title: Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I.
abstract: The recent discovery of a major SMA-locus in the chromosomal region 5q makes it possible to carry out prenatal DNA studies in families in which a child with SMA type I has been born. Since direct mutation analysis is not yet possible, the reliability of prenatal prediction of SMA type I usually depends on the certainty of the clinical diagnosis in the index patient. Sixteen requests were received for DNA studies in couples who had had a previous child with SMA type I. After re-evaluation, the performance of prenatal diagnosis was rejected in four cases. Among the other twelve families prenatal DNA analysis of chorion villus biopsies has been carried out in three families. In all three cases the fetus had inherited the high-risk haplotypes from both parents, and the parents chose to terminate the pregnancy. An illustration of the prenatal DNA studies in one family is given. The importance of confirmation of the diagnosis SMA type I before performing DNA studies is emphasised.
authors.affiliation: Department of Medical Genetics, University of Groningen, The Netherlands.
authors.forename: J M
authors.initials: JM
authors.lastname: Cobben
authors.forename: M
authors.initials: M
authors.lastname: de Visser
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
authors.forename: J
authors.initials: J
authors.lastname: Osinga
authors.forename: G
authors.initials: G
authors.lastname: van der Steege
authors.forename: C H
authors.initials: CH
authors.lastname: Buys
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
authors.forename: L P
authors.initials: LP
authors.lastname: ten Kate
mesh_terms: D001706:Biopsy; D015193:Chorionic Villi Sampling; D005260:Female; D005817:Genetic Counseling; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000473:pathology; D009460:Neurologic Examination; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics
chemical_list: D005819:Genetic Markers