Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy.

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 wit

SUBMITTER: Wei X 

PROVIDER: S-EPMC7031576 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature