Reproductieve erfelijkheidsadvisering tijdens de zwangerschap: het belang van (vroeg)tijdige verwijzing

Three women aged 34, 23 and 39 years, who were respectively, 14, 12 and 8 weeks pregnant, requested genetic counselling due to grave genetic diseases in their families. The first woman chiefly wanted to be prepared; an investigation revealed no abnormalities and a healthy child was born. The second needed time to assimilate the information provided and terminated the pregnancy. For the third woman genetic screening was not possible in the short term and furthermore acceptation of the pregnancy was the biggest problem; she gave birth to a healthy child. In the Netherlands, about 800 to 1600 women every year request prenatal genetic counselling when they are already pregnant. The disadvantages of this late timing are the disquiet and uneasiness, the lost options and the time pressure under which difficult decisions have to be taken. Causes of this are a lack of genetic knowledge and psychosocial aspects. Ideally, genetic counselling that deals with reproductive issues should take place prior to conception