Modell B, Petrou M, Layton M, Varnavides L, Slater C, Ward R H, Rodeck C, Nicolaides K, Gibbons S, Fitches A, Old J
Department of Obstetrics and Gynaecology, University College London Medical School.
BMJ. 1997 Sep 27;315(7111):779-84. doi: 10.1136/bmj.315.7111.779.
To audit services for prenatal diagnosis for haemoglobin disorders in the United Kingdom.
Comparison of the annual number of cases recorded in a United Kingdom register of prenatal diagnoses for haemoglobin disorders, with the annual number of pregnancies at risk of these disorders, by ethnic group and regional health authority. The number of pregnancies at risk was estimated using data on ethnic group from the 1991 census and data from the United Kingdom thalassaemia register, which records the number of babies born with thalassaemia.
The three national prenatal diagnosis centres for haemoglobin disorders.
2068 cases of prenatal diagnosis for haemoglobin disorders in the United Kingdom from 1974 to 1994.
Utilisation of prenatal diagnosis by risk, ethnic group, and regional health authority. Proportion of referrals in the first trimester and before the birth of any affected child.
National utilisation of prenatal diagnosis for haemoglobin disorders was around 20%. During the past 10 years it has remained steady at about 50% for thalassaemias and risen from 7% to 13% for sickle cell disorders. Utilisation for sickle cell disorders varies regionally from 2% to 20%. Utilisation for thalassaemias varies by ethnic group. It is almost 90% for Cypriots and ranges regionally for British Pakistanis from 0% to over 60%. About 60% of first prenatal diagnoses are done for couples without an affected child. Less than 50% of first referrals are in the first trimester.
National utilisation of prenatal diagnosis for haemoglobin disorders is far lower than expected, and there are wide regional variations. A high proportion of referrals are still in the second trimester and after the birth of an affected child. The findings point to serious shortcomings in present antenatal screening practice and in local screening policies and to inadequate counselling resources, especially for British Pakistanis.
审核英国血红蛋白病的产前诊断服务。
按种族和地区卫生当局，比较英国血红蛋白病产前诊断登记册中记录的年度病例数与这些疾病风险妊娠的年度数量。利用1991年人口普查的种族数据和英国地中海贫血登记册的数据估计风险妊娠的数量，该登记册记录了患地中海贫血的婴儿数量。
三个国家血红蛋白病产前诊断中心。
1974年至1994年英国2068例血红蛋白病产前诊断病例。
按风险、种族和地区卫生当局划分的产前诊断利用率。孕早期及任何患病儿童出生前转诊的比例。
全国血红蛋白病产前诊断的利用率约为20%。在过去10年中，地中海贫血的利用率一直稳定在约50%，镰状细胞病的利用率从7%上升到13%。镰状细胞病的利用率在各地区从2%到20%不等。地中海贫血的利用率因种族而异。塞浦路斯人几乎达到90%，英国巴基斯坦人的利用率在各地区从0%到超过60%不等。约60%的首次产前诊断是针对没有患病儿童的夫妇进行的。不到50%的首次转诊发生在孕早期。
全国血红蛋白病产前诊断的利用率远低于预期，且地区差异很大。仍有很大比例的转诊发生在孕中期和患病儿童出生后。研究结果表明目前的产前筛查实践、当地筛查政策存在严重缺陷，咨询资源不足，尤其是针对英国巴基斯坦人。
