title: Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland.
abstract: Approximately one in five subjects in Finland carries some gene defect associated with 30 diseases belonging to the Finnish disease heritage, and about 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 recessive 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 maternity care units. Women found to be carriers of AGU (n = 47) or INCL (n = 14) underwent detailed genetic counseling, and their male partners were also offered 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. Antenatal screening for gene defects was feasible and well accepted, and it provided an effective way to find carriers of genetic diseases and to incorporate prenatal testing into this process.
authors.affiliation: Department of Obstetrics and Gynecology, University Hospital of Kuopio, Finland.
authors.forename: J
authors.initials: J
authors.lastname: Kallinen
authors.forename: S
authors.initials: S
authors.lastname: Heinonen
authors.forename: A
authors.initials: A
authors.lastname: Palotie
authors.forename: A
authors.initials: A
authors.lastname: Mannermaa
authors.forename: M
authors.initials: M
authors.lastname: Ryynanen
mesh_terms: D000328:Adult; D001227:Aspartylglucosylaminase / Q000652:urine*; D001294:Attitude to Health; D005240:Feasibility Studies; D005260:Female; D005387:Finland / Q000453:epidemiology; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling / Q000191:economics; D005820:Genetic Testing / Q000191:economics / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D010342:Patient Acceptance of Health Care; D011159:Population Surveillance / Q000379:methods*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D012307:Risk Factors; D011795:Surveys and Questionnaires
chemical_list: D001227:Aspartylglucosylaminase