Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis

The accuracy of DNA-based prenatal diagnosis of Duchenne muscular dystrophy (DMD) was determined by study of 174 families. Only 60% of families had a living affected male, and 63% had history of a single affected male. Prenatal diagnosis was declined by 47% of mothers whose DNA studies predicted a c...

Full description

Saved in:
Bibliographic Details
Published in:American journal of human genetics 1989-02, Vol.44 (2), p.270-281
Main Authors: WARD, P. A, FIELDING HEJTMANCIK, J, WITKOWSKI, J. A, BAUMBACH, L. L, GUNNELL, S, SPEER, J, HAWLEY, P, TANTRAVAHI, U, CASKEY, C. T
Format: Article
Language:English
Subjects:
Biological and medical sciences
DNA - genetics
DNA Probes
Dystrophin
Female
Fetal Diseases - diagnosis
Genetic Carrier Screening
Genetic Linkage
Gynecology. Andrology. Obstetrics
Humans
Male
Management. Prenatal diagnosis
Medical sciences
Muscle Proteins - genetics
Muscular Dystrophies - diagnosis
Muscular Dystrophies - genetics
Pedigree
Pregnancy
Pregnancy Outcome
Pregnancy. Fetus. Placenta
Prenatal Diagnosis
Risk Factors
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The accuracy of DNA-based prenatal diagnosis of Duchenne muscular dystrophy (DMD) was determined by study of 174 families. Only 60% of families had a living affected male, and 63% had history of a single affected male. Prenatal diagnosis was declined by 47% of mothers whose DNA studies predicted a carrier risk below 2%, and none have had affected sons. Fetal risk was estimated prospectively by linkage analysis using intragenic and flanking RFLPs and retrospectively using dystrophin cDNA analysis for families whose linkage estimates lacked precision. Diagnostic accuracy was determined by comparing predictions with 40 male pregnancy outcomes. On the basis of linkage analysis, we anticipated 3.2 DMD males and observed 3.0. Retrospective cDNA analysis identified deletions in 2 of these 3 males. The combined use of linkage and cDNA deletion analysis provided a highly accurate method for prenatal diagnosis of DMD.
ISSN:0002-9297
1537-6605