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Gene studies in newborn males with Duchenne muscular dystrophy detected by neonatal screening
C R Greenberg1, M Rohringer, H K Jacobs
1Department of Human Genetics, University of Manitoba, Winnipeg, Canada.
Insights
Neonatal screening for Duchenne muscular dystrophy (DMD) identified affected boys using creatine kinase (CK) levels. DNA analysis confirmed diagnoses and carrier status in mothers, aiding early intervention and potentially reducing DMD incidence.
Area of Science:
- Medical Genetics
- Neuromuscular Disorders
- Neonatal Screening
Background:
- Duchenne muscular dystrophy (DMD) is a severe genetic disorder affecting males.
- Early diagnosis is crucial for management and potential intervention.
- Neonatal screening offers an opportunity for early detection.
Purpose of the Study:
- To evaluate the effectiveness of neonatal screening for Duchenne muscular dystrophy (DMD).
- To assess the utility of creatine kinase (CK) analysis and DNA testing in identifying DMD cases and carriers.
- To determine the impact of early diagnosis on carrier status assignment and potential population incidence reduction.
Main Methods:
- Screening of 18,000 newborn males for DMD using creatine kinase (CK) analysis on blood spots.
- Molecular analysis (deletions/duplications) for confirmed DMD probands.
- Carrier status assessment in mothers based on CK levels and DNA analysis.
Main Results:
- Five affected boys with Duchenne muscular dystrophy were identified.
- Molecular deletions or duplications were found in 3 of the 5 probands.
- Carrier status was confirmed or highly likely in 3 of 5 mothers, with 1 at intermediate risk and 1 at low risk.
Conclusions:
- Neonatal screening for DMD is feasible and can identify affected infants.
- DNA analysis aids in confirming DMD diagnosis and accurately assigning carrier status in mothers.
- Early identification through screening may reduce the population incidence of DMD by enabling timely diagnosis and management.
Abstract:
18,000 newborn males were screened for Duchenne muscular dystrophy (DMD) by creatine kinase (CK) analysis of filter paper blood spots between Jan 1, 1986, and Dec 31, 1987. 5 affected boys have been identified, and in 3 of 5 probands molecular deletions or duplications have been found. 3 of 5 mothers were judged highly likely to be carriers of DMD because of repeatedly raised CK levels, identified gene rearrangements, or both abnormalities. 1 mother has a very low probability of being a carrier and 1 is at an intermediate risk. The use of DNA analyses in new DMD probands identified by neonatal screening has allowed confirmation of the diagnosis and accurate assignment of carrier status in mothers and female relatives in over half the cases studied, and may help to reduce the population incidence of DMD by avoiding delay before clinical diagnosis.