Development and validation of a haplotype‐free technique for non‐invasive prenatal diagnosis of spinal muscular atrophy. Issue 2 (25th September 2019)

• Record Type: Journal Article
• Authors: Wei, Xianda; Lv, Weigang; Tan, Hu; Liang, Desheng; Wu, Lingqian
• Is Part Of: Journal of clinical laboratory analysis. Volume 34:Issue 2(2020)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2019-09-25
• Subjects: cell‐free DNA -- digital PCR -- non‐invasive prenatal diagnosis -- prenatal screening -- spinal muscular atrophy; Diagnosis, Laboratory -- Periodicals; Medical laboratory technology -- Periodicals; 616
• DOI: 10.1002/jcla.23046
• Languages: English
• ISSNs: 0887-8013

Abstract

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.