of sickling disorders in neonates.新生儿镰状细胞病的预测与诊断
Arch Dis Child. 1989 Jan;64(1 Spec No):39-43. doi: 10.1136/adc.64.1_spec_no.39.
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Neonatal screening and genetic counseling for sickle cell trait.镰状细胞性状的新生儿筛查与遗传咨询。
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Br Med J (Clin Res Ed). 1984 Aug 25;289(6443):479-80. doi: 10.1136/bmj.289.6443.479.
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Laboratory Diagnosis of sickling hemoglobinopathies.
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本文引用的文献

3
Neonatal screening for sickle haemoglobinopathies in Birmingham.伯明翰市对镰状血红蛋白病的新生儿筛查
Br Med J (Clin Res Ed). 1982 Mar 27;284(6320):933-5. doi: 10.1136/bmj.284.6320.933.
4
Screening cord blood for sickle haemoglobinopathies in Brent.在布伦特筛查脐带血中的镰状血红蛋白病。
Br Med J (Clin Res Ed). 1984 Aug 25;289(6443):479-80. doi: 10.1136/bmj.289.6443.479.
7
Diagnosis of haemoglobinopathy using cultured chorionic villus cells.
Lancet. 1985 Sep 14;2(8455):613-4. doi: 10.1016/s0140-6736(85)90613-0.

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