Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland

Approximately one in five subjects in Finland carries some gene defect asso ciated with 30 diseases belonging to the Finnish disease heritage, and abou t one in 500 children born is affected. Almost all carriers, women and men, are unaware of their condition. Recent advances in molecular medicine have offered the possibility of population-based carrier screening for recessiv e disorders. We studied acceptance and attitudes to antenatal screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL). From January 1995 until December 1996 carrier tests were offered at Kuopio City Health Center, free of charge to all pregnant women attending maternit y care units. Women found to be carriers of AGU (n = 47) or INCL (n = 14) u nderwent detailed genetic counseling, and their male partners were also off ered the test. If both partners appeared to be carriers we offered prenatal testing (n = 1). No affected fetuses were detected. Attitudes towards the gene test were elicited by means of a questionnaire. Altogether 87% of pregnant women elected to undertake the gene tests. Anten atal screening for gene defects was feasible and well accepted, and it prov ided an effective way to find carriers of genetic diseases and to incorpora te prenatal testing into this process. Copyright (C) 2001 John Wiley & Sons , Ltd.