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Updated: Nov 11, 2025
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
[Prenatal diagnosis of spinal muscular atrophy using multiple ligation-dependent probe amplification]
Yan Xu1, Junyu Zhang, Chunxin Chang
1Department of Reproductive Genetics, International Peace Maternity and Child Health Care Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200030, China. xuchenm@163.com.
Objective:
To carry out prenatal diagnosis for families with high risk for spinal muscular atrophy (SMA) by using multiplex ligation-dependent probe amplification (MLPA).
Methods:
Twenty-one families were enrolled. MLPA was used to detect copy numbers of SMN1 and SMN2 genes. Maternal contamination was excluded by using a short tandem repeat method.
Results:
For 23 fetuses from the 21 families, 14 were identified as carriers, 1 as SMA patient, and 8 as normal. By linkage analysis of parental samples, three individuals were determined as silent (2+0) carriers.
Conclusion:
MLPA can determine the carrier status of SMA. The identification of three silent (2+0) carriers among the 44 parental samples indicated a risk for such families, for which genetic counseling and reproduction guidance should be provided.
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