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DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years
Xingjian Zhong1, Siying Cui1, Lina Liu1
1The Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, No. 1, Jianshe East Rd., Erqi District, Zhengzhou, Henan Province, China.
Insights
Accurate prenatal diagnosis for Duchenne muscular dystrophy (DMD) is crucial for early detection. This study reports on 931 foetal diagnoses, highlighting the importance of genetic counselling for this condition.
Area of Science:
- Genetics
- Prenatal Medicine
- Neuromuscular Disorders
Background:
- Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder with no current cure.
- Early detection through accurate gene diagnosis and prenatal testing is vital for management.
- Prenatal diagnosis offers a critical pathway for families affected by DMD.
Purpose of the Study:
- To report on the largest single-center prenatal diagnosis study for DMD globally.
- To evaluate the efficacy of combined genetic techniques for DMD prenatal diagnosis.
- To provide insights into the prevalence of DMD and carrier status in a studied cohort.
Main Methods:
- Conducted prenatal diagnosis for 931 foetuses from families with a history of DMD.
- Utilized a combination of Multiple Ligation-dependent Probe Amplification (MLPA) and next-generation sequencing.
- Employed Short Tandem Repeat (STR) linkage analysis to pinpoint DMD gene mutations.
Main Results:
- Identified 20.73% of male foetuses at risk for DMD and 16.33% as female carriers.
- Observed gonadal mosaicism in 5 mothers and gene recombination in 3 foetuses.
- Achieved 100% accuracy in prenatal diagnoses, consistent with CPK analysis.
Conclusions:
- Combined MLPA, next-generation sequencing, and STR linkage analysis ensure accurate and rapid DMD prenatal diagnosis.
- High de novo mutation rates necessitate increased attention to prenatal diagnosis and genetic counselling.
- This study underscores the value of advanced genetic testing in managing X-linked muscular dystrophies.
Objective:
DMD/BMD prenatal diagnosis for 931 foetuses.
Background:
DMD is the most common fatal X-linked recessive muscular disease. There is no effective clinical treatment method at present. Accurate gene diagnosis and prenatal diagnosis technology are important ways for early detection, early prevention and early treatment.
Methods:
A total of 931 prenatal diagnoses were performed for pregnant women with a definite family history of DMD or a history of DMD childbirth between 2005 and 2019. This report may be considered the largest DMD prenatal diagnosis report in a single centre worldwide. Multiple ligation-dependent probe amplification (MLPA) and next-generation sequencing were used in combination. Techniques and short tandem repeat (STR) linkage analysis were used to determine the location of the DMD gene mutation in the pregnant woman and then to detect the DMD gene in the foetuses.
Results:
There were 872 families in our study. Among all 931 foetuses, 20.73% (193/931) were males expected to develop DMD and 16.33% (152/931) were female carriers. In addition, gonadal mosaicism was observed in 5 mothers, and gene recombination was identified in three foetuses. The results of the prenatal diagnosis were consistent with the results of the CPK analysis, and the results of the prenatal diagnosis were 100% accurate.
Conclusions:
MLPA and Sanger sequencing, when combined with STR linkage analyses, can provide an accurate and rapid prenatal diagnosis. Due to the high de novo rate, prenatal diagnosis and genetic counselling should be given great attention.
