Dataset Information
Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy.
Ontology highlight
ABSTRACT: Objective
To develop a technique for non-invasive prenatal diagnosis of spinal muscular atrophy and validate its performance.Study design
Pregnant women with 1 copy of SMN1 and male fetuses were enrolled. Seventeen women were included in test set A, and 10 of them were selected into test set B randomly and blinded. The two sets were tested independently by two different researchers blinded to fetal genotypes. Fetal DNA fractions were calculated based on the relative proportion of mapped chromosome Y sequencing reads. An algorithm was developed to decide fetal SMN1 copy numbers.Results
The concordance rate with the results of MLPA testing of amniocyte DNA was 94.12% in test set A and 90% in set B. For all tests with a classifiable result, the percent of agreement with the results of MLPA testing of amniocyte DNA was up to 100% (25/25).Conclusion
We have developed a direct, rapid, and low-cost technique, which has a potential to be utilized for first-trimester non-invasive prenatal diagnosis and screening for spinal muscular atrophy with considerable reliability and feasibility.
SUBMITTER: Wei X
PROVIDER: S-EPMC7031576 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Publications
Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy.
Journal of clinical laboratory analysis 20190925 2
<h4>Objective</h4>To develop a technique for non-invasive prenatal diagnosis of spinal muscular atrophy and validate its performance.<h4>Study design</h4>Pregnant women with 1 copy of SMN1 and male fetuses were enrolled. Seventeen women were included in test set A, and 10 of them were selected into test set B randomly and blinded. The two sets were tested independently by two different researchers blinded to fetal genotypes. Fetal DNA fractions were calculated based on the relative proportion of ...[more]