Experience in prenatal testing for Huntington's disease in The Netherlands: procedures, results and guidelines (1987-1997).
We have performed 31 exclusion tests (43 per cent) and 41 direct tests (57 per cent) in 43 couples at risk, in the period 1987 to 1997 in Leiden, The Netherlands. This resulted in termination of 28 pregnancies (39 per cent), with an increased risk. In 28 couples (65 per cent), the woman was at risk. Prenatal testing in consecutive pregnancies (mean number: 3) was performed in 15 couples (35 per cent), with a mean time interval of 15 months. Parents should make an independent choice for (every) pregnancy, although most (86 per cent) did not change their initial choice. It is important that the position of children in the same family, of whom some know their status as a result of prenatal testing, whereas others remain at risk, is taken into consideration in counselling. The relative number of exclusion tests when compared with direct tests has diminished since the mutation was identified. The prenatal exclusion-definitive test (Fig. 1) was rarely used (2/72, 3 per cent). Nowadays, direct mutation testing of the fetus only is simpler and faster and the risk of disclosure of the genetic status of the at-risk parent is only 25 per cent. This test should therefore be offered as another option and included in the international guidelines. The uptake for prenatal testing is low: for 2 per cent of the at-risk persons, 11 per cent of the tested carriers and a small group of at-risk persons wishing not to be tested themselves, prenatal testing seems an acceptable choice regarding reproduction.
Maat-Kievit
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Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands. J.A.Maat@KGC.AZL.NL
Vegter-van der Vlis
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M
Zoeteweij
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M
Losekoot
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M
van Haeringen
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A
Kanhai
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H
Roos
R
R
D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005817:Genetic Counseling; D017408:Guidelines as Topic; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000196:embryology; D008297:Male; D009426:Netherlands; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000592:standards*