Abstract

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.

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