Lundsteen C, Vejerslev L O
Department of Clinical Genetics, Juliane Marie Centre, Rigshospitalet, Copenhagen, Denmark.
Eur J Hum Genet. 1997;5 Suppl 1:14-21.
Prenatal diagnosis (PND) in Denmark is covered by 5 genetic departments. More than 10% of all pregnancies are monitored by amniocentesis (AC) or chorionic villus sampling (CVS). Prenatal cytogenetic analyses are recorded in the Danish Central Cytogenetic Register (DCCR), which provides information on individual cases for genetic counselling and allows the Health Authorities to monitor prenatal diagnosis (PND). About 40% of trisomy 21 is diagnosed prenatally. The present procedures are AC, CVS, chordocentesis, and ultrasound scan. The methods include a wide range of cytogenetic, molecular, and biochemical analyses. Fluorescent in situ hybridisation, comparative genomic hybridisation, and fetal cells in maternal blood are currently investigated. PND is a public health service; the expenses are covered by the counties. The National Board of Health provides guidelines for indications for PND, while termination of pregnancy because of abnormal findings after the 12th week is evaluated on an individual basis. The current legislation prevents pre-implantation diagnosis. This year, clinical genetics was registered as a speciality in Denmark.
丹麦的产前诊断(PND)由5个遗传学部门负责。超过10%的妊娠接受羊膜穿刺术(AC)或绒毛取样(CVS)监测。产前细胞遗传学分析记录在丹麦中央细胞遗传学登记处(DCCR),该登记处为遗传咨询提供个案信息,并使卫生当局能够监测产前诊断(PND)。约40%的21三体综合征在产前被诊断出来。目前的程序包括羊膜穿刺术、绒毛取样、脐带穿刺术和超声扫描。方法包括广泛的细胞遗传学、分子和生化分析。目前正在研究荧光原位杂交、比较基因组杂交和母血中的胎儿细胞。产前诊断是一项公共卫生服务;费用由各郡承担。国家卫生委员会提供产前诊断指征的指导方针,而妊娠12周后因异常结果而终止妊娠则根据个案进行评估。现行法律禁止植入前诊断。今年,临床遗传学在丹麦被注册为一个专业。