Open AccessDevelopment and validation of a haplotype‐free technique for non‐invasive prenatal diagnosis of spinal muscular atrophy
Author(s) -
Wei Xianda,
Lv Weigang,
Tan Hu,
Liang Desheng,
Wu Lingqian
Publication year - 2020
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.23046
Subject(s) - smn1 , spinal muscular atrophy , multiplex ligation dependent probe amplification , prenatal diagnosis , concordance , medicine , fetus , biology , pathology , genetics , pregnancy , disease , gene , exon
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.